Mutagenetix > Incidental Mutation

Incidental Mutation 'R5568:Dmxl2'

437034

Institutional Source

Beutler Lab

Gene Symbol

Dmxl2

Ensembl Gene

ENSMUSG00000041268

Gene Name

Dmx-like 2

Synonyms

E130119P06Rik, 6430411K14Rik

MMRRC Submission

043125-MU

Accession Numbers

NCBI RefSeq: NM_172771.2; MGI:2444630

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54365158-54501626 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 54423359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118163] [ENSMUST00000118163] [ENSMUST00000118163] [ENSMUST00000118163] [ENSMUST00000118163] [ENSMUST00000118163] [ENSMUST00000118600] [ENSMUST00000118600] [ENSMUST00000118600] [ENSMUST00000118600] [ENSMUST00000118600] [ENSMUST00000118600] [ENSMUST00000127880] [ENSMUST00000127880] [ENSMUST00000127880]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000118163

SMART Domains

Protein: ENSMUSP00000113705
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
WD40	43	84	4.58e1	SMART
WD40	100	136	2.28e2	SMART
WD40	159	198	2.57e-2	SMART
WD40	221	269	1.03e-1	SMART
low complexity region	420	440	N/A	INTRINSIC
WD40	741	793	1.42e2	SMART
low complexity region	861	875	N/A	INTRINSIC
low complexity region	945	961	N/A	INTRINSIC
WD40	985	1029	1.15e1	SMART
WD40	1236	1273	2.84e2	SMART
Pfam:Rav1p_C	1430	1903	1.5e-71	PFAM
low complexity region	1978	1993	N/A	INTRINSIC
coiled coil region	2118	2146	N/A	INTRINSIC
low complexity region	2189	2204	N/A	INTRINSIC
low complexity region	2251	2266	N/A	INTRINSIC
low complexity region	2472	2490	N/A	INTRINSIC
low complexity region	2635	2649	N/A	INTRINSIC
low complexity region	2744	2766	N/A	INTRINSIC
WD40	2774	2809	5.73e0	SMART
WD40	2813	2852	8.88e0	SMART
WD40	2859	2901	2.67e-1	SMART
WD40	2907	2946	2.57e-2	SMART
WD40	2949	2988	3.61e-6	SMART
WD40	3001	3039	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118163

SMART Domains

Protein: ENSMUSP00000113705
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
WD40	43	84	4.58e1	SMART
WD40	100	136	2.28e2	SMART
WD40	159	198	2.57e-2	SMART
WD40	221	269	1.03e-1	SMART
low complexity region	420	440	N/A	INTRINSIC
WD40	741	793	1.42e2	SMART
low complexity region	861	875	N/A	INTRINSIC
low complexity region	945	961	N/A	INTRINSIC
WD40	985	1029	1.15e1	SMART
WD40	1236	1273	2.84e2	SMART
Pfam:Rav1p_C	1430	1903	1.5e-71	PFAM
low complexity region	1978	1993	N/A	INTRINSIC
coiled coil region	2118	2146	N/A	INTRINSIC
low complexity region	2189	2204	N/A	INTRINSIC
low complexity region	2251	2266	N/A	INTRINSIC
low complexity region	2472	2490	N/A	INTRINSIC
low complexity region	2635	2649	N/A	INTRINSIC
low complexity region	2744	2766	N/A	INTRINSIC
WD40	2774	2809	5.73e0	SMART
WD40	2813	2852	8.88e0	SMART
WD40	2859	2901	2.67e-1	SMART
WD40	2907	2946	2.57e-2	SMART
WD40	2949	2988	3.61e-6	SMART
WD40	3001	3039	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118163

SMART Domains

Protein: ENSMUSP00000113705
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
WD40	43	84	4.58e1	SMART
WD40	100	136	2.28e2	SMART
WD40	159	198	2.57e-2	SMART
WD40	221	269	1.03e-1	SMART
low complexity region	420	440	N/A	INTRINSIC
WD40	741	793	1.42e2	SMART
low complexity region	861	875	N/A	INTRINSIC
low complexity region	945	961	N/A	INTRINSIC
WD40	985	1029	1.15e1	SMART
WD40	1236	1273	2.84e2	SMART
Pfam:Rav1p_C	1430	1903	1.5e-71	PFAM
low complexity region	1978	1993	N/A	INTRINSIC
coiled coil region	2118	2146	N/A	INTRINSIC
low complexity region	2189	2204	N/A	INTRINSIC
low complexity region	2251	2266	N/A	INTRINSIC
low complexity region	2472	2490	N/A	INTRINSIC
low complexity region	2635	2649	N/A	INTRINSIC
low complexity region	2744	2766	N/A	INTRINSIC
WD40	2774	2809	5.73e0	SMART
WD40	2813	2852	8.88e0	SMART
WD40	2859	2901	2.67e-1	SMART
WD40	2907	2946	2.57e-2	SMART
WD40	2949	2988	3.61e-6	SMART
WD40	3001	3039	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118163

SMART Domains

Protein: ENSMUSP00000113705
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
WD40	43	84	4.58e1	SMART
WD40	100	136	2.28e2	SMART
WD40	159	198	2.57e-2	SMART
WD40	221	269	1.03e-1	SMART
low complexity region	420	440	N/A	INTRINSIC
WD40	741	793	1.42e2	SMART
low complexity region	861	875	N/A	INTRINSIC
low complexity region	945	961	N/A	INTRINSIC
WD40	985	1029	1.15e1	SMART
WD40	1236	1273	2.84e2	SMART
Pfam:Rav1p_C	1430	1903	1.5e-71	PFAM
low complexity region	1978	1993	N/A	INTRINSIC
coiled coil region	2118	2146	N/A	INTRINSIC
low complexity region	2189	2204	N/A	INTRINSIC
low complexity region	2251	2266	N/A	INTRINSIC
low complexity region	2472	2490	N/A	INTRINSIC
low complexity region	2635	2649	N/A	INTRINSIC
low complexity region	2744	2766	N/A	INTRINSIC
WD40	2774	2809	5.73e0	SMART
WD40	2813	2852	8.88e0	SMART
WD40	2859	2901	2.67e-1	SMART
WD40	2907	2946	2.57e-2	SMART
WD40	2949	2988	3.61e-6	SMART
WD40	3001	3039	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118163

SMART Domains

Protein: ENSMUSP00000113705
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
WD40	43	84	4.58e1	SMART
WD40	100	136	2.28e2	SMART
WD40	159	198	2.57e-2	SMART
WD40	221	269	1.03e-1	SMART
low complexity region	420	440	N/A	INTRINSIC
WD40	741	793	1.42e2	SMART
low complexity region	861	875	N/A	INTRINSIC
low complexity region	945	961	N/A	INTRINSIC
WD40	985	1029	1.15e1	SMART
WD40	1236	1273	2.84e2	SMART
Pfam:Rav1p_C	1430	1903	1.5e-71	PFAM
low complexity region	1978	1993	N/A	INTRINSIC
coiled coil region	2118	2146	N/A	INTRINSIC
low complexity region	2189	2204	N/A	INTRINSIC
low complexity region	2251	2266	N/A	INTRINSIC
low complexity region	2472	2490	N/A	INTRINSIC
low complexity region	2635	2649	N/A	INTRINSIC
low complexity region	2744	2766	N/A	INTRINSIC
WD40	2774	2809	5.73e0	SMART
WD40	2813	2852	8.88e0	SMART
WD40	2859	2901	2.67e-1	SMART
WD40	2907	2946	2.57e-2	SMART
WD40	2949	2988	3.61e-6	SMART
WD40	3001	3039	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118163

SMART Domains

Protein: ENSMUSP00000113705
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
WD40	43	84	4.58e1	SMART
WD40	100	136	2.28e2	SMART
WD40	159	198	2.57e-2	SMART
WD40	221	269	1.03e-1	SMART
low complexity region	420	440	N/A	INTRINSIC
WD40	741	793	1.42e2	SMART
low complexity region	861	875	N/A	INTRINSIC
low complexity region	945	961	N/A	INTRINSIC
WD40	985	1029	1.15e1	SMART
WD40	1236	1273	2.84e2	SMART
Pfam:Rav1p_C	1430	1903	1.5e-71	PFAM
low complexity region	1978	1993	N/A	INTRINSIC
coiled coil region	2118	2146	N/A	INTRINSIC
low complexity region	2189	2204	N/A	INTRINSIC
low complexity region	2251	2266	N/A	INTRINSIC
low complexity region	2472	2490	N/A	INTRINSIC
low complexity region	2635	2649	N/A	INTRINSIC
low complexity region	2744	2766	N/A	INTRINSIC
WD40	2774	2809	5.73e0	SMART
WD40	2813	2852	8.88e0	SMART
WD40	2859	2901	2.67e-1	SMART
WD40	2907	2946	2.57e-2	SMART
WD40	2949	2988	3.61e-6	SMART
WD40	3001	3039	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118600

SMART Domains

Protein: ENSMUSP00000113693
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
WD40	43	84	4.58e1	SMART
WD40	100	136	2.28e2	SMART
WD40	159	198	2.57e-2	SMART
WD40	221	269	1.03e-1	SMART
low complexity region	420	440	N/A	INTRINSIC
WD40	741	793	1.42e2	SMART
low complexity region	861	875	N/A	INTRINSIC
low complexity region	945	961	N/A	INTRINSIC
WD40	985	1029	1.15e1	SMART
WD40	1236	1273	2.84e2	SMART
low complexity region	1426	1436	N/A	INTRINSIC
Pfam:Rav1p_C	1447	1903	4.2e-68	PFAM
low complexity region	1978	1993	N/A	INTRINSIC
coiled coil region	2118	2146	N/A	INTRINSIC
low complexity region	2189	2204	N/A	INTRINSIC
low complexity region	2251	2266	N/A	INTRINSIC
low complexity region	2471	2489	N/A	INTRINSIC
low complexity region	2722	2744	N/A	INTRINSIC
WD40	2752	2787	5.73e0	SMART
WD40	2791	2830	8.88e0	SMART
WD40	2837	2879	2.67e-1	SMART
WD40	2885	2924	2.57e-2	SMART
WD40	2927	2966	3.61e-6	SMART
WD40	2979	3017	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118600

SMART Domains

Protein: ENSMUSP00000113693
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
WD40	43	84	4.58e1	SMART
WD40	100	136	2.28e2	SMART
WD40	159	198	2.57e-2	SMART
WD40	221	269	1.03e-1	SMART
low complexity region	420	440	N/A	INTRINSIC
WD40	741	793	1.42e2	SMART
low complexity region	861	875	N/A	INTRINSIC
low complexity region	945	961	N/A	INTRINSIC
WD40	985	1029	1.15e1	SMART
WD40	1236	1273	2.84e2	SMART
low complexity region	1426	1436	N/A	INTRINSIC
Pfam:Rav1p_C	1447	1903	4.2e-68	PFAM
low complexity region	1978	1993	N/A	INTRINSIC
coiled coil region	2118	2146	N/A	INTRINSIC
low complexity region	2189	2204	N/A	INTRINSIC
low complexity region	2251	2266	N/A	INTRINSIC
low complexity region	2471	2489	N/A	INTRINSIC
low complexity region	2722	2744	N/A	INTRINSIC
WD40	2752	2787	5.73e0	SMART
WD40	2791	2830	8.88e0	SMART
WD40	2837	2879	2.67e-1	SMART
WD40	2885	2924	2.57e-2	SMART
WD40	2927	2966	3.61e-6	SMART
WD40	2979	3017	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118600

SMART Domains

Protein: ENSMUSP00000113693
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
WD40	43	84	4.58e1	SMART
WD40	100	136	2.28e2	SMART
WD40	159	198	2.57e-2	SMART
WD40	221	269	1.03e-1	SMART
low complexity region	420	440	N/A	INTRINSIC
WD40	741	793	1.42e2	SMART
low complexity region	861	875	N/A	INTRINSIC
low complexity region	945	961	N/A	INTRINSIC
WD40	985	1029	1.15e1	SMART
WD40	1236	1273	2.84e2	SMART
low complexity region	1426	1436	N/A	INTRINSIC
Pfam:Rav1p_C	1447	1903	4.2e-68	PFAM
low complexity region	1978	1993	N/A	INTRINSIC
coiled coil region	2118	2146	N/A	INTRINSIC
low complexity region	2189	2204	N/A	INTRINSIC
low complexity region	2251	2266	N/A	INTRINSIC
low complexity region	2471	2489	N/A	INTRINSIC
low complexity region	2722	2744	N/A	INTRINSIC
WD40	2752	2787	5.73e0	SMART
WD40	2791	2830	8.88e0	SMART
WD40	2837	2879	2.67e-1	SMART
WD40	2885	2924	2.57e-2	SMART
WD40	2927	2966	3.61e-6	SMART
WD40	2979	3017	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118600

SMART Domains

Protein: ENSMUSP00000113693
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
WD40	43	84	4.58e1	SMART
WD40	100	136	2.28e2	SMART
WD40	159	198	2.57e-2	SMART
WD40	221	269	1.03e-1	SMART
low complexity region	420	440	N/A	INTRINSIC
WD40	741	793	1.42e2	SMART
low complexity region	861	875	N/A	INTRINSIC
low complexity region	945	961	N/A	INTRINSIC
WD40	985	1029	1.15e1	SMART
WD40	1236	1273	2.84e2	SMART
low complexity region	1426	1436	N/A	INTRINSIC
Pfam:Rav1p_C	1447	1903	4.2e-68	PFAM
low complexity region	1978	1993	N/A	INTRINSIC
coiled coil region	2118	2146	N/A	INTRINSIC
low complexity region	2189	2204	N/A	INTRINSIC
low complexity region	2251	2266	N/A	INTRINSIC
low complexity region	2471	2489	N/A	INTRINSIC
low complexity region	2722	2744	N/A	INTRINSIC
WD40	2752	2787	5.73e0	SMART
WD40	2791	2830	8.88e0	SMART
WD40	2837	2879	2.67e-1	SMART
WD40	2885	2924	2.57e-2	SMART
WD40	2927	2966	3.61e-6	SMART
WD40	2979	3017	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118600

SMART Domains

Protein: ENSMUSP00000113693
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
WD40	43	84	4.58e1	SMART
WD40	100	136	2.28e2	SMART
WD40	159	198	2.57e-2	SMART
WD40	221	269	1.03e-1	SMART
low complexity region	420	440	N/A	INTRINSIC
WD40	741	793	1.42e2	SMART
low complexity region	861	875	N/A	INTRINSIC
low complexity region	945	961	N/A	INTRINSIC
WD40	985	1029	1.15e1	SMART
WD40	1236	1273	2.84e2	SMART
low complexity region	1426	1436	N/A	INTRINSIC
Pfam:Rav1p_C	1447	1903	4.2e-68	PFAM
low complexity region	1978	1993	N/A	INTRINSIC
coiled coil region	2118	2146	N/A	INTRINSIC
low complexity region	2189	2204	N/A	INTRINSIC
low complexity region	2251	2266	N/A	INTRINSIC
low complexity region	2471	2489	N/A	INTRINSIC
low complexity region	2722	2744	N/A	INTRINSIC
WD40	2752	2787	5.73e0	SMART
WD40	2791	2830	8.88e0	SMART
WD40	2837	2879	2.67e-1	SMART
WD40	2885	2924	2.57e-2	SMART
WD40	2927	2966	3.61e-6	SMART
WD40	2979	3017	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000118600

SMART Domains

Protein: ENSMUSP00000113693
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
WD40	43	84	4.58e1	SMART
WD40	100	136	2.28e2	SMART
WD40	159	198	2.57e-2	SMART
WD40	221	269	1.03e-1	SMART
low complexity region	420	440	N/A	INTRINSIC
WD40	741	793	1.42e2	SMART
low complexity region	861	875	N/A	INTRINSIC
low complexity region	945	961	N/A	INTRINSIC
WD40	985	1029	1.15e1	SMART
WD40	1236	1273	2.84e2	SMART
low complexity region	1426	1436	N/A	INTRINSIC
Pfam:Rav1p_C	1447	1903	4.2e-68	PFAM
low complexity region	1978	1993	N/A	INTRINSIC
coiled coil region	2118	2146	N/A	INTRINSIC
low complexity region	2189	2204	N/A	INTRINSIC
low complexity region	2251	2266	N/A	INTRINSIC
low complexity region	2471	2489	N/A	INTRINSIC
low complexity region	2722	2744	N/A	INTRINSIC
WD40	2752	2787	5.73e0	SMART
WD40	2791	2830	8.88e0	SMART
WD40	2837	2879	2.67e-1	SMART
WD40	2885	2924	2.57e-2	SMART
WD40	2927	2966	3.61e-6	SMART
WD40	2979	3017	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000123709

SMART Domains

Protein: ENSMUSP00000119959
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
WD40	187	231	1.15e1	SMART
WD40	438	475	2.84e2	SMART
Pfam:Rav1p_C	632	1105	9.1e-72	PFAM
low complexity region	1180	1195	N/A	INTRINSIC
coiled coil region	1319	1347	N/A	INTRINSIC
low complexity region	1391	1406	N/A	INTRINSIC
low complexity region	1453	1468	N/A	INTRINSIC
low complexity region	1674	1692	N/A	INTRINSIC
low complexity region	1925	1947	N/A	INTRINSIC
WD40	1955	1990	5.73e0	SMART
WD40	1994	2033	8.88e0	SMART
WD40	2040	2082	2.67e-1	SMART
WD40	2088	2127	2.57e-2	SMART
WD40	2130	2169	3.61e-6	SMART
WD40	2182	2220	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000123709

SMART Domains

Protein: ENSMUSP00000119959
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
WD40	187	231	1.15e1	SMART
WD40	438	475	2.84e2	SMART
Pfam:Rav1p_C	632	1105	9.1e-72	PFAM
low complexity region	1180	1195	N/A	INTRINSIC
coiled coil region	1319	1347	N/A	INTRINSIC
low complexity region	1391	1406	N/A	INTRINSIC
low complexity region	1453	1468	N/A	INTRINSIC
low complexity region	1674	1692	N/A	INTRINSIC
low complexity region	1925	1947	N/A	INTRINSIC
WD40	1955	1990	5.73e0	SMART
WD40	1994	2033	8.88e0	SMART
WD40	2040	2082	2.67e-1	SMART
WD40	2088	2127	2.57e-2	SMART
WD40	2130	2169	3.61e-6	SMART
WD40	2182	2220	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000123709

SMART Domains

Protein: ENSMUSP00000119959
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
WD40	187	231	1.15e1	SMART
WD40	438	475	2.84e2	SMART
Pfam:Rav1p_C	632	1105	9.1e-72	PFAM
low complexity region	1180	1195	N/A	INTRINSIC
coiled coil region	1319	1347	N/A	INTRINSIC
low complexity region	1391	1406	N/A	INTRINSIC
low complexity region	1453	1468	N/A	INTRINSIC
low complexity region	1674	1692	N/A	INTRINSIC
low complexity region	1925	1947	N/A	INTRINSIC
WD40	1955	1990	5.73e0	SMART
WD40	1994	2033	8.88e0	SMART
WD40	2040	2082	2.67e-1	SMART
WD40	2088	2127	2.57e-2	SMART
WD40	2130	2169	3.61e-6	SMART
WD40	2182	2220	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000123709

SMART Domains

Protein: ENSMUSP00000119959
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
WD40	187	231	1.15e1	SMART
WD40	438	475	2.84e2	SMART
Pfam:Rav1p_C	632	1105	9.1e-72	PFAM
low complexity region	1180	1195	N/A	INTRINSIC
coiled coil region	1319	1347	N/A	INTRINSIC
low complexity region	1391	1406	N/A	INTRINSIC
low complexity region	1453	1468	N/A	INTRINSIC
low complexity region	1674	1692	N/A	INTRINSIC
low complexity region	1925	1947	N/A	INTRINSIC
WD40	1955	1990	5.73e0	SMART
WD40	1994	2033	8.88e0	SMART
WD40	2040	2082	2.67e-1	SMART
WD40	2088	2127	2.57e-2	SMART
WD40	2130	2169	3.61e-6	SMART
WD40	2182	2220	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000123709

SMART Domains

Protein: ENSMUSP00000119959
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
WD40	187	231	1.15e1	SMART
WD40	438	475	2.84e2	SMART
Pfam:Rav1p_C	632	1105	9.1e-72	PFAM
low complexity region	1180	1195	N/A	INTRINSIC
coiled coil region	1319	1347	N/A	INTRINSIC
low complexity region	1391	1406	N/A	INTRINSIC
low complexity region	1453	1468	N/A	INTRINSIC
low complexity region	1674	1692	N/A	INTRINSIC
low complexity region	1925	1947	N/A	INTRINSIC
WD40	1955	1990	5.73e0	SMART
WD40	1994	2033	8.88e0	SMART
WD40	2040	2082	2.67e-1	SMART
WD40	2088	2127	2.57e-2	SMART
WD40	2130	2169	3.61e-6	SMART
WD40	2182	2220	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000123709

SMART Domains

Protein: ENSMUSP00000119959
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
WD40	187	231	1.15e1	SMART
WD40	438	475	2.84e2	SMART
Pfam:Rav1p_C	632	1105	9.1e-72	PFAM
low complexity region	1180	1195	N/A	INTRINSIC
coiled coil region	1319	1347	N/A	INTRINSIC
low complexity region	1391	1406	N/A	INTRINSIC
low complexity region	1453	1468	N/A	INTRINSIC
low complexity region	1674	1692	N/A	INTRINSIC
low complexity region	1925	1947	N/A	INTRINSIC
WD40	1955	1990	5.73e0	SMART
WD40	1994	2033	8.88e0	SMART
WD40	2040	2082	2.67e-1	SMART
WD40	2088	2127	2.57e-2	SMART
WD40	2130	2169	3.61e-6	SMART
WD40	2182	2220	8.25e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000127880

SMART Domains

Protein: ENSMUSP00000122293
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
Pfam:WD40	1	24	7.9e-4	PFAM
WD40	47	95	1.03e-1	SMART
low complexity region	246	266	N/A	INTRINSIC
WD40	567	619	1.42e2	SMART
low complexity region	687	701	N/A	INTRINSIC
low complexity region	771	787	N/A	INTRINSIC
WD40	811	855	1.15e1	SMART
WD40	1062	1099	2.84e2	SMART
low complexity region	1252	1262	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000127880

SMART Domains

Protein: ENSMUSP00000122293
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
Pfam:WD40	1	24	7.9e-4	PFAM
WD40	47	95	1.03e-1	SMART
low complexity region	246	266	N/A	INTRINSIC
WD40	567	619	1.42e2	SMART
low complexity region	687	701	N/A	INTRINSIC
low complexity region	771	787	N/A	INTRINSIC
WD40	811	855	1.15e1	SMART
WD40	1062	1099	2.84e2	SMART
low complexity region	1252	1262	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000127880

SMART Domains

Protein: ENSMUSP00000122293
Gene: ENSMUSG00000041268

Domain	Start	End	E-Value	Type
Pfam:WD40	1	24	7.9e-4	PFAM
WD40	47	95	1.03e-1	SMART
low complexity region	246	266	N/A	INTRINSIC
WD40	567	619	1.42e2	SMART
low complexity region	687	701	N/A	INTRINSIC
low complexity region	771	787	N/A	INTRINSIC
WD40	811	855	1.15e1	SMART
WD40	1062	1099	2.84e2	SMART
low complexity region	1252	1262	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144736

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete prenatal lethality. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(2) Gene trapped(2)

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,622,794	V207A	probably benign	Het
Abcc10	C	A	17: 46,303,908		probably null	Het
Abcc9	A	C	6: 142,689,016	V174G	possibly damaging	Het
Abl1	C	T	2: 31,779,074	A155V	probably damaging	Het
Aco2	T	A	15: 81,903,586	D212E	probably damaging	Het
Adam26b	A	T	8: 43,520,492	M491K	probably benign	Het
Anapc5	G	A	5: 122,791,925		probably benign	Het
Atf7	A	G	15: 102,563,322	I46T	probably damaging	Het
Cacna1b	A	G	2: 24,607,600	S2100P	probably damaging	Het
Capn5	T	A	7: 98,125,930	D501V	probably damaging	Het
Cc2d2a	A	G	5: 43,709,091	M748V	probably damaging	Het
Cd300c2	T	C	11: 115,000,836	T71A	probably damaging	Het
Chmp2a	T	C	7: 13,033,831	M56V	probably benign	Het
Cilp	A	C	9: 65,280,233	R1203S	probably benign	Het
Clp1	T	A	2: 84,725,978	K53*	probably null	Het
Crhbp	T	A	13: 95,442,229	D128V	probably damaging	Het
Crispld1	T	A	1: 17,750,271	I292N	probably benign	Het
Cyp2c68	A	T	19: 39,689,082	I488N	probably benign	Het
Cyp3a57	A	T	5: 145,370,646	M149L	probably benign	Het
Ddx24	T	A	12: 103,424,288	Q59L	possibly damaging	Het
Ddx27	A	G	2: 167,029,519	H512R	possibly damaging	Het
Ddx58	T	A	4: 40,222,140	M380L	probably benign	Het
Dlgap4	T	A	2: 156,762,901	*993K	probably null	Het
Dus4l	A	T	12: 31,646,713	F88L	probably damaging	Het
Ep400	A	T	5: 110,756,205	V176E	probably damaging	Het
Fam71e1	T	G	7: 44,501,004	S207A	probably damaging	Het
Fat3	T	A	9: 16,376,923	K435*	probably null	Het
Fsip2	T	C	2: 82,986,564	C4214R	probably benign	Het
Gfral	T	C	9: 76,164,805	*394W	probably null	Het
Glis1	T	C	4: 107,619,635	S518P	probably damaging	Het
H2-T10	A	G	17: 36,119,187		probably null	Het
Hsbp1l1	T	C	18: 80,235,464	T35A	possibly damaging	Het
Ighv5-12	A	G	12: 113,702,217	F87S	probably damaging	Het
Ints13	A	C	6: 146,576,357	D31E	probably damaging	Het
Kbtbd12	C	T	6: 88,618,627	D74N	probably damaging	Het
Klrb1c	A	G	6: 128,788,914		probably benign	Het
Kmt5b	A	T	19: 3,786,538	H25L	probably benign	Het
Krt28	A	T	11: 99,371,384	M260K	probably damaging	Het
Krt79	A	G	15: 101,929,785	S512P	probably damaging	Het
Lama1	A	T	17: 67,768,298		probably null	Het
Maneal	T	C	4: 124,857,144	E273G	possibly damaging	Het
Map4k3	T	A	17: 80,663,998	Y80F	possibly damaging	Het
Mbd6	A	G	10: 127,283,428	V946A	possibly damaging	Het
Mfsd14b	A	T	13: 65,072,122		probably null	Het
Mrpl46	C	G	7: 78,780,494	W176S	probably damaging	Het
Muc19	A	G	15: 91,884,274		noncoding transcript	Het
Mup3	T	G	4: 62,084,572	E184A	possibly damaging	Het
Myo9a	A	G	9: 59,874,628	H1699R	probably benign	Het
Ndrg2	T	A	14: 51,906,963	T269S	probably damaging	Het
Nfatc1	A	T	18: 80,649,822	V688D	probably benign	Het
Ninj2	T	C	6: 120,198,709	I101T	probably benign	Het
Nlrp10	T	A	7: 108,924,261	M671L	probably benign	Het
Npsr1	T	A	9: 24,313,214	L296I	probably damaging	Het
Olfr582	G	T	7: 103,042,310	R272L	possibly damaging	Het
Olfr975	A	G	9: 39,950,687	L28P	probably benign	Het
Pacsin1	T	A	17: 27,708,048	D242E	probably damaging	Het
Pcdh1	T	C	18: 38,197,367	Y861C	probably damaging	Het
Pcdha12	T	C	18: 37,020,390	L54P	probably damaging	Het
Pcdhb18	T	A	18: 37,491,800	S728T	probably benign	Het
Phyhd1	T	A	2: 30,277,010	H108Q	probably damaging	Het
Plcb1	A	T	2: 135,370,593	I1035F	probably damaging	Het
Plcl1	T	C	1: 55,696,150	S217P	possibly damaging	Het
Plppr2	G	A	9: 21,941,129	R103H	probably damaging	Het
Plxnb2	G	A	15: 89,157,435	T1722I	probably damaging	Het
Pole3	T	C	4: 62,524,431	N53S	probably damaging	Het
Ptk6	A	T	2: 181,199,695	N140K	possibly damaging	Het
Rab12	C	T	17: 66,497,423	R180H	probably damaging	Het
Rab36	G	T	10: 75,052,479	V252L	probably benign	Het
Ranbp3	T	C	17: 56,701,543		probably null	Het
Rapgef2	A	G	3: 79,104,001	L259P	probably damaging	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,229,857		probably benign	Het
Scd2	T	C	19: 44,299,703	F178S	probably damaging	Het
Shmt2	A	G	10: 127,520,381	S87P	probably damaging	Het
Slf1	T	A	13: 77,046,704	D834V	probably damaging	Het
Sorcs2	A	C	5: 36,046,530	Y540*	probably null	Het
Srpk2	T	A	5: 23,525,699	Q274L	possibly damaging	Het
Stradb	T	A	1: 58,992,742	M271K	possibly damaging	Het
Tfec	T	A	6: 16,867,593	Q16L	possibly damaging	Het
Tfg	T	C	16: 56,701,087	T63A	probably benign	Het
Ticrr	G	A	7: 79,689,967		probably null	Het
Ticrr	T	A	7: 79,695,296	C1636*	probably null	Het
Tln2	A	G	9: 67,311,865	I266T	probably damaging	Het
Tmcc1	G	C	6: 116,022,110	R323G	possibly damaging	Het
Tnnt3	A	G	7: 142,512,040	E138G	probably damaging	Het
Tpm2	C	A	4: 43,522,692	E75*	probably null	Het
Ttn	T	G	2: 76,750,578	T23324P	probably damaging	Het
Ubr4	T	G	4: 139,392,038	L176R	probably damaging	Het
Uhrf2	G	T	19: 30,039,088	D46Y	probably damaging	Het
Ulbp1	A	C	10: 7,473,281	S21A	unknown	Het
Usp17lb	C	T	7: 104,841,208	G170R	probably damaging	Het
Utp15	T	C	13: 98,257,925	N153S	probably benign	Het
Vcan	T	A	13: 89,688,671	E2918V	probably damaging	Het
Vmn1r174	T	A	7: 23,754,494	I195K	probably damaging	Het
Vmn1r76	C	T	7: 11,931,135	V16I	probably benign	Het
Xdh	T	C	17: 73,943,885	D24G	possibly damaging	Het
Xylb	T	A	9: 119,361,132	H68Q	probably benign	Het

Other mutations in Dmxl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Dmxl2	APN	9	54401704	missense	probably benign
IGL00226:Dmxl2	APN	9	54415993	missense	probably damaging	1.00
IGL00419:Dmxl2	APN	9	54406667	missense	probably damaging	0.96
IGL00551:Dmxl2	APN	9	54450838	missense	probably damaging	1.00
IGL00765:Dmxl2	APN	9	54415422	unclassified	probably benign
IGL00852:Dmxl2	APN	9	54423313	nonsense	probably null
IGL00857:Dmxl2	APN	9	54376320	missense	probably benign	0.32
IGL00952:Dmxl2	APN	9	54416882	missense	probably damaging	0.99
IGL01139:Dmxl2	APN	9	54458964	missense	probably damaging	1.00
IGL01346:Dmxl2	APN	9	54415475	missense	probably damaging	1.00
IGL01538:Dmxl2	APN	9	54445376	splice site	probably benign
IGL01645:Dmxl2	APN	9	54378733	missense	possibly damaging	0.93
IGL02096:Dmxl2	APN	9	54401065	missense	possibly damaging	0.89
IGL02104:Dmxl2	APN	9	54404015	nonsense	probably null
IGL02145:Dmxl2	APN	9	54374697	missense	probably benign	0.29
IGL02210:Dmxl2	APN	9	54404049	missense	probably damaging	1.00
IGL02238:Dmxl2	APN	9	54445433	missense	probably damaging	1.00
IGL02255:Dmxl2	APN	9	54393768	missense	probably benign	0.06
IGL02364:Dmxl2	APN	9	54393843	missense	probably benign	0.02
IGL02423:Dmxl2	APN	9	54393748	missense	possibly damaging	0.89
IGL02440:Dmxl2	APN	9	54406615	missense	probably damaging	0.98
IGL02546:Dmxl2	APN	9	54366414	utr 3 prime	probably benign
IGL02668:Dmxl2	APN	9	54416945	missense	probably damaging	1.00
IGL03229:Dmxl2	APN	9	54404172	missense	probably damaging	1.00
IGL03244:Dmxl2	APN	9	54416371	missense	probably damaging	1.00
IGL03277:Dmxl2	APN	9	54404220	missense	probably damaging	1.00
IGL03399:Dmxl2	APN	9	54446672	missense	probably damaging	1.00
BB003:Dmxl2	UTSW	9	54428042	missense	probably benign	0.01
BB013:Dmxl2	UTSW	9	54428042	missense	probably benign	0.01
I2288:Dmxl2	UTSW	9	54401793	missense	probably damaging	1.00
P0014:Dmxl2	UTSW	9	54401764	missense	probably damaging	1.00
R0411:Dmxl2	UTSW	9	54378939	missense	probably damaging	1.00
R0422:Dmxl2	UTSW	9	54399940	critical splice donor site	probably null
R0432:Dmxl2	UTSW	9	54416951	missense	probably benign	0.01
R0436:Dmxl2	UTSW	9	54383750	missense	probably damaging	1.00
R0538:Dmxl2	UTSW	9	54393836	missense	probably benign	0.06
R0603:Dmxl2	UTSW	9	54405906	missense	possibly damaging	0.95
R0605:Dmxl2	UTSW	9	54419945	missense	probably benign	0.01
R0625:Dmxl2	UTSW	9	54382702	missense	probably benign
R0626:Dmxl2	UTSW	9	54416554	missense	probably damaging	1.00
R0736:Dmxl2	UTSW	9	54378817	missense	probably damaging	0.99
R0847:Dmxl2	UTSW	9	54405828	missense	probably damaging	1.00
R0855:Dmxl2	UTSW	9	54366440	missense	probably benign	0.03
R0962:Dmxl2	UTSW	9	54446412	missense	probably damaging	0.99
R1015:Dmxl2	UTSW	9	54367765	missense	probably benign	0.32
R1084:Dmxl2	UTSW	9	54416433	missense	probably damaging	1.00
R1328:Dmxl2	UTSW	9	54396249	missense	probably benign	0.12
R1401:Dmxl2	UTSW	9	54415428	critical splice donor site	probably null
R1503:Dmxl2	UTSW	9	54446988	nonsense	probably null
R1609:Dmxl2	UTSW	9	54409263	missense	possibly damaging	0.90
R1613:Dmxl2	UTSW	9	54382027	missense	probably benign
R1660:Dmxl2	UTSW	9	54451030	missense	possibly damaging	0.68
R1712:Dmxl2	UTSW	9	54401485	missense	probably benign	0.00
R1772:Dmxl2	UTSW	9	54423224	splice site	probably benign
R1832:Dmxl2	UTSW	9	54460949	missense	probably damaging	0.97
R1922:Dmxl2	UTSW	9	54401523	missense	probably benign
R2104:Dmxl2	UTSW	9	54415564	missense	probably damaging	1.00
R2109:Dmxl2	UTSW	9	54393813	missense	probably benign	0.06
R2145:Dmxl2	UTSW	9	54415910	missense	probably damaging	1.00
R2199:Dmxl2	UTSW	9	54376243	missense	probably benign	0.35
R2352:Dmxl2	UTSW	9	54393862	missense	probably damaging	1.00
R2516:Dmxl2	UTSW	9	54400094	missense	probably damaging	1.00
R2981:Dmxl2	UTSW	9	54393702	missense	probably damaging	1.00
R3430:Dmxl2	UTSW	9	54477461	missense	possibly damaging	0.94
R3625:Dmxl2	UTSW	9	54393643	missense	probably benign	0.23
R3725:Dmxl2	UTSW	9	54393769	missense	probably damaging	1.00
R3787:Dmxl2	UTSW	9	54369878	missense	probably damaging	1.00
R4002:Dmxl2	UTSW	9	54473832	splice site	probably benign
R4004:Dmxl2	UTSW	9	54446390	missense	probably benign	0.04
R4005:Dmxl2	UTSW	9	54446390	missense	probably benign	0.04
R4012:Dmxl2	UTSW	9	54379013	splice site	probably null
R4014:Dmxl2	UTSW	9	54378709	splice site	probably null
R4115:Dmxl2	UTSW	9	54446988	nonsense	probably null
R4232:Dmxl2	UTSW	9	54419909	missense	possibly damaging	0.89
R4388:Dmxl2	UTSW	9	54396267	missense	probably damaging	1.00
R4513:Dmxl2	UTSW	9	54419884	missense	probably null	0.17
R4552:Dmxl2	UTSW	9	54451763	missense	probably damaging	1.00
R4609:Dmxl2	UTSW	9	54446512	missense	probably damaging	1.00
R4625:Dmxl2	UTSW	9	54404120	missense	possibly damaging	0.55
R4694:Dmxl2	UTSW	9	54446905	missense	probably benign	0.04
R4711:Dmxl2	UTSW	9	54450924	missense	probably benign	0.37
R4715:Dmxl2	UTSW	9	54446405	splice site	probably null
R4746:Dmxl2	UTSW	9	54451796	missense	probably benign	0.04
R4789:Dmxl2	UTSW	9	54379815	missense	probably benign	0.30
R4825:Dmxl2	UTSW	9	54404041	missense	probably benign	0.01
R4911:Dmxl2	UTSW	9	54411653	missense	probably damaging	1.00
R4995:Dmxl2	UTSW	9	54501441	utr 5 prime	probably benign
R5026:Dmxl2	UTSW	9	54416676	missense	probably damaging	1.00
R5118:Dmxl2	UTSW	9	54460987	missense	probably damaging	1.00
R5174:Dmxl2	UTSW	9	54445484	splice site	probably null
R5288:Dmxl2	UTSW	9	54378757	missense	probably benign
R5373:Dmxl2	UTSW	9	54369189	intron	probably benign
R5374:Dmxl2	UTSW	9	54369189	intron	probably benign
R5385:Dmxl2	UTSW	9	54378757	missense	probably benign
R5386:Dmxl2	UTSW	9	54378757	missense	probably benign
R5418:Dmxl2	UTSW	9	54374651	critical splice donor site	probably null
R5540:Dmxl2	UTSW	9	54393857	missense	probably benign	0.21
R5733:Dmxl2	UTSW	9	54376266	missense	possibly damaging	0.64
R5758:Dmxl2	UTSW	9	54472964	missense	probably benign	0.28
R5759:Dmxl2	UTSW	9	54375508	missense	probably damaging	1.00
R5893:Dmxl2	UTSW	9	54387420	missense	possibly damaging	0.64
R6030:Dmxl2	UTSW	9	54393673	missense	probably benign	0.18
R6030:Dmxl2	UTSW	9	54393673	missense	probably benign	0.18
R6041:Dmxl2	UTSW	9	54416753	missense	probably damaging	1.00
R6174:Dmxl2	UTSW	9	54393727	missense	probably damaging	1.00
R6278:Dmxl2	UTSW	9	54415762	missense	probably damaging	1.00
R6307:Dmxl2	UTSW	9	54382706	missense	possibly damaging	0.68
R6349:Dmxl2	UTSW	9	54419909	missense	possibly damaging	0.89
R6404:Dmxl2	UTSW	9	54375536	missense	probably damaging	1.00
R6516:Dmxl2	UTSW	9	54416676	missense	probably damaging	1.00
R6712:Dmxl2	UTSW	9	54411624	missense	probably damaging	1.00
R6747:Dmxl2	UTSW	9	54416088	missense	probably damaging	1.00
R6769:Dmxl2	UTSW	9	54416524	missense	probably damaging	1.00
R6771:Dmxl2	UTSW	9	54416524	missense	probably damaging	1.00
R6800:Dmxl2	UTSW	9	54409183	missense	probably damaging	1.00
R6891:Dmxl2	UTSW	9	54480380	missense	probably damaging	0.99
R6920:Dmxl2	UTSW	9	54472212	missense	probably damaging	1.00
R6979:Dmxl2	UTSW	9	54450879	missense	possibly damaging	0.49
R7147:Dmxl2	UTSW	9	54416729	missense	probably benign	0.06
R7327:Dmxl2	UTSW	9	54401585	missense	probably damaging	1.00
R7462:Dmxl2	UTSW	9	54366632	splice site	probably null
R7526:Dmxl2	UTSW	9	54400957	missense	possibly damaging	0.47
R7569:Dmxl2	UTSW	9	54415987	missense	possibly damaging	0.51
R7622:Dmxl2	UTSW	9	54472218	missense	probably damaging	0.99
R7638:Dmxl2	UTSW	9	54457794	missense	unknown
R7703:Dmxl2	UTSW	9	54461086	missense	probably benign	0.01
R7768:Dmxl2	UTSW	9	54380939	missense	probably damaging	1.00
R7926:Dmxl2	UTSW	9	54428042	missense	probably benign	0.01
R7969:Dmxl2	UTSW	9	54446881	missense	possibly damaging	0.85
R8007:Dmxl2	UTSW	9	54383691	nonsense	probably null
R8200:Dmxl2	UTSW	9	54480346	missense	probably benign
R8311:Dmxl2	UTSW	9	54446933	missense	probably benign	0.00
R8320:Dmxl2	UTSW	9	54383759	missense	probably benign
R8377:Dmxl2	UTSW	9	54378748	missense	probably damaging	1.00
R8400:Dmxl2	UTSW	9	54383753	missense	probably benign	0.03
R8509:Dmxl2	UTSW	9	54428057	nonsense	probably null
R8698:Dmxl2	UTSW	9	54374669	missense	probably benign	0.10
R8768:Dmxl2	UTSW	9	54393821	missense	possibly damaging	0.83
R8770:Dmxl2	UTSW	9	54404014	missense	probably benign	0.01
R8799:Dmxl2	UTSW	9	54419743	critical splice donor site	probably null
R8840:Dmxl2	UTSW	9	54401855	missense	possibly damaging	0.58
R8898:Dmxl2	UTSW	9	54401657	missense	probably benign	0.01
R8954:Dmxl2	UTSW	9	54473872	missense	probably benign	0.04
R9083:Dmxl2	UTSW	9	54409264	missense	probably benign	0.29
R9114:Dmxl2	UTSW	9	54400037	missense
R9115:Dmxl2	UTSW	9	54401727	missense	probably benign
R9263:Dmxl2	UTSW	9	54451661	missense	probably benign	0.01
R9272:Dmxl2	UTSW	9	54404120	missense	possibly damaging	0.55
R9577:Dmxl2	UTSW	9	54416380	missense	unknown
R9673:Dmxl2	UTSW	9	54387556	missense	probably damaging	1.00
R9722:Dmxl2	UTSW	9	54416608	missense	probably benign	0.00
R9726:Dmxl2	UTSW	9	54415712	missense	probably benign	0.09
R9797:Dmxl2	UTSW	9	54450903	missense	probably benign	0.00
X0064:Dmxl2	UTSW	9	54401713	missense	probably benign
Z1177:Dmxl2	UTSW	9	54382034	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACACCTTCATAGAAGCAGGGG -3'
(R):5'- GTTGTGAATCCACCATGATTCCC -3'

Sequencing Primer
(F):5'- ACTGGGAAAGGGGATAACATTTG -3'
(R):5'- GTGAATCCACCATGATTCCCTTATC -3'

Posted On

2016-10-24