Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01538:Dmxl2'

90089

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dmxl2

Ensembl Gene

ENSMUSG00000041268

Gene Name

Dmx-like 2

Synonyms

E130119P06Rik, 6430411K14Rik

Accession Numbers

NCBI RefSeq: NM_172771.2; MGI:2444630

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

54365158-54501626 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 54445376 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122293 (fasta)

Gene Model

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

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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: ENSMUST00000128865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144736

Coding Region Coverage

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,872,202		noncoding transcript	Het
Abca3	G	T	17: 24,376,473	C328F	possibly damaging	Het
Aldh5a1	T	C	13: 24,918,512	N323D	possibly damaging	Het
Atp5c1	T	C	2: 10,068,666	Y32C	probably damaging	Het
Capn3	T	G	2: 120,502,186		probably null	Het
Ccdc113	C	A	8: 95,551,238	D275E	probably benign	Het
Ccdc40	T	A	11: 119,242,719	F562I	possibly damaging	Het
Cd96	T	C	16: 46,109,127	T152A	possibly damaging	Het
Cdh7	T	A	1: 110,061,140	D257E	probably damaging	Het
Cilp2	T	C	8: 69,881,204	D1048G	probably benign	Het
Clrn2	T	G	5: 45,460,066	L93R	probably damaging	Het
Crat	C	A	2: 30,409,966	G134V	probably damaging	Het
Dis3	A	T	14: 99,097,745	N140K	probably benign	Het
Dus1l	T	A	11: 120,793,079	Q181L	probably damaging	Het
Ece1	A	G	4: 137,948,544	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,048	H90L	probably damaging	Het
Gm16602	G	A	13: 19,336,570		probably benign	Het
Gm1966	T	C	7: 106,602,537	D500G	probably damaging	Het
Gpr152	T	A	19: 4,142,952	V164E	probably damaging	Het
Grik3	A	C	4: 125,694,036	I650L	possibly damaging	Het
Gzmm	A	T	10: 79,695,062	T233S	probably benign	Het
H2-Q4	T	A	17: 35,383,312	V341D	probably benign	Het
Igsf21	A	G	4: 140,027,718		probably benign	Het
Kmt2d	T	C	15: 98,860,657		probably benign	Het
Kntc1	T	G	5: 123,781,658	V864G	probably damaging	Het
Lnx1	T	C	5: 74,620,155	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,097,430	K985N	probably benign	Het
Map4k1	C	A	7: 29,001,619	P670Q	probably damaging	Het
Mapk8ip1	C	A	2: 92,388,974		probably null	Het
Mettl16	T	A	11: 74,792,267	Y178*	probably null	Het
Mrpl11	T	A	19: 4,963,421		probably null	Het
Nup85	T	C	11: 115,569,714	S140P	possibly damaging	Het
Olfr1140	T	C	2: 87,746,598	V134A	probably benign	Het
Olfr1301	T	A	2: 111,755,005	V252E	probably damaging	Het
Olfr301	T	C	7: 86,412,959	L199P	possibly damaging	Het
Olfr352	T	C	2: 36,870,520		probably benign	Het
Pcdhb2	T	A	18: 37,295,322	L116*	probably null	Het
Pdcd7	C	A	9: 65,346,703	R188S	probably damaging	Het
Pdk2	T	C	11: 95,027,285	Y374C	probably damaging	Het
Ppp1r12a	G	T	10: 108,234,021	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,876,635	Y169N	probably damaging	Het
Prcp	A	C	7: 92,910,213	T162P	probably benign	Het
Prkd1	A	G	12: 50,342,142	S873P	probably benign	Het
Ptpn2	T	C	18: 67,681,553	T129A	probably benign	Het
Rtkn	G	A	6: 83,146,061	R68H	probably damaging	Het
Sall4	C	T	2: 168,755,856	D355N	probably damaging	Het
Scn7a	A	G	2: 66,703,852	V493A	probably benign	Het
Sema4b	G	A	7: 80,215,696	A140T	probably damaging	Het
Shisa6	C	A	11: 66,217,828	G408C	possibly damaging	Het
Slc7a9	G	T	7: 35,454,164	V197F	probably damaging	Het
Spata2	A	T	2: 167,484,151	D249E	probably damaging	Het
Stk36	T	A	1: 74,633,638	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,343,500	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,537,844	V185D	possibly damaging	Het
Tgm7	T	A	2: 121,106,915	Y76F	probably benign	Het
Tph1	T	C	7: 46,653,753	Y267C	probably damaging	Het
Ube2d1	A	G	10: 71,255,826		probably benign	Het
Vmn2r12	C	A	5: 109,091,850	R282S	probably damaging	Het
Vps4a	A	G	8: 107,036,924	D72G	probably benign	Het
Wipf2	T	A	11: 98,890,803	V56D	possibly damaging	Het
Wisp3	A	G	10: 39,158,310	Y99H	probably damaging	Het
Zfp750	C	A	11: 121,512,165	V586L	probably benign	Het
Zfp831	A	G	2: 174,644,606	E358G	possibly damaging	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
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
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	unclassified	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	unclassified	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
R5568:Dmxl2	UTSW	9	54423359	splice site	probably null
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
X0064:Dmxl2	UTSW	9	54401713	missense	probably benign

Posted On

2013-12-03