Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02794:Atraid'

359893

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atraid

Ensembl Gene

ENSMUSG00000013622

Gene Name

all-trans retinoic acid induced differentiation factor

Synonyms

0610007C21Rik, HSPC013, p18

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL02794

Quality Score

Status

Chromosome

Chromosomal Location

31205984-31211977 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31210214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 135 (S135N)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013766] [ENSMUST00000013773] [ENSMUST00000080431] [ENSMUST00000114668] [ENSMUST00000200816] [ENSMUST00000201136] [ENSMUST00000201773] [ENSMUST00000200942] [ENSMUST00000202556] [ENSMUST00000202520] [ENSMUST00000200953] [ENSMUST00000201174] [ENSMUST00000201182] [ENSMUST00000201838] [ENSMUST00000202795]

AlphaFold

Q6PGD0

Predicted Effect

probably benign
Transcript: ENSMUST00000013766
AA Change: S152N

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000013766
Gene: ENSMUSG00000013622
AA Change: S152N

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
EGF	149	187	2.03e1	SMART
transmembrane domain	192	214	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000013773

SMART Domains

Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629

Domain	Start	End	E-Value	Type
CPSase_sm_chain	1	139	8.81e-80	SMART
Pfam:GATase	179	356	4.7e-47	PFAM
low complexity region	397	407	N/A	INTRINSIC
Pfam:ATP-grasp_4	511	692	1.2e-15	PFAM
Pfam:CPSase_L_D2	514	718	1.8e-85	PFAM
Pfam:ATP-grasp	522	690	1.5e-9	PFAM
Pfam:Dala_Dala_lig_C	527	687	2.2e-10	PFAM
CPSase_L_D3	798	921	9.7e-59	SMART
Pfam:ATP-grasp_4	1044	1223	1.8e-23	PFAM
Pfam:CPSase_L_D2	1047	1250	3.1e-28	PFAM
Pfam:Dala_Dala_lig_C	1054	1242	2.3e-7	PFAM
Pfam:ATP-grasp	1055	1222	2.1e-12	PFAM
MGS	1327	1428	1.35e-7	SMART
Pfam:Amidohydro_1	1462	1730	7.4e-12	PFAM
low complexity region	1820	1839	N/A	INTRINSIC
low complexity region	1864	1880	N/A	INTRINSIC
Pfam:OTCace_N	1924	2065	1.9e-44	PFAM
Pfam:OTCace	2071	2221	7.6e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080431

SMART Domains

Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114668

SMART Domains

Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000200748
AA Change: S135N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200800

Predicted Effect

probably benign
Transcript: ENSMUST00000200816

SMART Domains

Protein: ENSMUSP00000144665
Gene: ENSMUSG00000006641

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201136
AA Change: S99N

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144085
Gene: ENSMUSG00000013622
AA Change: S99N

Domain	Start	End	E-Value	Type
EGF	96	134	2.03e1	SMART
transmembrane domain	138	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201773
AA Change: S128N

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144333
Gene: ENSMUSG00000013622
AA Change: S128N

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201887

Predicted Effect

probably benign
Transcript: ENSMUST00000200942

Predicted Effect

probably benign
Transcript: ENSMUST00000202556

SMART Domains

Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202520

SMART Domains

Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200953

SMART Domains

Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629

Domain	Start	End	E-Value	Type
CPSase_sm_chain	1	139	8.81e-80	SMART
Pfam:GATase	179	356	4.5e-47	PFAM
low complexity region	397	407	N/A	INTRINSIC
Pfam:CPSase_L_D2	514	616	1.5e-34	PFAM
Pfam:Dala_Dala_lig_C	527	625	2.4e-7	PFAM
Pfam:CPSase_L_D2	614	655	4.9e-15	PFAM
CPSase_L_D3	735	858	9.7e-59	SMART
Pfam:ATP-grasp_4	981	1160	1.7e-23	PFAM
Pfam:CPSase_L_D2	984	1187	3e-28	PFAM
Pfam:Dala_Dala_lig_C	991	1179	2.3e-7	PFAM
Pfam:ATP-grasp	992	1159	2.1e-12	PFAM
MGS	1264	1365	1.35e-7	SMART
Pfam:Amidohydro_1	1399	1667	7.1e-12	PFAM
low complexity region	1757	1776	N/A	INTRINSIC
low complexity region	1801	1817	N/A	INTRINSIC
Pfam:OTCace_N	1861	2002	1.8e-44	PFAM
Pfam:OTCace	2008	2158	7.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201174

Predicted Effect

probably benign
Transcript: ENSMUST00000201182

SMART Domains

Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629

Domain	Start	End	E-Value	Type
CPSase_sm_chain	1	139	8.81e-80	SMART
Pfam:GATase	179	356	4.5e-47	PFAM
low complexity region	397	407	N/A	INTRINSIC
Pfam:ATP-grasp_4	511	692	1.1e-15	PFAM
Pfam:CPSase_L_D2	514	718	1.7e-85	PFAM
Pfam:ATP-grasp	522	690	1.4e-9	PFAM
Pfam:Dala_Dala_lig_C	527	687	2.1e-10	PFAM
CPSase_L_D3	798	921	9.7e-59	SMART
Pfam:ATP-grasp_4	1044	1223	1.7e-23	PFAM
Pfam:CPSase_L_D2	1047	1250	3e-28	PFAM
Pfam:Dala_Dala_lig_C	1054	1242	2.3e-7	PFAM
Pfam:ATP-grasp	1055	1222	2.1e-12	PFAM
MGS	1327	1428	1.35e-7	SMART
Pfam:Amidohydro_1	1462	1730	7.1e-12	PFAM
low complexity region	1820	1839	N/A	INTRINSIC
low complexity region	1864	1880	N/A	INTRINSIC
Pfam:OTCace_N	1949	1994	1.4e-11	PFAM
Pfam:OTCace	2000	2150	7.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201838

SMART Domains

Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629

Domain	Start	End	E-Value	Type
CPSase_sm_chain	1	139	8.81e-80	SMART
Pfam:GATase	179	356	6.3e-48	PFAM
low complexity region	397	407	N/A	INTRINSIC
Pfam:ATP-grasp_4	511	692	1.9e-16	PFAM
Pfam:CPSase_L_D2	514	718	3.7e-86	PFAM
Pfam:ATP-grasp	522	690	2.5e-10	PFAM
Pfam:Dala_Dala_lig_C	526	687	4.2e-11	PFAM
CPSase_L_D3	798	921	9.7e-59	SMART
SCOP:d1a9xa3	935	964	1e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202795

SMART Domains

Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629

Domain	Start	End	E-Value	Type
CPSase_sm_chain	1	139	8.81e-80	SMART
Pfam:GATase	179	356	1.9e-47	PFAM
low complexity region	397	407	N/A	INTRINSIC
Pfam:ATP-grasp_4	511	692	5.9e-16	PFAM
Pfam:CPSase_L_D2	514	718	1.2e-85	PFAM
Pfam:ATP-grasp	522	690	7.3e-10	PFAM
Pfam:Dala_Dala_lig_C	527	687	1.3e-10	PFAM
CPSase_L_D3	798	921	9.7e-59	SMART
Pfam:ATP-grasp_4	1044	1223	8.9e-24	PFAM
Pfam:CPSase_L_D2	1047	1250	2.1e-28	PFAM
Pfam:Dala_Dala_lig_C	1054	1242	1.3e-7	PFAM
Pfam:ATP-grasp	1055	1222	1.1e-12	PFAM
MGS	1327	1428	1.35e-7	SMART
Pfam:Amidohydro_1	1462	1730	2.5e-11	PFAM
low complexity region	1820	1839	N/A	INTRINSIC
low complexity region	1864	1880	N/A	INTRINSIC
Pfam:OTCace_N	1970	2004	4.6e-11	PFAM
Pfam:OTCace	2010	2160	9.9e-37	PFAM

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 is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009]
PHENOTYPE: Mice heterozygous or homozygous for a gene trap mutation exhibit cataracts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,621,385 (GRCm39)	C1082S	probably benign	Het
Akt2	G	T	7: 27,328,806 (GRCm39)	R176L	probably benign	Het
Aldh16a1	A	G	7: 44,795,018 (GRCm39)	Y484H	probably damaging	Het
Apeh	A	G	9: 107,969,209 (GRCm39)	S280P	possibly damaging	Het
Atp1a4	T	C	1: 172,071,653 (GRCm39)	M481V	probably benign	Het
Camta2	C	T	11: 70,566,484 (GRCm39)	G677D	possibly damaging	Het
Ccdc18	A	G	5: 108,319,614 (GRCm39)	N545S	probably benign	Het
Cic	A	G	7: 24,985,069 (GRCm39)	D1105G	probably damaging	Het
Crisp1	A	T	17: 40,623,957 (GRCm39)	M4K	unknown	Het
Crnkl1	C	T	2: 145,772,532 (GRCm39)	E182K	possibly damaging	Het
Dnmt1	A	T	9: 20,847,847 (GRCm39)	C114S	probably benign	Het
Dsc2	A	T	18: 20,174,788 (GRCm39)	Y496N	probably damaging	Het
Dst	T	C	1: 34,309,910 (GRCm39)	V1528A	probably damaging	Het
Fbxl8	C	T	8: 105,994,752 (GRCm39)	T88M	probably benign	Het
Fbxo10	T	C	4: 45,041,928 (GRCm39)	N767S	probably benign	Het
Gm1527	A	G	3: 28,949,829 (GRCm39)	T30A	unknown	Het
Gorasp2	C	A	2: 70,509,838 (GRCm39)	Y166*	probably null	Het
Gucy2c	T	A	6: 136,690,146 (GRCm39)	Q744L	probably damaging	Het
Heg1	A	T	16: 33,546,992 (GRCm39)	N593I	probably damaging	Het
Ice1	T	A	13: 70,757,278 (GRCm39)	S236C	possibly damaging	Het
Il12b	T	C	11: 44,298,808 (GRCm39)	Y88H	probably damaging	Het
Izumo3	C	T	4: 92,035,200 (GRCm39)	V6I	probably benign	Het
Kcna6	A	G	6: 126,715,515 (GRCm39)	V458A	probably damaging	Het
Kif13b	G	A	14: 65,040,889 (GRCm39)	R1659Q	probably benign	Het
Klk1b1	A	G	7: 43,619,789 (GRCm39)	D116G	possibly damaging	Het
Lama2	T	C	10: 26,917,227 (GRCm39)	T2233A	possibly damaging	Het
Lin9	A	T	1: 180,479,444 (GRCm39)	K59N	probably damaging	Het
Ltbp2	T	C	12: 84,838,709 (GRCm39)	E1083G	probably damaging	Het
Mfsd11	T	A	11: 116,750,177 (GRCm39)	S105T	probably damaging	Het
Mga	T	A	2: 119,776,770 (GRCm39)	I1768N	possibly damaging	Het
Mical3	C	A	6: 120,984,270 (GRCm39)	G202V	probably damaging	Het
Mylk	A	T	16: 34,806,911 (GRCm39)	I1719F	probably benign	Het
Nusap1	T	A	2: 119,460,867 (GRCm39)	F120Y	possibly damaging	Het
Or52e8	T	A	7: 104,624,596 (GRCm39)	M203L	probably benign	Het
Or8b56	T	A	9: 38,739,511 (GRCm39)	C175S	probably damaging	Het
Or8k32	T	C	2: 86,368,492 (GRCm39)	T256A	possibly damaging	Het
Pidd1	T	C	7: 141,023,021 (GRCm39)	Y57C	probably benign	Het
Pik3cd	T	A	4: 149,739,028 (GRCm39)	M671L	probably benign	Het
Ppp5c	A	G	7: 16,740,885 (GRCm39)	V361A	probably benign	Het
Prune2	T	C	19: 17,096,725 (GRCm39)	V743A	probably benign	Het
Siglec1	C	A	2: 130,917,889 (GRCm39)	S996I	possibly damaging	Het
Slc12a7	A	G	13: 73,957,206 (GRCm39)	R948G	possibly damaging	Het
Slc40a1	A	T	1: 45,948,668 (GRCm39)	Y537*	probably null	Het
Smarca4	T	A	9: 21,584,638 (GRCm39)		probably benign	Het
Smg6	C	T	11: 74,944,760 (GRCm39)	P1109S	probably damaging	Het
Sorl1	T	A	9: 41,975,070 (GRCm39)	N513Y	probably damaging	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,603,704 (GRCm39)	C17R	probably damaging	Het
Ttc3	T	C	16: 94,268,785 (GRCm39)	C1956R	probably damaging	Het
Vmn1r211	G	T	13: 23,036,379 (GRCm39)	T96N	possibly damaging	Het
Vmn1r211	C	A	13: 23,036,376 (GRCm39)	S97I	probably damaging	Het
Vmn1r211	T	A	13: 23,036,377 (GRCm39)	S97C	probably damaging	Het
Vmn2r66	A	T	7: 84,644,623 (GRCm39)	S596T	probably benign	Het
Zfp609	A	G	9: 65,611,602 (GRCm39)	S454P	possibly damaging	Het

Other mutations in Atraid

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02689:Atraid	APN	5	31,209,826 (GRCm39)	missense	probably damaging	1.00
R0528:Atraid	UTSW	5	31,209,796 (GRCm39)	unclassified	probably benign
R0682:Atraid	UTSW	5	31,209,612 (GRCm39)	missense	probably damaging	1.00
R4085:Atraid	UTSW	5	31,209,650 (GRCm39)	unclassified	probably benign
R5213:Atraid	UTSW	5	31,209,552 (GRCm39)	missense	probably damaging	1.00
R6200:Atraid	UTSW	5	31,210,210 (GRCm39)	missense	probably damaging	1.00
R7214:Atraid	UTSW	5	31,209,590 (GRCm39)	nonsense	probably null
R8121:Atraid	UTSW	5	31,211,642 (GRCm39)	splice site	probably null
R8756:Atraid	UTSW	5	31,211,385 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18