Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00706:Gab3'

10870

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gab3

Ensembl Gene

ENSMUSG00000032750

Gene Name

growth factor receptor bound protein 2-associated protein 3

Synonyms

5930433H21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00706

Quality Score

Status

Chromosome

Chromosomal Location

74032151-74128511 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74048965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 362 (S362N)

Ref Sequence

ENSEMBL: ENSMUSP00000041951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037374] [ENSMUST00000114104] [ENSMUST00000114109]

AlphaFold

Q8BSM5

Predicted Effect

probably benign
Transcript: ENSMUST00000037374
AA Change: S362N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000041951
Gene: ENSMUSG00000032750
AA Change: S362N

Domain	Start	End	E-Value	Type
PH	6	119	3.2e-21	SMART
low complexity region	269	280	N/A	INTRINSIC
low complexity region	307	314	N/A	INTRINSIC
low complexity region	424	435	N/A	INTRINSIC
coiled coil region	494	520	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114104
AA Change: S362N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109739
Gene: ENSMUSG00000032750
AA Change: S362N

Domain	Start	End	E-Value	Type
PH	6	119	3.2e-21	SMART
low complexity region	269	280	N/A	INTRINSIC
low complexity region	307	314	N/A	INTRINSIC
low complexity region	424	435	N/A	INTRINSIC
coiled coil region	495	527	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114109

SMART Domains

Protein: ENSMUSP00000109744
Gene: ENSMUSG00000032750

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
coiled coil region	97	123	N/A	INTRINSIC
Pfam:Pcc1	170	228	1.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129495

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 a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Females homozygous and males hemizygous for disruptions in this X-linked gene developed normally, exhibted normal hematopoiesis, and were immunocompetent. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	A	19: 8,991,094 (GRCm39)	S4126*	probably null	Het
Arhgap26	T	A	18: 39,419,604 (GRCm39)	N521K	probably damaging	Het
Bard1	C	T	1: 71,070,585 (GRCm39)	R633H	probably benign	Het
Cntn3	C	T	6: 102,180,910 (GRCm39)	V762I	probably benign	Het
Cyp2e1	T	C	7: 140,349,066 (GRCm39)	I132T	probably benign	Het
Cyp2t4	T	C	7: 26,854,583 (GRCm39)	I13T	probably benign	Het
Dhx36	A	T	3: 62,404,263 (GRCm39)	C227S	probably damaging	Het
Fetub	A	G	16: 22,754,446 (GRCm39)	T138A	probably benign	Het
Gpr158	T	C	2: 21,751,584 (GRCm39)	L501P	probably damaging	Het
Ifit1bl2	T	A	19: 34,596,282 (GRCm39)	T445S	probably benign	Het
Kdm5a	T	A	6: 120,383,597 (GRCm39)	D779E	possibly damaging	Het
Ms4a5	C	T	19: 11,261,142 (GRCm39)	V6I	probably benign	Het
Rgl3	A	G	9: 21,888,535 (GRCm39)	F425S	probably damaging	Het
Rnf6	T	C	5: 146,148,715 (GRCm39)	D112G	possibly damaging	Het
Spink12	G	A	18: 44,240,872 (GRCm39)	C86Y	probably damaging	Het
Styxl2	T	C	1: 165,928,121 (GRCm39)	E497G	probably benign	Het
Wdr3	G	A	3: 100,055,416 (GRCm39)		probably benign	Het

Other mutations in Gab3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0894:Gab3	UTSW	X	74,077,024 (GRCm39)	missense	probably damaging	1.00
R2069:Gab3	UTSW	X	74,043,701 (GRCm39)	missense	probably damaging	1.00
R2102:Gab3	UTSW	X	74,043,585 (GRCm39)	small insertion	probably benign
R9092:Gab3	UTSW	X	74,043,612 (GRCm39)	small insertion	probably benign
R9092:Gab3	UTSW	X	74,043,602 (GRCm39)	small insertion	probably benign
R9096:Gab3	UTSW	X	74,043,610 (GRCm39)	small insertion	probably benign
RF001:Gab3	UTSW	X	74,043,624 (GRCm39)	small insertion	probably benign
RF003:Gab3	UTSW	X	74,043,612 (GRCm39)	nonsense	probably null
RF006:Gab3	UTSW	X	74,043,633 (GRCm39)	small insertion	probably benign
RF007:Gab3	UTSW	X	74,043,631 (GRCm39)	small insertion	probably benign
RF007:Gab3	UTSW	X	74,043,602 (GRCm39)	small insertion	probably benign
RF007:Gab3	UTSW	X	74,043,617 (GRCm39)	small insertion	probably benign
RF009:Gab3	UTSW	X	74,043,630 (GRCm39)	nonsense	probably null
RF009:Gab3	UTSW	X	74,043,598 (GRCm39)	small insertion	probably benign
RF010:Gab3	UTSW	X	74,043,617 (GRCm39)	small insertion	probably benign
RF012:Gab3	UTSW	X	74,043,626 (GRCm39)	small insertion	probably benign
RF016:Gab3	UTSW	X	74,043,591 (GRCm39)	nonsense	probably null
RF020:Gab3	UTSW	X	74,043,623 (GRCm39)	small insertion	probably benign
RF022:Gab3	UTSW	X	74,043,600 (GRCm39)	nonsense	probably null
RF025:Gab3	UTSW	X	74,043,614 (GRCm39)	small insertion	probably benign
RF026:Gab3	UTSW	X	74,043,629 (GRCm39)	small insertion	probably benign
RF026:Gab3	UTSW	X	74,043,596 (GRCm39)	small insertion	probably benign
RF028:Gab3	UTSW	X	74,043,623 (GRCm39)	small insertion	probably benign
RF028:Gab3	UTSW	X	74,043,606 (GRCm39)	nonsense	probably null
RF030:Gab3	UTSW	X	74,043,631 (GRCm39)	small insertion	probably benign
RF030:Gab3	UTSW	X	74,043,632 (GRCm39)	small insertion	probably benign
RF030:Gab3	UTSW	X	74,043,583 (GRCm39)	small deletion	probably benign
RF030:Gab3	UTSW	X	74,043,611 (GRCm39)	small insertion	probably benign
RF030:Gab3	UTSW	X	74,043,614 (GRCm39)	small insertion	probably benign
RF031:Gab3	UTSW	X	74,043,607 (GRCm39)	small insertion	probably benign
RF031:Gab3	UTSW	X	74,043,603 (GRCm39)	nonsense	probably null
RF031:Gab3	UTSW	X	74,043,602 (GRCm39)	small insertion	probably benign
RF033:Gab3	UTSW	X	74,043,629 (GRCm39)	small insertion	probably benign
RF033:Gab3	UTSW	X	74,043,607 (GRCm39)	small insertion	probably benign
RF039:Gab3	UTSW	X	74,043,610 (GRCm39)	small insertion	probably benign
RF040:Gab3	UTSW	X	74,043,633 (GRCm39)	small insertion	probably benign
RF042:Gab3	UTSW	X	74,043,628 (GRCm39)	small insertion	probably benign
RF042:Gab3	UTSW	X	74,043,611 (GRCm39)	small insertion	probably benign
RF044:Gab3	UTSW	X	74,043,611 (GRCm39)	small insertion	probably benign
RF047:Gab3	UTSW	X	74,043,599 (GRCm39)	small insertion	probably benign
RF052:Gab3	UTSW	X	74,043,589 (GRCm39)	small insertion	probably benign
RF055:Gab3	UTSW	X	74,043,616 (GRCm39)	small insertion	probably benign
RF055:Gab3	UTSW	X	74,043,593 (GRCm39)	small insertion	probably benign
RF058:Gab3	UTSW	X	74,043,608 (GRCm39)	small insertion	probably benign
RF059:Gab3	UTSW	X	74,043,596 (GRCm39)	small insertion	probably benign
RF060:Gab3	UTSW	X	74,043,619 (GRCm39)	small insertion	probably benign

Posted On

2012-12-06