Mutagenetix > Incidental Mutation

Incidental Mutation 'RF058:Gab3'

605343

Institutional Source

Beutler Lab

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 #

RF058 (G1)

Quality Score

165.468

Status

Not validated

Chromosome

Chromosomal Location

74966843-75085458 bp(-) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

TCT to TCTACT at 75000002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109744 (fasta)

Gene Model

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

AlphaFold

Q8BSM5

Predicted Effect

probably benign
Transcript: ENSMUST00000037374

SMART Domains

Protein: ENSMUSP00000041951
Gene: ENSMUSG00000032750

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

SMART Domains

Protein: ENSMUSP00000109739
Gene: ENSMUSG00000032750

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

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: 22 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
3110021N24Rik	GAGCGCGGCC	G	4: 108,780,629	probably benign	Het
5430401F13Rik	AAGGAAAAGGTGGCCAG	AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG	6: 131,552,887	probably benign	Het
5430401F13Rik	CAG	CAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,901	probably benign	Het
Alg9	GGC	GGCTGC	9: 50,775,427	probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 4,995,583	probably benign	Het
Chd4	GC	GCTCCCTC	6: 125,122,131	probably benign	Het
Chga	CAG	CAGAAG	12: 102,561,416	probably benign	Het
Cort	GCCCACTCGT	G	4: 149,125,412	probably benign	Het
Flywch1	GT	GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT	17: 23,762,177	probably null	Het
Gabre	C	CCGGCTG	X: 72,270,063	probably benign	Het
Haus4	CACTTAAAAAAAAAA	CA	14: 54,550,035	probably benign	Het
Il2	AG	AGGGCTTGAAGTGG	3: 37,125,817	probably benign	Het
Il2	CTTGAAGTGG	CTTGAAGTGGGGATTGAAGTGG	3: 37,125,821	probably benign	Het
Kri1	TCCTCCTCC	TC	9: 21,281,066	probably null	Het
Krtap28-10	ACAGCCACCACAGCCACAGCCACCACAGC	ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC	1: 83,042,262	probably benign	Het
Mbd1	CGTCTTCGTCTGCATCTGCATCTGCA	C	18: 74,273,609	probably null	Het
Nefh	CCTC	CCTCGCCTGGGGACTTGGACTC	11: 4,941,021	probably benign	Het
Rtbdn	GCAGCG	GCAGCGACAGCG	8: 84,956,172	probably benign	Het
Setd1a	GTGGTGGT	GTGGTGGTATTGGTGGT	7: 127,785,318	probably benign	Het
Treml1	ACCT	A	17: 48,359,947	probably null	Het
Triobp	CTCCCTGTGCCCAAC	CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC	15: 78,967,044	probably benign	Het
Zfp598	CCCACCACCACAACCACCACCACCACCACCAC	CCCACCACCACCACCACAACCACCACCACCACCACCAC	17: 24,680,761	probably benign	Het

Other mutations in Gab3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Gab3	APN	X	75005359	missense	probably benign	0.00
R0894:Gab3	UTSW	X	75033418	missense	probably damaging	1.00
R2069:Gab3	UTSW	X	75000095	missense	probably damaging	1.00
R2102:Gab3	UTSW	X	74999979	small insertion	probably benign
R9092:Gab3	UTSW	X	74999996	small insertion	probably benign
R9092:Gab3	UTSW	X	75000006	small insertion	probably benign
R9096:Gab3	UTSW	X	75000004	small insertion	probably benign
RF001:Gab3	UTSW	X	75000018	small insertion	probably benign
RF003:Gab3	UTSW	X	75000006	nonsense	probably null
RF006:Gab3	UTSW	X	75000027	small insertion	probably benign
RF007:Gab3	UTSW	X	74999996	small insertion	probably benign
RF007:Gab3	UTSW	X	75000011	small insertion	probably benign
RF007:Gab3	UTSW	X	75000025	small insertion	probably benign
RF009:Gab3	UTSW	X	74999992	small insertion	probably benign
RF009:Gab3	UTSW	X	75000024	nonsense	probably null
RF010:Gab3	UTSW	X	75000011	small insertion	probably benign
RF012:Gab3	UTSW	X	75000020	small insertion	probably benign
RF016:Gab3	UTSW	X	74999985	nonsense	probably null
RF020:Gab3	UTSW	X	75000017	small insertion	probably benign
RF022:Gab3	UTSW	X	74999994	nonsense	probably null
RF025:Gab3	UTSW	X	75000008	small insertion	probably benign
RF026:Gab3	UTSW	X	74999990	small insertion	probably benign
RF026:Gab3	UTSW	X	75000023	small insertion	probably benign
RF028:Gab3	UTSW	X	75000000	nonsense	probably null
RF028:Gab3	UTSW	X	75000017	small insertion	probably benign
RF030:Gab3	UTSW	X	74999977	small deletion	probably benign
RF030:Gab3	UTSW	X	75000005	small insertion	probably benign
RF030:Gab3	UTSW	X	75000008	small insertion	probably benign
RF030:Gab3	UTSW	X	75000025	small insertion	probably benign
RF030:Gab3	UTSW	X	75000026	small insertion	probably benign
RF031:Gab3	UTSW	X	74999996	small insertion	probably benign
RF031:Gab3	UTSW	X	74999997	nonsense	probably null
RF031:Gab3	UTSW	X	75000001	small insertion	probably benign
RF033:Gab3	UTSW	X	75000001	small insertion	probably benign
RF033:Gab3	UTSW	X	75000023	small insertion	probably benign
RF039:Gab3	UTSW	X	75000004	small insertion	probably benign
RF040:Gab3	UTSW	X	75000027	small insertion	probably benign
RF042:Gab3	UTSW	X	75000005	small insertion	probably benign
RF042:Gab3	UTSW	X	75000022	small insertion	probably benign
RF044:Gab3	UTSW	X	75000005	small insertion	probably benign
RF047:Gab3	UTSW	X	74999993	small insertion	probably benign
RF052:Gab3	UTSW	X	74999983	small insertion	probably benign
RF055:Gab3	UTSW	X	74999987	small insertion	probably benign
RF055:Gab3	UTSW	X	75000010	small insertion	probably benign
RF059:Gab3	UTSW	X	74999990	small insertion	probably benign
RF060:Gab3	UTSW	X	75000013	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CGGTGACCTGGTTTTATAATAAGC -3'
(R):5'- TTTGGAAGGAACAGGCTCAAAC -3'

Sequencing Primer
(F):5'- AAGCCATTCTTTATGACTGCACAC -3'
(R):5'- GGCTCAAACCCCACAGG -3'

Posted On

2019-12-04