Mutagenetix > Incidental Mutation

Incidental Mutation 'RF003:Gab3'

602671

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF003 (G1)

Quality Score

125.467

Status

Not validated

Chromosome

Chromosomal Location

74966843-75085458 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

CTT to CTTATT at 75000006 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 null
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 null
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 null
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: 99.2%
20x: 98.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,993,055		probably benign	Het
A630073D07Rik	A	C	6: 132,627,443	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,775,427		probably benign	Het
Arc	G	C	15: 74,672,131	T81S	probably benign	Het
Atad5	A	T	11: 80,111,560	K1059N	probably damaging	Het
Bdp1	C	A	13: 100,060,449	V1143F	probably benign	Het
Bdp1	C	A	13: 100,060,450	Q1142H	probably benign	Het
Ccdc33	T	C	9: 58,058,291	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,712,531		probably benign	Het
Cep192	A	T	18: 67,837,956	R1009S	probably benign	Het
Clvs2	T	A	10: 33,622,925	H3L	probably damaging	Het
Cnot6	T	C	11: 49,702,613	M14V	probably benign	Het
Colec10	A	G	15: 54,462,391	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,629,534	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,678,134	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,910,131		probably null	Het
Efhb	T	C	17: 53,400,891	D748G	probably damaging	Het
Etl4	C	T	2: 20,519,918	Q21*	probably null	Het
Fam172a	A	T	13: 77,834,675	I135L	possibly damaging	Het
Fam71e1	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,500,527		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,762,166		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,525,786		probably benign	Het
Fsip2	T	A	2: 82,991,521	M5866K	probably benign	Het
Gnl2	T	A	4: 125,043,725		probably null	Het
Grip2	C	T	6: 91,783,593	R341Q	probably benign	Het
Hmcn1	T	A	1: 150,624,561	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Il12a	A	T	3: 68,695,229	T102S	probably benign	Het
Il1a	T	A	2: 129,302,932	I189F	possibly damaging	Het
Inpp4b	T	A	8: 81,969,521	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,570,607		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 95,940,816		probably benign	Het
Lrmp	AGCACATTG	AGCACATTGTGCACATTG	6: 145,173,783		probably benign	Het
Lrrc8d	T	C	5: 105,812,641	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 71,118,820		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,306,296		probably benign	Het
Map1b	G	T	13: 99,430,750	A1821E	unknown	Het
Maz	A	G	7: 127,025,497	C284R	probably damaging	Het
Med23	A	G	10: 24,903,785	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,294,027		probably benign	Het
Mmp14	C	T	14: 54,439,014	R339*	probably null	Het
Mroh9	T	G	1: 163,058,061	K334T	probably damaging	Het
Nab1	A	T	1: 52,479,282	C320S	probably damaging	Het
Noto	T	C	6: 85,424,210	S74P	probably benign	Het
Nudt4	T	C	10: 95,549,374	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,119,176		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,627,603		probably benign	Het
Olfr118	A	C	17: 37,672,858	K278N	probably damaging	Het
Olfr330	CA	C	11: 58,529,157		probably null	Het
Olfr461	T	C	6: 40,544,362	I206V	probably benign	Het
Olfr585	GTTAT	GTTATTAT	7: 103,098,305			Het
Olfr585	TTA	TTAGTA	7: 103,098,306		probably null	Het
Olfr710	T	A	7: 106,944,648	M118L	probably damaging	Het
Olfr828	T	C	9: 18,815,482	T271A	probably benign	Het
Plxnc1	T	C	10: 94,794,444	Y1531C	probably damaging	Het
Pnmal2	TGA	TGAAGA	7: 16,946,016		probably benign	Het
Rp1	A	G	1: 4,344,694	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 23,945,369		probably benign	Het
Sepsecs	G	A	5: 52,647,191	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,569,764		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,370		probably benign	Het
Tfeb	C	T	17: 47,788,078	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,616,352		probably null	Het
Tmem94	G	A	11: 115,796,132	V1108M	probably damaging	Het
Usp35	T	C	7: 97,322,096	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,582,824	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,036,476		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483		probably benign	Het
Zfp407	A	T	18: 84,209,563	S1974T	probably benign	Het
Zfp677	T	C	17: 21,397,442	S254P	probably damaging	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
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
RF058:Gab3	UTSW	X	75000002	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