Mutagenetix > Incidental Mutation

Incidental Mutation 'R2860:Gab1'

252840

Institutional Source

Beutler Lab

Gene Symbol

Gab1

Ensembl Gene

ENSMUSG00000031714

Gene Name

growth factor receptor bound protein 2-associated protein 1

Synonyms

MMRRC Submission

040450-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81491067-81607148 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81511382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 488 (M488V)

Ref Sequence

ENSEMBL: ENSMUSP00000034150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034150] [ENSMUST00000210676]

AlphaFold

Q9QYY0

Predicted Effect

probably benign
Transcript: ENSMUST00000034150
AA Change: M488V

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034150
Gene: ENSMUSG00000031714
AA Change: M488V

Domain	Start	End	E-Value	Type
PH	6	118	1.16e-23	SMART
low complexity region	336	354	N/A	INTRINSIC
low complexity region	572	586	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210676
AA Change: M488V

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (44/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit developmental defects in the placenta, heart, eye, muscle, and skin, and die between embryonic day 13.5 and 18.5. [provided by MGI curators]

Allele List at MGI

All alleles(43) : Targeted, knock-out(1) Targeted, other(8) Gene trapped(34)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,259,057 (GRCm39)	S2928G	probably damaging	Het
Abcc9	C	T	6: 142,571,736 (GRCm39)	V1131M	probably benign	Het
Abcd1	T	A	X: 72,781,064 (GRCm39)	L713H	probably damaging	Het
Actg1	T	C	11: 120,237,627 (GRCm39)	I52V	probably benign	Het
Ang	G	T	14: 51,339,275 (GRCm39)	D139Y	probably damaging	Het
Ano1	C	T	7: 144,143,749 (GRCm39)	G1011E	probably damaging	Het
Apoe	T	C	7: 19,431,479 (GRCm39)	Y46C	probably damaging	Het
Ash1l	T	C	3: 88,961,785 (GRCm39)	W2386R	probably damaging	Het
Asph	T	C	4: 9,598,277 (GRCm39)	D250G	probably damaging	Het
Atr	A	G	9: 95,756,296 (GRCm39)	N836S	probably benign	Het
Bltp1	G	A	3: 37,019,998 (GRCm39)	S2079N	probably damaging	Het
Btg3	A	G	16: 78,161,868 (GRCm39)	V114A	probably damaging	Het
C2	T	C	17: 35,082,854 (GRCm39)	T471A	possibly damaging	Het
C4b	T	A	17: 34,953,732 (GRCm39)	S959C	probably damaging	Het
Cap1	A	T	4: 122,758,518 (GRCm39)	S221T	probably benign	Het
Capn2	A	T	1: 182,300,485 (GRCm39)		probably benign	Het
Cd38	A	G	5: 44,058,775 (GRCm39)	S130G	probably damaging	Het
Cd8b1	A	G	6: 71,311,085 (GRCm39)	R202G	probably damaging	Het
Col22a1	A	G	15: 71,687,792 (GRCm39)		probably null	Het
Cps1	A	T	1: 67,205,534 (GRCm39)	E519V	probably benign	Het
Cyp2c38	G	A	19: 39,449,138 (GRCm39)	R72W	probably benign	Het
Cyp3a16	A	T	5: 145,392,309 (GRCm39)	Y215*	probably null	Het
Dennd10	T	C	19: 60,803,232 (GRCm39)	S80P	probably benign	Het
F5	A	T	1: 164,012,533 (GRCm39)	K482N	probably damaging	Het
Gabpb1	A	G	2: 126,495,494 (GRCm39)	I86T	probably damaging	Het
Gbx2	C	T	1: 89,856,853 (GRCm39)	R179Q	probably damaging	Het
Gm11938	C	A	11: 99,493,972 (GRCm39)	R41L	probably damaging	Het
Gpn1	A	G	5: 31,654,664 (GRCm39)	D72G	probably damaging	Het
Greb1	A	G	12: 16,761,746 (GRCm39)	S545P	probably benign	Het
Hsd3b7	T	G	7: 127,401,442 (GRCm39)	L189R	probably damaging	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,537,717 (GRCm39)	V494A	possibly damaging	Het
Inka1	T	C	9: 107,861,603 (GRCm39)	T238A	probably benign	Het
Itsn2	C	A	12: 4,750,315 (GRCm39)		probably benign	Het
Kcnn1	T	C	8: 71,299,179 (GRCm39)	K487R	probably benign	Het
Kdf1	G	A	4: 133,255,852 (GRCm39)	E190K	probably damaging	Het
Lama3	G	T	18: 12,586,807 (GRCm39)	L723F	probably damaging	Het
Lama5	T	C	2: 179,829,040 (GRCm39)	T2034A	probably benign	Het
Maged1	G	A	X: 93,582,530 (GRCm39)	P366S	probably damaging	Het
Med14	A	G	X: 12,585,936 (GRCm39)	I521T	probably benign	Het
Mia2	A	G	12: 59,201,196 (GRCm39)	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,225,203 (GRCm39)	R53Q	possibly damaging	Het
Nmnat2	G	A	1: 152,988,171 (GRCm39)	V267I	probably benign	Het
Opn4	A	G	14: 34,315,785 (GRCm39)		probably null	Het
Or2d2b	T	A	7: 106,705,675 (GRCm39)	H131L	probably benign	Het
Or4f56	G	T	2: 111,703,818 (GRCm39)	C127*	probably null	Het
Or5p66	A	G	7: 107,886,169 (GRCm39)	S55P	probably damaging	Het
Or6k6	A	G	1: 173,945,298 (GRCm39)	Y95H	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Parp16	G	T	9: 65,141,086 (GRCm39)	D219Y	probably damaging	Het
Pitpnm2	G	C	5: 124,259,500 (GRCm39)	H1224Q	probably damaging	Het
Pkd1	C	T	17: 24,784,420 (GRCm39)	T322I	probably benign	Het
Pkhd1l1	A	C	15: 44,404,267 (GRCm39)	T2299P	probably damaging	Het
Plin4	T	C	17: 56,413,668 (GRCm39)	D319G	probably damaging	Het
Ppp6r3	A	C	19: 3,571,782 (GRCm39)	S122R	possibly damaging	Het
Pum3	A	T	19: 27,397,525 (GRCm39)		probably benign	Het
Pwwp3b	G	A	X: 138,137,429 (GRCm39)	G656S	possibly damaging	Het
Rims1	A	T	1: 22,503,227 (GRCm39)	F653I	probably benign	Het
Rnf113a1	A	G	X: 36,455,736 (GRCm39)	E231G	probably damaging	Het
Rnf41	T	C	10: 128,274,023 (GRCm39)	L225P	possibly damaging	Het
Ryr2	T	C	13: 11,607,979 (GRCm39)	E876G	probably damaging	Het
Slc25a10	G	A	11: 120,386,003 (GRCm39)	V115M	probably damaging	Het
Snx13	T	A	12: 35,188,116 (GRCm39)	I798N	probably benign	Het
Sri	A	T	5: 8,117,540 (GRCm39)	Q178L	probably benign	Het
Tex14	T	G	11: 87,365,243 (GRCm39)	D62E	probably damaging	Het
Tshz1	G	T	18: 84,033,105 (GRCm39)	H434Q	probably damaging	Het
Vegfd	A	G	X: 163,168,879 (GRCm39)	E57G	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r59	A	G	7: 41,696,427 (GRCm39)	I105T	possibly damaging	Het
Vmn2r6	G	T	3: 64,454,760 (GRCm39)	T513N	probably benign	Het
Vmn2r72	A	T	7: 85,400,044 (GRCm39)	I335N	probably damaging	Het
Wiz	G	T	17: 32,580,680 (GRCm39)	T257K	probably damaging	Het
Xirp1	A	G	9: 119,847,444 (GRCm39)	S41P	probably benign	Het
Xirp1	T	C	9: 119,848,881 (GRCm39)	M1V	probably null	Het

Other mutations in Gab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01679:Gab1	APN	8	81,518,178 (GRCm39)	missense	probably benign	0.00
IGL02610:Gab1	APN	8	81,526,728 (GRCm39)	critical splice donor site	probably null
IGL02661:Gab1	APN	8	81,515,566 (GRCm39)	missense	probably damaging	1.00
IGL02716:Gab1	APN	8	81,496,323 (GRCm39)	missense	probably damaging	1.00
fallen_angel	UTSW	8	81,606,161 (GRCm39)	nonsense	probably null
fleabite	UTSW	8	81,526,745 (GRCm39)	missense	probably damaging	1.00
Welterweight	UTSW	8	81,501,594 (GRCm39)	nonsense	probably null
D3080:Gab1	UTSW	8	81,493,007 (GRCm39)	missense	probably damaging	1.00
R0006:Gab1	UTSW	8	81,496,359 (GRCm39)	missense	possibly damaging	0.56
R0144:Gab1	UTSW	8	81,511,830 (GRCm39)	splice site	probably benign
R0173:Gab1	UTSW	8	81,526,789 (GRCm39)	missense	possibly damaging	0.68
R0414:Gab1	UTSW	8	81,526,918 (GRCm39)	missense	probably damaging	1.00
R0503:Gab1	UTSW	8	81,526,771 (GRCm39)	missense	probably damaging	1.00
R0675:Gab1	UTSW	8	81,496,297 (GRCm39)	missense	probably damaging	1.00
R0690:Gab1	UTSW	8	81,526,745 (GRCm39)	missense	probably damaging	1.00
R1068:Gab1	UTSW	8	81,526,801 (GRCm39)	missense	possibly damaging	0.95
R1175:Gab1	UTSW	8	81,511,471 (GRCm39)	missense	probably damaging	0.99
R1240:Gab1	UTSW	8	81,515,159 (GRCm39)	missense	probably damaging	1.00
R1430:Gab1	UTSW	8	81,515,241 (GRCm39)	missense	probably benign	0.34
R1656:Gab1	UTSW	8	81,515,388 (GRCm39)	missense	probably damaging	1.00
R1986:Gab1	UTSW	8	81,493,010 (GRCm39)	missense	probably damaging	1.00
R2861:Gab1	UTSW	8	81,511,382 (GRCm39)	missense	probably benign	0.32
R4683:Gab1	UTSW	8	81,515,261 (GRCm39)	missense	probably benign	0.34
R4726:Gab1	UTSW	8	81,515,682 (GRCm39)	missense	possibly damaging	0.80
R5425:Gab1	UTSW	8	81,527,018 (GRCm39)	missense	probably damaging	1.00
R5684:Gab1	UTSW	8	81,496,299 (GRCm39)	missense	probably damaging	1.00
R6195:Gab1	UTSW	8	81,606,161 (GRCm39)	nonsense	probably null
R6217:Gab1	UTSW	8	81,518,237 (GRCm39)	missense	possibly damaging	0.48
R6233:Gab1	UTSW	8	81,606,161 (GRCm39)	nonsense	probably null
R6407:Gab1	UTSW	8	81,515,226 (GRCm39)	missense	possibly damaging	0.77
R6408:Gab1	UTSW	8	81,515,226 (GRCm39)	missense	possibly damaging	0.77
R6415:Gab1	UTSW	8	81,515,226 (GRCm39)	missense	possibly damaging	0.77
R6418:Gab1	UTSW	8	81,515,226 (GRCm39)	missense	possibly damaging	0.77
R6479:Gab1	UTSW	8	81,515,226 (GRCm39)	missense	possibly damaging	0.77
R7019:Gab1	UTSW	8	81,511,446 (GRCm39)	missense	probably damaging	0.99
R7291:Gab1	UTSW	8	81,526,780 (GRCm39)	missense	probably damaging	1.00
R7432:Gab1	UTSW	8	81,515,298 (GRCm39)	missense	probably benign	0.20
R7875:Gab1	UTSW	8	81,515,395 (GRCm39)	missense	probably damaging	1.00
R7893:Gab1	UTSW	8	81,511,395 (GRCm39)	missense	possibly damaging	0.47
R8405:Gab1	UTSW	8	81,501,594 (GRCm39)	nonsense	probably null
R9105:Gab1	UTSW	8	81,515,589 (GRCm39)	missense	probably damaging	1.00
R9485:Gab1	UTSW	8	81,515,484 (GRCm39)	missense	probably damaging	0.99
X0066:Gab1	UTSW	8	81,606,193 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGCATAGTCCCATGCCAG -3'
(R):5'- TCAAAAGCGTGTTGACAGCG -3'

Sequencing Primer
(F):5'- GGTATGGTTAATAGAGCCCTAACTGC -3'
(R):5'- CGTGTTGACAGCGGGAGG -3'

Posted On

2014-12-04