Incidental Mutation 'R4683:Gab1'
ID 350116
Institutional Source Beutler Lab
Gene Symbol Gab1
Ensembl Gene ENSMUSG00000031714
Gene Name growth factor receptor bound protein 2-associated protein 1
Synonyms
MMRRC Submission 041935-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4683 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 81491067-81607148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 81515261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 352 (H352Q)
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: H352Q

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034150
Gene: ENSMUSG00000031714
AA Change: H352Q

DomainStartEndE-ValueType
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: H352Q

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211018
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,141,709 (GRCm39) V56A probably damaging Het
Acyp1 A G 12: 85,325,717 (GRCm39) probably benign Het
Adgrb1 A T 15: 74,459,963 (GRCm39) K532I probably damaging Het
Ahrr T A 13: 74,372,885 (GRCm39) silent Het
Asz1 T C 6: 18,055,541 (GRCm39) probably benign Het
AW554918 T C 18: 25,472,852 (GRCm39) Y219H probably benign Het
Ccno C A 13: 113,125,543 (GRCm39) probably null Het
Cdh17 A T 4: 11,817,036 (GRCm39) N816Y possibly damaging Het
Clca4a C T 3: 144,660,701 (GRCm39) V708I probably damaging Het
Col6a3 T A 1: 90,701,179 (GRCm39) Y2579F unknown Het
Col6a4 A G 9: 105,957,329 (GRCm39) V165A probably benign Het
Csf1r T A 18: 61,257,983 (GRCm39) C651S probably damaging Het
Cyp4f14 T C 17: 33,126,985 (GRCm39) D315G probably null Het
Def6 A G 17: 28,436,609 (GRCm39) D91G probably damaging Het
Dmxl1 T G 18: 50,011,088 (GRCm39) S1082A probably damaging Het
Dnah2 A T 11: 69,349,768 (GRCm39) Y2392N probably damaging Het
Dsg4 T C 18: 20,594,466 (GRCm39) S532P probably benign Het
Efr3a C A 15: 65,691,650 (GRCm39) S126R probably damaging Het
Gm1110 A G 9: 26,831,890 (GRCm39) M87T probably damaging Het
Greb1 C T 12: 16,761,774 (GRCm39) M535I possibly damaging Het
Greb1l T A 18: 10,529,563 (GRCm39) probably null Het
Gucy2d T C 7: 98,102,650 (GRCm39) C487R probably benign Het
H1f7 A T 15: 98,154,921 (GRCm39) I76N probably damaging Het
Lrrc2 A T 9: 110,791,614 (GRCm39) H122L possibly damaging Het
Mrps22 A T 9: 98,480,359 (GRCm39) probably null Het
Mxd3 T C 13: 55,473,613 (GRCm39) T202A probably benign Het
Neb T C 2: 52,134,074 (GRCm39) H3303R possibly damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or13a19 T C 7: 139,902,681 (GRCm39) L23P probably benign Het
Or14j6 A G 17: 38,215,039 (GRCm39) T201A probably benign Het
Pard3b T C 1: 62,255,675 (GRCm39) Y629H probably benign Het
Pcnx1 A G 12: 82,033,446 (GRCm39) D1781G probably benign Het
Pcsk5 A T 19: 17,450,405 (GRCm39) C1148S probably damaging Het
Pcsk9 A T 4: 106,316,092 (GRCm39) I117N possibly damaging Het
Pcyt1b C A X: 92,789,970 (GRCm39) P318H probably damaging Het
Pfkfb2 T A 1: 130,634,221 (GRCm39) probably null Het
Pi4ka T C 16: 17,114,901 (GRCm39) E1456G possibly damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Sh2b2 C T 5: 136,260,574 (GRCm39) C214Y probably damaging Het
Slc52a2 C A 15: 76,424,433 (GRCm39) P224T probably damaging Het
Slf2 C G 19: 44,923,920 (GRCm39) R245G probably benign Het
Sox5 T C 6: 143,779,193 (GRCm39) S648G probably damaging Het
Stk36 T A 1: 74,673,344 (GRCm39) I1079N probably benign Het
Stxbp3 T C 3: 108,708,188 (GRCm39) D371G probably damaging Het
Trnau1ap A T 4: 132,049,063 (GRCm39) Y47N probably damaging Het
Ubr5 C T 15: 38,038,211 (GRCm39) R316H probably damaging Het
Vmn1r230 C T 17: 21,067,515 (GRCm39) R235C probably benign Het
Wnt10a C T 1: 74,842,296 (GRCm39) H93Y unknown Het
Zfp1005 T A 2: 150,108,390 (GRCm39) H50Q possibly damaging Het
Zfp52 A G 17: 21,781,769 (GRCm39) D539G probably benign Het
Other mutations in Gab1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2860:Gab1 UTSW 8 81,511,382 (GRCm39) missense probably benign 0.32
R2861:Gab1 UTSW 8 81,511,382 (GRCm39) missense probably benign 0.32
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'- AGGCTCTTACTCATTAAGCCTTG -3'
(R):5'- CTGCAGGTGTAGAAACGCAG -3'

Sequencing Primer
(F):5'- GCCTTGTGGAAACAGACTTTC -3'
(R):5'- CGCAGATGAGACATGTATCCATCAG -3'
Posted On 2015-10-08