Incidental Mutation 'R0414:Gab1'
ID 40171
Institutional Source Beutler Lab
Gene Symbol Gab1
Ensembl Gene ENSMUSG00000031714
Gene Name growth factor receptor bound protein 2-associated protein 1
Synonyms
MMRRC Submission 038616-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0414 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 81491067-81607148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81526918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 60 (I60T)
Ref Sequence ENSEMBL: ENSMUSP00000147784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034150] [ENSMUST00000210676]
AlphaFold Q9QYY0
Predicted Effect probably damaging
Transcript: ENSMUST00000034150
AA Change: I60T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034150
Gene: ENSMUSG00000031714
AA Change: I60T

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 damaging
Transcript: ENSMUST00000210676
AA Change: I60T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211018
Meta Mutation Damage Score 0.9159 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 96% (64/67)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik A T 5: 103,797,356 (GRCm39) V51E probably benign Het
Abo T C 2: 26,733,428 (GRCm39) Y259C probably damaging Het
Adamts5 A G 16: 85,674,794 (GRCm39) S457P probably damaging Het
Alk G T 17: 72,206,281 (GRCm39) probably benign Het
Alpk2 A G 18: 65,439,230 (GRCm39) I1188T probably benign Het
Ambra1 T C 2: 91,706,084 (GRCm39) S730P possibly damaging Het
Arhgef2 T C 3: 88,539,575 (GRCm39) probably benign Het
Atpsckmt T A 15: 31,617,148 (GRCm39) Y126* probably null Het
B3gnt7 T C 1: 86,233,351 (GRCm39) I82T probably damaging Het
B4galnt3 T C 6: 120,193,526 (GRCm39) D400G probably benign Het
Bag4 A G 8: 26,258,025 (GRCm39) V434A possibly damaging Het
Cfap251 A G 5: 123,425,476 (GRCm39) probably null Het
Cfc1 A G 1: 34,576,409 (GRCm39) D130G probably damaging Het
Chd4 T C 6: 125,084,443 (GRCm39) Y692H probably damaging Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Clec2m T C 6: 129,303,813 (GRCm39) probably benign Het
Crybg2 GAGAAGAAG GAGAAG 4: 133,799,947 (GRCm39) probably benign Het
Dnah2 T C 11: 69,390,064 (GRCm39) D727G probably benign Het
Dock10 C A 1: 80,513,650 (GRCm39) V1129F possibly damaging Het
Dsc1 A T 18: 20,221,411 (GRCm39) I688N possibly damaging Het
Dyrk1a C G 16: 94,464,701 (GRCm39) T103R probably damaging Het
Ebf1 C T 11: 44,815,297 (GRCm39) R304* probably null Het
Eif2s2 A G 2: 154,726,381 (GRCm39) probably benign Het
Endov T G 11: 119,390,397 (GRCm39) Y8* probably null Het
Eps15 T A 4: 109,223,677 (GRCm39) D485E probably damaging Het
Fam118a C A 15: 84,929,890 (GRCm39) S39R probably damaging Het
Fbxo22 T A 9: 55,130,910 (GRCm39) M393K possibly damaging Het
Firrm T C 1: 163,795,890 (GRCm39) I434V probably benign Het
Gapvd1 A G 2: 34,583,439 (GRCm39) L1059P probably benign Het
Gbp5 A G 3: 142,213,674 (GRCm39) probably null Het
Glb1l2 T A 9: 26,676,400 (GRCm39) K487* probably null Het
H1f1 A G 13: 23,948,141 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,591,573 (GRCm39) I1875M possibly damaging Het
Jkamp T C 12: 72,140,919 (GRCm39) probably null Het
Kprp C T 3: 92,733,020 (GRCm39) C10Y probably damaging Het
Lrig2 A G 3: 104,401,372 (GRCm39) probably null Het
Lrrn3 T A 12: 41,503,939 (GRCm39) N126I probably damaging Het
Mug1 T C 6: 121,833,513 (GRCm39) F325L probably benign Het
Myadm AC ACC 7: 3,345,276 (GRCm39) probably null Het
Nagk C T 6: 83,774,249 (GRCm39) R87* probably null Het
Nipal4 T A 11: 46,052,735 (GRCm39) I77F probably damaging Het
Or4c112 A G 2: 88,853,490 (GRCm39) Y286H probably damaging Het
Osbp2 T C 11: 3,769,932 (GRCm39) H250R probably damaging Het
Pcx T C 19: 4,657,670 (GRCm39) V378A possibly damaging Het
Pfkp T A 13: 6,643,246 (GRCm39) H524L probably benign Het
Picalm A T 7: 89,838,406 (GRCm39) N370I possibly damaging Het
Plcl2 A C 17: 50,914,983 (GRCm39) D664A possibly damaging Het
Ptpn5 G A 7: 46,732,884 (GRCm39) P320S probably benign Het
Scn3a T A 2: 65,356,326 (GRCm39) probably benign Het
Sfswap A G 5: 129,581,115 (GRCm39) D96G possibly damaging Het
Slfn1 A G 11: 83,012,096 (GRCm39) I71V probably benign Het
Spata1 A G 3: 146,181,943 (GRCm39) probably null Het
Stx18 T C 5: 38,262,349 (GRCm39) probably benign Het
Suox T A 10: 128,507,326 (GRCm39) H234L probably benign Het
Tbc1d17 T C 7: 44,495,483 (GRCm39) S114G probably benign Het
Tfeb T A 17: 48,099,224 (GRCm39) probably null Het
Tnks A C 8: 35,320,463 (GRCm39) V736G probably damaging Het
Wdhd1 T C 14: 47,514,045 (GRCm39) T4A 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
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
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'- ACAACGGACCCACTTGTTCATGTC -3'
(R):5'- GCTGATACCGTTTCCCCAACGTTAC -3'

Sequencing Primer
(F):5'- CTTCCTCACTATCTGCCACCAAG -3'
(R):5'- CCATTTGCTGTGTCATAAGAGAACTG -3'
Posted On 2013-05-23