Incidental Mutation 'IGL01958:Grb7'
ID 181447
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grb7
Ensembl Gene ENSMUSG00000019312
Gene Name growth factor receptor bound protein 7
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01958
Quality Score
Status
Chromosome 11
Chromosomal Location 98337660-98346199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98345480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 480 (V480D)
Ref Sequence ENSEMBL: ENSMUSP00000019456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019456] [ENSMUST00000132771]
AlphaFold Q03160
Predicted Effect probably damaging
Transcript: ENSMUST00000019456
AA Change: V480D

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019456
Gene: ENSMUSG00000019312
AA Change: V480D

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
RA 99 185 1.22e-17 SMART
PH 229 343 1.19e-11 SMART
Pfam:BPS 368 415 3.6e-31 PFAM
SH2 432 521 4.34e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129034
Predicted Effect probably benign
Transcript: ENSMUST00000132771
SMART Domains Protein: ENSMUSP00000119926
Gene: ENSMUSG00000019312

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
Pfam:RA 99 138 6.9e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156328
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,629,659 (GRCm39) I29T probably damaging Het
Agps G A 2: 75,740,045 (GRCm39) probably null Het
Agxt2 A G 15: 10,393,794 (GRCm39) probably null Het
Ahnak T C 19: 8,992,273 (GRCm39) V4519A possibly damaging Het
Aktip T C 8: 91,852,853 (GRCm39) D159G probably damaging Het
Ankrd44 T C 1: 54,806,125 (GRCm39) I94V probably damaging Het
Asph T C 4: 9,474,904 (GRCm39) E674G possibly damaging Het
Atat1 T A 17: 36,219,735 (GRCm39) probably benign Het
Ccar1 G A 10: 62,626,714 (GRCm39) A20V possibly damaging Het
Cdc26 T C 4: 62,321,001 (GRCm39) D14G probably damaging Het
Cdh15 T C 8: 123,586,089 (GRCm39) F156S probably damaging Het
Dctn1 A G 6: 83,168,326 (GRCm39) T525A possibly damaging Het
Dnah8 T G 17: 31,074,869 (GRCm39) probably benign Het
Dnajc10 T A 2: 80,151,648 (GRCm39) probably benign Het
Dtl C A 1: 191,300,489 (GRCm39) W125L probably damaging Het
Fam3c G A 6: 22,318,954 (GRCm39) T149I probably damaging Het
Fgd6 A G 10: 93,974,170 (GRCm39) T1304A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm6578 A G 6: 12,099,766 (GRCm39) noncoding transcript Het
Gnai1 A G 5: 18,478,568 (GRCm39) F199S probably damaging Het
Hdc A G 2: 126,436,452 (GRCm39) L473P possibly damaging Het
Hmcn1 T C 1: 150,479,622 (GRCm39) N4614S probably benign Het
Il20ra A G 10: 19,634,791 (GRCm39) D344G probably benign Het
Ints1 C T 5: 139,745,843 (GRCm39) R1342Q possibly damaging Het
Itga9 T A 9: 118,465,562 (GRCm39) probably benign Het
Kat14 T C 2: 144,236,285 (GRCm39) L339P probably damaging Het
Klhl22 A G 16: 17,594,326 (GRCm39) I152V probably benign Het
Krtap5-2 C A 7: 141,729,459 (GRCm39) G74* probably null Het
Lrrc59 C A 11: 94,529,354 (GRCm39) probably null Het
Map3k13 A G 16: 21,710,873 (GRCm39) Q52R probably benign Het
Mb21d2 A G 16: 28,646,495 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,463,053 (GRCm39) probably benign Het
Myrf A G 19: 10,187,742 (GRCm39) probably benign Het
Nek11 T C 9: 105,177,502 (GRCm39) T250A probably benign Het
Nek5 A T 8: 22,586,842 (GRCm39) V323E probably benign Het
Nfasc A T 1: 132,536,176 (GRCm39) C586* probably null Het
Nup210l T A 3: 90,111,231 (GRCm39) L1711Q possibly damaging Het
Parp8 T G 13: 117,013,108 (GRCm39) K644Q probably benign Het
Pcnt G T 10: 76,269,513 (GRCm39) Q252K probably damaging Het
Pianp A G 6: 124,977,646 (GRCm39) T181A possibly damaging Het
Pkd1 T C 17: 24,799,298 (GRCm39) V2839A probably damaging Het
Poli C T 18: 70,659,657 (GRCm39) R58H possibly damaging Het
Ptk7 T C 17: 46,890,353 (GRCm39) D447G probably benign Het
Rapgef5 A G 12: 117,694,386 (GRCm39) I637V probably benign Het
Rasip1 A T 7: 45,286,188 (GRCm39) R804* probably null Het
Relt A G 7: 100,500,350 (GRCm39) V113A probably benign Het
Rnf215 G T 11: 4,090,317 (GRCm39) C345F probably damaging Het
Scart2 T C 7: 139,854,040 (GRCm39) C348R probably damaging Het
Scn2a A G 2: 65,532,173 (GRCm39) D595G probably damaging Het
Serpina3k G A 12: 104,307,316 (GRCm39) V183M probably damaging Het
Snapc4 T C 2: 26,256,452 (GRCm39) probably benign Het
Sparcl1 A T 5: 104,240,406 (GRCm39) D339E probably benign Het
Tg T C 15: 66,631,335 (GRCm39) F535L probably benign Het
Zbtb45 C A 7: 12,740,203 (GRCm39) A471S probably benign Het
Zfp106 T A 2: 120,365,288 (GRCm39) K373M probably benign Het
Other mutations in Grb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Grb7 APN 11 98,343,100 (GRCm39) unclassified probably benign
IGL01567:Grb7 APN 11 98,345,776 (GRCm39) missense probably damaging 1.00
IGL03115:Grb7 APN 11 98,341,945 (GRCm39) missense probably damaging 1.00
PIT4458001:Grb7 UTSW 11 98,344,655 (GRCm39) nonsense probably null
R0455:Grb7 UTSW 11 98,343,014 (GRCm39) missense probably benign 0.00
R0586:Grb7 UTSW 11 98,344,046 (GRCm39) missense probably damaging 1.00
R0942:Grb7 UTSW 11 98,344,634 (GRCm39) missense probably damaging 0.97
R2960:Grb7 UTSW 11 98,343,087 (GRCm39) missense probably damaging 1.00
R3981:Grb7 UTSW 11 98,345,391 (GRCm39) unclassified probably benign
R4194:Grb7 UTSW 11 98,345,881 (GRCm39) unclassified probably benign
R4809:Grb7 UTSW 11 98,342,262 (GRCm39) missense possibly damaging 0.86
R6033:Grb7 UTSW 11 98,346,023 (GRCm39) splice site probably null
R7120:Grb7 UTSW 11 98,345,817 (GRCm39) missense probably benign
R9280:Grb7 UTSW 11 98,345,248 (GRCm39) missense probably damaging 0.99
Z1176:Grb7 UTSW 11 98,345,310 (GRCm39) missense probably damaging 1.00
Z1176:Grb7 UTSW 11 98,344,797 (GRCm39) critical splice acceptor site probably null
Posted On 2014-05-07