Incidental Mutation 'IGL01567:Grb7'
ID 91015
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 # IGL01567
Quality Score
Status
Chromosome 11
Chromosomal Location 98337660-98346199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98345776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 518 (N518S)
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: N518S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019456
Gene: ENSMUSG00000019312
AA Change: N518S

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,071,628 (GRCm39) S317G probably benign Het
Akna T C 4: 63,300,087 (GRCm39) T652A probably benign Het
Anxa9 G A 3: 95,209,743 (GRCm39) probably benign Het
Bpifb4 T A 2: 153,789,198 (GRCm39) probably benign Het
Bptf A G 11: 106,949,600 (GRCm39) S2125P probably damaging Het
Capns2 C A 8: 93,628,634 (GRCm39) H174Q probably benign Het
Cd200 A C 16: 45,215,054 (GRCm39) L199R probably damaging Het
Clasp2 T C 9: 113,709,164 (GRCm39) V651A probably damaging Het
Cox18 G A 5: 90,365,447 (GRCm39) Q251* probably null Het
Depdc1a T C 3: 159,232,183 (GRCm39) S645P probably damaging Het
Dio3 T A 12: 110,245,861 (GRCm39) C66S possibly damaging Het
Dock9 A T 14: 121,890,496 (GRCm39) L258Q probably damaging Het
Ghrhr A G 6: 55,361,108 (GRCm39) D274G probably damaging Het
Gm5129 A G 5: 29,940,862 (GRCm39) probably benign Het
Kdm5b G A 1: 134,530,278 (GRCm39) A430T probably damaging Het
Map10 C A 8: 126,398,232 (GRCm39) Q542K probably benign Het
Metap1 T C 3: 138,168,150 (GRCm39) T325A probably damaging Het
Ncan A T 8: 70,560,984 (GRCm39) M661K probably benign Het
Or2f1b T C 6: 42,739,661 (GRCm39) I225T probably benign Het
Or51h5 A G 7: 102,577,623 (GRCm39) I263V probably benign Het
Otog T C 7: 45,926,039 (GRCm39) probably benign Het
Pip4k2b T C 11: 97,620,387 (GRCm39) D116G probably damaging Het
Rps15 T A 10: 80,129,643 (GRCm39) L86Q probably benign Het
Sfxn4 G T 19: 60,842,336 (GRCm39) T122K probably damaging Het
Slc4a3 T C 1: 75,527,526 (GRCm39) V165A probably damaging Het
Spmip7 A G 11: 11,465,015 (GRCm39) H122R possibly damaging Het
Synm A G 7: 67,384,980 (GRCm39) V452A probably damaging Het
Tdpoz1 T C 3: 93,578,013 (GRCm39) H257R possibly damaging Het
Tmem26 A G 10: 68,587,061 (GRCm39) T170A probably damaging Het
Wdfy4 T G 14: 32,873,618 (GRCm39) E230D probably benign Het
Other mutations in Grb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Grb7 APN 11 98,343,100 (GRCm39) unclassified probably benign
IGL01958:Grb7 APN 11 98,345,480 (GRCm39) missense probably damaging 0.98
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 2013-12-09