Incidental Mutation 'IGL01567:Grb7'
ID91015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grb7
Ensembl Gene ENSMUSG00000019312
Gene Namegrowth factor receptor bound protein 7
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01567
Quality Score
Status
Chromosome11
Chromosomal Location98446394-98455373 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98454950 bp
ZygosityHeterozygous
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]
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: 76,421,880 S317G probably benign Het
Akna T C 4: 63,381,850 T652A probably benign Het
Anxa9 G A 3: 95,302,432 probably benign Het
Bpifb4 T A 2: 153,947,278 probably benign Het
Bptf A G 11: 107,058,774 S2125P probably damaging Het
Capns2 C A 8: 92,902,006 H174Q probably benign Het
Cd200 A C 16: 45,394,691 L199R probably damaging Het
Clasp2 T C 9: 113,880,096 V651A probably damaging Het
Cox18 G A 5: 90,217,588 Q251* probably null Het
Depdc1a T C 3: 159,526,546 S645P probably damaging Het
Dio3 T A 12: 110,279,427 C66S possibly damaging Het
Dock9 A T 14: 121,653,084 L258Q probably damaging Het
Ghrhr A G 6: 55,384,123 D274G probably damaging Het
Gm5129 A G 5: 29,735,864 probably benign Het
Kdm5b G A 1: 134,602,540 A430T probably damaging Het
Map10 C A 8: 125,671,493 Q542K probably benign Het
Metap1 T C 3: 138,462,389 T325A probably damaging Het
Ncan A T 8: 70,108,334 M661K probably benign Het
Olfr38 T C 6: 42,762,727 I225T probably benign Het
Olfr572 A G 7: 102,928,416 I263V probably benign Het
Otog T C 7: 46,276,615 probably benign Het
Pip4k2b T C 11: 97,729,561 D116G probably damaging Het
Rps15 T A 10: 80,293,809 L86Q probably benign Het
Sfxn4 G T 19: 60,853,898 T122K probably damaging Het
Slc4a3 T C 1: 75,550,882 V165A probably damaging Het
Spata48 A G 11: 11,515,015 H122R possibly damaging Het
Synm A G 7: 67,735,232 V452A probably damaging Het
Tdpoz1 T C 3: 93,670,706 H257R possibly damaging Het
Tmem26 A G 10: 68,751,231 T170A probably damaging Het
Wdfy4 T G 14: 33,151,661 E230D probably benign Het
Other mutations in Grb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Grb7 APN 11 98452274 unclassified probably benign
IGL01958:Grb7 APN 11 98454654 missense probably damaging 0.98
IGL03115:Grb7 APN 11 98451119 missense probably damaging 1.00
PIT4458001:Grb7 UTSW 11 98453829 nonsense probably null
R0455:Grb7 UTSW 11 98452188 missense probably benign 0.00
R0586:Grb7 UTSW 11 98453220 missense probably damaging 1.00
R0942:Grb7 UTSW 11 98453808 missense probably damaging 0.97
R2960:Grb7 UTSW 11 98452261 missense probably damaging 1.00
R3981:Grb7 UTSW 11 98454565 unclassified probably benign
R4194:Grb7 UTSW 11 98455055 unclassified probably benign
R4809:Grb7 UTSW 11 98451436 missense possibly damaging 0.86
R6033:Grb7 UTSW 11 98455197 unclassified probably null
R7120:Grb7 UTSW 11 98454991 missense probably benign
Posted On2013-12-09