Incidental Mutation 'IGL02953:Gm4763'
ID364990
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4763
Ensembl Gene ENSMUSG00000058717
Gene Namepredicted gene 4763
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL02953
Quality Score
Status
Chromosome7
Chromosomal Location24715023-24726908 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 24723566 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 109 (C109Y)
Ref Sequence ENSEMBL: ENSMUSP00000145595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081657] [ENSMUST00000205376]
Predicted Effect probably damaging
Transcript: ENSMUST00000081657
AA Change: C57Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000080361
Gene: ENSMUSG00000058717
AA Change: C57Y

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
Pfam:UPAR_LY6 88 165 1.2e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205376
AA Change: C109Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206243
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,773,646 S169P possibly damaging Het
Adap2 G A 11: 80,154,300 G29R probably damaging Het
Adcy2 A T 13: 68,729,328 I431N probably damaging Het
Amer3 T C 1: 34,587,796 V372A probably damaging Het
Aspm T A 1: 139,457,419 V267D probably benign Het
Atp6v0b A T 4: 117,885,222 V111E probably damaging Het
Clmp T A 9: 40,774,387 L193Q probably damaging Het
Dcaf7 T G 11: 106,051,876 Y216* probably null Het
Dcbld2 T A 16: 58,451,737 D385E probably benign Het
Des T A 1: 75,363,644 D398E possibly damaging Het
Fancm C T 12: 65,121,966 T1701I probably benign Het
Fat1 C A 8: 45,024,314 D2132E probably damaging Het
Fkbp14 T C 6: 54,579,682 K161R probably damaging Het
Fopnl T C 16: 14,304,475 K142E probably benign Het
Fuca2 C T 10: 13,507,429 probably benign Het
Habp2 T A 19: 56,314,232 probably null Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Herc3 C T 6: 58,857,733 Q242* probably null Het
Igkv4-81 T C 6: 68,990,997 K40R probably benign Het
Irf5 C A 6: 29,536,672 H461N possibly damaging Het
Nav2 G A 7: 49,548,423 V1267M probably damaging Het
Nlk A G 11: 78,626,701 V155A probably benign Het
Nup214 C T 2: 31,988,229 H303Y possibly damaging Het
Pld1 A C 3: 28,112,247 M812L probably benign Het
Rab11fip3 C A 17: 26,067,679 R500L possibly damaging Het
Secisbp2l C T 2: 125,760,274 E389K probably benign Het
Serpina3a C T 12: 104,116,489 R174C probably benign Het
Spef2 T C 15: 9,713,243 R405G possibly damaging Het
Srpx A T X: 10,117,467 probably benign Het
St18 T A 1: 6,844,113 probably benign Het
Tcerg1 C T 18: 42,548,470 P561S probably damaging Het
Topbp1 T A 9: 103,328,435 N757K probably benign Het
Trrap G T 5: 144,815,964 L1782F probably damaging Het
Tut1 G T 19: 8,962,692 V347L probably damaging Het
Txnip T A 3: 96,558,366 V44D probably damaging Het
Usp8 C T 2: 126,737,937 T369I probably benign Het
Zzef1 A G 11: 72,855,398 N842S probably benign Het
Other mutations in Gm4763
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Gm4763 APN 7 24723506 missense probably damaging 0.99
IGL03349:Gm4763 APN 7 24722836 missense probably damaging 0.99
R0144:Gm4763 UTSW 7 24723590 missense possibly damaging 0.85
R0485:Gm4763 UTSW 7 24722745 missense possibly damaging 0.84
R0652:Gm4763 UTSW 7 24724197 missense possibly damaging 0.96
R0899:Gm4763 UTSW 7 24723312 missense probably benign 0.00
R0963:Gm4763 UTSW 7 24723622 missense probably benign 0.00
R5290:Gm4763 UTSW 7 24723411 missense probably benign 0.04
R6134:Gm4763 UTSW 7 24726056 missense probably damaging 1.00
R7128:Gm4763 UTSW 7 24725999 critical splice donor site probably null
R7191:Gm4763 UTSW 7 24723334 missense possibly damaging 0.88
X0062:Gm4763 UTSW 7 24723299 missense probably damaging 1.00
Posted On2015-12-18