Incidental Mutation 'IGL00840:Gm4763'
ID13502
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: 0.019) question?
Stock #IGL00840
Quality Score
Status
Chromosome7
Chromosomal Location24715023-24726908 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 24723506 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 129 (L129H)
Ref Sequence ENSEMBL: ENSMUSP00000145595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081657] [ENSMUST00000205376]
Predicted Effect possibly damaging
Transcript: ENSMUST00000081657
AA Change: L77H

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080361
Gene: ENSMUSG00000058717
AA Change: L77H

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: L129H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206243
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T C 15: 94,282,482 Y1764C probably damaging Het
Agbl3 T C 6: 34,799,159 V200A possibly damaging Het
Akr1b10 T C 6: 34,394,106 S264P possibly damaging Het
Camkmt T G 17: 85,458,123 L319* probably null Het
Cdhr2 T C 13: 54,720,152 W513R probably damaging Het
Cts8 T C 13: 61,251,578 Y189C probably damaging Het
Cyp2d10 T A 15: 82,404,490 T264S probably benign Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dnah8 G A 17: 30,790,941 V3769M probably damaging Het
Dnajc16 C A 4: 141,768,003 G468V probably damaging Het
Eif3d A T 15: 77,961,869 N351K probably benign Het
F5 T C 1: 164,179,524 M299T probably benign Het
Fcamr G A 1: 130,813,214 V457M probably benign Het
Heatr5b A G 17: 78,765,437 L1599P probably damaging Het
Kl A T 5: 150,980,787 I335F possibly damaging Het
Knop1 A G 7: 118,852,798 Y233H probably damaging Het
Lhcgr T C 17: 88,753,736 probably benign Het
Macrod2 A T 2: 142,176,658 N237I possibly damaging Het
Myo7a T C 7: 98,051,659 S2168G probably benign Het
Naxe T C 3: 88,057,983 I108V probably benign Het
Ncbp1 T A 4: 46,161,307 W428R probably damaging Het
Nxpe3 T C 16: 55,844,232 I542V probably damaging Het
Phkb T A 8: 85,957,587 S424R probably benign Het
Rgs20 C T 1: 5,070,015 V55I probably benign Het
Ros1 T G 10: 52,144,873 T648P possibly damaging Het
Rpgr T C X: 10,208,709 I233V possibly damaging Het
Slc25a31 T C 3: 40,724,877 S258P probably benign Het
Soat1 A C 1: 156,434,196 V414G probably damaging Het
St18 A T 1: 6,833,594 E693V probably damaging Het
Svil T C 18: 5,063,555 V1029A probably benign Het
Tnfaip3 C A 10: 19,005,126 V398L probably damaging Het
Ubap1 A G 4: 41,379,562 T259A probably benign Het
Wdr7 A G 18: 63,927,327 E1347G possibly damaging Het
Other mutations in Gm4763
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02953:Gm4763 APN 7 24723566 missense probably damaging 1.00
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
X0062:Gm4763 UTSW 7 24723299 missense probably damaging 1.00
Posted On2012-12-06