Incidental Mutation 'IGL02275:Gm6483'
ID 287299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm6483
Ensembl Gene ENSMUSG00000087153
Gene Name predicted gene 6483
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.280) question?
Stock # IGL02275
Quality Score
Status
Chromosome 8
Chromosomal Location 19682268-19698275 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19691613 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 55 (P55S)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000127799
AA Change: P55S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119559
Gene: ENSMUSG00000087153
AA Change: P55S

DomainStartEndE-ValueType
CA 30 115 1.02e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133001
AA Change: P258S
Predicted Effect probably damaging
Transcript: ENSMUST00000153710
AA Change: P55S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116798
Gene: ENSMUSG00000087153
AA Change: P55S

DomainStartEndE-ValueType
CA 30 115 1.02e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155660
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T A 16: 3,906,282 (GRCm38) D130V probably damaging Het
4930596D02Rik T C 14: 35,811,923 (GRCm38) T9A probably benign Het
Anapc1 C A 2: 128,659,852 (GRCm38) A757S probably benign Het
Bpifa6 A T 2: 153,992,272 (GRCm38) D328V probably benign Het
Casc1 T C 6: 145,177,364 (GRCm38) Y592C probably damaging Het
Cdh19 T A 1: 110,925,886 (GRCm38) K275I probably benign Het
Col18a1 A G 10: 77,059,383 (GRCm38) I1148T possibly damaging Het
Commd1 A T 11: 22,900,017 (GRCm38) V222D probably damaging Het
Crim1 T A 17: 78,369,998 (GRCm38) M876K possibly damaging Het
Dennd1b C A 1: 139,081,254 (GRCm38) H232N probably damaging Het
Dhx57 T C 17: 80,274,839 (GRCm38) T393A probably benign Het
Gabrb2 G T 11: 42,591,894 (GRCm38) R193L probably benign Het
Gm5828 T A 1: 16,769,118 (GRCm38) noncoding transcript Het
Hsp90ab1 T C 17: 45,568,438 (GRCm38) Y619C possibly damaging Het
Kctd19 A G 8: 105,396,374 (GRCm38) I136T probably damaging Het
Olfr134 G T 17: 38,175,686 (GRCm38) V201L probably benign Het
Olfr1361 A C 13: 21,659,000 (GRCm38) F108V probably benign Het
Sel1l T C 12: 91,815,015 (GRCm38) Y532C probably damaging Het
Sirpb1a A G 3: 15,410,409 (GRCm38) probably null Het
Ush2a C T 1: 188,263,269 (GRCm38) T79M possibly damaging Het
Usp24 T C 4: 106,387,493 (GRCm38) V1215A probably damaging Het
Vdac3-ps1 T C 13: 18,030,794 (GRCm38) noncoding transcript Het
Vmn2r75 T C 7: 86,165,140 (GRCm38) T382A probably benign Het
Vps53 T C 11: 76,047,123 (GRCm38) Y728C probably benign Het
Other mutations in Gm6483
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Gm6483 APN 8 19,691,647 (GRCm38) splice site noncoding transcript
IGL01710:Gm6483 APN 8 19,691,613 (GRCm38) missense probably damaging 1.00
IGL02676:Gm6483 APN 8 19,693,659 (GRCm38) exon noncoding transcript
R0617:Gm6483 UTSW 8 19,693,709 (GRCm38) missense probably damaging 1.00
R4152:Gm6483 UTSW 8 19,687,910 (GRCm38) splice site noncoding transcript
R5043:Gm6483 UTSW 8 19,693,670 (GRCm38) missense probably benign 0.34
Posted On 2015-04-16