Incidental Mutation 'IGL02275:Gm6483'
ID287299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm6483
Ensembl Gene ENSMUSG00000087153
Gene Namepredicted gene 6483
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #IGL02275
Quality Score
Status
Chromosome8
Chromosomal Location19682268-19698275 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 19691613 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 55 (P55S)
Gene Model predicted gene model for transcript(s):
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 D130V probably damaging Het
4930596D02Rik T C 14: 35,811,923 T9A probably benign Het
Anapc1 C A 2: 128,659,852 A757S probably benign Het
Bpifa6 A T 2: 153,992,272 D328V probably benign Het
Casc1 T C 6: 145,177,364 Y592C probably damaging Het
Cdh19 T A 1: 110,925,886 K275I probably benign Het
Col18a1 A G 10: 77,059,383 I1148T possibly damaging Het
Commd1 A T 11: 22,900,017 V222D probably damaging Het
Crim1 T A 17: 78,369,998 M876K possibly damaging Het
Dennd1b C A 1: 139,081,254 H232N probably damaging Het
Dhx57 T C 17: 80,274,839 T393A probably benign Het
Gabrb2 G T 11: 42,591,894 R193L probably benign Het
Gm5828 T A 1: 16,769,118 noncoding transcript Het
Hsp90ab1 T C 17: 45,568,438 Y619C possibly damaging Het
Kctd19 A G 8: 105,396,374 I136T probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr1361 A C 13: 21,659,000 F108V probably benign Het
Sel1l T C 12: 91,815,015 Y532C probably damaging Het
Sirpb1a A G 3: 15,410,409 probably null Het
Ush2a C T 1: 188,263,269 T79M possibly damaging Het
Usp24 T C 4: 106,387,493 V1215A probably damaging Het
Vdac3-ps1 T C 13: 18,030,794 noncoding transcript Het
Vmn2r75 T C 7: 86,165,140 T382A probably benign Het
Vps53 T C 11: 76,047,123 Y728C probably benign Het
Other mutations in Gm6483
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Gm6483 APN 8 19691647 splice site noncoding transcript
IGL01710:Gm6483 APN 8 19691613 missense probably damaging 1.00
IGL02676:Gm6483 APN 8 19693659 exon noncoding transcript
R0617:Gm6483 UTSW 8 19693709 missense probably damaging 1.00
R4152:Gm6483 UTSW 8 19687910 splice site noncoding transcript
R5043:Gm6483 UTSW 8 19693670 missense probably benign 0.34
Posted On2015-04-16