Incidental Mutation 'IGL00975:Gm5458'
ID 306632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5458
Ensembl Gene ENSMUSG00000095024
Gene Name predicted gene 5458
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL00975
Quality Score
Status
Chromosome 14
Chromosomal Location 19644207-19652649 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19649735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 163 (L163P)
Ref Sequence ENSEMBL: ENSMUSP00000093833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096121]
AlphaFold L7N219
Predicted Effect
SMART Domains Protein: ENSMUSP00000093833
Gene: ENSMUSG00000095024
AA Change: L163P

DomainStartEndE-ValueType
Pfam:Takusan 46 129 1.8e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163800
AA Change: L163P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130345
Gene: ENSMUSG00000095024
AA Change: L163P

DomainStartEndE-ValueType
Pfam:Takusan 46 129 2.4e-32 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn10 A T 15: 85,220,666 (GRCm39) M1L probably benign Het
Atxn7l3 A G 11: 102,185,807 (GRCm39) S3P probably benign Het
Cep112 A G 11: 108,325,012 (GRCm39) D70G probably damaging Het
Col20a1 G A 2: 180,634,271 (GRCm39) A79T probably damaging Het
Cycs T A 6: 50,542,347 (GRCm39) D63V probably benign Het
Dis3 A G 14: 99,316,670 (GRCm39) V855A probably damaging Het
Dnah6 T A 6: 73,150,373 (GRCm39) I797F possibly damaging Het
Dpagt1 T C 9: 44,243,949 (GRCm39) probably null Het
Dst T C 1: 34,227,393 (GRCm39) I1840T possibly damaging Het
Epb41l3 C T 17: 69,514,856 (GRCm39) probably benign Het
Fam20c C T 5: 138,794,912 (GRCm39) H514Y probably benign Het
Fgd6 A T 10: 93,969,938 (GRCm39) M1196L probably damaging Het
Fmo3 T C 1: 162,791,599 (GRCm39) D226G probably benign Het
Fsd1l T C 4: 53,682,187 (GRCm39) L263P probably damaging Het
Gaa C A 11: 119,165,509 (GRCm39) T333K possibly damaging Het
Gm10530 T C 1: 159,512,444 (GRCm39) probably benign Het
Inpp5j T C 11: 3,452,176 (GRCm39) N358S probably damaging Het
Ms4a8a A G 19: 11,048,151 (GRCm39) L193P probably damaging Het
Neb T C 2: 52,102,740 (GRCm39) K4511R probably benign Het
Odad1 A T 7: 45,592,080 (GRCm39) K320I probably damaging Het
Or5an10 A G 19: 12,276,149 (GRCm39) S116P probably damaging Het
Pcca A G 14: 123,114,312 (GRCm39) D82G probably damaging Het
Pou2f3 T C 9: 43,048,679 (GRCm39) T266A probably benign Het
Ppp1r26 T A 2: 28,343,730 (GRCm39) L1120Q probably damaging Het
Pudp T G 18: 50,701,349 (GRCm39) K128T probably damaging Het
Rcn1 T C 2: 105,225,174 (GRCm39) T94A possibly damaging Het
Six5 T C 7: 18,831,603 (GRCm39) L698P probably damaging Het
Slc13a4 T A 6: 35,251,910 (GRCm39) M461L probably benign Het
Slc30a9 T C 5: 67,507,169 (GRCm39) V487A probably damaging Het
Tbx21 T C 11: 96,990,908 (GRCm39) I257V possibly damaging Het
Tg A G 15: 66,553,731 (GRCm39) D382G probably benign Het
Trim34b C A 7: 103,978,859 (GRCm39) C35* probably null Het
Usp47 A G 7: 111,692,577 (GRCm39) D1013G probably damaging Het
Other mutations in Gm5458
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Gm5458 APN 14 19,649,760 (GRCm39) missense probably damaging 0.99
IGL01116:Gm5458 APN 14 19,649,760 (GRCm39) missense probably damaging 0.99
IGL03083:Gm5458 APN 14 19,652,451 (GRCm39) splice site probably null
R6183:Gm5458 UTSW 14 19,649,712 (GRCm39) missense probably damaging 0.96
R7737:Gm5458 UTSW 14 19,649,805 (GRCm39) splice site probably null
Posted On 2015-04-16