Incidental Mutation 'IGL03297:Ifitm6'
ID 416125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifitm6
Ensembl Gene ENSMUSG00000059108
Gene Name interferon induced transmembrane protein 6
Synonyms fragilis5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03297
Quality Score
Status
Chromosome 7
Chromosomal Location 140595725-140596805 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140595948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 115 (Y115C)
Ref Sequence ENSEMBL: ENSMUSP00000147821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081924] [ENSMUST00000209328] [ENSMUST00000211330]
AlphaFold A0A1B0GS75
Predicted Effect probably damaging
Transcript: ENSMUST00000081924
AA Change: Y95C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080594
Gene: ENSMUSG00000059108
AA Change: Y95C

DomainStartEndE-ValueType
Pfam:CD225 10 91 2.3e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209328
AA Change: Y95C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000211330
AA Change: Y115C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,341,663 (GRCm39) G1624S probably damaging Het
Adhfe1 A G 1: 9,620,173 (GRCm39) probably benign Het
Ano6 C A 15: 95,860,158 (GRCm39) T760N probably damaging Het
Camsap2 T C 1: 136,225,539 (GRCm39) M196V probably benign Het
Cd209d T C 8: 3,928,476 (GRCm39) D3G possibly damaging Het
Cdh5 T A 8: 104,854,831 (GRCm39) F253Y probably damaging Het
Cnot10 T C 9: 114,427,784 (GRCm39) E610G possibly damaging Het
Cnot4 T C 6: 35,001,158 (GRCm39) N579S probably benign Het
Csmd1 G T 8: 16,059,432 (GRCm39) S2101* probably null Het
Dgkq C A 5: 108,798,140 (GRCm39) R706L probably damaging Het
Gm5422 T C 10: 31,125,727 (GRCm39) noncoding transcript Het
Gpr34 A G X: 13,505,681 (GRCm39) Y70C probably damaging Het
Herc6 T A 6: 57,639,374 (GRCm39) L914Q probably benign Het
Iqcg G T 16: 32,856,002 (GRCm39) probably benign Het
Myo15a A G 11: 60,369,967 (GRCm39) D909G probably damaging Het
Nefl A G 14: 68,321,673 (GRCm39) T88A possibly damaging Het
Nfatc2 T A 2: 168,378,138 (GRCm39) N509I probably damaging Het
Nkd1 T C 8: 89,300,902 (GRCm39) probably benign Het
Npas2 T C 1: 39,331,771 (GRCm39) V62A possibly damaging Het
Oas2 T G 5: 120,873,150 (GRCm39) D635A possibly damaging Het
Obscn C T 11: 58,951,712 (GRCm39) V4014M possibly damaging Het
Ogfr C A 2: 180,236,200 (GRCm39) H262N possibly damaging Het
Or10aa1 T G 1: 173,869,683 (GRCm39) S56A probably benign Het
Or8b49 A T 9: 38,505,821 (GRCm39) L101F probably benign Het
Pa2g4 T C 10: 128,399,105 (GRCm39) D104G probably damaging Het
Parp11 T C 6: 127,467,045 (GRCm39) probably benign Het
Ppp2r5a C T 1: 191,086,959 (GRCm39) V360I probably benign Het
Ptpn13 A T 5: 103,688,943 (GRCm39) K912I probably benign Het
Sec16a A G 2: 26,329,202 (GRCm39) S938P probably benign Het
Slc15a1 A C 14: 121,724,096 (GRCm39) I170S probably damaging Het
Smchd1 T C 17: 71,656,695 (GRCm39) N1924S probably benign Het
Sprr4 G A 3: 92,407,731 (GRCm39) P24S unknown Het
Trim30b A T 7: 104,015,102 (GRCm39) N95K probably benign Het
Tyw1 C T 5: 130,369,575 (GRCm39) A687V probably damaging Het
Vmn2r14 T A 5: 109,363,973 (GRCm39) I648F probably damaging Het
Vmn2r78 T A 7: 86,569,969 (GRCm39) C162* probably null Het
Other mutations in Ifitm6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01469:Ifitm6 APN 7 140,596,725 (GRCm39) missense probably damaging 0.98
PIT4802001:Ifitm6 UTSW 7 140,596,648 (GRCm39) missense probably damaging 1.00
R0076:Ifitm6 UTSW 7 140,595,920 (GRCm39) missense possibly damaging 0.53
R4007:Ifitm6 UTSW 7 140,596,627 (GRCm39) missense possibly damaging 0.86
R4418:Ifitm6 UTSW 7 140,595,984 (GRCm39) missense probably damaging 0.96
R5558:Ifitm6 UTSW 7 140,595,985 (GRCm39) missense probably benign 0.02
R6778:Ifitm6 UTSW 7 140,596,056 (GRCm39) missense possibly damaging 0.93
R8742:Ifitm6 UTSW 7 140,596,008 (GRCm39) missense probably benign 0.04
R8995:Ifitm6 UTSW 7 140,596,617 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02