Incidental Mutation 'IGL02822:Ifitm1'
ID 361047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifitm1
Ensembl Gene ENSMUSG00000025491
Gene Name interferon induced transmembrane protein 1
Synonyms 1110036C17Rik, fragilis2, Mil2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02822
Quality Score
Status
Chromosome 7
Chromosomal Location 140547342-140549740 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140548191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 8 (V8A)
Ref Sequence ENSEMBL: ENSMUSP00000101657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026564] [ENSMUST00000106040] [ENSMUST00000106042]
AlphaFold Q9D103
Predicted Effect possibly damaging
Transcript: ENSMUST00000026564
AA Change: V8A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026564
Gene: ENSMUSG00000025491
AA Change: V8A

DomainStartEndE-ValueType
Pfam:Dispanin 18 101 1.3e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106040
AA Change: V8A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101655
Gene: ENSMUSG00000025491
AA Change: V8A

DomainStartEndE-ValueType
Pfam:Dispanin 18 101 1.3e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106042
AA Change: V8A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101657
Gene: ENSMUSG00000025491
AA Change: V8A

DomainStartEndE-ValueType
Pfam:CD225 24 101 2.9e-31 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice exhibited enhanced motor coordination during inverted screen testing when compared with that of their wild-type littermates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T C 16: 88,971,683 (GRCm39) C2R unknown Het
Aldh1a7 A G 19: 20,679,630 (GRCm39) V382A possibly damaging Het
Asap2 T C 12: 21,315,911 (GRCm39) V943A probably damaging Het
Bod1l C T 5: 41,951,688 (GRCm39) V2908M possibly damaging Het
Casd1 C T 6: 4,630,017 (GRCm39) T471I probably damaging Het
Cd200l1 T C 16: 45,262,968 (GRCm39) Y57C probably damaging Het
Col20a1 T C 2: 180,638,600 (GRCm39) Y405H probably damaging Het
Elp1 A G 4: 56,774,520 (GRCm39) probably null Het
Evi5l T C 8: 4,237,248 (GRCm39) I117T probably damaging Het
Fbxw5 A G 2: 25,393,022 (GRCm39) N164S probably benign Het
Fga A G 3: 82,938,789 (GRCm39) E388G probably damaging Het
Fgfr1 A G 8: 26,047,818 (GRCm39) T55A probably benign Het
Gdpd4 T C 7: 97,621,131 (GRCm39) V148A possibly damaging Het
Gsap T A 5: 21,422,442 (GRCm39) V137D probably damaging Het
Hsdl2 A G 4: 59,601,379 (GRCm39) H117R possibly damaging Het
Htr4 T A 18: 62,561,255 (GRCm39) probably benign Het
Kdelr1 A G 7: 45,523,288 (GRCm39) probably benign Het
Klra6 G T 6: 129,993,673 (GRCm39) Y199* probably null Het
Matcap1 T C 8: 106,011,330 (GRCm39) Y268C probably damaging Het
Mmp21 C T 7: 133,277,828 (GRCm39) D333N possibly damaging Het
Mocs1 T C 17: 49,746,597 (GRCm39) F189S probably damaging Het
Myo18b C T 5: 112,923,211 (GRCm39) A1849T probably damaging Het
Naca C A 10: 127,875,214 (GRCm39) probably benign Het
Nbea A T 3: 55,926,868 (GRCm39) H778Q possibly damaging Het
Nlrp4c C T 7: 6,068,726 (GRCm39) P209L probably damaging Het
Or10q1b A G 19: 13,683,019 (GRCm39) D276G probably benign Het
Or14j1 T C 17: 38,146,534 (GRCm39) Y215H possibly damaging Het
Or4a81 A G 2: 89,619,444 (GRCm39) L84P possibly damaging Het
Osbpl9 A G 4: 108,930,118 (GRCm39) S258P probably damaging Het
Pclaf A G 9: 65,808,875 (GRCm39) E108G possibly damaging Het
Pira13 T A 7: 3,819,917 (GRCm39) T549S possibly damaging Het
Pla2r1 C A 2: 60,285,517 (GRCm39) C699F probably damaging Het
Pnkp A G 7: 44,511,848 (GRCm39) Y120C probably damaging Het
Psme4 T A 11: 30,798,204 (GRCm39) probably benign Het
Rad54l2 A G 9: 106,587,606 (GRCm39) S720P probably damaging Het
Rasa1 T C 13: 85,400,633 (GRCm39) H301R probably damaging Het
Spg11 C A 2: 121,905,015 (GRCm39) W1316L probably damaging Het
Ube2t C T 1: 134,901,688 (GRCm39) probably benign Het
Vmn2r94 T A 17: 18,463,882 (GRCm39) I803F probably benign Het
Other mutations in Ifitm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Ifitm1 APN 7 140,549,537 (GRCm39) makesense probably null
IGL00931:Ifitm1 APN 7 140,548,169 (GRCm39) start codon destroyed probably damaging 1.00
IGL02048:Ifitm1 APN 7 140,548,205 (GRCm39) missense probably benign
R0332:Ifitm1 UTSW 7 140,548,366 (GRCm39) splice site probably benign
R0445:Ifitm1 UTSW 7 140,548,354 (GRCm39) splice site probably null
R0595:Ifitm1 UTSW 7 140,548,242 (GRCm39) missense possibly damaging 0.88
R0655:Ifitm1 UTSW 7 140,549,449 (GRCm39) missense probably benign 0.01
R1344:Ifitm1 UTSW 7 140,548,263 (GRCm39) missense probably benign 0.02
R2092:Ifitm1 UTSW 7 140,549,427 (GRCm39) missense probably damaging 1.00
R2411:Ifitm1 UTSW 7 140,549,711 (GRCm39) splice site probably null
R6481:Ifitm1 UTSW 7 140,549,519 (GRCm39) missense probably benign 0.00
R7805:Ifitm1 UTSW 7 140,548,282 (GRCm39) nonsense probably null
R8888:Ifitm1 UTSW 7 140,549,499 (GRCm39) missense probably damaging 0.98
R8895:Ifitm1 UTSW 7 140,549,499 (GRCm39) missense probably damaging 0.98
R9604:Ifitm1 UTSW 7 140,548,227 (GRCm39) missense probably benign 0.00
Z1176:Ifitm1 UTSW 7 140,549,430 (GRCm39) missense probably benign 0.01
Posted On 2015-12-18