Incidental Mutation 'IGL00333:Ifitm1'
ID 5099
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 # IGL00333
Quality Score
Status
Chromosome 7
Chromosomal Location 140547342-140549740 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 140549537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 107 (*107R)
Ref Sequence ENSEMBL: ENSMUSP00000101657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026564] [ENSMUST00000106040] [ENSMUST00000106042]
AlphaFold Q9D103
Predicted Effect probably null
Transcript: ENSMUST00000026564
AA Change: *107R
SMART Domains Protein: ENSMUSP00000026564
Gene: ENSMUSG00000025491
AA Change: *107R

DomainStartEndE-ValueType
Pfam:Dispanin 18 101 1.3e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106040
AA Change: *107R
SMART Domains Protein: ENSMUSP00000101655
Gene: ENSMUSG00000025491
AA Change: *107R

DomainStartEndE-ValueType
Pfam:Dispanin 18 101 1.3e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106042
AA Change: *107R
SMART Domains Protein: ENSMUSP00000101657
Gene: ENSMUSG00000025491
AA Change: *107R

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atosa T C 9: 74,933,072 (GRCm39) I1006T probably benign Het
Atp8b3 C T 10: 80,366,821 (GRCm39) C259Y probably damaging Het
Bag6 T G 17: 35,363,627 (GRCm39) D770E probably damaging Het
Ccdc8 T A 7: 16,729,967 (GRCm39) D485E unknown Het
Cyp2c54 A C 19: 40,060,522 (GRCm39) V153G probably damaging Het
Haus8 A G 8: 71,708,289 (GRCm39) probably null Het
Hgf A T 5: 16,816,880 (GRCm39) T499S possibly damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Klk1b27 T A 7: 43,705,567 (GRCm39) probably null Het
Lpin2 C A 17: 71,550,967 (GRCm39) T709K probably damaging Het
Lrig3 T C 10: 125,849,017 (GRCm39) L945P probably benign Het
Lrrn4 C T 2: 132,712,737 (GRCm39) C362Y probably damaging Het
Map3k20 T C 2: 72,202,320 (GRCm39) S184P probably damaging Het
Nr2f1 A T 13: 78,337,952 (GRCm39) V231E probably damaging Het
Or12d13 A T 17: 37,647,474 (GRCm39) Y216* probably null Het
Orc1 T C 4: 108,452,522 (GRCm39) probably benign Het
Osr1 A C 12: 9,629,432 (GRCm39) I102L probably benign Het
Pcbd1 A T 10: 60,927,949 (GRCm39) Q37L probably benign Het
Pclo C T 5: 14,571,691 (GRCm39) Q359* probably null Het
Rpgrip1 A T 14: 52,387,895 (GRCm39) probably null Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Speer4a2 A G 5: 26,291,491 (GRCm39) M105T possibly damaging Het
Sspo A G 6: 48,447,387 (GRCm39) T2184A probably benign Het
Synpo2 C T 3: 122,906,859 (GRCm39) G819D probably damaging Het
Taar8b A G 10: 23,967,654 (GRCm39) V180A possibly damaging Het
Tbc1d8 T C 1: 39,433,210 (GRCm39) D324G probably damaging Het
Tcaf2 A T 6: 42,606,970 (GRCm39) L328* probably null Het
Tmem253 T C 14: 52,255,418 (GRCm39) L76P probably damaging Het
Tsc1 G A 2: 28,551,623 (GRCm39) V46I probably damaging Het
Ttn A T 2: 76,779,425 (GRCm39) F1152I probably benign Het
Txnrd2 T C 16: 18,257,101 (GRCm39) V139A probably damaging Het
Ublcp1 T C 11: 44,351,597 (GRCm39) D212G probably damaging Het
Utrn A T 10: 12,547,574 (GRCm39) L1622Q probably damaging Het
Vmn2r103 A G 17: 20,013,364 (GRCm39) T162A probably damaging Het
Other mutations in Ifitm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02822:Ifitm1 APN 7 140,548,191 (GRCm39) missense possibly damaging 0.80
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 2012-04-20