Incidental Mutation 'IGL00333:Ifitm1'
ID5099
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifitm1
Ensembl Gene ENSMUSG00000025491
Gene Nameinterferon induced transmembrane protein 1
Synonyms1110036C17Rik, Mil2, fragilis2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00333
Quality Score
Status
Chromosome7
Chromosomal Location140967221-140969825 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to A at 140969624 bp
ZygosityHeterozygous
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]
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
Atp8b3 C T 10: 80,530,987 C259Y probably damaging Het
Bag6 T G 17: 35,144,651 D770E probably damaging Het
Ccdc8 T A 7: 16,996,042 D485E unknown Het
Cyp2c54 A C 19: 40,072,078 V153G probably damaging Het
Fam214a T C 9: 75,025,790 I1006T probably benign Het
Gm10471 A G 5: 26,086,493 M105T possibly damaging Het
Haus8 A G 8: 71,255,645 probably null Het
Hgf A T 5: 16,611,882 T499S possibly damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Klk1b27 T A 7: 44,056,143 probably null Het
Lpin2 C A 17: 71,243,972 T709K probably damaging Het
Lrig3 T C 10: 126,013,148 L945P probably benign Het
Lrrn4 C T 2: 132,870,817 C362Y probably damaging Het
Map3k20 T C 2: 72,371,976 S184P probably damaging Het
Nr2f1 A T 13: 78,189,833 V231E probably damaging Het
Olfr103 A T 17: 37,336,583 Y216* probably null Het
Orc1 T C 4: 108,595,325 probably benign Het
Osr1 A C 12: 9,579,432 I102L probably benign Het
Pcbd1 A T 10: 61,092,170 Q37L probably benign Het
Pclo C T 5: 14,521,677 Q359* probably null Het
Rpgrip1 A T 14: 52,150,438 probably null Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Sspo A G 6: 48,470,453 T2184A probably benign Het
Synpo2 C T 3: 123,113,210 G819D probably damaging Het
Taar8b A G 10: 24,091,756 V180A possibly damaging Het
Tbc1d8 T C 1: 39,394,129 D324G probably damaging Het
Tcaf2 A T 6: 42,630,036 L328* probably null Het
Tmem253 T C 14: 52,017,961 L76P probably damaging Het
Tsc1 G A 2: 28,661,611 V46I probably damaging Het
Ttn A T 2: 76,949,081 F1152I probably benign Het
Txnrd2 T C 16: 18,438,351 V139A probably damaging Het
Ublcp1 T C 11: 44,460,770 D212G probably damaging Het
Utrn A T 10: 12,671,830 L1622Q probably damaging Het
Vmn2r103 A G 17: 19,793,102 T162A probably damaging Het
Other mutations in Ifitm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Ifitm1 APN 7 140968256 start codon destroyed probably damaging 1.00
IGL02048:Ifitm1 APN 7 140968292 missense probably benign
IGL02822:Ifitm1 APN 7 140968278 missense possibly damaging 0.80
R0332:Ifitm1 UTSW 7 140968453 splice site probably benign
R0445:Ifitm1 UTSW 7 140968441 splice site probably null
R0595:Ifitm1 UTSW 7 140968329 missense possibly damaging 0.88
R0655:Ifitm1 UTSW 7 140969536 missense probably benign 0.01
R1344:Ifitm1 UTSW 7 140968350 missense probably benign 0.02
R2092:Ifitm1 UTSW 7 140969514 missense probably damaging 1.00
R2411:Ifitm1 UTSW 7 140969798 utr 3 prime probably null
R6481:Ifitm1 UTSW 7 140969606 missense probably benign 0.00
Posted On2012-04-20