Incidental Mutation 'IGL01285:Ifitm5'
ID 72671
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifitm5
Ensembl Gene ENSMUSG00000025489
Gene Name interferon induced transmembrane protein 5
Synonyms Hrmp1, 1110003J06Rik, Bril, fragilis4
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # IGL01285
Quality Score
Status
Chromosome 7
Chromosomal Location 140528871-140530156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 140530076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 16 (R16L)
Ref Sequence ENSEMBL: ENSMUSP00000026562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026562] [ENSMUST00000079403] [ENSMUST00000081649] [ENSMUST00000163094] [ENSMUST00000164580] [ENSMUST00000211129]
AlphaFold O88728
Predicted Effect probably benign
Transcript: ENSMUST00000026562
AA Change: R16L

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026562
Gene: ENSMUSG00000025489
AA Change: R16L

DomainStartEndE-ValueType
Pfam:CD225 26 102 1.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079403
SMART Domains Protein: ENSMUSP00000078372
Gene: ENSMUSG00000062031

DomainStartEndE-ValueType
Pfam:Glyco_hydro_65m 279 496 3.5e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081649
SMART Domains Protein: ENSMUSP00000071470
Gene: ENSMUSG00000060591

DomainStartEndE-ValueType
Pfam:CD225 46 120 6.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164337
SMART Domains Protein: ENSMUSP00000127119
Gene: ENSMUSG00000062031

DomainStartEndE-ValueType
Pfam:Glyco_hydro_65m 219 464 3.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164580
SMART Domains Protein: ENSMUSP00000128214
Gene: ENSMUSG00000062031

DomainStartEndE-ValueType
Pfam:Glyco_hydro_65m 279 496 3.6e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169736
Predicted Effect probably benign
Transcript: ENSMUST00000211129
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null mice exhbit smaller skeletons, partial prenatal and postnatal lethality, and small litter sizes. Mice that survive to adulthood still exhibit shorter bones but other skeletal defects are no longer seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,271,610 (GRCm39) N599S probably benign Het
Adam6a A T 12: 113,509,893 (GRCm39) *755Y probably null Het
Adgrb3 G T 1: 25,132,868 (GRCm39) T1166K probably benign Het
Ano1 T C 7: 144,198,479 (GRCm39) Y345C probably benign Het
Ano1 A G 7: 144,149,275 (GRCm39) V862A probably damaging Het
Asap2 C T 12: 21,279,264 (GRCm39) A382V probably damaging Het
Asb18 A G 1: 89,923,963 (GRCm39) V100A probably benign Het
Bdnf G A 2: 109,553,931 (GRCm39) A102T probably benign Het
Ccser2 G A 14: 36,660,626 (GRCm39) T509M probably damaging Het
Cfap47 A G X: 78,532,764 (GRCm39) I767T possibly damaging Het
Des G A 1: 75,339,227 (GRCm39) A251T probably benign Het
Dmd C T X: 84,153,590 (GRCm39) Q3224* probably null Het
Endog G T 2: 30,061,975 (GRCm39) probably null Het
Ggt7 A G 2: 155,342,691 (GRCm39) V269A probably damaging Het
Gucy2c A G 6: 136,686,739 (GRCm39) F808S probably damaging Het
Hira A G 16: 18,730,930 (GRCm39) T210A probably benign Het
Igdcc4 T C 9: 65,031,273 (GRCm39) C404R probably damaging Het
Ints7 G A 1: 191,347,890 (GRCm39) R754H probably benign Het
Irf9 A G 14: 55,845,058 (GRCm39) E258G probably damaging Het
Megf11 T C 9: 64,567,728 (GRCm39) C406R probably damaging Het
Olfml1 A G 7: 107,189,364 (GRCm39) N143S possibly damaging Het
Or4m1 A G 14: 50,557,713 (GRCm39) F193S possibly damaging Het
Or6c66b T A 10: 129,376,711 (GRCm39) F102I probably benign Het
Or7g30 A G 9: 19,352,266 (GRCm39) D19G probably benign Het
Otof G T 5: 30,562,527 (GRCm39) Q254K probably damaging Het
Pate7 A T 9: 35,688,044 (GRCm39) N65K possibly damaging Het
Plcd3 A G 11: 102,968,696 (GRCm39) F332L probably benign Het
Plxnc1 T C 10: 94,635,230 (GRCm39) D1332G probably damaging Het
Rnasel A T 1: 153,634,130 (GRCm39) D521V probably benign Het
Sema5a T A 15: 32,575,143 (GRCm39) V417D possibly damaging Het
Senp6 G A 9: 80,044,000 (GRCm39) R877Q probably benign Het
Shroom2 A T X: 151,442,353 (GRCm39) D937E probably damaging Het
Slc35a3 A G 3: 116,488,262 (GRCm39) S142P probably damaging Het
Srpx A T X: 9,905,298 (GRCm39) V398E probably damaging Het
Stk10 A T 11: 32,560,653 (GRCm39) K669N possibly damaging Het
Sumf2 A G 5: 129,878,811 (GRCm39) D49G probably damaging Het
Syde1 T A 10: 78,424,721 (GRCm39) E370D probably damaging Het
Tas2r115 G T 6: 132,714,641 (GRCm39) S103R probably damaging Het
Top2a G A 11: 98,896,985 (GRCm39) probably benign Het
Ttn T A 2: 76,550,842 (GRCm39) T23190S probably damaging Het
Ttyh3 C A 5: 140,615,167 (GRCm39) C407F probably damaging Het
Vmn2r27 G T 6: 124,169,370 (GRCm39) H587N possibly damaging Het
Vmn2r74 A G 7: 85,606,692 (GRCm39) I218T possibly damaging Het
Vsig10 A G 5: 117,462,954 (GRCm39) N60S probably benign Het
Zc3h7a A G 16: 10,956,979 (GRCm39) S877P probably damaging Het
Zfp979 G T 4: 147,699,853 (GRCm39) T29N probably damaging Het
Znfx1 G A 2: 166,880,615 (GRCm39) R390C possibly damaging Het
Other mutations in Ifitm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0265:Ifitm5 UTSW 7 140,529,921 (GRCm39) intron probably benign
R4199:Ifitm5 UTSW 7 140,529,149 (GRCm39) makesense probably null
R4793:Ifitm5 UTSW 7 140,530,077 (GRCm39) missense probably benign 0.01
R5031:Ifitm5 UTSW 7 140,530,017 (GRCm39) nonsense probably null
R6909:Ifitm5 UTSW 7 140,529,172 (GRCm39) missense probably benign 0.16
Posted On 2013-10-07