Incidental Mutation 'R6909:Ifitm5'
ID 538924
Institutional Source Beutler Lab
Gene Symbol Ifitm5
Ensembl Gene ENSMUSG00000025489
Gene Name interferon induced transmembrane protein 5
Synonyms Hrmp1, 1110003J06Rik, Bril, fragilis4
MMRRC Submission 045001-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # R6909 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 140528871-140530156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140529172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 146 (F146L)
Ref Sequence ENSEMBL: ENSMUSP00000148225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026562] [ENSMUST00000079403] [ENSMUST00000163094] [ENSMUST00000164580] [ENSMUST00000211129]
AlphaFold O88728
Predicted Effect probably benign
Transcript: ENSMUST00000026562
AA Change: F128L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000026562
Gene: ENSMUSG00000025489
AA Change: F128L

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: ENSMUST00000163094
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 probably benign
Transcript: ENSMUST00000211129
AA Change: F146L

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G T 11: 110,006,323 (GRCm39) Q1261K probably benign Het
Acp3 T C 9: 104,178,164 (GRCm39) Y329C probably damaging Het
Agrn G T 4: 156,261,464 (GRCm39) H585N possibly damaging Het
Ano1 G A 7: 144,209,468 (GRCm39) T211M probably damaging Het
Atic T G 1: 71,616,005 (GRCm39) probably null Het
Catsperd T A 17: 56,957,781 (GRCm39) S229R probably damaging Het
Ccdc168 C T 1: 44,098,935 (GRCm39) R721Q possibly damaging Het
Cfap210 A T 2: 69,612,192 (GRCm39) probably null Het
Cfap251 A G 5: 123,425,815 (GRCm39) Y418C probably damaging Het
Cibar1 T C 4: 12,168,309 (GRCm39) T97A probably benign Het
Cmya5 T C 13: 93,227,760 (GRCm39) T2443A probably benign Het
Dysf A T 6: 84,169,920 (GRCm39) E1772V probably damaging Het
Eps8l1 T A 7: 4,472,899 (GRCm39) L107* probably null Het
Fpr3 T A 17: 18,191,429 (GRCm39) F233L probably benign Het
Gjc2 A T 11: 59,067,918 (GRCm39) V188E unknown Het
Gm45861 T A 8: 28,017,109 (GRCm39) Y690N unknown Het
Gsdma2 T A 11: 98,543,383 (GRCm39) C224* probably null Het
Gucy2d T A 7: 98,116,832 (GRCm39) Y881N probably damaging Het
Hcn3 A G 3: 89,059,936 (GRCm39) probably null Het
Hectd1 G T 12: 51,810,945 (GRCm39) probably null Het
Impg2 T C 16: 56,024,947 (GRCm39) F18S probably damaging Het
Ino80c T A 18: 24,241,812 (GRCm39) probably benign Het
Itga10 A G 3: 96,569,915 (GRCm39) H1109R probably benign Het
Kdm3b T A 18: 34,960,381 (GRCm39) probably null Het
Klra8 T G 6: 130,102,123 (GRCm39) N104T probably benign Het
Llgl2 G A 11: 115,741,625 (GRCm39) C585Y probably damaging Het
Lmod2 T A 6: 24,604,157 (GRCm39) D377E probably benign Het
Lrat G A 3: 82,810,961 (GRCm39) S20F probably damaging Het
Lrrc43 T A 5: 123,638,482 (GRCm39) H363Q probably benign Het
Lyst T G 13: 13,917,960 (GRCm39) I3340S probably damaging Het
Magi1 C A 6: 93,674,301 (GRCm39) G948W probably damaging Het
Map3k4 A C 17: 12,489,872 (GRCm39) F520V probably damaging Het
Mcm4 A T 16: 15,446,561 (GRCm39) N607K probably damaging Het
Mta3 T C 17: 84,073,980 (GRCm39) V216A possibly damaging Het
Ncor1 C A 11: 62,220,312 (GRCm39) G2131V probably damaging Het
Or10ag2 A G 2: 87,248,959 (GRCm39) H189R probably damaging Het
Or2z9 T A 8: 72,854,372 (GRCm39) V256E possibly damaging Het
Or5d16 A G 2: 87,773,034 (GRCm39) S313P probably benign Het
Or9k7 T A 10: 130,046,622 (GRCm39) I126L probably benign Het
Pramel12 T C 4: 143,144,479 (GRCm39) L275P probably damaging Het
Ptpn2 A T 18: 67,809,041 (GRCm39) probably null Het
Scn10a A G 9: 119,438,856 (GRCm39) I1671T probably damaging Het
Scyl2 A T 10: 89,481,604 (GRCm39) S622T probably benign Het
Sim1 C T 10: 50,785,506 (GRCm39) R192C possibly damaging Het
Skor2 A G 18: 76,948,252 (GRCm39) H658R possibly damaging Het
Slc10a5 A G 3: 10,400,655 (GRCm39) S2P possibly damaging Het
Slc37a4 A T 9: 44,311,331 (GRCm39) K207N possibly damaging Het
Syne2 G T 12: 76,110,969 (GRCm39) V5768L probably benign Het
Tdpoz3 T A 3: 93,733,772 (GRCm39) V149E probably damaging Het
Tekt5 T C 16: 10,176,165 (GRCm39) N460S probably damaging Het
Tk2 G T 8: 104,963,442 (GRCm39) Y142* probably null Het
Tkfc T A 19: 10,573,630 (GRCm39) Q236L probably benign Het
Tln2 G A 9: 67,299,814 (GRCm39) T148I probably damaging Het
Trim62 A G 4: 128,778,021 (GRCm39) D20G probably damaging Het
Tspan14 A C 14: 40,635,398 (GRCm39) V166G probably benign Het
Ttn A T 2: 76,712,065 (GRCm39) probably benign Het
Vmn1r217 T A 13: 23,298,108 (GRCm39) M265L probably benign Het
Vmn2r117 C G 17: 23,698,479 (GRCm39) Q31H possibly damaging Het
Zfp87 T C 13: 74,519,861 (GRCm39) T406A possibly damaging Het
Other mutations in Ifitm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Ifitm5 APN 7 140,530,076 (GRCm39) missense probably benign 0.43
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
Predicted Primers PCR Primer
(F):5'- GGCAGCATCAAATACACATCGTG -3'
(R):5'- AACATCTTGTTTCTGGTGCTGC -3'

Sequencing Primer
(F):5'- TCAAATACACATCGTGGACAAGAG -3'
(R):5'- CAGGCCCGAGACCAGAAG -3'
Posted On 2018-11-06