Incidental Mutation 'IGL02398:Irgm2'
ID291744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irgm2
Ensembl Gene ENSMUSG00000069874
Gene Nameimmunity-related GTPase family M member 2
SynonymsGtpi, Iigp2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02398
Quality Score
Status
Chromosome11
Chromosomal Location58199618-58222782 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 58219929 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 161 (I161F)
Ref Sequence ENSEMBL: ENSMUSP00000146805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058704] [ENSMUST00000108836] [ENSMUST00000209079]
Predicted Effect probably damaging
Transcript: ENSMUST00000058704
AA Change: I149F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874
AA Change: I149F

DomainStartEndE-ValueType
Pfam:IIGP 30 387 8.1e-165 PFAM
Pfam:MMR_HSR1 66 179 9.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108836
AA Change: I149F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104464
Gene: ENSMUSG00000069874
AA Change: I149F

DomainStartEndE-ValueType
Pfam:IIGP 30 387 4.9e-164 PFAM
Pfam:MMR_HSR1 66 179 2.2e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209079
AA Change: I161F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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 member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohn's disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,402,824 C160* probably null Het
Alkbh8 C T 9: 3,345,870 P197S possibly damaging Het
Ankef1 A C 2: 136,555,782 N761T probably damaging Het
Ankrd7 A G 6: 18,866,697 Y72C probably damaging Het
Cfap36 T G 11: 29,222,833 M231L probably benign Het
Cog7 A G 7: 121,964,209 C227R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspg4 A T 9: 56,886,686 E568D probably benign Het
Cwc27 G A 13: 104,804,254 T199I possibly damaging Het
Cyp26a1 A G 19: 37,700,019 I330V probably benign Het
Dcaf7 T C 11: 106,053,753 V254A probably benign Het
Dhrs7 G A 12: 72,664,692 R24C probably damaging Het
Ehmt2 T A 17: 34,908,479 C838S probably damaging Het
Fn1 A T 1: 71,618,670 probably null Het
Gjb3 T A 4: 127,326,062 S226C probably benign Het
Gm14496 A G 2: 181,996,170 I346V probably benign Het
Gm5926 A G X: 32,651,386 D224G probably damaging Het
Gm8050 T C 14: 6,717,330 E172G probably damaging Het
Higd1a G A 9: 121,852,524 R22W probably damaging Het
Hmcn1 A G 1: 150,802,897 L491S possibly damaging Het
Igsf9b T C 9: 27,333,130 S794P possibly damaging Het
Lrp8 C A 4: 107,869,048 S850R probably damaging Het
Lrp8 G T 4: 107,847,494 V304F probably damaging Het
Lrrc9 A T 12: 72,466,903 M513L probably benign Het
Myo18b A T 5: 112,830,312 V1248E possibly damaging Het
Myo1b A T 1: 51,757,891 N945K probably damaging Het
Nipbl A G 15: 8,327,090 L1604P probably damaging Het
Oas1f A T 5: 120,851,505 Y169F probably benign Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr1054 A T 2: 86,332,524 Y277* probably null Het
Olfr444 A T 6: 42,956,112 I205F probably benign Het
Olfr584 G A 7: 103,086,106 C191Y probably damaging Het
Parp8 A G 13: 116,910,863 probably null Het
Pde4dip T C 3: 97,766,781 Y273C probably benign Het
Pgbd5 C T 8: 124,384,518 A54T probably damaging Het
Pglyrp4 G A 3: 90,739,117 probably benign Het
Piezo1 A T 8: 122,486,563 S1819R probably benign Het
Polr1a T C 6: 71,936,556 probably benign Het
Polr1b A G 2: 129,102,966 I61V probably benign Het
Prlhr G T 19: 60,467,315 A271E probably damaging Het
Rad23b C T 4: 55,350,360 probably benign Het
Rad51ap1 A T 6: 126,928,151 S132R probably damaging Het
Ros1 T A 10: 52,144,884 probably benign Het
Ryr3 T C 2: 112,847,422 D1327G probably benign Het
Slit1 A C 19: 41,602,237 V1332G probably damaging Het
Tmem178b A G 6: 40,207,527 M120V probably damaging Het
Trim25 T C 11: 88,999,804 C106R probably damaging Het
Trim35 A G 14: 66,309,248 Y488C probably damaging Het
Tsc2 A T 17: 24,621,729 H326Q probably damaging Het
Yap1 A T 9: 7,950,535 I315K probably benign Het
Zfp654 A G 16: 64,786,018 V607A probably benign Het
Other mutations in Irgm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01843:Irgm2 APN 11 58220341 missense probably benign 0.00
IGL01933:Irgm2 APN 11 58219957 missense possibly damaging 0.95
IGL02115:Irgm2 APN 11 58220122 missense probably benign 0.21
IGL02708:Irgm2 APN 11 58220524 missense probably benign 0.00
IGL02730:Irgm2 APN 11 58219990 missense probably benign 0.26
R0282:Irgm2 UTSW 11 58219519 missense probably benign 0.00
R1621:Irgm2 UTSW 11 58220538 missense probably benign
R1717:Irgm2 UTSW 11 58220635 missense probably damaging 1.00
R1980:Irgm2 UTSW 11 58220076 missense probably damaging 0.99
R1986:Irgm2 UTSW 11 58219558 missense probably benign 0.00
R2145:Irgm2 UTSW 11 58220529 missense possibly damaging 0.90
R2184:Irgm2 UTSW 11 58220428 missense probably benign 0.01
R2327:Irgm2 UTSW 11 58220392 missense probably damaging 1.00
R4041:Irgm2 UTSW 11 58220130 missense probably benign 0.00
R4231:Irgm2 UTSW 11 58219478 start gained probably benign
R5988:Irgm2 UTSW 11 58220187 missense probably benign 0.39
R6143:Irgm2 UTSW 11 58220609 missense possibly damaging 0.55
R6508:Irgm2 UTSW 11 58219501 missense probably benign
R6528:Irgm2 UTSW 11 58220052 missense probably benign 0.10
R6851:Irgm2 UTSW 11 58219815 missense possibly damaging 0.95
R7351:Irgm2 UTSW 11 58219605 missense possibly damaging 0.93
R7434:Irgm2 UTSW 11 58219465 missense probably benign 0.01
Posted On2015-04-16