Incidental Mutation 'IGL02398:Irgm2'
ID 291744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irgm2
Ensembl Gene ENSMUSG00000069874
Gene Name immunity-related GTPase family M member 2
Synonyms Iigp2, Gtpi
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02398
Quality Score
Status
Chromosome 11
Chromosomal Location 58105803-58113609 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58110755 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold A0A140LIF8
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: 57,709,824 (GRCm39) C160* probably null Het
Alkbh8 C T 9: 3,345,870 (GRCm39) P197S possibly damaging Het
Ankef1 A C 2: 136,397,702 (GRCm39) N761T probably damaging Het
Ankrd7 A G 6: 18,866,696 (GRCm39) Y72C probably damaging Het
Cfap36 T G 11: 29,172,833 (GRCm39) M231L probably benign Het
Cog7 A G 7: 121,563,432 (GRCm39) C227R probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspg4 A T 9: 56,793,970 (GRCm39) E568D probably benign Het
Cwc27 G A 13: 104,940,762 (GRCm39) T199I possibly damaging Het
Cyp26a1 A G 19: 37,688,467 (GRCm39) I330V probably benign Het
Dcaf7 T C 11: 105,944,579 (GRCm39) V254A probably benign Het
Dhrs7 G A 12: 72,711,466 (GRCm39) R24C probably damaging Het
Ehmt2 T A 17: 35,127,455 (GRCm39) C838S probably damaging Het
Fn1 A T 1: 71,657,829 (GRCm39) probably null Het
Gjb3 T A 4: 127,219,855 (GRCm39) S226C probably benign Het
Gm14496 A G 2: 181,637,963 (GRCm39) I346V probably benign Het
Gm8050 T C 14: 17,930,894 (GRCm39) E172G probably damaging Het
Higd1a G A 9: 121,681,590 (GRCm39) R22W probably damaging Het
Hmcn1 A G 1: 150,678,648 (GRCm39) L491S possibly damaging Het
Igsf9b T C 9: 27,244,426 (GRCm39) S794P possibly damaging Het
Lrp8 G T 4: 107,704,691 (GRCm39) V304F probably damaging Het
Lrp8 C A 4: 107,726,245 (GRCm39) S850R probably damaging Het
Lrrc9 A T 12: 72,513,677 (GRCm39) M513L probably benign Het
Myo18b A T 5: 112,978,178 (GRCm39) V1248E possibly damaging Het
Myo1b A T 1: 51,797,050 (GRCm39) N945K probably damaging Het
Nipbl A G 15: 8,356,574 (GRCm39) L1604P probably damaging Het
Oas1f A T 5: 120,989,568 (GRCm39) Y169F probably benign Het
Ogfod3 G A 11: 121,093,851 (GRCm39) T53I probably benign Het
Or2a56 A T 6: 42,933,046 (GRCm39) I205F probably benign Het
Or52r1c G A 7: 102,735,313 (GRCm39) C191Y probably damaging Het
Or8k22 A T 2: 86,162,868 (GRCm39) Y277* probably null Het
Parp8 A G 13: 117,047,399 (GRCm39) probably null Het
Pde4dip T C 3: 97,674,097 (GRCm39) Y273C probably benign Het
Pgbd5 C T 8: 125,111,257 (GRCm39) A54T probably damaging Het
Pglyrp4 G A 3: 90,646,424 (GRCm39) probably benign Het
Piezo1 A T 8: 123,213,302 (GRCm39) S1819R probably benign Het
Polr1a T C 6: 71,913,540 (GRCm39) probably benign Het
Polr1b A G 2: 128,944,886 (GRCm39) I61V probably benign Het
Prlhr G T 19: 60,455,753 (GRCm39) A271E probably damaging Het
Rad23b C T 4: 55,350,360 (GRCm39) probably benign Het
Rad51ap1 A T 6: 126,905,114 (GRCm39) S132R probably damaging Het
Ros1 T A 10: 52,020,980 (GRCm39) probably benign Het
Ryr3 T C 2: 112,677,767 (GRCm39) D1327G probably benign Het
Slit1 A C 19: 41,590,676 (GRCm39) V1332G probably damaging Het
Spin2h A G X: 32,162,153 (GRCm39) D224G probably damaging Het
Tmem178b A G 6: 40,184,461 (GRCm39) M120V probably damaging Het
Trim25 T C 11: 88,890,630 (GRCm39) C106R probably damaging Het
Trim35 A G 14: 66,546,697 (GRCm39) Y488C probably damaging Het
Tsc2 A T 17: 24,840,703 (GRCm39) H326Q probably damaging Het
Yap1 A T 9: 7,950,536 (GRCm39) I315K probably benign Het
Zfp654 A G 16: 64,606,381 (GRCm39) V607A probably benign Het
Other mutations in Irgm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01843:Irgm2 APN 11 58,111,167 (GRCm39) missense probably benign 0.00
IGL01933:Irgm2 APN 11 58,110,783 (GRCm39) missense possibly damaging 0.95
IGL02115:Irgm2 APN 11 58,110,948 (GRCm39) missense probably benign 0.21
IGL02708:Irgm2 APN 11 58,111,350 (GRCm39) missense probably benign 0.00
IGL02730:Irgm2 APN 11 58,110,816 (GRCm39) missense probably benign 0.26
R0282:Irgm2 UTSW 11 58,110,345 (GRCm39) missense probably benign 0.00
R1621:Irgm2 UTSW 11 58,111,364 (GRCm39) missense probably benign
R1717:Irgm2 UTSW 11 58,111,461 (GRCm39) missense probably damaging 1.00
R1980:Irgm2 UTSW 11 58,110,902 (GRCm39) missense probably damaging 0.99
R1986:Irgm2 UTSW 11 58,110,384 (GRCm39) missense probably benign 0.00
R2145:Irgm2 UTSW 11 58,111,355 (GRCm39) missense possibly damaging 0.90
R2184:Irgm2 UTSW 11 58,111,254 (GRCm39) missense probably benign 0.01
R2327:Irgm2 UTSW 11 58,111,218 (GRCm39) missense probably damaging 1.00
R4041:Irgm2 UTSW 11 58,110,956 (GRCm39) missense probably benign 0.00
R4231:Irgm2 UTSW 11 58,110,304 (GRCm39) start gained probably benign
R5988:Irgm2 UTSW 11 58,111,013 (GRCm39) missense probably benign 0.39
R6143:Irgm2 UTSW 11 58,111,435 (GRCm39) missense possibly damaging 0.55
R6508:Irgm2 UTSW 11 58,110,327 (GRCm39) missense probably benign
R6528:Irgm2 UTSW 11 58,110,878 (GRCm39) missense probably benign 0.10
R6851:Irgm2 UTSW 11 58,110,641 (GRCm39) missense possibly damaging 0.95
R7351:Irgm2 UTSW 11 58,110,431 (GRCm39) missense possibly damaging 0.93
R7434:Irgm2 UTSW 11 58,110,291 (GRCm39) missense probably benign 0.01
R8951:Irgm2 UTSW 11 58,110,408 (GRCm39) missense possibly damaging 0.83
R9163:Irgm2 UTSW 11 58,111,280 (GRCm39) missense probably damaging 1.00
R9664:Irgm2 UTSW 11 58,110,872 (GRCm39) missense possibly damaging 0.63
Z1186:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1186:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1186:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1186:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1186:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1186:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1186:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1186:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1186:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Z1187:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Z1187:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1187:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1187:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1187:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1187:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1187:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1187:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1187:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1188:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1188:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1188:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1188:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1188:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1188:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1188:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1188:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1188:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Z1189:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1189:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1189:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1189:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1189:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1189:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1189:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1189:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1189:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Z1190:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Z1190:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1190:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1190:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1190:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1190:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1190:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1190:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1190:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1191:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1191:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1191:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1191:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1191:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1191:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1191:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1191:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1191:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Z1192:Irgm2 UTSW 11 58,111,238 (GRCm39) missense possibly damaging 0.80
Z1192:Irgm2 UTSW 11 58,110,951 (GRCm39) missense probably benign 0.00
Z1192:Irgm2 UTSW 11 58,110,924 (GRCm39) missense probably benign 0.00
Z1192:Irgm2 UTSW 11 58,110,833 (GRCm39) missense probably benign 0.44
Z1192:Irgm2 UTSW 11 58,110,780 (GRCm39) missense probably benign 0.01
Z1192:Irgm2 UTSW 11 58,110,738 (GRCm39) missense probably benign 0.01
Z1192:Irgm2 UTSW 11 58,110,389 (GRCm39) missense probably benign 0.03
Z1192:Irgm2 UTSW 11 58,110,339 (GRCm39) missense probably benign
Z1192:Irgm2 UTSW 11 58,111,389 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16