Incidental Mutation 'IGL01821:Irgm1'
ID 154551
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irgm1
Ensembl Gene ENSMUSG00000046879
Gene Name immunity-related GTPase family M member 1
Synonyms Iigp3, Irgm, Ifi1, LRG-47
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01821
Quality Score
Status
Chromosome 11
Chromosomal Location 48756072-48762247 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48757353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 153 (S153P)
Ref Sequence ENSEMBL: ENSMUSP00000094870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049519] [ENSMUST00000097271]
AlphaFold Q60766
Predicted Effect probably damaging
Transcript: ENSMUST00000049519
AA Change: S169P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050446
Gene: ENSMUSG00000046879
AA Change: S169P

DomainStartEndE-ValueType
Pfam:IIGP 42 399 5.5e-169 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097271
AA Change: S153P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094870
Gene: ENSMUSG00000046879
AA Change: S153P

DomainStartEndE-ValueType
Pfam:IIGP 26 288 2.5e-131 PFAM
Pfam:MMR_HSR1 62 175 2.8e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147151
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: In the absence of infection, mice show no overt phenotype. Resistance to protozoan parasitic infection and bacterial infection is impaired in homozygous mutant mice, whereas resistance to viral infection is normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 T C 10: 20,917,142 (GRCm39) probably null Het
Ahnak A G 19: 8,989,482 (GRCm39) I3589V probably benign Het
Arhgdia A T 11: 120,471,031 (GRCm39) L56Q probably damaging Het
Camk2b C T 11: 5,947,890 (GRCm39) D112N possibly damaging Het
Eml6 A G 11: 29,771,699 (GRCm39) V664A probably benign Het
Gstm2 T C 3: 107,892,369 (GRCm39) D119G possibly damaging Het
Hic2 T C 16: 17,075,695 (GRCm39) F175L probably benign Het
Ifi214 T C 1: 173,356,891 (GRCm39) I71V probably damaging Het
Igkv17-121 G A 6: 68,013,848 (GRCm39) C16Y unknown Het
Inpp4a T C 1: 37,416,798 (GRCm39) S435P probably damaging Het
Lactb A T 9: 66,878,180 (GRCm39) S216R probably damaging Het
Nol7 A G 13: 43,552,216 (GRCm39) K87R probably benign Het
Or9m2 T A 2: 87,820,933 (GRCm39) H159Q probably benign Het
Patj G T 4: 98,344,448 (GRCm39) G18W probably damaging Het
Pjvk G T 2: 76,486,259 (GRCm39) G220C probably damaging Het
Prtg T C 9: 72,819,219 (GRCm39) Y1071H probably damaging Het
Psmb8 C A 17: 34,417,517 (GRCm39) Q49K probably benign Het
Rhcg C A 7: 79,248,346 (GRCm39) L419F probably benign Het
Slc6a5 A G 7: 49,564,601 (GRCm39) probably benign Het
Slc9a9 A G 9: 95,111,003 (GRCm39) D607G probably benign Het
Tenm2 G A 11: 35,914,710 (GRCm39) L2275F probably damaging Het
Thoc1 A G 18: 9,993,429 (GRCm39) D596G probably benign Het
Tie1 A G 4: 118,341,835 (GRCm39) F205L probably damaging Het
Traf7 G A 17: 24,729,473 (GRCm39) S446F probably damaging Het
Trnt1 G A 6: 106,751,436 (GRCm39) V138I probably damaging Het
Tsnaxip1 A T 8: 106,564,148 (GRCm39) Q116L probably damaging Het
Wdr47 T C 3: 108,534,520 (GRCm39) S480P probably damaging Het
Other mutations in Irgm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Irgm1 APN 11 48,756,832 (GRCm39) nonsense probably null
IGL02043:Irgm1 APN 11 48,757,642 (GRCm39) missense probably damaging 0.98
IGL02252:Irgm1 APN 11 48,756,981 (GRCm39) missense possibly damaging 0.92
IGL03153:Irgm1 APN 11 48,757,094 (GRCm39) missense probably damaging 1.00
igraine UTSW 11 48,757,440 (GRCm39) missense probably benign 0.33
R0487:Irgm1 UTSW 11 48,757,154 (GRCm39) missense probably damaging 0.98
R1808:Irgm1 UTSW 11 48,757,259 (GRCm39) missense probably damaging 0.99
R1809:Irgm1 UTSW 11 48,757,440 (GRCm39) missense probably benign 0.33
R1878:Irgm1 UTSW 11 48,756,897 (GRCm39) missense probably benign 0.07
R2971:Irgm1 UTSW 11 48,757,417 (GRCm39) nonsense probably null
R4492:Irgm1 UTSW 11 48,756,955 (GRCm39) synonymous silent
R4962:Irgm1 UTSW 11 48,757,159 (GRCm39) missense possibly damaging 0.93
R5186:Irgm1 UTSW 11 48,757,044 (GRCm39) missense probably benign 0.00
R5794:Irgm1 UTSW 11 48,757,064 (GRCm39) missense probably damaging 0.99
R6224:Irgm1 UTSW 11 48,757,713 (GRCm39) missense probably benign 0.02
R6487:Irgm1 UTSW 11 48,756,777 (GRCm39) missense probably benign 0.21
R6752:Irgm1 UTSW 11 48,757,290 (GRCm39) missense probably damaging 1.00
R6766:Irgm1 UTSW 11 48,756,928 (GRCm39) missense possibly damaging 0.80
R8005:Irgm1 UTSW 11 48,757,217 (GRCm39) missense probably damaging 1.00
R8418:Irgm1 UTSW 11 48,757,166 (GRCm39) missense probably damaging 0.97
R8924:Irgm1 UTSW 11 48,756,698 (GRCm39) missense probably benign 0.35
R8947:Irgm1 UTSW 11 48,759,575 (GRCm39) intron probably benign
Posted On 2014-02-04