Incidental Mutation 'IGL02571:Irgc1'
ID299006
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Irgc1
Ensembl Gene ENSMUSG00000062028
Gene Nameimmunity-related GTPase family, cinema 1
SynonymsLOC381989, Iigp5, F630044M05Rik, LOC210145
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02571
Quality Score
Status
Chromosome7
Chromosomal Location24431922-24452297 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24432591 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 267 (K267R)
Ref Sequence ENSEMBL: ENSMUSP00000145975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080594] [ENSMUST00000205385] [ENSMUST00000205776]
Predicted Effect probably damaging
Transcript: ENSMUST00000080594
AA Change: K267R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104072
Gene: ENSMUSG00000062028
AA Change: K267R

DomainStartEndE-ValueType
Pfam:IIGP 18 400 3.7e-99 PFAM
Pfam:MMR_HSR1 54 167 2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205385
Predicted Effect probably damaging
Transcript: ENSMUST00000205776
AA Change: K267R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 T C 14: 60,012,458 probably benign Het
Cacna2d2 G A 9: 107,525,646 E885K possibly damaging Het
Cyp4f17 A G 17: 32,524,904 E352G probably benign Het
Dip2b T C 15: 100,157,885 W373R possibly damaging Het
Fam71b G T 11: 46,405,245 R148L probably damaging Het
Gem C A 4: 11,713,628 Q255K probably benign Het
Herc1 T C 9: 66,434,605 probably benign Het
Herc2 A T 7: 56,153,386 N2161I probably damaging Het
Ift172 A G 5: 31,257,891 F1325L probably damaging Het
Kif1a A G 1: 93,020,456 probably null Het
Lifr G T 15: 7,190,111 probably benign Het
Mrpl12 A G 11: 120,485,432 probably null Het
Mrps18c A G 5: 100,801,975 D74G probably damaging Het
Mtus1 C T 8: 41,083,482 G399D possibly damaging Het
Nf1 T C 11: 79,428,627 I536T probably damaging Het
Olfr1441 C A 19: 12,422,886 S192R possibly damaging Het
Pcdh9 A G 14: 93,560,587 probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rubcnl A T 14: 75,032,136 Q78L possibly damaging Het
Sis C A 3: 72,956,304 probably benign Het
Tbc1d2 T C 4: 46,628,370 M320V probably benign Het
Vmn1r178 C T 7: 23,894,235 T236I probably damaging Het
Xpc T C 6: 91,504,071 D273G probably benign Het
Zfhx4 A C 3: 5,329,523 N1033T probably damaging Het
Zfp646 A G 7: 127,879,412 T254A probably damaging Het
Other mutations in Irgc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02378:Irgc1 APN 7 24432075 missense probably benign 0.02
IGL03173:Irgc1 APN 7 24433302 missense probably damaging 1.00
R0200:Irgc1 UTSW 7 24432006 missense probably benign
R0234:Irgc1 UTSW 7 24433328 missense possibly damaging 0.71
R0234:Irgc1 UTSW 7 24433328 missense possibly damaging 0.71
R0318:Irgc1 UTSW 7 24432471 missense probably benign 0.27
R4651:Irgc1 UTSW 7 24432813 missense probably damaging 1.00
R4652:Irgc1 UTSW 7 24432813 missense probably damaging 1.00
R5072:Irgc1 UTSW 7 24432771 missense probably benign
R5366:Irgc1 UTSW 7 24433426 start gained probably benign
R7424:Irgc1 UTSW 7 24432228 missense probably damaging 0.98
R7801:Irgc1 UTSW 7 24432534 missense probably damaging 1.00
R8263:Irgc1 UTSW 7 24432682 missense probably damaging 1.00
Z1177:Irgc1 UTSW 7 24432955 missense probably benign 0.02
Posted On2015-04-16