Incidental Mutation 'IGL02185:C9orf72'
ID 283585
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C9orf72
Ensembl Gene ENSMUSG00000028300
Gene Name C9orf72, member of C9orf72-SMCR8 complex
Synonyms Dennd9, 3110043O21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02185
Quality Score
Status
Chromosome 4
Chromosomal Location 35191285-35226153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35197046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 340 (W340R)
Ref Sequence ENSEMBL: ENSMUSP00000103762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084724] [ENSMUST00000108126] [ENSMUST00000108127]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000084724
AA Change: W340R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081775
Gene: ENSMUSG00000028300
AA Change: W340R

DomainStartEndE-ValueType
Pfam:C9orf72-like 60 325 6.8e-90 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108126
AA Change: W176R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103761
Gene: ENSMUSG00000028300
AA Change: W176R

DomainStartEndE-ValueType
Pfam:C9orf72-like 1 161 2e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108127
AA Change: W340R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103762
Gene: ENSMUSG00000028300
AA Change: W340R

DomainStartEndE-ValueType
Pfam:C9orf72-like 61 324 1.9e-99 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142628
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]
PHENOTYPE: Nullizygous mice show splenomegaly and lymphadenopathy. Homozygotes for one allele show reduced body weight, hematocrit and hemoglobin content, lymphopenia, neutrophilia, social interaction deficits and premature death. Homozygotes for another allele show altered macrophage and microglia physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh5 A G 3: 138,156,815 (GRCm39) D167G probably benign Het
Cand2 G A 6: 115,766,471 (GRCm39) A359T probably benign Het
Cnnm2 T C 19: 46,751,434 (GRCm39) V408A probably benign Het
Eloa A G 4: 135,740,290 (GRCm39) probably benign Het
Ern2 T C 7: 121,772,598 (GRCm39) probably benign Het
Hs6st3 A G 14: 120,106,296 (GRCm39) probably null Het
Hydin A T 8: 111,233,108 (GRCm39) I1736F possibly damaging Het
Ifrd2 A T 9: 107,468,290 (GRCm39) I253F probably benign Het
Kctd7 G A 5: 130,181,299 (GRCm39) V241I possibly damaging Het
Lcp1 T C 14: 75,466,740 (GRCm39) F616L possibly damaging Het
Lyst C T 13: 13,835,678 (GRCm39) Q1787* probably null Het
Mapkbp1 A T 2: 119,845,144 (GRCm39) T342S possibly damaging Het
Mcph1 A G 8: 18,719,006 (GRCm39) probably benign Het
Mctp2 T C 7: 71,730,571 (GRCm39) H868R probably benign Het
Mefv T C 16: 3,533,714 (GRCm39) T186A probably benign Het
Nol9 T A 4: 152,142,368 (GRCm39) I666N probably damaging Het
Or51t4 T A 7: 102,597,721 (GRCm39) N16K probably damaging Het
Or6c205 G T 10: 129,086,904 (GRCm39) C167F possibly damaging Het
Or8b8 A C 9: 37,809,531 (GRCm39) Y277S probably damaging Het
Pum2 T C 12: 8,798,955 (GRCm39) probably null Het
Rpgrip1 A C 14: 52,349,685 (GRCm39) K24N possibly damaging Het
Ryr3 T A 2: 112,797,548 (GRCm39) T122S probably damaging Het
Sfn A G 4: 133,328,636 (GRCm39) S149P probably benign Het
Slc27a2 T A 2: 126,409,736 (GRCm39) V306D probably damaging Het
Slc35a1 A G 4: 34,675,584 (GRCm39) V81A probably benign Het
Trav21-dv12 A T 14: 54,113,955 (GRCm39) D25V probably benign Het
Ttn T C 2: 76,598,878 (GRCm39) H11018R possibly damaging Het
Txn1 A T 4: 57,950,883 (GRCm39) Y49N probably benign Het
Ulk2 C T 11: 61,672,886 (GRCm39) A903T probably damaging Het
Vmn2r77 G A 7: 86,444,360 (GRCm39) M4I unknown Het
Vmn2r85 G T 10: 130,254,561 (GRCm39) L708I probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vrk2 T A 11: 26,485,638 (GRCm39) R117* probably null Het
Xpo6 A T 7: 125,712,980 (GRCm39) probably benign Het
Zdhhc14 C A 17: 5,803,157 (GRCm39) T420K probably benign Het
Zfp334 G T 2: 165,228,869 (GRCm39) probably benign Het
Zfp958 T A 8: 4,678,990 (GRCm39) C338* probably null Het
Other mutations in C9orf72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:C9orf72 APN 4 35,213,616 (GRCm39) missense possibly damaging 0.57
IGL00718:C9orf72 APN 4 35,213,015 (GRCm39) missense probably damaging 1.00
IGL01284:C9orf72 APN 4 35,218,808 (GRCm39) missense probably damaging 0.96
IGL01998:C9orf72 APN 4 35,194,179 (GRCm39) missense probably benign 0.30
IGL02403:C9orf72 APN 4 35,205,887 (GRCm39) splice site probably benign
IGL02823:C9orf72 APN 4 35,213,031 (GRCm39) missense probably damaging 0.98
R0194:C9orf72 UTSW 4 35,197,207 (GRCm39) missense probably damaging 1.00
R0471:C9orf72 UTSW 4 35,193,257 (GRCm39) missense probably benign 0.01
R1172:C9orf72 UTSW 4 35,218,630 (GRCm39) missense probably damaging 0.99
R1175:C9orf72 UTSW 4 35,218,630 (GRCm39) missense probably damaging 0.99
R1765:C9orf72 UTSW 4 35,197,098 (GRCm39) missense probably damaging 1.00
R4326:C9orf72 UTSW 4 35,225,985 (GRCm39) unclassified probably benign
R4327:C9orf72 UTSW 4 35,225,985 (GRCm39) unclassified probably benign
R4328:C9orf72 UTSW 4 35,225,985 (GRCm39) unclassified probably benign
R4679:C9orf72 UTSW 4 35,226,033 (GRCm39) unclassified probably benign
R4844:C9orf72 UTSW 4 35,213,565 (GRCm39) missense possibly damaging 0.47
R5150:C9orf72 UTSW 4 35,193,270 (GRCm39) missense possibly damaging 0.92
R5528:C9orf72 UTSW 4 35,213,556 (GRCm39) missense probably benign 0.18
R5789:C9orf72 UTSW 4 35,226,112 (GRCm39) unclassified probably benign
R7790:C9orf72 UTSW 4 35,192,997 (GRCm39) missense unknown
R7805:C9orf72 UTSW 4 35,194,170 (GRCm39) missense
R8115:C9orf72 UTSW 4 35,218,763 (GRCm39) missense
R9049:C9orf72 UTSW 4 35,192,964 (GRCm39) missense unknown
R9327:C9orf72 UTSW 4 35,205,883 (GRCm39) missense
R9373:C9orf72 UTSW 4 35,196,985 (GRCm39) missense
R9590:C9orf72 UTSW 4 35,218,557 (GRCm39) missense
R9591:C9orf72 UTSW 4 35,218,557 (GRCm39) missense
Posted On 2015-04-16