Incidental Mutation 'IGL02403:C9orf72'
ID 291985
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 # IGL02403
Quality Score
Status
Chromosome 4
Chromosomal Location 35191285-35226153 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 35205887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000084724
SMART Domains Protein: ENSMUSP00000081775
Gene: ENSMUSG00000028300

DomainStartEndE-ValueType
Pfam:C9orf72-like 60 325 6.8e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108126
SMART Domains Protein: ENSMUSP00000103761
Gene: ENSMUSG00000028300

DomainStartEndE-ValueType
Pfam:C9orf72-like 1 161 2e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108127
SMART Domains Protein: ENSMUSP00000103762
Gene: ENSMUSG00000028300

DomainStartEndE-ValueType
Pfam:C9orf72-like 61 324 1.9e-99 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121722
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,755,227 (GRCm39) probably null Het
Alk C A 17: 72,208,388 (GRCm39) G944V probably damaging Het
Alox15 T C 11: 70,236,727 (GRCm39) D446G probably damaging Het
Apof A G 10: 128,105,353 (GRCm39) probably null Het
Arhgap28 T G 17: 68,180,154 (GRCm39) D81A possibly damaging Het
Bltp1 T C 3: 37,084,813 (GRCm39) S3922P probably benign Het
Bms1 T C 6: 118,382,185 (GRCm39) E451G possibly damaging Het
Capn13 T A 17: 73,658,421 (GRCm39) T216S possibly damaging Het
Ccdc28a A T 10: 18,089,931 (GRCm39) probably benign Het
Cdip1 T C 16: 4,586,676 (GRCm39) T150A probably damaging Het
Chrnb3 T A 8: 27,883,836 (GRCm39) L191Q probably damaging Het
Chst2 G A 9: 95,287,285 (GRCm39) Q354* probably null Het
Cldn11 T C 3: 31,204,345 (GRCm39) V16A probably benign Het
Cyp4f18 A G 8: 72,752,072 (GRCm39) M198T probably damaging Het
Dhx30 A G 9: 109,920,587 (GRCm39) L280P probably damaging Het
Disc1 A G 8: 125,862,258 (GRCm39) probably benign Het
Dnm1l T C 16: 16,154,840 (GRCm39) I172V possibly damaging Het
Edem2 T C 2: 155,550,983 (GRCm39) D328G possibly damaging Het
Fbxo10 G A 4: 45,062,517 (GRCm39) T3M probably benign Het
Fdxacb1 T A 9: 50,682,863 (GRCm39) S275R possibly damaging Het
Gm7275 C A 16: 47,893,991 (GRCm39) noncoding transcript Het
Helz2 A T 2: 180,872,815 (GRCm39) I2468N probably damaging Het
Ift46 C A 9: 44,698,176 (GRCm39) P213Q probably damaging Het
Ift56 A G 6: 38,386,373 (GRCm39) M365V possibly damaging Het
Irf2 G T 8: 47,299,207 (GRCm39) V334F probably damaging Het
Lrp4 T A 2: 91,338,927 (GRCm39) V1786E probably benign Het
Mfsd5 A G 15: 102,188,973 (GRCm39) Y115C probably benign Het
Muc5ac A G 7: 141,357,187 (GRCm39) R1154G possibly damaging Het
Nek4 G T 14: 30,686,008 (GRCm39) E314* probably null Het
Oas2 C T 5: 120,886,815 (GRCm39) G117D possibly damaging Het
Or8j3b A T 2: 86,204,867 (GRCm39) D296E probably benign Het
Pikfyve C T 1: 65,283,663 (GRCm39) H767Y probably damaging Het
Pkhd1 T C 1: 20,632,642 (GRCm39) H591R probably benign Het
Pygl T A 12: 70,241,032 (GRCm39) I672F probably benign Het
Rft1 G T 14: 30,382,278 (GRCm39) probably benign Het
Ripor3 A C 2: 167,831,250 (GRCm39) L517R probably damaging Het
Serpina3b A G 12: 104,096,721 (GRCm39) M1V probably null Het
Sgce C T 6: 4,694,059 (GRCm39) R263Q probably damaging Het
Stard6 A T 18: 70,629,183 (GRCm39) probably null Het
Them4 T C 3: 94,230,978 (GRCm39) F117L probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Vmn2r116 G T 17: 23,606,338 (GRCm39) D417Y probably damaging 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
IGL02185:C9orf72 APN 4 35,197,046 (GRCm39) missense probably damaging 1.00
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