Incidental Mutation 'R8115:C9orf72'
ID 631123
Institutional Source Beutler Lab
Gene Symbol C9orf72
Ensembl Gene ENSMUSG00000028300
Gene Name C9orf72, member of C9orf72-SMCR8 complex
Synonyms Dennd9, 3110043O21Rik
MMRRC Submission 067544-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8115 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 35191285-35226153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35218763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 32 (Y32C)
Ref Sequence ENSEMBL: ENSMUSP00000103762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084724] [ENSMUST00000108126] [ENSMUST00000108127]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000081775
Gene: ENSMUSG00000028300
AA Change: Y32C

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
SMART Domains Protein: ENSMUSP00000103762
Gene: ENSMUSG00000028300
AA Change: Y32C

DomainStartEndE-ValueType
Pfam:C9orf72-like 61 324 1.9e-99 PFAM
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.5%
  • 10x: 98.4%
  • 20x: 94.2%
Validation Efficiency 100% (68/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T G 15: 60,791,996 (GRCm39) I211L probably benign Het
Abhd16b G A 2: 181,135,527 (GRCm39) R143H possibly damaging Het
Abt1 T C 13: 23,606,402 (GRCm39) E184G probably damaging Het
Aqp1 AGG AGGG 6: 55,322,498 (GRCm39) probably null Het
Asxl3 G A 18: 22,650,642 (GRCm39) R877Q probably damaging Het
B3galt1 A G 2: 67,948,320 (GRCm39) T12A possibly damaging Het
Bcat1 G A 6: 144,955,819 (GRCm39) P354L probably damaging Het
Cad T C 5: 31,218,271 (GRCm39) F452L possibly damaging Het
Cadps2 T A 6: 23,328,897 (GRCm39) I973F probably benign Het
Cenpq T C 17: 41,243,720 (GRCm39) N43D probably damaging Het
Chd9 G T 8: 91,762,960 (GRCm39) V2262L probably damaging Het
Cttnbp2nl G T 3: 104,913,402 (GRCm39) Q161K probably damaging Het
D630003M21Rik A T 2: 158,058,510 (GRCm39) H463Q probably benign Het
Defb1 C T 8: 22,284,500 (GRCm39) H40Y probably benign Het
Dmrtb1 A T 4: 107,534,256 (GRCm39) D186E probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Efr3a T A 15: 65,738,644 (GRCm39) F758I probably damaging Het
Fap A G 2: 62,349,385 (GRCm39) I501T probably benign Het
Galr3 C T 15: 78,927,524 (GRCm39) R322* probably null Het
Hrnr C A 3: 93,231,039 (GRCm39) R426S unknown Het
Hsp90ab1 A T 17: 45,880,201 (GRCm39) M476K possibly damaging Het
Igsf3 G T 3: 101,362,595 (GRCm39) R872L probably benign Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Iqsec3 T G 6: 121,449,989 (GRCm39) R178S unknown Het
Itgbl1 T C 14: 124,094,955 (GRCm39) C327R probably damaging Het
Itsn2 A T 12: 4,723,602 (GRCm39) Q1179L possibly damaging Het
Kcnb2 T C 1: 15,781,851 (GRCm39) *908R probably null Het
Kdm5b G T 1: 134,547,411 (GRCm39) W1020L possibly damaging Het
Kpna3 C A 14: 61,608,367 (GRCm39) V364L probably damaging Het
Lsm14a T C 7: 34,074,662 (GRCm39) I93V probably benign Het
Mast2 A G 4: 116,292,644 (GRCm39) S109P probably benign Het
Muc4 G A 16: 32,575,678 (GRCm39) S1726N unknown Het
Myo7a T C 7: 97,715,653 (GRCm39) D1477G probably damaging Het
Nostrin G A 2: 69,011,264 (GRCm39) probably null Het
Oasl1 T A 5: 115,074,996 (GRCm39) V352E probably damaging Het
Or9a2 T A 6: 41,748,472 (GRCm39) T254S probably benign Het
Pafah1b1 A G 11: 74,575,319 (GRCm39) V195A probably damaging Het
Pcdhb4 G A 18: 37,442,453 (GRCm39) V588M probably damaging Het
Pcsk5 A G 19: 17,487,530 (GRCm39) probably null Het
Peg10 A G 6: 4,756,707 (GRCm39) I428V unknown Het
Pmfbp1 G A 8: 110,263,669 (GRCm39) V824M probably damaging Het
Prkag3 T C 1: 74,787,118 (GRCm39) R47G possibly damaging Het
Prl8a1 T A 13: 27,758,028 (GRCm39) H227L probably benign Het
Prune2 A G 19: 17,101,288 (GRCm39) D2264G probably benign Het
Psg28 A G 7: 18,164,311 (GRCm39) Y134H probably benign Het
Rab3gap2 T A 1: 184,999,447 (GRCm39) Y1019N possibly damaging Het
Rbm15 A T 3: 107,238,966 (GRCm39) F477L probably damaging Het
Ric1 A T 19: 29,563,973 (GRCm39) N576Y probably damaging Het
S1pr1 T A 3: 115,506,298 (GRCm39) T99S probably benign Het
Serpinb9b G T 13: 33,219,531 (GRCm39) V153F probably null Het
Sh2d3c A G 2: 32,615,276 (GRCm39) E122G probably benign Het
Slc6a11 T A 6: 114,108,442 (GRCm39) W69R probably damaging Het
Slco6c1 T A 1: 97,000,686 (GRCm39) I539F probably damaging Het
Smgc G T 15: 91,733,322 (GRCm39) probably null Het
Spata17 T C 1: 186,849,653 (GRCm39) Y194C probably damaging Het
Tap1 A T 17: 34,412,293 (GRCm39) probably null Het
Topbp1 T C 9: 103,197,740 (GRCm39) S440P probably benign Het
Trpc6 T C 9: 8,609,982 (GRCm39) L150P probably damaging Het
Ttll4 C T 1: 74,726,489 (GRCm39) Q696* probably null Het
Ubash3b C T 9: 40,937,624 (GRCm39) E447K probably damaging Het
Unc5cl T C 17: 48,774,438 (GRCm39) S477P possibly damaging Het
Unc80 A G 1: 66,688,072 (GRCm39) T2357A probably benign Het
Vmn1r58 A T 7: 5,413,341 (GRCm39) S296R probably benign Het
Vmn2r85 G T 10: 130,261,820 (GRCm39) N172K probably benign Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Yipf7 T A 5: 69,684,570 (GRCm39) T82S probably benign Het
Zap70 A G 1: 36,820,287 (GRCm39) S523G probably damaging Het
Zfp354a A G 11: 50,960,490 (GRCm39) T233A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TCCAGTTTCCGTCGAAGATTAATG -3'
(R):5'- TGGCTGAACCTGATCACTGTTC -3'

Sequencing Primer
(F):5'- ACATCTATAGCCCCACTCT -3'
(R):5'- GAACCTGATCACTGTTCTTTTGTATG -3'
Posted On 2020-06-30