Incidental Mutation 'IGL02823:3110043O21Rik'
ID361106
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 3110043O21Rik
Ensembl Gene ENSMUSG00000028300
Gene NameRIKEN cDNA 3110043O21 gene
SynonymsC9orf72
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02823
Quality Score
Status
Chromosome4
Chromosomal Location35191285-35226175 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 35213031 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 215 (C215S)
Ref Sequence ENSEMBL: ENSMUSP00000103762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084724] [ENSMUST00000108126] [ENSMUST00000108127]
Predicted Effect possibly damaging
Transcript: ENSMUST00000084724
AA Change: C215S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081775
Gene: ENSMUSG00000028300
AA Change: C215S

DomainStartEndE-ValueType
Pfam:C9orf72-like 60 325 6.8e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108126
AA Change: C51S

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103761
Gene: ENSMUSG00000028300
AA Change: C51S

DomainStartEndE-ValueType
Pfam:C9orf72-like 1 161 2e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108127
AA Change: C215S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103762
Gene: ENSMUSG00000028300
AA Change: C215S

DomainStartEndE-ValueType
Pfam:C9orf72-like 61 324 1.9e-99 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156472
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,261,955 S194P probably damaging Het
Abca7 T A 10: 80,008,822 D1488E probably damaging Het
Abhd18 A G 3: 40,933,518 probably benign Het
Atp6ap1l A G 13: 90,899,525 V56A probably benign Het
Atrip A G 9: 109,061,178 Y631H probably damaging Het
Dst A T 1: 34,192,083 H3097L possibly damaging Het
Ear1 G T 14: 43,819,045 S122* probably null Het
Eif2a G T 3: 58,548,671 A364S probably benign Het
Eps8l2 A T 7: 141,342,075 D22V probably damaging Het
Fam84b T C 15: 60,823,123 D258G probably damaging Het
Fndc7 A G 3: 108,869,171 F432S probably damaging Het
Gemin5 T C 11: 58,167,705 probably benign Het
Grxcr2 T C 18: 41,991,981 K121E probably damaging Het
Gucy1a2 T C 9: 3,894,656 I713T possibly damaging Het
Hs3st1 A G 5: 39,614,757 L181P probably damaging Het
Ksr1 C A 11: 79,021,403 V627L probably benign Het
Lama2 T C 10: 27,001,145 N2682D probably damaging Het
Map3k19 G T 1: 127,822,264 H1117N probably benign Het
Mdc1 C T 17: 35,852,923 A1121V probably damaging Het
Nlrp1a C T 11: 71,092,423 S1239N probably damaging Het
Olfr322 T C 11: 58,665,967 M136T possibly damaging Het
Prkra G T 2: 76,630,424 A310E probably damaging Het
Prl2c1 T C 13: 27,856,433 probably benign Het
Prl7a2 T C 13: 27,662,751 Y93C possibly damaging Het
Prob1 A T 18: 35,652,747 V818E possibly damaging Het
Rbbp8 A G 18: 11,732,213 S720G possibly damaging Het
Rexo4 T C 2: 26,962,477 T149A probably benign Het
Slc39a2 T A 14: 51,895,412 Y271N probably damaging Het
Sprr2d T A 3: 92,340,427 C58* probably null Het
Srebf2 G A 15: 82,199,774 G965D possibly damaging Het
Tcof1 T C 18: 60,816,048 E1265G probably benign Het
Terf2 T C 8: 107,072,625 N389S possibly damaging Het
Vsig10l T C 7: 43,466,464 S410P probably damaging Het
Vwa3b A T 1: 37,186,904 probably benign Het
Other mutations in 3110043O21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:3110043O21Rik APN 4 35213616 missense possibly damaging 0.57
IGL00718:3110043O21Rik APN 4 35213015 missense probably damaging 1.00
IGL01284:3110043O21Rik APN 4 35218808 missense probably damaging 0.96
IGL01998:3110043O21Rik APN 4 35194179 missense probably benign 0.30
IGL02185:3110043O21Rik APN 4 35197046 missense probably damaging 1.00
IGL02403:3110043O21Rik APN 4 35205887 splice site probably benign
R0194:3110043O21Rik UTSW 4 35197207 missense probably damaging 1.00
R0471:3110043O21Rik UTSW 4 35193257 missense probably benign 0.01
R1172:3110043O21Rik UTSW 4 35218630 missense probably damaging 0.99
R1175:3110043O21Rik UTSW 4 35218630 missense probably damaging 0.99
R1765:3110043O21Rik UTSW 4 35197098 missense probably damaging 1.00
R4326:3110043O21Rik UTSW 4 35225985 unclassified probably benign
R4327:3110043O21Rik UTSW 4 35225985 unclassified probably benign
R4328:3110043O21Rik UTSW 4 35225985 unclassified probably benign
R4679:3110043O21Rik UTSW 4 35226033 unclassified probably benign
R4844:3110043O21Rik UTSW 4 35213565 missense possibly damaging 0.47
R5150:3110043O21Rik UTSW 4 35193270 missense possibly damaging 0.92
R5528:3110043O21Rik UTSW 4 35213556 missense probably benign 0.18
R5789:3110043O21Rik UTSW 4 35226112 unclassified probably benign
R7790:3110043O21Rik UTSW 4 35192997 missense unknown
R7805:3110043O21Rik UTSW 4 35194170 missense
Posted On2015-12-18