Incidental Mutation 'IGL02205:Ctdsp1'
ID 284439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctdsp1
Ensembl Gene ENSMUSG00000026176
Gene Name CTD small phosphatase 1
Synonyms SCP1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02205
Quality Score
Status
Chromosome 1
Chromosomal Location 74430668-74436444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74432993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 92 (A92V)
Ref Sequence ENSEMBL: ENSMUSP00000114526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027367] [ENSMUST00000152659]
AlphaFold P58466
Predicted Effect probably benign
Transcript: ENSMUST00000027367
AA Change: A85V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000027367
Gene: ENSMUSG00000026176
AA Change: A85V

DomainStartEndE-ValueType
CPDc 89 232 9.18e-77 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141175
Predicted Effect possibly damaging
Transcript: ENSMUST00000152659
AA Change: A92V

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114526
Gene: ENSMUSG00000026176
AA Change: A92V

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
PDB:1T9Z|A 83 131 2e-26 PDB
Blast:CPDc 96 131 2e-16 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid T G 11: 117,725,982 (GRCm39) L150R probably damaging Het
Ankrd27 T G 7: 35,316,364 (GRCm39) D543E probably damaging Het
Anks1b T G 10: 89,906,956 (GRCm39) L258V probably benign Het
Cacna1i T C 15: 80,257,152 (GRCm39) F1087S probably benign Het
Chd2 A T 7: 73,091,465 (GRCm39) I1592K probably benign Het
Cmip G A 8: 118,181,714 (GRCm39) V674I probably damaging Het
Col4a2 C T 8: 11,481,305 (GRCm39) Q826* probably null Het
Dnajc10 T A 2: 80,179,702 (GRCm39) S745R possibly damaging Het
Dpp4 T C 2: 62,182,601 (GRCm39) Y560C probably damaging Het
Fbxl6 A G 15: 76,421,541 (GRCm39) M232T probably benign Het
Gm5414 A G 15: 101,534,304 (GRCm39) F267L probably benign Het
Heatr5a A G 12: 51,924,120 (GRCm39) I2031T probably damaging Het
Hmcn2 T G 2: 31,290,139 (GRCm39) V2324G probably damaging Het
Hnmt A T 2: 23,909,157 (GRCm39) N85K probably damaging Het
Kcng4 G T 8: 120,352,822 (GRCm39) R363S probably damaging Het
Kif18a T C 2: 109,137,363 (GRCm39) probably benign Het
Lrrc8b A T 5: 105,629,703 (GRCm39) Y683F probably benign Het
Mepce G T 5: 137,782,757 (GRCm39) T523K probably benign Het
Mroh1 T C 15: 76,321,439 (GRCm39) V1040A possibly damaging Het
Myof A G 19: 37,913,083 (GRCm39) Y1470H probably damaging Het
Or5p50 A G 7: 107,421,798 (GRCm39) Y293H probably damaging Het
Otol1 T C 3: 69,925,929 (GRCm39) S35P probably benign Het
P4htm T C 9: 108,459,161 (GRCm39) D257G probably benign Het
Pcdhb15 A G 18: 37,607,010 (GRCm39) T81A probably damaging Het
Polg2 T C 11: 106,669,946 (GRCm39) E108G probably benign Het
Rfx7 T A 9: 72,514,932 (GRCm39) H143Q probably damaging Het
Sf3b2 A G 19: 5,333,765 (GRCm39) V611A probably benign Het
Slc10a7 G T 8: 79,423,932 (GRCm39) K203N probably benign Het
Slc12a5 T A 2: 164,838,399 (GRCm39) V1046D probably benign Het
Tacc2 A T 7: 130,228,412 (GRCm39) D1718V probably damaging Het
Unc79 T A 12: 103,045,260 (GRCm39) I812N probably damaging Het
Vps13c A G 9: 67,790,736 (GRCm39) Y338C probably damaging Het
Wdr17 T C 8: 55,149,335 (GRCm39) Y31C probably damaging Het
Zfp654 A T 16: 64,606,329 (GRCm39) N624K probably damaging Het
Other mutations in Ctdsp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01954:Ctdsp1 APN 1 74,433,242 (GRCm39) unclassified probably benign
IGL02011:Ctdsp1 APN 1 74,433,175 (GRCm39) splice site probably benign
IGL02014:Ctdsp1 APN 1 74,433,175 (GRCm39) splice site probably benign
IGL03011:Ctdsp1 APN 1 74,434,606 (GRCm39) unclassified probably benign
budgie UTSW 1 74,434,676 (GRCm39) missense possibly damaging 0.90
lorikeet UTSW 1 74,433,806 (GRCm39) missense probably damaging 1.00
R0811:Ctdsp1 UTSW 1 74,433,806 (GRCm39) missense probably damaging 1.00
R0812:Ctdsp1 UTSW 1 74,433,806 (GRCm39) missense probably damaging 1.00
R4725:Ctdsp1 UTSW 1 74,433,823 (GRCm39) missense possibly damaging 0.65
R5777:Ctdsp1 UTSW 1 74,433,227 (GRCm39) missense probably damaging 0.96
R7328:Ctdsp1 UTSW 1 74,433,199 (GRCm39) missense probably damaging 0.98
R9020:Ctdsp1 UTSW 1 74,434,676 (GRCm39) missense possibly damaging 0.90
R9106:Ctdsp1 UTSW 1 74,433,884 (GRCm39) missense probably damaging 1.00
R9163:Ctdsp1 UTSW 1 74,434,126 (GRCm39) missense possibly damaging 0.93
R9226:Ctdsp1 UTSW 1 74,434,735 (GRCm39) missense probably damaging 0.96
Posted On 2015-04-16