Incidental Mutation 'IGL02205:Ctdsp1'
ID284439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctdsp1
Ensembl Gene ENSMUSG00000026176
Gene NameCTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1
SynonymsSCP1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02205
Quality Score
Status
Chromosome1
Chromosomal Location74391509-74397285 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 74393834 bp
ZygosityHeterozygous
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]
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: 117,835,156 L150R probably damaging Het
Ankrd27 T G 7: 35,616,939 D543E probably damaging Het
Anks1b T G 10: 90,071,094 L258V probably benign Het
Cacna1i T C 15: 80,372,951 F1087S probably benign Het
Chd2 A T 7: 73,441,717 I1592K probably benign Het
Cmip G A 8: 117,454,975 V674I probably damaging Het
Col4a2 C T 8: 11,431,305 Q826* probably null Het
Dnajc10 T A 2: 80,349,358 S745R possibly damaging Het
Dpp4 T C 2: 62,352,257 Y560C probably damaging Het
Fbxl6 A G 15: 76,537,341 M232T probably benign Het
Gm5414 A G 15: 101,625,869 F267L probably benign Het
Heatr5a A G 12: 51,877,337 I2031T probably damaging Het
Hmcn2 T G 2: 31,400,127 V2324G probably damaging Het
Hnmt A T 2: 24,019,145 N85K probably damaging Het
Kcng4 G T 8: 119,626,083 R363S probably damaging Het
Kif18a T C 2: 109,307,018 probably benign Het
Lrrc8b A T 5: 105,481,837 Y683F probably benign Het
Mepce G T 5: 137,784,495 T523K probably benign Het
Mroh1 T C 15: 76,437,239 V1040A possibly damaging Het
Myof A G 19: 37,924,635 Y1470H probably damaging Het
Olfr469 A G 7: 107,822,591 Y293H probably damaging Het
Otol1 T C 3: 70,018,596 S35P probably benign Het
P4htm T C 9: 108,581,962 D257G probably benign Het
Pcdhb15 A G 18: 37,473,957 T81A probably damaging Het
Polg2 T C 11: 106,779,120 E108G probably benign Het
Rfx7 T A 9: 72,607,650 H143Q probably damaging Het
Sf3b2 A G 19: 5,283,737 V611A probably benign Het
Slc10a7 G T 8: 78,697,303 K203N probably benign Het
Slc12a5 T A 2: 164,996,479 V1046D probably benign Het
Tacc2 A T 7: 130,626,682 D1718V probably damaging Het
Unc79 T A 12: 103,079,001 I812N probably damaging Het
Vps13c A G 9: 67,883,454 Y338C probably damaging Het
Wdr17 T C 8: 54,696,300 Y31C probably damaging Het
Zfp654 A T 16: 64,785,966 N624K probably damaging Het
Other mutations in Ctdsp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01954:Ctdsp1 APN 1 74394083 unclassified probably benign
IGL02011:Ctdsp1 APN 1 74394016 splice site probably benign
IGL02014:Ctdsp1 APN 1 74394016 splice site probably benign
IGL03011:Ctdsp1 APN 1 74395447 unclassified probably benign
R0811:Ctdsp1 UTSW 1 74394647 missense probably damaging 1.00
R0812:Ctdsp1 UTSW 1 74394647 missense probably damaging 1.00
R4725:Ctdsp1 UTSW 1 74394664 missense possibly damaging 0.65
R5777:Ctdsp1 UTSW 1 74394068 missense probably damaging 0.96
R7328:Ctdsp1 UTSW 1 74394040 missense probably damaging 0.98
Posted On2015-04-16