Incidental Mutation 'IGL02011:Ctdsp1'
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ID279272
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 #IGL02011
Quality Score
Status
Chromosome1
Chromosomal Location74391509-74397285 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 74394016 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027367] [ENSMUST00000152659]
Predicted Effect probably benign
Transcript: ENSMUST00000027367
SMART Domains Protein: ENSMUSP00000027367
Gene: ENSMUSG00000026176

DomainStartEndE-ValueType
CPDc 89 232 9.18e-77 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141175
Predicted Effect probably benign
Transcript: ENSMUST00000152659
SMART Domains Protein: ENSMUSP00000114526
Gene: ENSMUSG00000026176

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T A 14: 49,081,135 probably benign Het
Arg1 T C 10: 24,916,377 T215A probably benign Het
Arhgap15 A T 2: 43,780,755 K50N probably damaging Het
Cwc22 A T 2: 77,921,022 D363E possibly damaging Het
Drd2 G T 9: 49,406,958 C400F probably damaging Het
Eef1akmt1 A T 14: 57,558,098 Y65N probably damaging Het
Gbp10 C A 5: 105,221,101 G291W probably damaging Het
Lrit1 T A 14: 37,062,323 V536E probably damaging Het
Olfr1411 T A 1: 92,596,899 Y127N probably damaging Het
Olfr464 C A 11: 87,914,882 W8L probably benign Het
Olfr599 G T 7: 103,338,849 R265L probably damaging Het
Pcdh12 C T 18: 38,281,420 G884D probably damaging Het
Pih1d1 G T 7: 45,156,732 A31S probably damaging Het
Plcxd2 T C 16: 45,965,091 D317G probably damaging Het
Prkaca T C 8: 83,990,936 F231S probably damaging Het
Raet1d T A 10: 22,371,574 I183K probably damaging Het
Scaper A G 9: 55,580,322 F752S probably damaging Het
Shisa9 C T 16: 12,244,638 T241I possibly damaging Het
Taar9 C T 10: 24,108,579 R319H possibly damaging Het
Unkl T A 17: 25,218,591 V365E probably damaging Het
Usp34 C T 11: 23,471,554 S3077F probably damaging Het
Vps16 A G 2: 130,441,479 I566V probably benign Het
Vrk2 T A 11: 26,471,717 T414S probably benign Het
Xpnpep1 A T 19: 53,002,465 probably benign Het
Zfp804a A G 2: 82,256,691 Q288R probably damaging Het
Other mutations in Ctdsp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01954:Ctdsp1 APN 1 74394083 unclassified probably benign
IGL02014:Ctdsp1 APN 1 74394016 splice site probably benign
IGL02205:Ctdsp1 APN 1 74393834 missense possibly damaging 0.65
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