Incidental Mutation 'IGL02014:Ctdsp1'
ID279274
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 #IGL02014
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd44 C T 1: 54,657,620 G654S possibly damaging Het
Arl14ep C T 2: 106,967,113 A180T probably benign Het
Btbd9 A C 17: 30,517,150 S330A probably damaging Het
Cep78 T C 19: 15,984,738 D48G probably damaging Het
Col4a4 C T 1: 82,523,960 probably benign Het
Gapvd1 G A 2: 34,704,191 P949L probably damaging Het
Gas6 T C 8: 13,468,359 T492A possibly damaging Het
Igbp1b A T 6: 138,657,603 V281D probably benign Het
Mapk8ip3 G A 17: 24,903,280 probably benign Het
Met T C 6: 17,527,257 probably benign Het
Mmachc A G 4: 116,703,710 F196S probably damaging Het
Olfr618 T A 7: 103,597,730 I138N probably damaging Het
Pah A T 10: 87,581,927 T427S probably benign Het
Pcdh7 C A 5: 57,719,703 P200Q probably benign Het
Pde3a C A 6: 141,459,144 P365Q probably null Het
Pkm A G 9: 59,668,961 T143A possibly damaging Het
Plppr4 A G 3: 117,335,573 S82P probably damaging Het
Rnf165 A T 18: 77,468,359 V167E probably damaging Het
Ryr3 T C 2: 112,946,915 E299G possibly damaging Het
Sdk2 G A 11: 113,838,494 P1086S probably damaging Het
Spats1 G A 17: 45,461,240 R81C probably benign Het
Tbc1d2 T C 4: 46,649,778 N86S possibly damaging Het
Thegl T A 5: 77,047,155 F59I probably damaging Het
Vezt T A 10: 93,996,949 Y10F probably benign Het
Vmn1r174 C A 7: 23,754,158 P83H probably damaging Het
Vmn1r218 C T 13: 23,136,831 T36I probably damaging Het
Zmym4 A T 4: 126,900,669 N889K possibly 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
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