Incidental Mutation 'R4725:Ctdsp1'
ID 358375
Institutional Source Beutler Lab
Gene Symbol Ctdsp1
Ensembl Gene ENSMUSG00000026176
Gene Name CTD small phosphatase 1
Synonyms SCP1
MMRRC Submission 041960-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4725 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 74430668-74436444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 74433823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 135 (V135I)
Ref Sequence ENSEMBL: ENSMUSP00000027367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027367] [ENSMUST00000152659]
AlphaFold P58466
Predicted Effect possibly damaging
Transcript: ENSMUST00000027367
AA Change: V135I

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027367
Gene: ENSMUSG00000026176
AA Change: V135I

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (64/67)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T C 9: 120,406,769 (GRCm39) probably benign Het
Adamts20 T C 15: 94,249,643 (GRCm39) E458G probably damaging Het
Adgrl3 T C 5: 81,914,052 (GRCm39) I1220T possibly damaging Het
Aldh1a1 T A 19: 20,617,445 (GRCm39) M459K probably benign Het
Bmal1 C A 7: 112,903,566 (GRCm39) P454Q possibly damaging Het
Camta1 A G 4: 151,232,953 (GRCm39) V240A probably benign Het
Ccdc88b C T 19: 6,834,481 (GRCm39) G149R probably damaging Het
Ceacam5 T C 7: 17,494,602 (GRCm39) V870A probably benign Het
Cep192 A C 18: 67,949,837 (GRCm39) Q307P probably benign Het
Cep63 T C 9: 102,467,755 (GRCm39) probably benign Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dchs1 T C 7: 105,404,460 (GRCm39) D2694G probably damaging Het
Dchs1 C G 7: 105,414,759 (GRCm39) G761A probably damaging Het
Dennd5b A G 6: 148,946,277 (GRCm39) Y445H probably damaging Het
Dock1 T A 7: 134,346,743 (GRCm39) L225* probably null Het
Drd3 G T 16: 43,643,164 (GRCm39) E467* probably null Het
Dysf A T 6: 84,074,738 (GRCm39) N527I probably damaging Het
Erbb2 A G 11: 98,315,970 (GRCm39) T358A possibly damaging Het
Fhad1 A T 4: 141,655,689 (GRCm39) probably null Het
Ganc T C 2: 120,265,754 (GRCm39) I434T probably damaging Het
Gm5830 T A 1: 78,945,549 (GRCm39) noncoding transcript Het
Gm6096 G T 7: 33,950,484 (GRCm39) E8* probably null Het
Gne A G 4: 44,066,806 (GRCm39) F63S probably benign Het
Gpat2 T C 2: 127,273,902 (GRCm39) V315A possibly damaging Het
Gpr33 A G 12: 52,070,892 (GRCm39) L49P probably damaging Het
Heatr1 C T 13: 12,439,543 (GRCm39) Q1374* probably null Het
Hivep1 A G 13: 42,316,887 (GRCm39) I2032V probably benign Het
Igkv2-112 A C 6: 68,197,450 (GRCm39) I40L probably benign Het
Kcnab3 A G 11: 69,221,294 (GRCm39) N204D probably benign Het
Kcnj10 T A 1: 172,196,726 (GRCm39) F80Y probably damaging Het
Lcmt2 C G 2: 120,969,911 (GRCm39) V171L probably benign Het
Loxhd1 T A 18: 77,483,153 (GRCm39) Y1245N probably damaging Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Mast1 A G 8: 85,655,635 (GRCm39) S170P possibly damaging Het
Mroh4 A G 15: 74,487,956 (GRCm39) L322P probably damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Nudcd3 A T 11: 6,143,475 (GRCm39) V1D probably damaging Het
Pah T A 10: 87,390,238 (GRCm39) L25Q probably damaging Het
Pik3cg A T 12: 32,243,596 (GRCm39) probably null Het
Pira13 A C 7: 3,824,547 (GRCm39) S611A probably benign Het
Plekha6 C A 1: 133,211,058 (GRCm39) S625Y probably damaging Het
Rtn4 T A 11: 29,658,362 (GRCm39) S839T probably damaging Het
Rusc1 A G 3: 88,998,736 (GRCm39) S349P possibly damaging Het
Samsn1 A T 16: 75,742,217 (GRCm39) noncoding transcript Het
Scimp A G 11: 70,691,539 (GRCm39) V30A probably damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Sgip1 A G 4: 102,823,419 (GRCm39) D680G probably damaging Het
Slc44a2 G A 9: 21,259,691 (GRCm39) V613M probably damaging Het
Smpdl3b T C 4: 132,472,489 (GRCm39) T95A probably damaging Het
Spag6l A T 16: 16,610,395 (GRCm39) L85H probably damaging Het
Sucla2 T A 14: 73,806,429 (GRCm39) Y167N possibly damaging Het
Svop G T 5: 114,203,546 (GRCm39) probably benign Het
Tnxb A T 17: 34,918,041 (GRCm39) D2318V probably damaging Het
Trbv14 A G 6: 41,112,332 (GRCm39) D43G probably benign Het
Ubn2 A G 6: 38,499,240 (GRCm39) probably benign Het
Ufsp1 T C 5: 137,293,569 (GRCm39) I173T probably damaging Het
Zbtb40 A G 4: 136,746,072 (GRCm39) probably benign 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
IGL02205:Ctdsp1 APN 1 74,432,993 (GRCm39) missense possibly damaging 0.65
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
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
Predicted Primers PCR Primer
(F):5'- TCCTGCATTTGGATAAAACCAGTG -3'
(R):5'- GTAGGCGGTTAAGTCACCTC -3'

Sequencing Primer
(F):5'- TGGGACCACGGGAATCCTATTC -3'
(R):5'- GTCACCTCAGAATGAGTAATGTCCAG -3'
Posted On 2015-11-11