Incidental Mutation 'R5777:Ctdsp1'
ID 501510
Institutional Source Beutler Lab
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 # R5777 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 74430668-74436444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74433227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 131 (V131A)
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: V124A

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027367
Gene: ENSMUSG00000026176
AA Change: V124A

DomainStartEndE-ValueType
CPDc 89 232 9.18e-77 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141175
Predicted Effect probably damaging
Transcript: ENSMUST00000152659
AA Change: V131A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114526
Gene: ENSMUSG00000026176
AA Change: V131A

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp T C 8: 106,294,000 (GRCm39) E41G probably benign Het
Amph A T 13: 19,230,186 (GRCm39) N45Y probably damaging Het
Atp11a T A 8: 12,882,522 (GRCm39) L470Q probably damaging Het
C130073F10Rik T A 4: 101,747,946 (GRCm39) Y76F possibly damaging Het
Casp12 A T 9: 5,354,548 (GRCm39) I306F probably benign Het
Cobll1 A T 2: 64,933,612 (GRCm39) M460K probably benign Het
Col6a4 A T 9: 105,890,895 (GRCm39) L1800I possibly damaging Het
Ctnna3 A G 10: 64,511,664 (GRCm39) H618R probably benign Het
Dhx38 C A 8: 110,283,534 (GRCm39) V538L possibly damaging Het
Dtwd1 A G 2: 126,001,733 (GRCm39) D151G probably damaging Het
Fbxw28 A G 9: 109,167,604 (GRCm39) L51P probably damaging Het
Gm4781 C T 10: 100,232,831 (GRCm39) noncoding transcript Het
Gm5134 C A 10: 75,840,594 (GRCm39) F479L probably benign Het
H2bc27 A G 11: 58,839,835 (GRCm39) K24E probably benign Het
Hexa T G 9: 59,468,243 (GRCm39) V290G probably damaging Het
Ifi206 C T 1: 173,308,928 (GRCm39) R356K possibly damaging Het
Kcnj12 G A 11: 60,961,277 (GRCm39) R525Q possibly damaging Het
Lrp2 A T 2: 69,285,869 (GRCm39) I3774N probably damaging Het
Msh4 C A 3: 153,569,076 (GRCm39) M832I probably benign Het
Myh10 A G 11: 68,676,685 (GRCm39) E852G probably damaging Het
Ndufaf1 A T 2: 119,490,963 (GRCm39) C32* probably null Het
Nos2 A G 11: 78,830,978 (GRCm39) E387G probably null Het
Or4f58 C T 2: 111,851,876 (GRCm39) G108R probably damaging Het
Or55b10 A G 7: 102,143,178 (GRCm39) V268A probably benign Het
Or5h27 T A 16: 59,006,266 (GRCm39) L193F unknown Het
Or7a36 A C 10: 78,820,512 (GRCm39) D296A possibly damaging Het
Or7g29 A T 9: 19,287,014 (GRCm39) H54Q probably benign Het
Or8j3c A G 2: 86,253,669 (GRCm39) V117A probably benign Het
P3h3 T C 6: 124,832,921 (GRCm39) T211A probably benign Het
Pcdh7 A G 5: 57,876,856 (GRCm39) N137S probably damaging Het
Pgf T C 12: 85,216,148 (GRCm39) T157A possibly damaging Het
Prex1 T C 2: 166,428,579 (GRCm39) D714G probably damaging Het
Scn7a T C 2: 66,522,913 (GRCm39) I930M probably damaging Het
Siglecg T C 7: 43,058,837 (GRCm39) S197P possibly damaging Het
Skint7 T A 4: 111,845,289 (GRCm39) I367N probably benign Het
Slfn5 A T 11: 82,851,830 (GRCm39) D652V probably damaging Het
Stx1b G A 7: 127,410,090 (GRCm39) Q3* probably null Het
Tex35 T C 1: 156,934,777 (GRCm39) M46V probably benign Het
Tkt A C 14: 30,280,733 (GRCm39) T55P possibly damaging Het
Trim30c T C 7: 104,032,538 (GRCm39) R263G probably benign Het
U2af2 G A 7: 5,069,450 (GRCm39) R33Q probably benign Het
Washc4 T A 10: 83,391,469 (GRCm39) V182D probably damaging Het
Xirp2 T C 2: 67,340,348 (GRCm39) V863A possibly damaging Het
Zfp976 T G 7: 42,263,504 (GRCm39) H111P probably benign Het
Zfp982 A T 4: 147,595,321 (GRCm39) N48Y 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
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
R4725:Ctdsp1 UTSW 1 74,433,823 (GRCm39) missense possibly damaging 0.65
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'- TGGTGCACAGCTCCTTCAAG -3'
(R):5'- ATTACTTGAACTGGGTCCCGG -3'

Sequencing Primer
(F):5'- ACAGCTCCTTCAAGGTGGG -3'
(R):5'- CCAGAAGGAGCCCAGTGTG -3'
Posted On 2017-12-01