Incidental Mutation 'R1988:Ctdp1'
ID 222934
Institutional Source Beutler Lab
Gene Symbol Ctdp1
Ensembl Gene ENSMUSG00000033323
Gene Name CTD phosphatase subunit 1
Synonyms 4930563P03Rik
MMRRC Submission 040000-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # R1988 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 80451174-80512910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80492616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 626 (D626E)
Ref Sequence ENSEMBL: ENSMUSP00000038938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036229]
AlphaFold Q7TSG2
Predicted Effect possibly damaging
Transcript: ENSMUST00000036229
AA Change: D626E

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038938
Gene: ENSMUSG00000033323
AA Change: D626E

DomainStartEndE-ValueType
low complexity region 55 72 N/A INTRINSIC
CPDc 181 327 1.21e-62 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 568 587 N/A INTRINSIC
BRCT 621 708 9.62e-7 SMART
low complexity region 779 787 N/A INTRINSIC
low complexity region 879 889 N/A INTRINSIC
PDB:1ONV|B 890 921 2e-6 PDB
coiled coil region 936 959 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 96% (79/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,394 (GRCm39) D216V possibly damaging Het
2610021A01Rik C T 7: 41,276,081 (GRCm39) R595* probably null Het
Adgrl3 A G 5: 81,836,414 (GRCm39) D724G probably damaging Het
Akap6 T C 12: 53,187,578 (GRCm39) F1664S possibly damaging Het
Akt1 T C 12: 112,621,585 (GRCm39) I404V probably benign Het
Anxa13 T A 15: 58,205,344 (GRCm39) noncoding transcript Het
Atoh1 T C 6: 64,706,617 (GRCm39) V104A probably benign Het
Brwd1 T C 16: 95,822,437 (GRCm39) D1256G probably damaging Het
C9 ATTTT ATTT 15: 6,512,619 (GRCm39) probably null Het
Cd164 A G 10: 41,399,177 (GRCm39) T89A probably benign Het
Cep350 G C 1: 155,808,850 (GRCm39) N575K possibly damaging Het
Chrm5 A G 2: 112,310,597 (GRCm39) V173A probably damaging Het
Cnot1 A G 8: 96,468,572 (GRCm39) V1417A possibly damaging Het
Cntnap3 T C 13: 64,906,204 (GRCm39) T801A probably damaging Het
Cntnap5b A C 1: 99,999,865 (GRCm39) K208Q possibly damaging Het
Crx A T 7: 15,603,272 (GRCm39) V107D possibly damaging Het
Csrnp2 A G 15: 100,387,321 (GRCm39) F49S probably damaging Het
Ctbp1 A G 5: 33,408,248 (GRCm39) L228P possibly damaging Het
Cyp1a2 T C 9: 57,589,569 (GRCm39) T82A possibly damaging Het
Dnah3 T A 7: 119,566,793 (GRCm39) T2478S possibly damaging Het
Dnah3 T G 7: 119,567,182 (GRCm39) D2348A probably damaging Het
Dnah5 T C 15: 28,343,737 (GRCm39) I2379T probably damaging Het
Dnah6 A G 6: 73,069,175 (GRCm39) I2504T probably damaging Het
Dnase1l2 A C 17: 24,660,625 (GRCm39) W138G probably damaging Het
Dop1b T A 16: 93,563,061 (GRCm39) I855N probably damaging Het
Dsc3 T A 18: 20,098,903 (GRCm39) N759Y possibly damaging Het
Dtx2 C T 5: 136,061,147 (GRCm39) R510* probably null Het
Fat4 G T 3: 38,941,264 (GRCm39) M52I probably benign Het
Fat4 G A 3: 39,050,239 (GRCm39) E4034K probably damaging Het
Fezf2 T C 14: 12,344,350 (GRCm38) K279R probably damaging Het
Fsip2 G T 2: 82,806,861 (GRCm39) W1060L possibly damaging Het
G6pc1 T A 11: 101,258,768 (GRCm39) I49N probably damaging Het
Gars1 A G 6: 55,054,757 (GRCm39) E688G probably null Het
Gdf11 T C 10: 128,721,111 (GRCm39) N361S probably benign Het
Gli3 A C 13: 15,900,965 (GRCm39) M1451L probably benign Het
Heatr3 T C 8: 88,876,945 (GRCm39) I329T probably benign Het
Herc3 T G 6: 58,861,960 (GRCm39) probably null Het
Hrnr A G 3: 93,239,911 (GRCm39) N3383S unknown Het
Igsf3 A T 3: 101,338,612 (GRCm39) I309F probably benign Het
Kif21b C T 1: 136,080,002 (GRCm39) R513W probably damaging Het
Kif7 G T 7: 79,348,989 (GRCm39) H1195Q probably benign Het
Lpcat4 T C 2: 112,072,887 (GRCm39) V182A possibly damaging Het
Map3k21 T A 8: 126,654,294 (GRCm39) I371N probably benign Het
Mns1 G A 9: 72,356,041 (GRCm39) probably null Het
Myo3a A G 2: 22,468,140 (GRCm39) T465A possibly damaging Het
Nlrc4 A T 17: 74,733,938 (GRCm39) S992T probably benign Het
Notch4 G A 17: 34,806,562 (GRCm39) G1833E possibly damaging Het
Or52ad1 T A 7: 102,995,316 (GRCm39) Y273F possibly damaging Het
Or52n2 T C 7: 104,542,110 (GRCm39) T242A probably damaging Het
Or5g29 G A 2: 85,420,985 (GRCm39) V34I probably benign Het
Or5p5 A T 7: 107,413,907 (GRCm39) I39L probably benign Het
Or8a1b A T 9: 37,622,993 (GRCm39) I194K possibly damaging Het
Pcdh9 G A 14: 94,125,741 (GRCm39) P143L probably damaging Het
Pik3cd T A 4: 149,747,660 (GRCm39) T28S probably damaging Het
Pkd1 G T 17: 24,795,566 (GRCm39) probably null Het
Plk4 A T 3: 40,760,252 (GRCm39) S383C possibly damaging Het
Plxna2 T C 1: 194,326,297 (GRCm39) L77P probably damaging Het
Ppm1f T C 16: 16,741,530 (GRCm39) S335P probably damaging Het
Prr16 C T 18: 51,436,349 (GRCm39) P276L probably damaging Het
Rilp A G 11: 75,401,759 (GRCm39) probably null Het
Rspry1 A G 8: 95,358,682 (GRCm39) probably null Het
Serpinb9b T C 13: 33,213,542 (GRCm39) V33A probably benign Het
Slc4a10 C A 2: 62,098,548 (GRCm39) Q561K probably damaging Het
Smyd5 T C 6: 85,415,118 (GRCm39) I42T possibly damaging Het
Stk17b T C 1: 53,800,241 (GRCm39) N246D probably damaging Het
Suco T C 1: 161,646,380 (GRCm39) probably null Het
Tecpr1 C T 5: 144,141,515 (GRCm39) V785M possibly damaging Het
Telo2 C T 17: 25,320,642 (GRCm39) V756I probably benign Het
Tgm1 C T 14: 55,943,034 (GRCm39) R602H probably benign Het
Timeless A G 10: 128,080,056 (GRCm39) T402A probably damaging Het
Tnfaip2 T A 12: 111,416,325 (GRCm39) probably null Het
Trgc3 C A 13: 19,445,164 (GRCm39) F37L probably damaging Het
Trim5 A G 7: 103,914,828 (GRCm39) S414P probably damaging Het
Txnip A G 3: 96,467,066 (GRCm39) T247A possibly damaging Het
Vmn1r174 A T 7: 23,454,050 (GRCm39) T239S probably damaging Het
Vmn1r231 T A 17: 21,110,212 (GRCm39) E234D probably damaging Het
Zranb3 A T 1: 127,887,480 (GRCm39) N982K probably benign Het
Other mutations in Ctdp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Ctdp1 APN 18 80,501,907 (GRCm39) splice site probably null
IGL01695:Ctdp1 APN 18 80,492,841 (GRCm39) missense probably damaging 1.00
IGL01865:Ctdp1 APN 18 80,499,199 (GRCm39) missense probably damaging 1.00
IGL02009:Ctdp1 APN 18 80,499,187 (GRCm39) missense probably damaging 1.00
IGL02419:Ctdp1 APN 18 80,463,799 (GRCm39) missense probably damaging 1.00
IGL02580:Ctdp1 APN 18 80,493,305 (GRCm39) missense probably benign 0.01
IGL02699:Ctdp1 APN 18 80,493,400 (GRCm39) missense probably benign
IGL03117:Ctdp1 APN 18 80,492,716 (GRCm39) missense probably damaging 0.98
IGL03301:Ctdp1 APN 18 80,492,849 (GRCm39) nonsense probably null
IGL03385:Ctdp1 APN 18 80,493,133 (GRCm39) missense probably damaging 1.00
R0370:Ctdp1 UTSW 18 80,492,569 (GRCm39) missense probably damaging 1.00
R0374:Ctdp1 UTSW 18 80,490,637 (GRCm39) critical splice donor site probably null
R0730:Ctdp1 UTSW 18 80,493,457 (GRCm39) missense probably benign 0.00
R0894:Ctdp1 UTSW 18 80,512,736 (GRCm39) missense probably benign 0.09
R1187:Ctdp1 UTSW 18 80,492,702 (GRCm39) missense probably damaging 1.00
R1437:Ctdp1 UTSW 18 80,493,428 (GRCm39) missense probably benign 0.01
R2192:Ctdp1 UTSW 18 80,492,696 (GRCm39) missense probably benign 0.30
R3709:Ctdp1 UTSW 18 80,493,428 (GRCm39) nonsense probably null
R3724:Ctdp1 UTSW 18 80,502,482 (GRCm39) missense probably benign 0.16
R3756:Ctdp1 UTSW 18 80,495,566 (GRCm39) missense probably damaging 0.98
R4297:Ctdp1 UTSW 18 80,493,172 (GRCm39) missense probably benign
R4298:Ctdp1 UTSW 18 80,493,172 (GRCm39) missense probably benign
R4640:Ctdp1 UTSW 18 80,494,369 (GRCm39) critical splice donor site probably null
R4841:Ctdp1 UTSW 18 80,451,941 (GRCm39) missense unknown
R4842:Ctdp1 UTSW 18 80,451,941 (GRCm39) missense unknown
R5007:Ctdp1 UTSW 18 80,463,695 (GRCm39) missense probably damaging 0.99
R5055:Ctdp1 UTSW 18 80,499,303 (GRCm39) missense probably damaging 1.00
R5219:Ctdp1 UTSW 18 80,490,675 (GRCm39) missense probably damaging 1.00
R5870:Ctdp1 UTSW 18 80,451,901 (GRCm39) missense unknown
R5896:Ctdp1 UTSW 18 80,502,003 (GRCm39) missense probably damaging 1.00
R6242:Ctdp1 UTSW 18 80,502,427 (GRCm39) missense probably damaging 1.00
R6255:Ctdp1 UTSW 18 80,502,512 (GRCm39) critical splice acceptor site probably null
R6300:Ctdp1 UTSW 18 80,502,455 (GRCm39) missense probably benign 0.26
R6431:Ctdp1 UTSW 18 80,494,470 (GRCm39) missense probably damaging 0.96
R6462:Ctdp1 UTSW 18 80,463,689 (GRCm39) missense probably damaging 0.98
R6512:Ctdp1 UTSW 18 80,494,478 (GRCm39) missense probably damaging 1.00
R6537:Ctdp1 UTSW 18 80,492,766 (GRCm39) missense probably benign
R6802:Ctdp1 UTSW 18 80,463,656 (GRCm39) critical splice donor site probably null
R7477:Ctdp1 UTSW 18 80,483,929 (GRCm39) splice site probably null
R8121:Ctdp1 UTSW 18 80,499,223 (GRCm39) missense probably damaging 1.00
R8348:Ctdp1 UTSW 18 80,493,325 (GRCm39) missense probably benign 0.00
R8350:Ctdp1 UTSW 18 80,512,494 (GRCm39) missense probably benign 0.03
R8513:Ctdp1 UTSW 18 80,492,678 (GRCm39) missense possibly damaging 0.49
R9140:Ctdp1 UTSW 18 80,484,043 (GRCm39) critical splice donor site probably null
R9339:Ctdp1 UTSW 18 80,492,689 (GRCm39) missense probably damaging 1.00
R9617:Ctdp1 UTSW 18 80,492,962 (GRCm39) missense probably benign
R9758:Ctdp1 UTSW 18 80,492,710 (GRCm39) missense probably damaging 1.00
R9762:Ctdp1 UTSW 18 80,492,550 (GRCm39) nonsense probably null
X0020:Ctdp1 UTSW 18 80,493,205 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GAGTACTACAGCTGCATGTCC -3'
(R):5'- AGTCCCTAGATCAGAGTGTCG -3'

Sequencing Primer
(F):5'- AGCTGCATGTCCCCACC -3'
(R):5'- CCTAGATCAGAGTGTCGGGGAG -3'
Posted On 2014-08-25