Incidental Mutation 'IGL01695:Ctdp1'
ID 104231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctdp1
Ensembl Gene ENSMUSG00000033323
Gene Name CTD phosphatase subunit 1
Synonyms 4930563P03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # IGL01695
Quality Score
Status
Chromosome 18
Chromosomal Location 80451174-80512910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80492841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 551 (S551R)
Ref Sequence ENSEMBL: ENSMUSP00000038938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036229]
AlphaFold Q7TSG2
Predicted Effect probably damaging
Transcript: ENSMUST00000036229
AA Change: S551R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038938
Gene: ENSMUSG00000033323
AA Change: S551R

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
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 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b2 T A 7: 81,126,687 (GRCm39) probably benign Het
Arfgef3 T C 10: 18,479,167 (GRCm39) T1483A probably benign Het
Arl5a A T 2: 52,302,117 (GRCm39) I99N probably damaging Het
Bahcc1 G A 11: 120,167,435 (GRCm39) G1279R probably benign Het
Bbs5 A G 2: 69,479,434 (GRCm39) N43S probably damaging Het
Bltp2 T C 11: 78,156,019 (GRCm39) V177A probably benign Het
Calhm5 A G 10: 33,968,198 (GRCm39) V285A possibly damaging Het
Cdh23 C T 10: 60,167,612 (GRCm39) V1795M probably benign Het
Cep350 T C 1: 155,819,904 (GRCm39) E353G probably damaging Het
Cps1 A T 1: 67,236,194 (GRCm39) I976L probably benign Het
Cyp2b19 C T 7: 26,458,489 (GRCm39) T68I probably damaging Het
Efcab3 A T 11: 104,626,889 (GRCm39) E864D probably damaging Het
Esr2 A G 12: 76,192,093 (GRCm39) S312P probably damaging Het
Gm6408 A G 5: 146,418,939 (GRCm39) probably benign Het
Krt9 A T 11: 100,082,263 (GRCm39) probably null Het
Myh6 T C 14: 55,194,870 (GRCm39) T662A probably benign Het
Ntn1 T C 11: 68,117,430 (GRCm39) D473G probably benign Het
Or51a7 T C 7: 102,614,790 (GRCm39) F161S probably damaging Het
Piezo1 A T 8: 123,222,248 (GRCm39) C961S possibly damaging Het
Pik3c2a T C 7: 116,016,753 (GRCm39) T335A possibly damaging Het
Plaa A T 4: 94,462,274 (GRCm39) Y140* probably null Het
Plxnb2 T C 15: 89,041,417 (GRCm39) I1749V possibly damaging Het
Ppp1r9a T A 6: 5,064,003 (GRCm39) N555K probably damaging Het
Ptprn2 T A 12: 116,805,008 (GRCm39) H174Q probably benign Het
Reln G A 5: 22,125,436 (GRCm39) T2749M probably damaging Het
Scarf1 A G 11: 75,412,783 (GRCm39) N384S probably damaging Het
Scrt1 T A 15: 76,403,150 (GRCm39) H280L unknown Het
Serpina1f C A 12: 103,659,943 (GRCm39) C113F probably damaging Het
Setdb2 A T 14: 59,639,742 (GRCm39) probably benign Het
Strc A G 2: 121,205,779 (GRCm39) L830P probably damaging Het
Tifab T C 13: 56,324,198 (GRCm39) S82G probably benign Het
Tmem217 T A 17: 29,745,322 (GRCm39) H136L probably damaging Het
Trio T C 15: 27,773,087 (GRCm39) E715G probably damaging Het
Ttn A T 2: 76,774,360 (GRCm39) M2182K probably damaging Het
Ube2d1 T C 10: 71,098,082 (GRCm39) D12G probably damaging Het
Utrn T C 10: 12,621,086 (GRCm39) D195G probably benign Het
Other mutations in Ctdp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Ctdp1 APN 18 80,501,907 (GRCm39) splice site probably null
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
R1988:Ctdp1 UTSW 18 80,492,616 (GRCm39) missense possibly damaging 0.89
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
Posted On 2014-01-21