Incidental Mutation 'IGL02419:Ctdp1'
ID292601
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctdp1
Ensembl Gene ENSMUSG00000033323
Gene NameCTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
Synonyms4930563P03Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #IGL02419
Quality Score
Status
Chromosome18
Chromosomal Location80407959-80469695 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80420584 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 79 (K79R)
Ref Sequence ENSEMBL: ENSMUSP00000123705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036229] [ENSMUST00000161003]
Predicted Effect probably damaging
Transcript: ENSMUST00000036229
AA Change: K867R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000038938
Gene: ENSMUSG00000033323
AA Change: K867R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160434
Predicted Effect probably damaging
Transcript: ENSMUST00000161003
AA Change: K79R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123705
Gene: ENSMUSG00000033323
AA Change: K79R

DomainStartEndE-ValueType
Pfam:FCP1_C 3 172 3.8e-92 PFAM
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik T C 8: 87,586,099 F171L possibly damaging Het
Abca2 A G 2: 25,446,837 N2291D probably benign Het
Adamts9 A G 6: 92,796,997 V1145A probably benign Het
Adcy2 A G 13: 68,982,363 V135A probably benign Het
Akr1c14 A T 13: 4,080,617 probably null Het
Aptx G T 4: 40,691,032 A229E probably benign Het
Ash1l T C 3: 88,985,565 S1584P probably benign Het
Catsper3 A T 13: 55,808,068 T329S possibly damaging Het
Cntrl A G 2: 35,134,043 D27G probably damaging Het
Cobll1 A T 2: 65,151,048 I98K probably damaging Het
Cwf19l2 T C 9: 3,418,777 probably null Het
Cyp11b2 A T 15: 74,851,055 F498Y probably damaging Het
Dnpep A G 1: 75,315,688 I162T probably damaging Het
Efcab9 T C 11: 32,522,950 I166V probably benign Het
Ep400 A T 5: 110,697,376 probably null Het
Gata6 G A 18: 11,054,220 G50R probably damaging Het
Gm9631 G A 11: 121,943,652 Het
Grifin T C 5: 140,564,700 T20A probably benign Het
Hnf4a A T 2: 163,566,282 I352F probably damaging Het
Ifi204 T C 1: 173,749,380 T552A possibly damaging Het
Ifi205 C T 1: 174,017,614 A201T probably damaging Het
Kcnk6 A G 7: 29,225,202 V259A probably benign Het
Kif21b A G 1: 136,151,267 N451S probably benign Het
Klhl24 T A 16: 20,107,368 Y215* probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mical1 A G 10: 41,482,277 K429E possibly damaging Het
Misp A G 10: 79,827,871 probably benign Het
Mon2 T C 10: 123,016,447 N1007S probably benign Het
Olfr1420 A T 19: 11,896,822 Y267F probably benign Het
Olfr228 T A 2: 86,482,915 I276F probably damaging Het
Olfr307 C A 7: 86,335,662 V245F probably damaging Het
Olfr624 A T 7: 103,670,475 C185* probably null Het
Pex6 C A 17: 46,724,435 T840N possibly damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rapgef3 G T 15: 97,750,290 N679K probably benign Het
Serpina3n T C 12: 104,413,518 V390A possibly damaging Het
Sirpb1a A G 3: 15,426,338 F23S probably benign Het
Slc44a3 T C 3: 121,490,257 T449A probably benign Het
Smad6 G A 9: 63,953,518 probably benign Het
Sos2 C T 12: 69,616,990 M573I probably benign Het
St8sia1 A T 6: 142,828,935 I306N probably damaging Het
Tnks1bp1 T C 2: 85,071,781 S1674P possibly damaging Het
Trim47 G A 11: 116,106,201 R576W probably damaging Het
Wdr86 A T 5: 24,722,704 I79N probably damaging Het
Wwp2 T A 8: 107,549,815 V473D probably damaging Het
Zc3h12a T C 4: 125,119,788 T428A probably benign Het
Zfp592 A G 7: 81,038,245 E973G probably damaging Het
Other mutations in Ctdp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00787:Ctdp1 APN 18 80458692 splice site probably null
IGL01695:Ctdp1 APN 18 80449626 missense probably damaging 1.00
IGL01865:Ctdp1 APN 18 80455984 missense probably damaging 1.00
IGL02009:Ctdp1 APN 18 80455972 missense probably damaging 1.00
IGL02580:Ctdp1 APN 18 80450090 missense probably benign 0.01
IGL02699:Ctdp1 APN 18 80450185 missense probably benign
IGL03117:Ctdp1 APN 18 80449501 missense probably damaging 0.98
IGL03301:Ctdp1 APN 18 80449634 nonsense probably null
IGL03385:Ctdp1 APN 18 80449918 missense probably damaging 1.00
R0370:Ctdp1 UTSW 18 80449354 missense probably damaging 1.00
R0374:Ctdp1 UTSW 18 80447422 critical splice donor site probably null
R0730:Ctdp1 UTSW 18 80450242 missense probably benign 0.00
R0894:Ctdp1 UTSW 18 80469521 missense probably benign 0.09
R1187:Ctdp1 UTSW 18 80449487 missense probably damaging 1.00
R1437:Ctdp1 UTSW 18 80450213 missense probably benign 0.01
R1988:Ctdp1 UTSW 18 80449401 missense possibly damaging 0.89
R2192:Ctdp1 UTSW 18 80449481 missense probably benign 0.30
R3709:Ctdp1 UTSW 18 80450213 nonsense probably null
R3724:Ctdp1 UTSW 18 80459267 missense probably benign 0.16
R3756:Ctdp1 UTSW 18 80452351 missense probably damaging 0.98
R4297:Ctdp1 UTSW 18 80449957 missense probably benign
R4298:Ctdp1 UTSW 18 80449957 missense probably benign
R4640:Ctdp1 UTSW 18 80451154 critical splice donor site probably null
R4841:Ctdp1 UTSW 18 80408726 missense unknown
R4842:Ctdp1 UTSW 18 80408726 missense unknown
R5007:Ctdp1 UTSW 18 80420480 missense probably damaging 0.99
R5055:Ctdp1 UTSW 18 80456088 missense probably damaging 1.00
R5219:Ctdp1 UTSW 18 80447460 missense probably damaging 1.00
R5870:Ctdp1 UTSW 18 80408686 missense unknown
R5896:Ctdp1 UTSW 18 80458788 missense probably damaging 1.00
R6242:Ctdp1 UTSW 18 80459212 missense probably damaging 1.00
R6255:Ctdp1 UTSW 18 80459297 critical splice acceptor site probably null
R6300:Ctdp1 UTSW 18 80459240 missense probably benign 0.26
R6431:Ctdp1 UTSW 18 80451255 missense probably damaging 0.96
R6462:Ctdp1 UTSW 18 80420474 missense probably damaging 0.98
R6512:Ctdp1 UTSW 18 80451263 missense probably damaging 1.00
R6537:Ctdp1 UTSW 18 80449551 missense probably benign
R6802:Ctdp1 UTSW 18 80420441 critical splice donor site probably null
X0020:Ctdp1 UTSW 18 80449990 missense probably benign 0.01
Posted On2015-04-16