Incidental Mutation 'IGL03301:Ctdp1'
ID416229
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: 0.902) question?
Stock #IGL03301
Quality Score
Status
Chromosome18
Chromosomal Location80407959-80469695 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 80449634 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 549 (Q549*)
Ref Sequence ENSEMBL: ENSMUSP00000038938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036229]
Predicted Effect probably null
Transcript: ENSMUST00000036229
AA Change: Q549*
SMART Domains Protein: ENSMUSP00000038938
Gene: ENSMUSG00000033323
AA Change: Q549*

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,707,404 E418G probably damaging Het
Arl14 T C 3: 69,222,943 F141S probably damaging Het
C1s1 A T 6: 124,541,324 probably benign Het
Cilp T C 9: 65,280,217 V1198A probably benign Het
Cnbd1 A T 4: 19,055,039 I129K probably benign Het
Cyp2ab1 T A 16: 20,313,799 I250F possibly damaging Het
Dmd G A X: 83,908,514 R1765Q probably damaging Het
Dnah1 C T 14: 31,292,692 G1739R probably damaging Het
Eml6 T C 11: 29,764,083 K1350E probably benign Het
Ephx4 C A 5: 107,426,864 T256K probably benign Het
Fnd3c2 G T X: 106,252,263 Q49K probably benign Het
Heatr1 G T 13: 12,434,205 G1889W probably damaging Het
Igkv19-93 A T 6: 68,736,481 W55R probably damaging Het
Jak1 T C 4: 101,175,173 Y412C probably damaging Het
Moxd1 A T 10: 24,279,484 N261I probably damaging Het
Mrgpra1 T C 7: 47,335,416 N172D probably benign Het
Papolg T C 11: 23,874,503 N293S probably benign Het
Piezo2 A G 18: 63,027,704 S2294P probably damaging Het
Ppp3cb A T 14: 20,523,984 V262D probably damaging Het
Rhox7a A G X: 37,840,011 T235A probably benign Het
Saal1 A G 7: 46,702,520 probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Slc22a2 A G 17: 12,606,039 R263G probably damaging Het
Speer3 T A 5: 13,795,433 L160H probably damaging Het
Tmcc2 T C 1: 132,360,819 M377V possibly damaging Het
Tsen2 T G 6: 115,568,771 Y341D probably damaging Het
Vmn2r13 A T 5: 109,158,089 V541D probably damaging Het
Vmn2r15 A G 5: 109,297,355 probably null Het
Zfp711 T C X: 112,633,401 Y710H probably damaging Het
Zmiz2 C T 11: 6,401,170 T566M 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
IGL02419:Ctdp1 APN 18 80420584 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
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
R7477:Ctdp1 UTSW 18 80440714 intron probably null
R8121:Ctdp1 UTSW 18 80456008 missense probably damaging 1.00
X0020:Ctdp1 UTSW 18 80449990 missense probably benign 0.01
Posted On2016-08-02