Mutagenetix > Incidental Mutation

Incidental Mutation 'R4842:Ctdp1'

371966

Institutional Source

Beutler Lab

Gene Symbol

Ctdp1

Ensembl Gene

ENSMUSG00000033323

Gene Name

CTD phosphatase subunit 1

Synonyms

4930563P03Rik

MMRRC Submission

042455-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R4842 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80451174-80512910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80451941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 145 (S145P)

Ref Sequence

ENSEMBL: ENSMUSP00000123705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036229] [ENSMUST00000161003]

AlphaFold

Q7TSG2

Predicted Effect

unknown
Transcript: ENSMUST00000036229
AA Change: S933P

SMART Domains

Protein: ENSMUSP00000038938
Gene: ENSMUSG00000033323
AA Change: S933P

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000161003
AA Change: S145P

SMART Domains

Protein: ENSMUSP00000123705
Gene: ENSMUSG00000033323
AA Change: S145P

Domain	Start	End	E-Value	Type
Pfam:FCP1_C	3	172	3.8e-92	PFAM

Meta Mutation Damage Score

0.2178

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

95% (107/113)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 15,164,001 (GRCm39)	I43L	possibly damaging	Het
4930449A18Rik	T	A	3: 59,749,153 (GRCm39)		noncoding transcript	Het
Abcc8	T	C	7: 45,800,252 (GRCm39)	K510R	probably damaging	Het
Adamtsl3	C	T	7: 82,178,069 (GRCm39)	R511C	probably damaging	Het
Arhgap11a	T	C	2: 113,670,107 (GRCm39)	S339G	probably damaging	Het
C2cd3	A	G	7: 100,065,397 (GRCm39)	T728A	probably benign	Het
Cand1	C	A	10: 119,049,451 (GRCm39)		probably null	Het
Catspere1	A	T	1: 177,699,624 (GRCm39)		noncoding transcript	Het
Ccdc121rt2	A	T	5: 112,598,106 (GRCm39)	K218*	probably null	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Cdc16	A	G	8: 13,831,644 (GRCm39)		probably benign	Het
Ces1g	C	T	8: 94,060,323 (GRCm39)	E99K	probably benign	Het
Chrna7	A	C	7: 62,862,196 (GRCm39)	L10R	probably benign	Het
Clnk	C	T	5: 38,870,412 (GRCm39)		probably null	Het
Cntrob	C	G	11: 69,206,220 (GRCm39)	L315F	possibly damaging	Het
Dennd2a	T	C	6: 39,474,044 (GRCm39)	D430G	probably damaging	Het
Dnajc16	A	G	4: 141,501,936 (GRCm39)	F298S	probably damaging	Het
Dock5	T	C	14: 68,055,012 (GRCm39)	D618G	probably damaging	Het
Drc3	G	A	11: 60,261,361 (GRCm39)	A171T	probably benign	Het
Ecel1	A	T	1: 87,081,023 (GRCm39)	N322K	probably damaging	Het
Eftud2	A	G	11: 102,745,640 (GRCm39)	F362L	probably damaging	Het
Egfr	C	T	11: 16,861,607 (GRCm39)	H1129Y	probably benign	Het
Eif2b1	A	G	5: 124,714,971 (GRCm39)	S102P	probably damaging	Het
Erich3	T	A	3: 154,410,480 (GRCm39)	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,779,580 (GRCm39)	L261S	probably damaging	Het
Fat3	A	C	9: 15,908,883 (GRCm39)	V2373G	probably damaging	Het
Fcgbpl1	T	A	7: 27,850,147 (GRCm39)	C1198S	probably damaging	Het
Gadd45a	A	T	6: 67,013,873 (GRCm39)	L58Q	probably damaging	Het
Gask1b	G	A	3: 79,843,912 (GRCm39)	R377H	probably damaging	Het
Gipr	C	T	7: 18,896,601 (GRCm39)	R165H	probably damaging	Het
Gje1	C	T	10: 14,593,082 (GRCm39)	G45R	probably null	Het
Gldc	T	A	19: 30,111,132 (GRCm39)	N548I	possibly damaging	Het
Gm13035	A	G	4: 146,009,993 (GRCm39)		noncoding transcript	Het
Gm27013	T	A	6: 130,497,700 (GRCm39)		noncoding transcript	Het
Gm5436	A	T	12: 84,305,584 (GRCm39)		noncoding transcript	Het
Grik3	C	A	4: 125,584,969 (GRCm39)	N612K	probably damaging	Het
H2bc13	C	T	13: 21,900,234 (GRCm39)		probably benign	Het
Hfm1	C	A	5: 107,040,617 (GRCm39)	W716L	probably damaging	Het
Il5ra	T	C	6: 106,715,336 (GRCm39)	Y166C	probably damaging	Het
Iqcb1	A	G	16: 36,655,952 (GRCm39)	E113G	probably benign	Het
Kcnk10	A	T	12: 98,401,175 (GRCm39)	M486K	probably benign	Het
Kcnv2	A	G	19: 27,301,190 (GRCm39)	D347G	probably damaging	Het
Kif21b	C	A	1: 136,072,958 (GRCm39)	H119N	probably damaging	Het
Lamb1	C	T	12: 31,337,432 (GRCm39)	H388Y	probably damaging	Het
Leng9	T	C	7: 4,152,385 (GRCm39)	D97G	probably damaging	Het
Lmbr1	G	A	5: 29,492,424 (GRCm39)	T55I	probably damaging	Het
Lrp1	G	T	10: 127,419,805 (GRCm39)	R935S	probably damaging	Het
Lrp2	A	T	2: 69,299,755 (GRCm39)	V3099E	probably benign	Het
Lrrcc1	C	A	3: 14,627,571 (GRCm39)	D503E	probably benign	Het
Map1a	T	A	2: 121,132,567 (GRCm39)	S890T	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mybph	A	T	1: 134,126,233 (GRCm39)	E349V	probably damaging	Het
Myh7b	C	A	2: 155,475,909 (GRCm39)	L1935M	probably benign	Het
Myh9	T	C	15: 77,653,453 (GRCm39)	E1348G	probably damaging	Het
Myzap	A	G	9: 71,456,037 (GRCm39)	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,292,534 (GRCm39)	L1062P	probably damaging	Het
Nepro	G	A	16: 44,555,160 (GRCm39)	S412N	probably null	Het
Nr1h3	A	G	2: 91,020,563 (GRCm39)	F257L	probably benign	Het
Nudt5	T	C	2: 5,869,239 (GRCm39)	V155A	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or13a25	A	T	7: 140,247,502 (GRCm39)	I94F	probably damaging	Het
Or52d3	A	T	7: 104,229,422 (GRCm39)	I190L	probably benign	Het
Or6ae1	A	G	7: 139,742,602 (GRCm39)	L87P	possibly damaging	Het
Pde1a	T	A	2: 79,959,181 (GRCm39)		probably benign	Het
Pde4dip	T	A	3: 97,700,844 (GRCm39)	H220L	probably damaging	Het
Pde9a	T	A	17: 31,662,135 (GRCm39)		probably null	Het
Pnkp	C	A	7: 44,511,070 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,870,064 (GRCm39)	T15A	probably benign	Het
Polq	G	T	16: 36,869,145 (GRCm39)		probably null	Het
Ppfia2	C	T	10: 106,690,818 (GRCm39)	T553I	probably benign	Het
Ptk6	T	G	2: 180,838,784 (GRCm39)	N323T	possibly damaging	Het
Rhox3c	G	A	X: 36,652,077 (GRCm39)	A60T	probably damaging	Het
Rnf4	T	A	5: 34,506,053 (GRCm39)	V61E	probably damaging	Het
Rnf5	A	G	17: 34,820,977 (GRCm39)		probably benign	Het
Sardh	A	G	2: 27,081,967 (GRCm39)	V853A	probably benign	Het
Scfd1	T	C	12: 51,436,109 (GRCm39)	V86A	probably damaging	Het
Scube3	G	A	17: 28,383,097 (GRCm39)	C425Y	probably damaging	Het
Sema5a	C	T	15: 32,609,563 (GRCm39)	H490Y	probably benign	Het
Sfta2	T	C	17: 35,960,773 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,031,049 (GRCm39)	Y738H	probably damaging	Het
Shc2	T	C	10: 79,458,295 (GRCm39)	R463G	probably damaging	Het
Socs7	T	A	11: 97,267,829 (GRCm39)	I320N	possibly damaging	Het
Speer2	A	T	16: 69,654,988 (GRCm39)	M159K	probably benign	Het
Sppl2c	A	C	11: 104,078,478 (GRCm39)	H426P	probably benign	Het
Stag3	T	G	5: 138,307,627 (GRCm39)		probably null	Het
Stxbp5	C	A	10: 9,638,635 (GRCm39)	V1055L	probably benign	Het
Synpo	A	T	18: 60,736,684 (GRCm39)	S421T	probably damaging	Het
Taf6l	A	G	19: 8,759,770 (GRCm39)	V135A	possibly damaging	Het
Tas2r116	G	A	6: 132,832,660 (GRCm39)	S87N	probably benign	Het
Tomm6	T	C	17: 47,998,994 (GRCm39)		probably benign	Het
Trabd	T	C	15: 88,966,915 (GRCm39)	M113T	probably benign	Het
Trim58	G	A	11: 58,542,150 (GRCm39)	G370E	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Vit	T	C	17: 78,909,308 (GRCm39)	S252P	probably benign	Het
Vma21-ps	T	A	4: 52,496,943 (GRCm39)	D101V	probably damaging	Het
Vmn1r173	A	T	7: 23,402,361 (GRCm39)	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,529,336 (GRCm39)	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,582,246 (GRCm39)	N545S	probably damaging	Het
Zfp865	A	G	7: 5,034,640 (GRCm39)	Y875C	probably damaging	Het

Other mutations in Ctdp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ACTCCTCAGAACACTTTGCTGC -3'
(R):5'- AGTGTGCCCTCATCACATG -3'

Sequencing Primer
(F):5'- GCAAAATAATGTGTTTCTGTATGTGG -3'
(R):5'- CATCACATGCCCTCCTGAG -3'

Posted On

2016-03-01