Mutagenetix > Incidental Mutation

Incidental Mutation 'R0374:Ctdp1'

38550

Institutional Source

Beutler Lab

Gene Symbol

Ctdp1

Ensembl Gene

ENSMUSG00000033323

Gene Name

CTD phosphatase subunit 1

Synonyms

4930563P03Rik

MMRRC Submission

038580-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R0374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80451174-80512910 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 80490637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038938 (fasta)

Gene Model

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

AlphaFold

Q7TSG2

Predicted Effect

probably null
Transcript: ENSMUST00000036229

SMART Domains

Protein: ENSMUSP00000038938
Gene: ENSMUSG00000033323

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

Meta Mutation Damage Score

0.9495

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	A	G	7: 140,687,727 (GRCm39)	I267T	probably damaging	Het
Anxa6	T	A	11: 54,896,654 (GRCm39)	N168I	probably benign	Het
Apbb1ip	A	G	2: 22,709,717 (GRCm39)		probably benign	Het
Aqr	G	A	2: 113,961,092 (GRCm39)	H723Y	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Car13	A	G	3: 14,721,357 (GRCm39)		probably benign	Het
Casp9	T	A	4: 141,534,484 (GRCm39)	I298N	possibly damaging	Het
Ccdc66	T	C	14: 27,220,430 (GRCm39)	E261G	probably damaging	Het
Cep192	T	A	18: 67,951,954 (GRCm39)	Y376*	probably null	Het
Cped1	T	A	6: 22,222,545 (GRCm39)		probably benign	Het
Ctbp2	A	T	7: 132,601,073 (GRCm39)	S563R	possibly damaging	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Drd2	A	G	9: 49,311,084 (GRCm39)	T112A	probably benign	Het
Dusp1	A	G	17: 26,727,143 (GRCm39)	V52A	probably damaging	Het
Eea1	T	A	10: 95,875,634 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,288 (GRCm39)	V86A	probably benign	Het
Fbn1	A	T	2: 125,163,596 (GRCm39)	C2087S	possibly damaging	Het
Fosb	T	G	7: 19,041,075 (GRCm39)	R139S	probably damaging	Het
Foxm1	C	T	6: 128,349,566 (GRCm39)	R362W	probably damaging	Het
Frem2	A	G	3: 53,561,381 (GRCm39)	V1042A	probably damaging	Het
Gbe1	A	G	16: 70,280,802 (GRCm39)	H401R	probably benign	Het
Gm10549	C	T	18: 33,597,235 (GRCm39)		probably benign	Het
Golga7b	A	T	19: 42,251,758 (GRCm39)		probably benign	Het
H2-DMb1	T	C	17: 34,378,399 (GRCm39)	V235A	probably benign	Het
Hr	A	G	14: 70,793,916 (GRCm39)	T59A	probably benign	Het
Itpr2	C	A	6: 146,260,890 (GRCm39)	A588S	probably benign	Het
Kmt2c	G	A	5: 25,514,706 (GRCm39)	P3046S	probably damaging	Het
Lamc1	G	A	1: 153,126,811 (GRCm39)		probably benign	Het
Lrp2	A	G	2: 69,260,651 (GRCm39)	Y4527H	probably damaging	Het
Map3k2	G	A	18: 32,345,226 (GRCm39)		probably null	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Nfs1	C	G	2: 155,974,580 (GRCm39)	G212R	probably damaging	Het
Nol8	C	T	13: 49,815,923 (GRCm39)	A677V	possibly damaging	Het
Nrap	T	A	19: 56,340,054 (GRCm39)	Y740F	probably damaging	Het
Nup205	T	A	6: 35,185,772 (GRCm39)	M859K	probably damaging	Het
Nxf1	T	C	19: 8,745,103 (GRCm39)	F451S	possibly damaging	Het
Or5an1c	A	T	19: 12,218,505 (GRCm39)	N173K	probably damaging	Het
Or6c6c	G	A	10: 129,541,516 (GRCm39)	M256I	probably benign	Het
Pcdhac2	T	C	18: 37,278,720 (GRCm39)	Y567H	probably damaging	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pi4ka	A	G	16: 17,100,796 (GRCm39)		probably benign	Het
Pmpcb	A	G	5: 21,953,829 (GRCm39)	D359G	probably damaging	Het
Poll	T	G	19: 45,546,309 (GRCm39)	S244R	probably benign	Het
Prkd3	T	C	17: 79,264,644 (GRCm39)	D657G	probably null	Het
Prune2	G	A	19: 17,098,274 (GRCm39)	M1259I	probably benign	Het
Ptpra	T	A	2: 130,379,541 (GRCm39)	M329K	probably damaging	Het
Rbm10	GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG	X: 20,503,798 (GRCm39)		probably benign	Het
Rbm15	G	T	3: 107,237,880 (GRCm39)	D839E	probably damaging	Het
Sap30bp	T	A	11: 115,855,103 (GRCm39)	I271N	probably damaging	Het
Scart2	T	A	7: 139,828,874 (GRCm39)	C178S	probably damaging	Het
Scn3a	A	T	2: 65,338,918 (GRCm39)	V587E	probably damaging	Het
Setdb1	A	T	3: 95,232,164 (GRCm39)		probably benign	Het
Sgk3	T	A	1: 9,949,306 (GRCm39)		probably null	Het
Shox2	A	T	3: 66,881,184 (GRCm39)	H265Q	probably damaging	Het
Slc9a2	T	C	1: 40,783,017 (GRCm39)	F427S	possibly damaging	Het
Smarca5	T	A	8: 81,463,360 (GRCm39)	Q69H	probably benign	Het
Specc1l	T	A	10: 75,084,293 (GRCm39)	F672Y	probably damaging	Het
Ssh2	T	A	11: 77,298,969 (GRCm39)	S105R	probably damaging	Het
Syne2	C	T	12: 75,968,000 (GRCm39)	R917*	probably null	Het
Tbc1d2	G	A	4: 46,649,913 (GRCm39)	T41M	possibly damaging	Het
Tbx18	T	A	9: 87,606,408 (GRCm39)	I246F	probably damaging	Het
Tcf4	T	A	18: 69,814,883 (GRCm39)		probably benign	Het
Tmed2	C	A	5: 124,679,502 (GRCm39)		probably null	Het
Tmem243	A	T	5: 9,151,361 (GRCm39)	D15V	possibly damaging	Het
Vmn2r87	T	A	10: 130,307,848 (GRCm39)	S797C	probably damaging	Het
Vps13c	T	A	9: 67,793,528 (GRCm39)		probably benign	Het
Wls	T	A	3: 159,603,074 (GRCm39)	C162*	probably null	Het
Zbtb7c	C	T	18: 76,270,464 (GRCm39)	T184I	probably benign	Het
Zc3h13	A	G	14: 75,546,405 (GRCm39)	K169E	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
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

Predicted Primers

PCR Primer
(F):5'- CCTCAGCAATTAAGGCTCTCAGCAC -3'
(R):5'- ACAAGAGGTTCTGTCCTCAGTGGTG -3'

Sequencing Primer
(F):5'- AGTTATCCTCCTGAAAGCACTG -3'
(R):5'- CATGCAGCTCTATCCTAAGAGG -3'

Posted On

2013-05-23