Mutagenetix > Incidental Mutation

Incidental Mutation 'R9617:Ctdp1'

726558

Institutional Source

Beutler Lab

Gene Symbol

Ctdp1

Ensembl Gene

ENSMUSG00000033323

Gene Name

CTD phosphatase subunit 1

Synonyms

4930563P03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R9617 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80451174-80512910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80492962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 511 (I511N)

Ref Sequence

ENSEMBL: ENSMUSP00000038938 (fasta)

Gene Model

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

AlphaFold

Q7TSG2

Predicted Effect

probably benign
Transcript: ENSMUST00000036229
AA Change: I511N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038938
Gene: ENSMUSG00000033323
AA Change: I511N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	C	T	3: 68,777,402 (GRCm39)	P121L	probably damaging	Het
4930442H23Rik	C	T	10: 81,018,976 (GRCm39)	V16I	unknown	Het
4930444P10Rik	T	C	1: 16,139,051 (GRCm39)	M97V	probably benign	Het
Abcb1a	A	T	5: 8,797,353 (GRCm39)		probably null	Het
Abhd5	T	C	9: 122,197,035 (GRCm39)	I74T	probably benign	Het
Ankle2	T	A	5: 110,399,409 (GRCm39)	F590I	probably damaging	Het
C2cd6	T	C	1: 59,097,848 (GRCm39)	S414G	probably benign	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cep295nl	G	T	11: 118,224,000 (GRCm39)	H281Q	possibly damaging	Het
Cfap69	T	C	5: 5,639,164 (GRCm39)	E670G	probably damaging	Het
Cfh	A	T	1: 140,090,718 (GRCm39)	V90E	possibly damaging	Het
Cnksr3	A	C	10: 7,079,021 (GRCm39)		probably null	Het
Cntrl	T	A	2: 35,035,077 (GRCm39)	F901L	probably benign	Het
Coch	T	A	12: 51,645,034 (GRCm39)	M196K	probably damaging	Het
Crygd	T	C	1: 65,102,369 (GRCm39)	N34S	probably damaging	Het
Dhx30	C	T	9: 109,926,186 (GRCm39)	A142T	probably damaging	Het
Dlg2	T	C	7: 92,087,284 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 49,998,228 (GRCm39)	D776G	probably damaging	Het
Dnm3	C	T	1: 162,149,354 (GRCm39)	G197D	probably damaging	Het
Eif4g3	A	G	4: 137,824,190 (GRCm39)	H91R	probably damaging	Het
Ephb6	A	G	6: 41,596,258 (GRCm39)	M844V	probably damaging	Het
Erc1	T	C	6: 119,773,902 (GRCm39)	E351G	probably benign	Het
Etfbkmt	G	A	6: 149,045,744 (GRCm39)	G33R	probably benign	Het
Fnbp4	T	C	2: 90,588,738 (GRCm39)	I503T	probably benign	Het
Gm6370	A	T	5: 146,429,993 (GRCm39)	Q143L	probably benign	Het
Gnas	T	C	2: 174,141,988 (GRCm39)	V719A	possibly damaging	Het
H13	C	A	2: 152,530,873 (GRCm39)	D219E	probably damaging	Het
Hhatl	G	A	9: 121,618,191 (GRCm39)	T188I	possibly damaging	Het
Ifi27l2b	C	T	12: 103,422,683 (GRCm39)	A45T	probably damaging	Het
Kbtbd8	T	C	6: 95,103,874 (GRCm39)	C585R	possibly damaging	Het
Limk2	A	G	11: 3,297,715 (GRCm39)	S473P	probably damaging	Het
Lrba	G	A	3: 86,267,169 (GRCm39)	G1620S	probably benign	Het
Lrrtm2	T	C	18: 35,346,490 (GRCm39)	T271A	probably benign	Het
Map3k4	A	G	17: 12,476,871 (GRCm39)	S759P	possibly damaging	Het
Mybphl	G	T	3: 108,282,952 (GRCm39)	V247F	possibly damaging	Het
Myh10	T	A	11: 68,682,815 (GRCm39)	V1120D	probably benign	Het
Naip1	T	C	13: 100,569,821 (GRCm39)	N271S	probably benign	Het
Napepld	C	T	5: 21,875,561 (GRCm39)	V328I	probably damaging	Het
Nucb1	A	G	7: 45,148,159 (GRCm39)	V218A	probably benign	Het
Nup107	A	T	10: 117,593,238 (GRCm39)	D813E	probably benign	Het
Or14j3	T	A	17: 37,901,053 (GRCm39)	K64*	probably null	Het
Or5g29	T	A	2: 85,421,279 (GRCm39)	Y132N	probably damaging	Het
Or6c35	A	T	10: 129,168,794 (GRCm39)	T15S	probably damaging	Het
Or8g52	A	G	9: 39,630,678 (GRCm39)	S52G	possibly damaging	Het
Pabpc2	T	C	18: 39,907,602 (GRCm39)	I289T	probably benign	Het
Parg	A	G	14: 31,960,569 (GRCm39)	I600V	probably benign	Het
Patj	T	C	4: 98,393,991 (GRCm39)	F975L	probably benign	Het
Pcdhb17	A	G	18: 37,618,218 (GRCm39)	T3A	probably benign	Het
Piezo2	T	C	18: 63,248,108 (GRCm39)	E464G	probably benign	Het
Pkd1	T	A	17: 24,800,341 (GRCm39)	V3034D	probably damaging	Het
Pld2	A	G	11: 70,447,944 (GRCm39)	E869G	probably damaging	Het
Plek	T	A	11: 16,945,311 (GRCm39)	L29F	possibly damaging	Het
Prelp	A	G	1: 133,842,416 (GRCm39)	L243P	probably damaging	Het
Rapgef5	T	A	12: 117,621,930 (GRCm39)	D231E	probably benign	Het
Riok1	A	G	13: 38,244,016 (GRCm39)	E514G	probably benign	Het
Rmdn2	T	C	17: 79,928,790 (GRCm39)	M14T	probably benign	Het
Rorb	G	A	19: 18,939,499 (GRCm39)	Q228*	probably null	Het
Scmh1	T	A	4: 120,340,827 (GRCm39)	M171K	probably damaging	Het
Scn9a	A	G	2: 66,392,809 (GRCm39)	L261P	probably damaging	Het
Senp7	A	T	16: 55,971,652 (GRCm39)	N263I	probably benign	Het
Slc11a1	G	T	1: 74,419,041 (GRCm39)	A162S	probably benign	Het
Slc6a17	A	G	3: 107,384,685 (GRCm39)	V305A	probably damaging	Het
Snph	A	T	2: 151,435,422 (GRCm39)	V502E	probably damaging	Het
Sost	G	T	11: 101,854,892 (GRCm39)	A139E	possibly damaging	Het
Srp54a	A	T	12: 55,136,061 (GRCm39)	E25D	probably benign	Het
Tmeff1	T	A	4: 48,636,940 (GRCm39)	C213S	probably damaging	Het
Tmem232	A	T	17: 65,807,180 (GRCm39)	Y4*	probably null	Het
Tmem63c	T	G	12: 87,103,361 (GRCm39)	I45S	probably benign	Het
Ttbk1	C	T	17: 46,757,998 (GRCm39)	G879S	probably damaging	Het
Ugt1a7c	A	G	1: 88,022,952 (GRCm39)	H37R	probably damaging	Het
Vmn1r236	T	C	17: 21,507,053 (GRCm39)	L57P	probably damaging	Het
Wnk2	T	A	13: 49,192,453 (GRCm39)	E675V	unknown	Het
Wnt10b	T	C	15: 98,674,609 (GRCm39)	T43A	probably damaging	Het
Wnt8a	C	A	18: 34,680,163 (GRCm39)	T176K	probably benign	Het
Zfp937	T	A	2: 150,080,452 (GRCm39)	C161S	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
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
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'- CCTCGAGGTGTATCAAGTGG -3'
(R):5'- AGGATTTGGACTTTGACCTGTC -3'

Sequencing Primer
(F):5'- ATCAAGTGGTCATCGTCGTC -3'
(R):5'- GACTTTGACCTGTCCAGCGAC -3'

Posted On

2022-10-06