Mutagenetix > Incidental Mutation

Incidental Mutation 'R6300:Ctdp1'

509069

Institutional Source

Beutler Lab

Gene Symbol

Ctdp1

Ensembl Gene

ENSMUSG00000033323

Gene Name

CTD phosphatase subunit 1

Synonyms

4930563P03Rik

MMRRC Submission

044409-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R6300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80451174-80512910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80502455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 152 (M152L)

Ref Sequence

ENSEMBL: ENSMUSP00000038938 (fasta)

Gene Model

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

AlphaFold

Q7TSG2

Predicted Effect

probably benign
Transcript: ENSMUST00000036229
AA Change: M152L

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038938
Gene: ENSMUSG00000033323
AA Change: M152L

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

0.3163

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (72/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,642,885 (GRCm39)	T185A	possibly damaging	Het
4932414N04Rik	A	G	2: 68,561,453 (GRCm39)	Y260C	possibly damaging	Het
Adamtsl1	G	A	4: 86,166,254 (GRCm39)	G395S	probably damaging	Het
Amn	T	C	12: 111,240,623 (GRCm39)	L85P	probably benign	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apip	C	T	2: 102,917,498 (GRCm39)	R66C	possibly damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Apol6	A	T	15: 76,935,471 (GRCm39)	I247L	probably benign	Het
Arfgap2	A	G	2: 91,097,540 (GRCm39)	Q112R	probably benign	Het
Armh1	A	G	4: 117,088,979 (GRCm39)	Y139H	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cct2	C	T	10: 116,892,064 (GRCm39)	G328D	probably damaging	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cers5	G	T	15: 99,670,100 (GRCm39)	A54E	probably damaging	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Defb36	T	A	2: 152,454,418 (GRCm39)	W26R	probably damaging	Het
Dnah17	T	C	11: 117,925,136 (GRCm39)	E3899G	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Duox1	T	G	2: 122,168,181 (GRCm39)	L1102R	probably damaging	Het
Dzip3	A	G	16: 48,772,170 (GRCm39)	S500P	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Hoxd3	A	G	2: 74,574,420 (GRCm39)	Y22C	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il6ra	A	G	3: 89,794,436 (GRCm39)	V175A	probably damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Marchf10	T	C	11: 105,273,063 (GRCm39)	E692G	probably damaging	Het
Mars1	G	A	10: 127,132,429 (GRCm39)	T856M	probably benign	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pepd	G	A	7: 34,668,968 (GRCm39)	R196H	probably damaging	Het
Pla2g4e	A	T	2: 120,013,219 (GRCm39)	M367K	probably benign	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Serpina3k	A	T	12: 104,306,981 (GRCm39)	N71I	probably damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Smc4	T	C	3: 68,935,224 (GRCm39)	V771A	probably benign	Het
Snapc4	A	G	2: 26,268,563 (GRCm39)	S33P	probably benign	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tjp3	T	A	10: 81,116,951 (GRCm39)	R193*	probably null	Het
Tm7sf2	A	T	19: 6,117,230 (GRCm39)	W58R	probably damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Utrn	T	A	10: 12,377,220 (GRCm39)	Y2612F	probably benign	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp382	G	A	7: 29,831,054 (GRCm39)		probably null	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	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
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'- AACTAAGAGCTGTGGGGCTTC -3'
(R):5'- AGACAGCATTCACGTAGCTGTC -3'

Sequencing Primer
(F):5'- TTCCAAGCATCCATGGAGAG -3'
(R):5'- AGCATTCACGTAGCTGTCTGTAC -3'

Posted On

2018-04-02