Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02580:Ctdp1'

299324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctdp1

Ensembl Gene

ENSMUSG00000033323

Gene Name

CTD phosphatase subunit 1

Synonyms

4930563P03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

IGL02580

Quality Score

Status

Chromosome

Chromosomal Location

80451174-80512910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80493305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 397 (S397C)

Ref Sequence

ENSEMBL: ENSMUSP00000038938 (fasta)

Gene Model

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

AlphaFold

Q7TSG2

Predicted Effect

probably benign
Transcript: ENSMUST00000036229
AA Change: S397C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000038938
Gene: ENSMUSG00000033323
AA Change: S397C

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

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	A	T	9: 104,204,147 (GRCm39)	I49N	probably damaging	Het
Aqp8	T	C	7: 123,065,953 (GRCm39)		probably benign	Het
Atrnl1	T	C	19: 57,703,008 (GRCm39)		probably benign	Het
Cdh1	A	G	8: 107,375,650 (GRCm39)	T63A	probably benign	Het
Cenpf	A	G	1: 189,389,638 (GRCm39)	L1398S	probably benign	Het
Cyp2c37	T	A	19: 39,982,942 (GRCm39)	V177D	probably damaging	Het
Elmo3	A	T	8: 106,035,126 (GRCm39)	D419V	probably damaging	Het
Fabp1	T	C	6: 71,180,128 (GRCm39)	S100P	probably damaging	Het
Hcfc2	A	T	10: 82,564,256 (GRCm39)	N485I	probably benign	Het
Igkv10-95	A	G	6: 68,657,636 (GRCm39)	T51A	probably benign	Het
Iqub	A	G	6: 24,501,398 (GRCm39)	I184T	probably benign	Het
Map2k6	G	A	11: 110,381,667 (GRCm39)	R71H	probably damaging	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Ncapg2	T	C	12: 116,384,309 (GRCm39)	S257P	probably damaging	Het
Nusap1	T	C	2: 119,479,371 (GRCm39)		probably benign	Het
Nwd2	A	G	5: 63,965,512 (GRCm39)	R1699G	probably damaging	Het
Olfm3	A	G	3: 114,916,157 (GRCm39)	N363S	probably damaging	Het
Or51g1	C	T	7: 102,633,909 (GRCm39)	S154N	probably damaging	Het
Or9m2	T	C	2: 87,820,857 (GRCm39)	V134A	probably benign	Het
Pirb	T	C	7: 3,717,205 (GRCm39)		probably null	Het
Plch2	G	A	4: 155,069,221 (GRCm39)	T1135I	probably benign	Het
Riox2	G	A	16: 59,306,936 (GRCm39)	V276I	probably benign	Het
Slc11a1	A	G	1: 74,419,418 (GRCm39)	D144G	probably damaging	Het
Usp40	C	A	1: 87,908,688 (GRCm39)		probably null	Het
Vars2	G	A	17: 35,971,777 (GRCm39)	A73V	possibly 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
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
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

Posted On

2015-04-16