Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01695:Ctdp1'

104231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctdp1

Ensembl Gene

ENSMUSG00000033323

Gene Name

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1

Synonyms

4930563P03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.913) question?

Stock #

IGL01695

Quality Score

Status

Chromosome

Chromosomal Location

80407959-80469695 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80449626 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 551 (S551R)

Ref Sequence

ENSEMBL: ENSMUSP00000038938 (fasta)

Gene Model

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

AlphaFold

Q7TSG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000036229
AA Change: S551R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038938
Gene: ENSMUSG00000033323
AA Change: S551R

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,265,193	V177A	probably benign	Het
Ap3b2	T	A	7: 81,476,939		probably benign	Het
Arfgef3	T	C	10: 18,603,419	T1483A	probably benign	Het
Arl5a	A	T	2: 52,412,105	I99N	probably damaging	Het
Bahcc1	G	A	11: 120,276,609	G1279R	probably benign	Het
Bbs5	A	G	2: 69,649,090	N43S	probably damaging	Het
Cdh23	C	T	10: 60,331,833	V1795M	probably benign	Het
Cep350	T	C	1: 155,944,158	E353G	probably damaging	Het
Cps1	A	T	1: 67,197,035	I976L	probably benign	Het
Cyp2b19	C	T	7: 26,759,064	T68I	probably damaging	Het
Esr2	A	G	12: 76,145,319	S312P	probably damaging	Het
Fam26e	A	G	10: 34,092,202	V285A	possibly damaging	Het
Gm11639	A	T	11: 104,736,063	E864D	probably damaging	Het
Gm6408	A	G	5: 146,482,129		probably benign	Het
Krt9	A	T	11: 100,191,437		probably null	Het
Myh6	T	C	14: 54,957,413	T662A	probably benign	Het
Ntn1	T	C	11: 68,226,604	D473G	probably benign	Het
Olfr576	T	C	7: 102,965,583	F161S	probably damaging	Het
Piezo1	A	T	8: 122,495,509	C961S	possibly damaging	Het
Pik3c2a	T	C	7: 116,417,518	T335A	possibly damaging	Het
Plaa	A	T	4: 94,574,037	Y140*	probably null	Het
Plxnb2	T	C	15: 89,157,214	I1749V	possibly damaging	Het
Ppp1r9a	T	A	6: 5,064,003	N555K	probably damaging	Het
Ptprn2	T	A	12: 116,841,388	H174Q	probably benign	Het
Reln	G	A	5: 21,920,438	T2749M	probably damaging	Het
Scarf1	A	G	11: 75,521,957	N384S	probably damaging	Het
Scrt1	T	A	15: 76,518,950	H280L	unknown	Het
Serpina1f	C	A	12: 103,693,684	C113F	probably damaging	Het
Setdb2	A	T	14: 59,402,293		probably benign	Het
Strc	A	G	2: 121,375,298	L830P	probably damaging	Het
Tifab	T	C	13: 56,176,385	S82G	probably benign	Het
Tmem217	T	A	17: 29,526,348	H136L	probably damaging	Het
Trio	T	C	15: 27,773,001	E715G	probably damaging	Het
Ttn	A	T	2: 76,944,016	M2182K	probably damaging	Het
Ube2d1	T	C	10: 71,262,252	D12G	probably damaging	Het
Utrn	T	C	10: 12,745,342	D195G	probably benign	Het

Other mutations in Ctdp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Ctdp1	APN	18	80458692	splice site	probably null
IGL01865:Ctdp1	APN	18	80455984	missense	probably damaging	1.00
IGL02009:Ctdp1	APN	18	80455972	missense	probably damaging	1.00
IGL02419:Ctdp1	APN	18	80420584	missense	probably damaging	1.00
IGL02580:Ctdp1	APN	18	80450090	missense	probably benign	0.01
IGL02699:Ctdp1	APN	18	80450185	missense	probably benign
IGL03117:Ctdp1	APN	18	80449501	missense	probably damaging	0.98
IGL03301:Ctdp1	APN	18	80449634	nonsense	probably null
IGL03385:Ctdp1	APN	18	80449918	missense	probably damaging	1.00
R0370:Ctdp1	UTSW	18	80449354	missense	probably damaging	1.00
R0374:Ctdp1	UTSW	18	80447422	critical splice donor site	probably null
R0730:Ctdp1	UTSW	18	80450242	missense	probably benign	0.00
R0894:Ctdp1	UTSW	18	80469521	missense	probably benign	0.09
R1187:Ctdp1	UTSW	18	80449487	missense	probably damaging	1.00
R1437:Ctdp1	UTSW	18	80450213	missense	probably benign	0.01
R1988:Ctdp1	UTSW	18	80449401	missense	possibly damaging	0.89
R2192:Ctdp1	UTSW	18	80449481	missense	probably benign	0.30
R3709:Ctdp1	UTSW	18	80450213	nonsense	probably null
R3724:Ctdp1	UTSW	18	80459267	missense	probably benign	0.16
R3756:Ctdp1	UTSW	18	80452351	missense	probably damaging	0.98
R4297:Ctdp1	UTSW	18	80449957	missense	probably benign
R4298:Ctdp1	UTSW	18	80449957	missense	probably benign
R4640:Ctdp1	UTSW	18	80451154	critical splice donor site	probably null
R4841:Ctdp1	UTSW	18	80408726	missense	unknown
R4842:Ctdp1	UTSW	18	80408726	missense	unknown
R5007:Ctdp1	UTSW	18	80420480	missense	probably damaging	0.99
R5055:Ctdp1	UTSW	18	80456088	missense	probably damaging	1.00
R5219:Ctdp1	UTSW	18	80447460	missense	probably damaging	1.00
R5870:Ctdp1	UTSW	18	80408686	missense	unknown
R5896:Ctdp1	UTSW	18	80458788	missense	probably damaging	1.00
R6242:Ctdp1	UTSW	18	80459212	missense	probably damaging	1.00
R6255:Ctdp1	UTSW	18	80459297	critical splice acceptor site	probably null
R6300:Ctdp1	UTSW	18	80459240	missense	probably benign	0.26
R6431:Ctdp1	UTSW	18	80451255	missense	probably damaging	0.96
R6462:Ctdp1	UTSW	18	80420474	missense	probably damaging	0.98
R6512:Ctdp1	UTSW	18	80451263	missense	probably damaging	1.00
R6537:Ctdp1	UTSW	18	80449551	missense	probably benign
R6802:Ctdp1	UTSW	18	80420441	critical splice donor site	probably null
R7477:Ctdp1	UTSW	18	80440714	splice site	probably null
R8121:Ctdp1	UTSW	18	80456008	missense	probably damaging	1.00
R8348:Ctdp1	UTSW	18	80450110	missense	probably benign	0.00
R8350:Ctdp1	UTSW	18	80469279	missense	probably benign	0.03
R8513:Ctdp1	UTSW	18	80449463	missense	possibly damaging	0.49
R9140:Ctdp1	UTSW	18	80440828	critical splice donor site	probably null
R9339:Ctdp1	UTSW	18	80449474	missense	probably damaging	1.00
R9617:Ctdp1	UTSW	18	80449747	missense	probably benign
R9758:Ctdp1	UTSW	18	80449495	missense	probably damaging	1.00
R9762:Ctdp1	UTSW	18	80449335	nonsense	probably null
X0020:Ctdp1	UTSW	18	80449990	missense	probably benign	0.01

Posted On

2014-01-21