Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02011:Ctdsp1'

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279272

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctdsp1

Ensembl Gene

ENSMUSG00000026176

Gene Name

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

Synonyms

SCP1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02011

Quality Score

Status

Chromosome

Chromosomal Location

74391509-74397285 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 74394016 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027367] [ENSMUST00000152659]

Predicted Effect

probably benign
Transcript: ENSMUST00000027367

SMART Domains

Protein: ENSMUSP00000027367
Gene: ENSMUSG00000026176

Domain	Start	End	E-Value	Type
CPDc	89	232	9.18e-77	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083534

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141175

Predicted Effect

probably benign
Transcript: ENSMUST00000152659

SMART Domains

Protein: ENSMUSP00000114526
Gene: ENSMUSG00000026176

Domain	Start	End	E-Value	Type
low complexity region	1	13	N/A	INTRINSIC
PDB:1T9Z\|A	83	131	2e-26	PDB
Blast:CPDc	96	131	2e-16	BLAST

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 member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5m1	T	A	14: 49,081,135		probably benign	Het
Arg1	T	C	10: 24,916,377	T215A	probably benign	Het
Arhgap15	A	T	2: 43,780,755	K50N	probably damaging	Het
Cwc22	A	T	2: 77,921,022	D363E	possibly damaging	Het
Drd2	G	T	9: 49,406,958	C400F	probably damaging	Het
Eef1akmt1	A	T	14: 57,558,098	Y65N	probably damaging	Het
Gbp10	C	A	5: 105,221,101	G291W	probably damaging	Het
Lrit1	T	A	14: 37,062,323	V536E	probably damaging	Het
Olfr1411	T	A	1: 92,596,899	Y127N	probably damaging	Het
Olfr464	C	A	11: 87,914,882	W8L	probably benign	Het
Olfr599	G	T	7: 103,338,849	R265L	probably damaging	Het
Pcdh12	C	T	18: 38,281,420	G884D	probably damaging	Het
Pih1d1	G	T	7: 45,156,732	A31S	probably damaging	Het
Plcxd2	T	C	16: 45,965,091	D317G	probably damaging	Het
Prkaca	T	C	8: 83,990,936	F231S	probably damaging	Het
Raet1d	T	A	10: 22,371,574	I183K	probably damaging	Het
Scaper	A	G	9: 55,580,322	F752S	probably damaging	Het
Shisa9	C	T	16: 12,244,638	T241I	possibly damaging	Het
Taar9	C	T	10: 24,108,579	R319H	possibly damaging	Het
Unkl	T	A	17: 25,218,591	V365E	probably damaging	Het
Usp34	C	T	11: 23,471,554	S3077F	probably damaging	Het
Vps16	A	G	2: 130,441,479	I566V	probably benign	Het
Vrk2	T	A	11: 26,471,717	T414S	probably benign	Het
Xpnpep1	A	T	19: 53,002,465		probably benign	Het
Zfp804a	A	G	2: 82,256,691	Q288R	probably damaging	Het

Other mutations in Ctdsp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01954:Ctdsp1	APN	1	74394083	unclassified	probably benign
IGL02014:Ctdsp1	APN	1	74394016	splice site	probably benign
IGL02205:Ctdsp1	APN	1	74393834	missense	possibly damaging	0.65
IGL03011:Ctdsp1	APN	1	74395447	unclassified	probably benign
R0811:Ctdsp1	UTSW	1	74394647	missense	probably damaging	1.00
R0812:Ctdsp1	UTSW	1	74394647	missense	probably damaging	1.00
R4725:Ctdsp1	UTSW	1	74394664	missense	possibly damaging	0.65
R5777:Ctdsp1	UTSW	1	74394068	missense	probably damaging	0.96
R7328:Ctdsp1	UTSW	1	74394040	missense	probably damaging	0.98

Posted On

2015-04-16