Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02045:Ntpcr'

184927

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ntpcr

Ensembl Gene

ENSMUSG00000031851

Gene Name

nucleoside-triphosphatase, cancer-related

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL02045

Quality Score

Status

Chromosome

Chromosomal Location

125729963-125748235 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 125745452 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034313] [ENSMUST00000143504] [ENSMUST00000152189]

Predicted Effect

probably benign
Transcript: ENSMUST00000034313

SMART Domains

Protein: ENSMUSP00000034313
Gene: ENSMUSG00000031851

Domain	Start	End	E-Value	Type
AAA	1	170	2.61e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138656

Predicted Effect

probably benign
Transcript: ENSMUST00000143504

SMART Domains

Protein: ENSMUSP00000121271
Gene: ENSMUSG00000031851

Domain	Start	End	E-Value	Type
Pfam:NTPase_1	56	145	5.4e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146055

Predicted Effect

probably benign
Transcript: ENSMUST00000152189

SMART Domains

Protein: ENSMUSP00000115996
Gene: ENSMUSG00000031851

Domain	Start	End	E-Value	Type
Pfam:NTPase_1	6	178	3.2e-63	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a non-specific nucleoside triphosphatase that is slow-acting in vitro. This gene is overexpressed in many tumor tissues, and while it is not essential for the cell, overexpression is cytotoxic. However, the cytotoxicity is not related to its triphosphatase activity. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	A	5: 114,240,660	H2044Q	possibly damaging	Het
Ankrd12	A	T	17: 65,986,249	S730T	probably benign	Het
Ano9	A	T	7: 141,102,469	N655K	probably benign	Het
Ap1ar	A	T	3: 127,815,649	Y108N	probably damaging	Het
Asap3	A	G	4: 136,227,441	I55V	probably benign	Het
Barx2	T	C	9: 31,858,798	T145A	probably damaging	Het
Camta1	T	C	4: 151,073,985		probably null	Het
Ces2e	C	T	8: 104,930,658		probably benign	Het
Cflar	T	C	1: 58,752,744	I405T	probably benign	Het
Cyp51	A	G	5: 4,083,247	S464P	probably damaging	Het
Ermard	G	A	17: 15,051,564		probably benign	Het
Fam92b	T	A	8: 120,169,722	K174*	probably null	Het
Glb1l2	T	C	9: 26,796,545	T49A	probably benign	Het
Gls	A	G	1: 52,219,515	V198A	probably benign	Het
Heatr5b	A	T	17: 78,808,426	I867N	probably damaging	Het
Ighv1-14	A	T	12: 114,646,714		noncoding transcript	Het
Iqsec1	T	C	6: 90,664,069	K1022E	probably damaging	Het
Myo10	A	G	15: 25,726,488	T299A	probably benign	Het
Nr2e3	A	T	9: 59,949,008	M82K	probably benign	Het
Olfr1424	T	C	19: 12,058,889	T288A	possibly damaging	Het
Olfr385	A	G	11: 73,589,232	C169R	probably damaging	Het
Olfr508	A	G	7: 108,630,532	D180G	probably damaging	Het
Olfr605	A	G	7: 103,442,952	L57P	probably damaging	Het
Olfr814	A	T	10: 129,874,222	D178E	probably benign	Het
Prkcb	A	G	7: 122,590,167	D506G	probably damaging	Het
Rasgef1a	A	G	6: 118,089,443	I470V	probably benign	Het
Rbm27	A	G	18: 42,319,913	E514G	possibly damaging	Het
Rgs22	G	A	15: 36,013,154	A1048V	probably benign	Het
Secisbp2l	A	G	2: 125,775,578	F60L	possibly damaging	Het
Six4	T	C	12: 73,108,655	S505G	probably benign	Het
Skint1	T	A	4: 112,025,530	V257E	possibly damaging	Het
Smad9	A	G	3: 54,786,172	N174S	possibly damaging	Het
Smc2	A	G	4: 52,462,914	N635D	probably benign	Het
Stradb	T	A	1: 58,989,778	I135N	probably damaging	Het
Syt12	T	C	19: 4,447,734	T407A	probably damaging	Het
Tmc8	T	A	11: 117,786,520	I322N	probably damaging	Het
Tnip1	A	C	11: 54,911,539	*648G	probably null	Het
Ttc3	T	C	16: 94,409,681		probably benign	Het

Other mutations in Ntpcr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Ntpcr	APN	8	125747762	missense	probably damaging	0.98
IGL01582:Ntpcr	APN	8	125745242	missense	probably benign	0.11
IGL01862:Ntpcr	APN	8	125736098	missense	probably benign	0.14
IGL02077:Ntpcr	APN	8	125737368	nonsense	probably null
R0491:Ntpcr	UTSW	8	125737354	nonsense	probably null
R0988:Ntpcr	UTSW	8	125737431	splice site	probably benign
R1781:Ntpcr	UTSW	8	125745402	missense	probably damaging	1.00
R2412:Ntpcr	UTSW	8	125745405	missense	probably damaging	1.00
R3838:Ntpcr	UTSW	8	125737372	missense	probably damaging	1.00
R4453:Ntpcr	UTSW	8	125736190	missense	probably benign	0.14
R6126:Ntpcr	UTSW	8	125735887	critical splice donor site	probably null
R6440:Ntpcr	UTSW	8	125745242	missense	probably damaging	0.97
R6463:Ntpcr	UTSW	8	125736104	missense	probably benign	0.02
R7102:Ntpcr	UTSW	8	125730055	missense	unknown
R7910:Ntpcr	UTSW	8	125747744	missense	probably benign
R8230:Ntpcr	UTSW	8	125737420	critical splice donor site	probably null
X0024:Ntpcr	UTSW	8	125745426	missense	probably damaging	0.99
X0025:Ntpcr	UTSW	8	125745315	missense	probably damaging	1.00
Z1177:Ntpcr	UTSW	8	125745284	frame shift	probably null

Posted On

2014-05-07