Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00971:Ntpcr'

28079

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: 0.101) question?

Stock #

IGL00971

Quality Score

Status

Chromosome

Chromosomal Location

125729963-125748235 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125747762 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 153 (T153M)

Ref Sequence

ENSEMBL: ENSMUSP00000121271 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034313] [ENSMUST00000047239] [ENSMUST00000143504] [ENSMUST00000152189]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034313
AA Change: T190M

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034313
Gene: ENSMUSG00000031851
AA Change: T190M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000047239

SMART Domains

Protein: ENSMUSP00000042294
Gene: ENSMUSG00000060212

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	N/A	INTRINSIC
transmembrane domain	60	82	N/A	INTRINSIC
low complexity region	94	104	N/A	INTRINSIC
low complexity region	391	415	N/A	INTRINSIC
low complexity region	457	476	N/A	INTRINSIC
low complexity region	727	742	N/A	INTRINSIC
low complexity region	806	817	N/A	INTRINSIC
transmembrane domain	823	842	N/A	INTRINSIC
transmembrane domain	849	866	N/A	INTRINSIC
transmembrane domain	881	902	N/A	INTRINSIC
transmembrane domain	934	956	N/A	INTRINSIC
transmembrane domain	976	998	N/A	INTRINSIC
transmembrane domain	1011	1030	N/A	INTRINSIC
transmembrane domain	1080	1102	N/A	INTRINSIC
transmembrane domain	1104	1126	N/A	INTRINSIC
Pfam:Pecanex_C	1603	1828	3.5e-113	PFAM
low complexity region	1864	1889	N/A	INTRINSIC
low complexity region	1968	1981	N/A	INTRINSIC
low complexity region	2004	2019	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119305

SMART Domains

Protein: ENSMUSP00000113149
Gene: ENSMUSG00000060212

Domain	Start	End	E-Value	Type
Pfam:Pecanex_C	157	386	1.8e-122	PFAM
low complexity region	421	446	N/A	INTRINSIC
low complexity region	525	538	N/A	INTRINSIC
low complexity region	561	576	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120589

SMART Domains

Protein: ENSMUSP00000113111
Gene: ENSMUSG00000060212

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Pecanex_C	533	762	4e-122	PFAM
low complexity region	797	822	N/A	INTRINSIC
low complexity region	901	914	N/A	INTRINSIC
low complexity region	937	952	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138656

Predicted Effect

probably damaging
Transcript: ENSMUST00000143504
AA Change: T153M

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121271
Gene: ENSMUSG00000031851
AA Change: T153M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146055

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152189
AA Change: T186M

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115996
Gene: ENSMUSG00000031851
AA Change: T186M

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	C	T	14: 35,810,213	C135Y	possibly damaging	Het
Afdn	T	A	17: 13,852,313		probably benign	Het
Akap10	A	G	11: 61,904,796	V347A	possibly damaging	Het
Ankrd11	A	G	8: 122,895,353	S587P	probably damaging	Het
Ces1g	T	C	8: 93,303,032	Y524C	probably damaging	Het
Cubn	T	C	2: 13,278,408	N3573S	possibly damaging	Het
Cyp1a1	G	T	9: 57,700,707	C206F	probably damaging	Het
Fam166b	A	G	4: 43,428,377	L51P	probably damaging	Het
Fbxo30	T	C	10: 11,290,298	Y255H	probably benign	Het
Ggnbp2	T	C	11: 84,840,404	I295V	possibly damaging	Het
Gm8979	G	A	7: 106,081,801		noncoding transcript	Het
Gpatch8	A	G	11: 102,479,917	Y932H	unknown	Het
Heatr6	C	T	11: 83,759,309	P197L	probably damaging	Het
Helb	T	C	10: 120,094,263	D737G	possibly damaging	Het
Helz	A	T	11: 107,663,653	I1226F	possibly damaging	Het
Ipo11	A	T	13: 106,856,769	I749N	probably damaging	Het
Ipo13	T	C	4: 117,914,367	E2G	possibly damaging	Het
Jam3	A	C	9: 27,101,892	D127E	probably damaging	Het
Kif16b	G	T	2: 142,711,744	Q1045K	probably benign	Het
Kin	T	C	2: 10,090,348	W121R	possibly damaging	Het
Man1b1	T	G	2: 25,343,325	S237A	possibly damaging	Het
Mmel1	C	T	4: 154,887,832		probably benign	Het
Morn4	T	C	19: 42,076,120	N143S	possibly damaging	Het
Nlrp4b	A	G	7: 10,714,955	T362A	possibly damaging	Het
Olfr62	T	A	4: 118,666,278	F254I	probably damaging	Het
Pdzd2	A	G	15: 12,374,718	L1777P	probably benign	Het
Postn	A	G	3: 54,369,276	N192S	possibly damaging	Het
Prkar1a	A	T	11: 109,661,051	Y122F	probably benign	Het
Serpinb7	A	G	1: 107,428,246		probably benign	Het
Setd3	A	T	12: 108,160,237	I121N	probably damaging	Het
Slamf7	T	A	1: 171,639,242	I132L	probably benign	Het
Syt4	T	C	18: 31,447,174		probably benign	Het
Tesc	G	A	5: 118,056,439		probably null	Het
Tsc1	C	A	2: 28,670,940	S270*	probably null	Het
Wap	C	A	11: 6,636,808	C97F	probably damaging	Het
Zfp451	A	G	1: 33,783,153	S155P	probably benign	Het
Zfp469	A	G	8: 122,269,733		probably benign	Het
Zfp51	C	T	17: 21,463,582	T153M	probably benign	Het
Zfp579	A	G	7: 4,993,391	I507T	probably damaging	Het

Other mutations in Ntpcr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01582:Ntpcr	APN	8	125745242	missense	probably benign	0.11
IGL01862:Ntpcr	APN	8	125736098	missense	probably benign	0.14
IGL02045:Ntpcr	APN	8	125745452	splice site	probably benign
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

2013-04-17