Mutagenetix > Incidental Mutations

Incidental Mutation 'R3838:Ntpcr'

276995

Institutional Source

Beutler Lab

Gene Symbol

Ntpcr

Ensembl Gene

ENSMUSG00000031851

Gene Name

nucleoside-triphosphatase, cancer-related

Synonyms

MMRRC Submission

040779-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R3838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125729963-125748235 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125737372 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 79 (V79M)

Ref Sequence

ENSEMBL: ENSMUSP00000115996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034313] [ENSMUST00000065135] [ENSMUST00000143504] [ENSMUST00000152189]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034313
AA Change: V83M

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

SMART Domains

Protein: ENSMUSP00000034313
Gene: ENSMUSG00000031851
AA Change: V83M

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000065135
AA Change: V83M

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

SMART Domains

Protein: ENSMUSP00000069384
Gene: ENSMUSG00000031851
AA Change: V83M

Domain	Start	End	E-Value	Type
Pfam:NTPase_1	4	107	1.4e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123554

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

noncoding transcript
Transcript: ENSMUST00000151172

Predicted Effect

probably damaging
Transcript: ENSMUST00000152189
AA Change: V79M

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

SMART Domains

Protein: ENSMUSP00000115996
Gene: ENSMUSG00000031851
AA Change: V79M

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	A	G	4: 116,173,521	T41A	probably benign	Het
4930486L24Rik	A	G	13: 60,845,227	Y213H	probably damaging	Het
Alg8	C	T	7: 97,388,545	H379Y	probably damaging	Het
Arhgef25	T	C	10: 127,189,736	T12A	probably benign	Het
Arid4a	A	G	12: 71,075,785	E980G	possibly damaging	Het
Aspm	C	T	1: 139,478,054	H1560Y	probably benign	Het
Atg10	A	T	13: 90,937,380	I150K	probably damaging	Het
Bud13	A	C	9: 46,290,192	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,879,939	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,638,333	E476G	probably damaging	Het
Col2a1	T	C	15: 97,988,976	D345G	unknown	Het
Col2a1	A	T	15: 98,000,581		probably benign	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,241,480		probably null	Het
Dock4	G	T	12: 40,794,624		probably null	Het
Epx	A	T	11: 87,874,830	L101Q	probably damaging	Het
F13a1	A	T	13: 37,047,424	N21K	probably damaging	Het
Fam13c	C	T	10: 70,542,648	S336L	probably damaging	Het
Fam35a	T	C	14: 34,245,368	D77G	probably benign	Het
Foxj3	T	A	4: 119,616,624	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 96,947,014	R273*	probably null	Het
Gpam	T	C	19: 55,080,458	N450S	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmcn2	T	C	2: 31,413,407	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,659,089	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,271,658	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,363,545	C139R	possibly damaging	Het
Lsamp	A	T	16: 42,134,312	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,718,381	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msn	C	A	X: 96,160,199	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,632,989	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,495,322		probably null	Het
Nme2	T	A	11: 93,949,977	E252D	probably benign	Het
Ogdh	C	T	11: 6,338,627	R235*	probably null	Het
Olfr1490	A	G	19: 13,654,957	D176G	probably benign	Het
Olfr825	C	A	10: 130,162,406	E307*	probably null	Het
Olfr959	A	G	9: 39,572,971	V96A	probably benign	Het
Pcdh20	T	C	14: 88,468,463	N467S	probably benign	Het
Pkhd1	G	A	1: 20,534,629	T1154I	possibly damaging	Het
Polq	G	T	16: 37,078,349	R2157I	probably damaging	Het
Reep6	C	A	10: 80,335,889	A533E	probably damaging	Het
Senp2	T	C	16: 22,009,735	S32P	probably damaging	Het
Sept11	T	A	5: 93,148,399	I52N	probably damaging	Het
Slc17a4	C	T	13: 23,901,769	R387H	probably benign	Het
Spdye4b	C	T	5: 143,192,329	T11I	probably benign	Het
Srrt	C	T	5: 137,302,125		probably null	Het
Sspo	T	A	6: 48,480,820	C3085S	probably damaging	Het
Stim1	C	T	7: 102,411,296	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,687,851	V217L	probably benign	Het
Thpo	G	A	16: 20,728,748	R38C	probably damaging	Het
Tmem210	A	G	2: 25,288,432	E35G	possibly damaging	Het
Trim12c	T	A	7: 104,340,868		probably benign	Het
Tvp23b	A	G	11: 62,883,629	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532		probably null	Het
Vmn2r73	A	G	7: 85,858,050	W685R	probably benign	Het
Zfp618	G	A	4: 63,133,564	A861T	probably benign	Het
Zfp715	A	G	7: 43,299,756	V260A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AACCACAGTGAGTCCAACCTTG -3'
(R):5'- ATTGGACTGCCTATCCTTAGC -3'

Sequencing Primer
(F):5'- AGTGAGTCCAACCTTGTACACTC -3'
(R):5'- CCTTAGCAAGGTTCAGTGGC -3'

Posted On

2015-04-06