Incidental Mutation 'IGL00971:Ntpcr'
ID28079
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntpcr
Ensembl Gene ENSMUSG00000031851
Gene Namenucleoside-triphosphatase, cancer-related
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.101) question?
Stock #IGL00971
Quality Score
Status
Chromosome8
Chromosomal Location125729963-125748235 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 125747762 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
AAA 1 170 2.61e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047239
SMART Domains Protein: ENSMUSP00000042294
Gene: ENSMUSG00000060212

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2013-04-17