Incidental Mutation 'R0988:Ntpcr'
| ID |
97389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntpcr
|
| Ensembl Gene |
ENSMUSG00000031851 |
| Gene Name |
nucleoside-triphosphatase, cancer-related |
| Synonyms |
2310079N02Rik |
| MMRRC Submission |
039108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R0988 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
126456724-126474974 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 126464170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034313]
[ENSMUST00000065135]
[ENSMUST00000143504]
[ENSMUST00000152189]
|
| AlphaFold |
Q9CQA9 |
| 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 |
probably benign
Transcript: ENSMUST00000065135
|
| SMART Domains |
Protein: ENSMUSP00000069384
Gene: ENSMUSG00000031851
| 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 benign
Transcript: ENSMUST00000152189
|
| SMART Domains |
Protein: ENSMUSP00000115996
Gene: ENSMUSG00000031851
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTPase_1
|
6 |
178 |
3.2e-63 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
97% (34/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,896,310 (GRCm39) |
I340V |
probably benign |
Het |
| Ano1 |
T |
G |
7: 144,187,390 (GRCm39) |
S459R |
possibly damaging |
Het |
| Cop1 |
T |
C |
1: 159,060,417 (GRCm39) |
V67A |
possibly damaging |
Het |
| Cop1 |
A |
G |
1: 159,072,242 (GRCm39) |
Y186C |
probably damaging |
Het |
| Cst11 |
G |
A |
2: 148,612,346 (GRCm39) |
T97I |
probably benign |
Het |
| Ephb2 |
T |
A |
4: 136,387,019 (GRCm39) |
Y736F |
possibly damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,225,463 (GRCm39) |
I124T |
probably damaging |
Het |
| Hpn |
T |
C |
7: 30,799,323 (GRCm39) |
Y271C |
possibly damaging |
Het |
| Kmt2a |
A |
G |
9: 44,759,846 (GRCm39) |
S668P |
probably benign |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,362 (GRCm39) |
C94* |
probably null |
Het |
| Lgmn |
T |
C |
12: 102,364,536 (GRCm39) |
D311G |
probably damaging |
Het |
| Macroh2a1 |
T |
C |
13: 56,231,109 (GRCm39) |
|
probably null |
Het |
| Mfsd14b |
T |
C |
13: 65,260,307 (GRCm39) |
|
probably benign |
Het |
| Micu1 |
C |
A |
10: 59,592,549 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,425,532 (GRCm39) |
I4726V |
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,103,080 (GRCm39) |
N310K |
probably damaging |
Het |
| Napg |
T |
C |
18: 63,116,431 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,552,389 (GRCm39) |
R1818W |
probably damaging |
Het |
| Or1j13 |
T |
C |
2: 36,369,779 (GRCm39) |
D121G |
probably damaging |
Het |
| Or51af1 |
T |
A |
7: 103,141,954 (GRCm39) |
I44F |
probably damaging |
Het |
| Or5b99 |
A |
G |
19: 12,977,151 (GRCm39) |
D267G |
probably benign |
Het |
| Or6c214 |
A |
G |
10: 129,590,866 (GRCm39) |
V151A |
probably benign |
Het |
| Pdia2 |
A |
G |
17: 26,417,803 (GRCm39) |
F69L |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,564,404 (GRCm39) |
T1333A |
probably damaging |
Het |
| Platr26 |
A |
T |
2: 71,553,631 (GRCm39) |
|
noncoding transcript |
Het |
| Proc |
T |
C |
18: 32,266,536 (GRCm39) |
D97G |
probably benign |
Het |
| Ptpn23 |
C |
T |
9: 110,217,845 (GRCm39) |
R700H |
probably benign |
Het |
| Rragc |
T |
A |
4: 123,818,575 (GRCm39) |
|
probably null |
Het |
| Serac1 |
A |
T |
17: 6,111,855 (GRCm39) |
F244I |
probably benign |
Het |
| Snrpd3 |
A |
G |
10: 75,368,039 (GRCm39) |
D52G |
probably damaging |
Het |
| Thrb |
G |
T |
14: 17,981,837 (GRCm38) |
|
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,735,435 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,402,401 (GRCm39) |
C286S |
probably benign |
Het |
|
| Other mutations in Ntpcr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Ntpcr
|
APN |
8 |
126,474,501 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01582:Ntpcr
|
APN |
8 |
126,471,981 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01862:Ntpcr
|
APN |
8 |
126,462,837 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02045:Ntpcr
|
APN |
8 |
126,472,191 (GRCm39) |
splice site |
probably benign |
|
|
IGL02077:Ntpcr
|
APN |
8 |
126,464,107 (GRCm39) |
nonsense |
probably null |
|
|
R0491:Ntpcr
|
UTSW |
8 |
126,464,093 (GRCm39) |
nonsense |
probably null |
|
|
R1781:Ntpcr
|
UTSW |
8 |
126,472,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2412:Ntpcr
|
UTSW |
8 |
126,472,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3838:Ntpcr
|
UTSW |
8 |
126,464,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4453:Ntpcr
|
UTSW |
8 |
126,462,929 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6126:Ntpcr
|
UTSW |
8 |
126,462,626 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6440:Ntpcr
|
UTSW |
8 |
126,471,981 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6463:Ntpcr
|
UTSW |
8 |
126,462,843 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7102:Ntpcr
|
UTSW |
8 |
126,456,794 (GRCm39) |
missense |
unknown |
|
|
R7910:Ntpcr
|
UTSW |
8 |
126,474,483 (GRCm39) |
missense |
probably benign |
|
|
R8230:Ntpcr
|
UTSW |
8 |
126,464,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8732:Ntpcr
|
UTSW |
8 |
126,472,074 (GRCm39) |
missense |
probably benign |
|
|
R8876:Ntpcr
|
UTSW |
8 |
126,464,785 (GRCm39) |
intron |
probably benign |
|
|
X0024:Ntpcr
|
UTSW |
8 |
126,472,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0025:Ntpcr
|
UTSW |
8 |
126,472,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ntpcr
|
UTSW |
8 |
126,472,023 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGTGGTGCTGACATTCAGAGAG -3'
(R):5'- ATGTGACAGCTCAGGGCAACAG -3'
Sequencing Primer
(F):5'- CTGACATTCAGAGAGGGCCTG -3'
(R):5'- CAACAGTCAATTGGACTGCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation