Incidental Mutation 'R4453:Ntpcr'
| ID |
329050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntpcr
|
| Ensembl Gene |
ENSMUSG00000031851 |
| Gene Name |
nucleoside-triphosphatase, cancer-related |
| Synonyms |
2310079N02Rik |
| MMRRC Submission |
041152-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R4453 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
126456724-126474974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 126462929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 49
(V49I)
|
| 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
AA Change: V53I
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034313
Gene: ENSMUSG00000031851
AA Change: V53I
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
1 |
170 |
2.61e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065135
AA Change: V53I
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000069384
Gene: ENSMUSG00000031851
AA Change: V53I
| 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
AA Change: R48H
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121271
Gene: ENSMUSG00000031851
AA Change: R48H
| 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
AA Change: V49I
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000115996
Gene: ENSMUSG00000031851
AA Change: V49I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NTPase_1
|
6 |
178 |
3.2e-63 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
A |
G |
1: 93,322,075 (GRCm39) |
D361G |
probably damaging |
Het |
| Atp10a |
TGGCGGCGGC |
TGGCGGC |
7: 58,308,248 (GRCm39) |
|
probably benign |
Het |
| Ccdc86 |
G |
T |
19: 10,925,883 (GRCm39) |
P239T |
probably damaging |
Het |
| Ces2h |
G |
A |
8: 105,741,288 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,379,190 (GRCm39) |
S43R |
probably damaging |
Het |
| Cpne6 |
G |
A |
14: 55,750,054 (GRCm39) |
V62M |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,642,664 (GRCm39) |
C161R |
probably damaging |
Het |
| Dnajc10 |
T |
C |
2: 80,176,967 (GRCm39) |
S641P |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Grm2 |
G |
A |
9: 106,531,078 (GRCm39) |
T137I |
probably damaging |
Het |
| Gusb |
A |
G |
5: 130,027,324 (GRCm39) |
V327A |
possibly damaging |
Het |
| Helz |
C |
T |
11: 107,563,455 (GRCm39) |
Q1631* |
probably null |
Het |
| Hspa1a |
A |
G |
17: 35,189,269 (GRCm39) |
Y545H |
probably benign |
Het |
| Hus1 |
A |
T |
11: 8,956,035 (GRCm39) |
M166K |
probably damaging |
Het |
| Kcnh1 |
C |
A |
1: 192,187,825 (GRCm39) |
T762K |
probably damaging |
Het |
| Limd1 |
C |
A |
9: 123,309,359 (GRCm39) |
Q353K |
possibly damaging |
Het |
| Lipe |
T |
A |
7: 25,097,115 (GRCm39) |
K276I |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,710,530 (GRCm39) |
N32S |
probably null |
Het |
| Ppp1r1c |
A |
G |
2: 79,538,575 (GRCm39) |
I20V |
possibly damaging |
Het |
| Prdm13 |
G |
T |
4: 21,679,464 (GRCm39) |
A342E |
unknown |
Het |
| Prkd3 |
C |
A |
17: 79,290,975 (GRCm39) |
R180L |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,099,274 (GRCm39) |
F1593L |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,155,603 (GRCm39) |
C95S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,272 (GRCm39) |
M1510V |
probably benign |
Het |
| Taf12 |
A |
G |
4: 132,010,306 (GRCm39) |
I92V |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tssk5 |
G |
A |
15: 76,258,743 (GRCm39) |
R48C |
probably benign |
Het |
| Wwtr1 |
T |
C |
3: 57,482,680 (GRCm39) |
|
probably null |
Het |
| Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
| Zfp473 |
T |
A |
7: 44,382,678 (GRCm39) |
T552S |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,763,465 (GRCm39) |
F1371L |
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 |
|
|
R0988:Ntpcr
|
UTSW |
8 |
126,464,170 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- GACAAGGTAAAACTTCTTGACCC -3'
(R):5'- CTTGCCCATGACACTTCCAG -3'
Sequencing Primer
(F):5'- AAGGTAAAACTTCTTGACCCCTCTTC -3'
(R):5'- ACTCCTTGTCTCAGGGAAGAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation