Incidental Mutation 'R2374:Nkpd1'
ID |
248232 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nkpd1
|
Ensembl Gene |
ENSMUSG00000060621 |
Gene Name |
NTPase, KAP family P-loop domain containing 1 |
Synonyms |
2310015G09Rik |
MMRRC Submission |
040353-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R2374 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
19251763-19258981 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 19257900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 560
(T560S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078908]
[ENSMUST00000207576]
[ENSMUST00000214205]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078908
AA Change: T560S
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000077943 Gene: ENSMUSG00000060621 AA Change: T560S
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
103 |
N/A |
INTRINSIC |
low complexity region
|
129 |
158 |
N/A |
INTRINSIC |
Pfam:KAP_NTPase
|
186 |
642 |
5.7e-29 |
PFAM |
low complexity region
|
771 |
780 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207576
AA Change: T560S
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214205
AA Change: T410S
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.2910 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.7%
|
Validation Efficiency |
97% (33/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp2 |
C |
T |
18: 80,174,202 (GRCm39) |
R69Q |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 36,939,545 (GRCm39) |
D133G |
probably benign |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Clec4b1 |
T |
G |
6: 123,027,597 (GRCm39) |
L18R |
probably damaging |
Het |
Cntrl |
G |
A |
2: 35,043,288 (GRCm39) |
V706I |
possibly damaging |
Het |
Dhx30 |
A |
G |
9: 109,920,632 (GRCm39) |
L294P |
probably damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,662,494 (GRCm39) |
Y60H |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,074,711 (GRCm39) |
L504P |
probably damaging |
Het |
Gm10754 |
A |
G |
10: 97,518,013 (GRCm39) |
|
probably benign |
Het |
Grid1 |
G |
A |
14: 35,043,764 (GRCm39) |
|
probably benign |
Het |
Hydin |
A |
G |
8: 111,291,780 (GRCm39) |
N3424S |
probably damaging |
Het |
Itgb2 |
G |
A |
10: 77,395,515 (GRCm39) |
V539I |
probably benign |
Het |
Itgb5 |
T |
A |
16: 33,740,168 (GRCm39) |
V426E |
probably damaging |
Het |
Ly6e |
A |
G |
15: 74,830,470 (GRCm39) |
S107G |
probably damaging |
Het |
Mc3r |
G |
A |
2: 172,091,074 (GRCm39) |
A99T |
possibly damaging |
Het |
Myo15a |
T |
G |
11: 60,369,669 (GRCm39) |
S810A |
possibly damaging |
Het |
Neb |
A |
G |
2: 52,153,669 (GRCm39) |
W2419R |
probably damaging |
Het |
Or2n1c |
T |
C |
17: 38,519,958 (GRCm39) |
M274T |
probably damaging |
Het |
Or4b1b |
A |
T |
2: 90,112,795 (GRCm39) |
S41R |
possibly damaging |
Het |
Rasa3 |
A |
G |
8: 13,627,411 (GRCm39) |
L697P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,059,517 (GRCm39) |
Y2443H |
probably damaging |
Het |
Steap2 |
A |
G |
5: 5,725,845 (GRCm39) |
I393T |
probably damaging |
Het |
Tbc1d12 |
T |
A |
19: 38,825,614 (GRCm39) |
L155Q |
possibly damaging |
Het |
Tnni3k |
A |
T |
3: 154,492,422 (GRCm39) |
M816K |
probably benign |
Het |
Ugt2a3 |
T |
C |
5: 87,475,050 (GRCm39) |
D398G |
probably damaging |
Het |
Vmn1r25 |
A |
T |
6: 57,955,543 (GRCm39) |
S249T |
probably benign |
Het |
Vmn2r17 |
C |
A |
5: 109,575,104 (GRCm39) |
P137Q |
probably benign |
Het |
Zbtb26 |
A |
G |
2: 37,326,497 (GRCm39) |
S180P |
probably benign |
Het |
Zfy1 |
A |
T |
Y: 726,391 (GRCm39) |
L458Q |
probably damaging |
Het |
Zfy1 |
G |
C |
Y: 726,392 (GRCm39) |
L458V |
possibly damaging |
Het |
Zmpste24 |
T |
C |
4: 120,931,734 (GRCm39) |
E297G |
probably benign |
Het |
|
Other mutations in Nkpd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01020:Nkpd1
|
APN |
7 |
19,252,674 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01140:Nkpd1
|
APN |
7 |
19,257,387 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL01450:Nkpd1
|
APN |
7 |
19,257,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R0003:Nkpd1
|
UTSW |
7 |
19,253,852 (GRCm39) |
missense |
probably benign |
|
R0626:Nkpd1
|
UTSW |
7 |
19,257,099 (GRCm39) |
missense |
probably benign |
0.02 |
R1171:Nkpd1
|
UTSW |
7 |
19,258,012 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1637:Nkpd1
|
UTSW |
7 |
19,257,904 (GRCm39) |
missense |
probably benign |
0.00 |
R1722:Nkpd1
|
UTSW |
7 |
19,257,846 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1823:Nkpd1
|
UTSW |
7 |
19,257,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R2141:Nkpd1
|
UTSW |
7 |
19,258,162 (GRCm39) |
missense |
probably damaging |
0.99 |
R2224:Nkpd1
|
UTSW |
7 |
19,253,745 (GRCm39) |
missense |
probably benign |
0.00 |
R2225:Nkpd1
|
UTSW |
7 |
19,253,745 (GRCm39) |
missense |
probably benign |
0.00 |
R2226:Nkpd1
|
UTSW |
7 |
19,253,745 (GRCm39) |
missense |
probably benign |
0.00 |
R2274:Nkpd1
|
UTSW |
7 |
19,257,822 (GRCm39) |
missense |
probably benign |
0.01 |
R2275:Nkpd1
|
UTSW |
7 |
19,257,822 (GRCm39) |
missense |
probably benign |
0.01 |
R3108:Nkpd1
|
UTSW |
7 |
19,256,903 (GRCm39) |
missense |
probably damaging |
0.98 |
R4940:Nkpd1
|
UTSW |
7 |
19,257,498 (GRCm39) |
nonsense |
probably null |
|
R5182:Nkpd1
|
UTSW |
7 |
19,257,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R5362:Nkpd1
|
UTSW |
7 |
19,257,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R5458:Nkpd1
|
UTSW |
7 |
19,258,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R5681:Nkpd1
|
UTSW |
7 |
19,257,498 (GRCm39) |
nonsense |
probably null |
|
R5684:Nkpd1
|
UTSW |
7 |
19,257,498 (GRCm39) |
nonsense |
probably null |
|
R5685:Nkpd1
|
UTSW |
7 |
19,257,498 (GRCm39) |
nonsense |
probably null |
|
R6177:Nkpd1
|
UTSW |
7 |
19,257,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R6200:Nkpd1
|
UTSW |
7 |
19,258,528 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7348:Nkpd1
|
UTSW |
7 |
19,258,341 (GRCm39) |
missense |
probably damaging |
0.99 |
R7356:Nkpd1
|
UTSW |
7 |
19,257,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R8239:Nkpd1
|
UTSW |
7 |
19,253,753 (GRCm39) |
missense |
probably benign |
|
R8791:Nkpd1
|
UTSW |
7 |
19,258,095 (GRCm39) |
missense |
probably benign |
0.08 |
R8936:Nkpd1
|
UTSW |
7 |
19,255,875 (GRCm39) |
missense |
probably damaging |
0.98 |
R9200:Nkpd1
|
UTSW |
7 |
19,257,683 (GRCm39) |
missense |
probably benign |
0.35 |
R9213:Nkpd1
|
UTSW |
7 |
19,258,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R9601:Nkpd1
|
UTSW |
7 |
19,257,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R9609:Nkpd1
|
UTSW |
7 |
19,257,462 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9622:Nkpd1
|
UTSW |
7 |
19,257,867 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Nkpd1
|
UTSW |
7 |
19,257,877 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Nkpd1
|
UTSW |
7 |
19,257,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATCTTCATCCTGGTGGTGGAC -3'
(R):5'- TCGGGCACGTACTCATACAG -3'
Sequencing Primer
(F):5'- GTGGACCCCAGCATTCTG -3'
(R):5'- GGCAATCACCCTCGTCATG -3'
|
Posted On |
2014-11-11 |