Incidental Mutation 'R5362:Nkpd1'
ID |
422870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nkpd1
|
Ensembl Gene |
ENSMUSG00000060621 |
Gene Name |
NTPase, KAP family P-loop domain containing 1 |
Synonyms |
2310015G09Rik |
MMRRC Submission |
043264-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R5362 (G1)
|
Quality Score |
207 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
19251763-19258981 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 19257193 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 324
(G324D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078908]
[ENSMUST00000207576]
[ENSMUST00000214205]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078908
AA Change: G324D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000077943 Gene: ENSMUSG00000060621 AA Change: G324D
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 |
probably damaging
Transcript: ENSMUST00000207576
AA Change: G324D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214205
AA Change: G174D
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
A |
T |
6: 133,271,445 (GRCm39) |
D163V |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ankrd17 |
G |
A |
5: 90,413,404 (GRCm39) |
A1170V |
probably damaging |
Het |
Ano1 |
A |
C |
7: 144,202,337 (GRCm39) |
|
probably benign |
Het |
Atl2 |
T |
C |
17: 80,168,890 (GRCm39) |
N37D |
probably damaging |
Het |
C2cd5 |
T |
C |
6: 143,028,969 (GRCm39) |
Y90C |
probably damaging |
Het |
Carm1 |
A |
G |
9: 21,498,655 (GRCm39) |
N499S |
probably benign |
Het |
Ccdc47 |
G |
A |
11: 106,099,039 (GRCm39) |
|
probably null |
Het |
Cd300lf |
G |
T |
11: 115,007,940 (GRCm39) |
L251M |
probably damaging |
Het |
Cfap74 |
A |
G |
4: 155,522,623 (GRCm39) |
S670G |
probably damaging |
Het |
Clec4a1 |
A |
G |
6: 122,909,196 (GRCm39) |
D188G |
probably damaging |
Het |
Col4a1 |
T |
C |
8: 11,295,760 (GRCm39) |
|
probably benign |
Het |
Csn2 |
T |
A |
5: 87,842,508 (GRCm39) |
H165L |
probably benign |
Het |
Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
Dlx3 |
T |
C |
11: 95,011,326 (GRCm39) |
V60A |
possibly damaging |
Het |
Elp1 |
A |
C |
4: 56,778,969 (GRCm39) |
I616S |
probably damaging |
Het |
Fam221a |
A |
G |
6: 49,353,049 (GRCm39) |
H21R |
probably damaging |
Het |
Foxj3 |
T |
A |
4: 119,477,340 (GRCm39) |
H349Q |
unknown |
Het |
Gm37240 |
G |
A |
3: 84,423,000 (GRCm39) |
T123I |
probably damaging |
Het |
Gpc1 |
A |
T |
1: 92,782,615 (GRCm39) |
T121S |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Itga2b |
A |
G |
11: 102,351,961 (GRCm39) |
V512A |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,002,675 (GRCm39) |
Y144C |
probably damaging |
Het |
Izumo3 |
A |
T |
4: 92,035,037 (GRCm39) |
I60K |
possibly damaging |
Het |
Kif9 |
G |
A |
9: 110,319,012 (GRCm39) |
V159M |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,265,914 (GRCm39) |
D229G |
probably damaging |
Het |
Nrp2 |
T |
A |
1: 62,808,221 (GRCm39) |
Y617N |
probably benign |
Het |
Ocm |
T |
C |
5: 143,960,674 (GRCm39) |
D91G |
probably damaging |
Het |
Or4l15 |
A |
G |
14: 50,197,986 (GRCm39) |
L181P |
possibly damaging |
Het |
Or52ad1 |
A |
G |
7: 102,995,454 (GRCm39) |
V227A |
probably damaging |
Het |
Or52n2b |
A |
G |
7: 104,565,834 (GRCm39) |
I223T |
probably damaging |
Het |
Or6c70 |
T |
C |
10: 129,710,422 (GRCm39) |
E68G |
probably damaging |
Het |
Pex5l |
G |
A |
3: 33,047,065 (GRCm39) |
A295V |
probably damaging |
Het |
Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
Pou2f2 |
G |
A |
7: 24,792,320 (GRCm39) |
P512S |
probably benign |
Het |
Prpf8 |
G |
A |
11: 75,397,236 (GRCm39) |
R2023Q |
possibly damaging |
Het |
Ptprd |
A |
T |
4: 76,047,050 (GRCm39) |
S399R |
probably damaging |
Het |
Qrich2 |
T |
C |
11: 116,337,976 (GRCm39) |
Y1889C |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Ranbp6 |
G |
T |
19: 29,789,128 (GRCm39) |
T408K |
probably benign |
Het |
Scn7a |
G |
A |
2: 66,530,342 (GRCm39) |
R668C |
probably damaging |
Het |
Sertad4 |
T |
C |
1: 192,529,414 (GRCm39) |
N134S |
probably damaging |
Het |
Spg11 |
G |
T |
2: 121,891,481 (GRCm39) |
N1963K |
probably damaging |
Het |
Svil |
C |
T |
18: 5,057,345 (GRCm39) |
P598S |
probably damaging |
Het |
Top2a |
T |
C |
11: 98,909,738 (GRCm39) |
N120S |
probably damaging |
Het |
Trappc9 |
C |
T |
15: 72,930,066 (GRCm39) |
E97K |
possibly damaging |
Het |
Vmn1r91 |
A |
T |
7: 19,835,386 (GRCm39) |
T102S |
probably benign |
Het |
Vmn2r99 |
G |
T |
17: 19,599,601 (GRCm39) |
M428I |
probably benign |
Het |
Zfp62 |
A |
T |
11: 49,107,439 (GRCm39) |
H510L |
probably damaging |
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 |
R2374:Nkpd1
|
UTSW |
7 |
19,257,900 (GRCm39) |
missense |
possibly damaging |
0.50 |
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 |
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'- TTTCTGCAGCCCGTGATCAC -3'
(R):5'- TCACGAACAGATGCTTGCCC -3'
Sequencing Primer
(F):5'- TGATCACGGAGCTGCACCTG -3'
(R):5'- AGATGCTTGCCCACGGAGTAC -3'
|
Posted On |
2016-08-04 |