Incidental Mutation 'IGL01450:Nkpd1'
| ID |
84609 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nkpd1
|
| Ensembl Gene |
ENSMUSG00000060621 |
| Gene Name |
NTPase, KAP family P-loop domain containing 1 |
| Synonyms |
2310015G09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL01450
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
19251763-19258981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19257550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 293
(F293S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151162
(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: F443S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077943
Gene: ENSMUSG00000060621
AA Change: F443S
| 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: F443S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214205
AA Change: F293S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
G |
A |
14: 103,288,919 (GRCm39) |
R143Q |
possibly damaging |
Het |
| Adh4 |
T |
A |
3: 138,129,794 (GRCm39) |
C207S |
probably benign |
Het |
| Akap8 |
C |
A |
17: 32,534,661 (GRCm39) |
R317L |
probably damaging |
Het |
| Aptx |
T |
C |
4: 40,688,133 (GRCm39) |
T182A |
probably damaging |
Het |
| Ccar2 |
A |
T |
14: 70,377,200 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,369 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,539,144 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
G |
2: 13,355,673 (GRCm39) |
|
probably benign |
Het |
| Cyp2j5 |
T |
A |
4: 96,546,927 (GRCm39) |
T196S |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,171,092 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
A |
T |
17: 84,940,984 (GRCm39) |
T67S |
possibly damaging |
Het |
| Fetub |
A |
G |
16: 22,747,986 (GRCm39) |
N54S |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,163,664 (GRCm39) |
Y486H |
probably damaging |
Het |
| Grb10 |
T |
A |
11: 11,920,432 (GRCm39) |
H62L |
probably damaging |
Het |
| H6pd |
T |
G |
4: 150,068,575 (GRCm39) |
H264P |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,520 (GRCm39) |
S747P |
probably benign |
Het |
| Mtcl3 |
T |
A |
10: 29,072,319 (GRCm39) |
M537K |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Osbpl1a |
A |
C |
18: 13,004,152 (GRCm39) |
F422V |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,727,207 (GRCm39) |
|
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,968,653 (GRCm39) |
R825C |
probably damaging |
Het |
| Plk2 |
G |
A |
13: 110,532,858 (GRCm39) |
V140M |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,524,244 (GRCm39) |
S388P |
probably benign |
Het |
| Rap1gds1 |
A |
T |
3: 138,671,681 (GRCm39) |
N146K |
probably damaging |
Het |
| Rgs7 |
C |
T |
1: 174,913,746 (GRCm39) |
V1M |
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,519,250 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
G |
11: 106,215,487 (GRCm39) |
I1163T |
probably damaging |
Het |
| Selenop |
C |
T |
15: 3,306,755 (GRCm39) |
T178M |
probably benign |
Het |
| Shank2 |
G |
T |
7: 143,838,805 (GRCm39) |
E680* |
probably null |
Het |
| Sipa1l2 |
A |
C |
8: 126,149,316 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
T |
C |
18: 78,226,745 (GRCm39) |
T437A |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,305,189 (GRCm39) |
P307S |
probably damaging |
Het |
| Sptb |
C |
A |
12: 76,671,014 (GRCm39) |
R443L |
possibly damaging |
Het |
| Stpg3 |
T |
C |
2: 25,104,622 (GRCm39) |
|
probably benign |
Het |
| Tinag |
T |
A |
9: 76,952,858 (GRCm39) |
E42V |
possibly damaging |
Het |
| Topors |
C |
A |
4: 40,262,417 (GRCm39) |
R289L |
probably damaging |
Het |
| Ubash3a |
C |
A |
17: 31,427,205 (GRCm39) |
A38E |
probably damaging |
Het |
| Vmn2r121 |
T |
A |
X: 123,040,888 (GRCm39) |
Y481F |
possibly damaging |
Het |
| Vps54 |
A |
T |
11: 21,241,135 (GRCm39) |
E359D |
probably benign |
Het |
| Xkr6 |
G |
A |
14: 64,035,664 (GRCm39) |
R255H |
probably damaging |
Het |
| Zfp750 |
C |
T |
11: 121,403,855 (GRCm39) |
R340H |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-11-11 |
Incidental Mutation