Incidental Mutation 'R2226:Nkpd1'
ID |
239725 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nkpd1
|
Ensembl Gene |
ENSMUSG00000060621 |
Gene Name |
NTPase, KAP family P-loop domain containing 1 |
Synonyms |
2310015G09Rik |
MMRRC Submission |
040227-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R2226 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
19251763-19258981 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 19253745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 37
(Y37F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147092
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002112]
[ENSMUST00000078908]
[ENSMUST00000108455]
[ENSMUST00000135972]
[ENSMUST00000136873]
[ENSMUST00000147114]
[ENSMUST00000207576]
[ENSMUST00000214205]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002112
|
SMART Domains |
Protein: ENSMUSP00000002112 Gene: ENSMUSG00000002043
Domain | Start | End | E-Value | Type |
Pfam:TRAPP
|
6 |
159 |
1.3e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000078908
AA Change: Y37F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000077943 Gene: ENSMUSG00000060621 AA Change: Y37F
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 benign
Transcript: ENSMUST00000108455
|
SMART Domains |
Protein: ENSMUSP00000104095 Gene: ENSMUSG00000002043
Domain | Start | End | E-Value | Type |
Pfam:TRAPP
|
7 |
157 |
8.4e-35 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129808
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135972
|
SMART Domains |
Protein: ENSMUSP00000120406 Gene: ENSMUSG00000002043
Domain | Start | End | E-Value | Type |
Pfam:TRAPP
|
1 |
42 |
7e-11 |
PFAM |
Pfam:TRAPP
|
38 |
81 |
1.7e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136873
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147114
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207576
AA Change: Y37F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214205
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
A |
T |
4: 144,190,295 (GRCm39) |
V2E |
possibly damaging |
Het |
Aen |
C |
A |
7: 78,552,199 (GRCm39) |
T15K |
probably benign |
Het |
Aggf1 |
A |
G |
13: 95,507,354 (GRCm39) |
S144P |
probably damaging |
Het |
Ar |
T |
A |
X: 97,194,937 (GRCm39) |
M517K |
probably benign |
Het |
Ascc3 |
A |
G |
10: 50,630,148 (GRCm39) |
T1746A |
probably benign |
Het |
Atg9b |
A |
G |
5: 24,591,393 (GRCm39) |
V735A |
possibly damaging |
Het |
Atp1b3 |
A |
G |
9: 96,225,329 (GRCm39) |
F113S |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,604,917 (GRCm39) |
N1132S |
probably benign |
Het |
Ccdc150 |
A |
G |
1: 54,404,084 (GRCm39) |
I943V |
probably null |
Het |
Cntnap4 |
A |
G |
8: 113,542,120 (GRCm39) |
D751G |
probably damaging |
Het |
Dgkk |
T |
A |
X: 6,741,487 (GRCm39) |
D102E |
probably damaging |
Het |
Efhb |
A |
T |
17: 53,769,457 (GRCm39) |
|
probably null |
Het |
Elfn2 |
A |
G |
15: 78,558,443 (GRCm39) |
W35R |
probably damaging |
Het |
Emcn |
T |
C |
3: 137,109,778 (GRCm39) |
I140T |
possibly damaging |
Het |
Epha2 |
G |
A |
4: 141,048,548 (GRCm39) |
R569H |
probably damaging |
Het |
Gabrg2 |
A |
T |
11: 41,862,735 (GRCm39) |
F116L |
probably damaging |
Het |
Gm11555 |
T |
G |
11: 99,540,585 (GRCm39) |
R141S |
unknown |
Het |
Hectd3 |
T |
C |
4: 116,852,886 (GRCm39) |
I96T |
possibly damaging |
Het |
Hnrnpul2 |
T |
A |
19: 8,802,349 (GRCm39) |
N405K |
probably damaging |
Het |
Iigp1 |
A |
T |
18: 60,522,960 (GRCm39) |
K26I |
possibly damaging |
Het |
Kirrel2 |
T |
C |
7: 30,153,579 (GRCm39) |
K260R |
probably damaging |
Het |
Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
Krt19 |
T |
C |
11: 100,032,401 (GRCm39) |
E260G |
probably damaging |
Het |
Marchf7 |
A |
G |
2: 60,060,190 (GRCm39) |
R106G |
probably benign |
Het |
Mthfd2l |
G |
T |
5: 91,096,693 (GRCm39) |
E105* |
probably null |
Het |
Mtus1 |
C |
T |
8: 41,535,812 (GRCm39) |
V635M |
probably damaging |
Het |
Ndufaf5 |
T |
C |
2: 140,030,780 (GRCm39) |
V222A |
probably benign |
Het |
Nsun7 |
T |
A |
5: 66,418,562 (GRCm39) |
Y97* |
probably null |
Het |
Nxph3 |
T |
C |
11: 95,404,990 (GRCm39) |
Y17C |
probably benign |
Het |
Or2l5 |
T |
C |
16: 19,333,996 (GRCm39) |
H130R |
probably benign |
Het |
Or4k1 |
A |
G |
14: 50,378,076 (GRCm39) |
S7P |
probably damaging |
Het |
Or51a5 |
A |
G |
7: 102,771,115 (GRCm39) |
M292T |
probably benign |
Het |
Or5aq1 |
A |
C |
2: 86,966,590 (GRCm39) |
V25G |
possibly damaging |
Het |
Or7g19 |
A |
T |
9: 18,856,177 (GRCm39) |
I78F |
probably damaging |
Het |
P2rx2 |
A |
G |
5: 110,490,745 (GRCm39) |
F26S |
probably damaging |
Het |
Pank1 |
A |
T |
19: 34,804,763 (GRCm39) |
L131Q |
probably damaging |
Het |
Pcx |
T |
C |
19: 4,668,026 (GRCm39) |
I516T |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,376,188 (GRCm39) |
I950T |
possibly damaging |
Het |
Ppwd1 |
A |
G |
13: 104,353,753 (GRCm39) |
L335P |
probably damaging |
Het |
Ptch1 |
A |
G |
13: 63,661,485 (GRCm39) |
S1218P |
probably damaging |
Het |
Ptpn4 |
C |
T |
1: 119,610,515 (GRCm39) |
R664Q |
probably damaging |
Het |
Semp2l1 |
A |
T |
1: 32,584,934 (GRCm39) |
H325Q |
probably damaging |
Het |
Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
Sgsm3 |
A |
G |
15: 80,888,069 (GRCm39) |
E53G |
probably damaging |
Het |
Slc22a19 |
C |
T |
19: 7,661,215 (GRCm39) |
V320M |
possibly damaging |
Het |
Slc25a33 |
A |
T |
4: 149,838,306 (GRCm39) |
I122N |
probably benign |
Het |
Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
Spin2g |
A |
T |
X: 33,656,599 (GRCm39) |
I171N |
possibly damaging |
Het |
Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
Tesl2 |
T |
A |
X: 23,825,173 (GRCm39) |
M1L |
probably null |
Het |
Thoc2l |
T |
A |
5: 104,667,286 (GRCm39) |
Y603N |
probably damaging |
Het |
Ttc12 |
A |
G |
9: 49,353,135 (GRCm39) |
|
probably null |
Het |
Vmn2r100 |
A |
G |
17: 19,742,634 (GRCm39) |
K336R |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,701,295 (GRCm39) |
Y68* |
probably null |
Het |
Zfp738 |
A |
G |
13: 67,818,431 (GRCm39) |
F520S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACCCTGTGTGTTCTGCCC -3'
(R):5'- TAGTTGAGGCAGAGACCCAG -3'
Sequencing Primer
(F):5'- GTGTGTTCTGCCCCTGCC -3'
(R):5'- AAGGCCTCAGCTGAGCAC -3'
|
Posted On |
2014-10-15 |