Incidental Mutation 'R2225:Nkpd1'
| ID |
239663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nkpd1
|
| Ensembl Gene |
ENSMUSG00000060621 |
| Gene Name |
NTPase, KAP family P-loop domain containing 1 |
| Synonyms |
2310015G09Rik |
| MMRRC Submission |
040226-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R2225 (G1)
|
| Quality Score |
130 |
|
Status
|
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: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
C |
6: 88,813,349 (GRCm39) |
L439R |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,345,829 (GRCm39) |
T293A |
probably 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 |
| Akap9 |
A |
T |
5: 4,127,271 (GRCm39) |
R3706S |
probably damaging |
Het |
| Btd |
A |
G |
14: 31,389,017 (GRCm39) |
D246G |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,989,305 (GRCm39) |
S123P |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,423,704 (GRCm39) |
E899G |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,198,941 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,375,041 (GRCm39) |
I2071T |
probably damaging |
Het |
| Cwc22 |
T |
A |
2: 77,738,495 (GRCm39) |
|
probably benign |
Het |
| Ddah2 |
T |
A |
17: 35,279,187 (GRCm39) |
I16N |
probably damaging |
Het |
| Dld |
T |
G |
12: 31,391,448 (GRCm39) |
M123L |
probably benign |
Het |
| Eif5b |
A |
T |
1: 38,058,304 (GRCm39) |
K202I |
unknown |
Het |
| Gm6430 |
T |
C |
1: 96,953,441 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac9 |
C |
T |
12: 34,457,801 (GRCm39) |
V251I |
probably benign |
Het |
| Hoxa10 |
T |
C |
6: 52,209,616 (GRCm39) |
E52G |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,177,760 (GRCm39) |
V117M |
probably benign |
Het |
| Htra4 |
T |
C |
8: 25,515,736 (GRCm39) |
D434G |
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,556,336 (GRCm39) |
M726V |
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,651,534 (GRCm39) |
V886A |
possibly damaging |
Het |
| Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
| Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
| Limk1 |
G |
T |
5: 134,690,410 (GRCm39) |
|
probably null |
Het |
| Lonrf1 |
T |
C |
8: 36,703,252 (GRCm39) |
D308G |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,576,265 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,587,316 (GRCm39) |
C2719Y |
possibly damaging |
Het |
| Mvb12b |
G |
A |
2: 33,730,211 (GRCm39) |
T60I |
possibly damaging |
Het |
| Myh2 |
C |
T |
11: 67,084,555 (GRCm39) |
T1698M |
probably benign |
Het |
| Naalad2 |
A |
T |
9: 18,287,829 (GRCm39) |
V267E |
possibly damaging |
Het |
| Or10d5 |
T |
C |
9: 39,861,833 (GRCm39) |
K78R |
possibly damaging |
Het |
| Or2l5 |
T |
C |
16: 19,333,996 (GRCm39) |
H130R |
probably benign |
Het |
| Or8g33 |
T |
C |
9: 39,337,915 (GRCm39) |
I151V |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,059,760 (GRCm39) |
P1190S |
probably benign |
Het |
| Reck |
A |
G |
4: 43,922,837 (GRCm39) |
T371A |
probably benign |
Het |
| Rnf185 |
T |
C |
11: 3,382,445 (GRCm39) |
D44G |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,948,095 (GRCm39) |
E1196G |
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,322,170 (GRCm39) |
|
probably benign |
Het |
| Sf3b3 |
T |
C |
8: 111,541,205 (GRCm39) |
Y970C |
probably damaging |
Het |
| Sfxn1 |
A |
G |
13: 54,239,536 (GRCm39) |
T20A |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,037,979 (GRCm39) |
|
probably benign |
Het |
| Spata31d1a |
T |
A |
13: 59,851,529 (GRCm39) |
I200L |
probably benign |
Het |
| Srsf6 |
G |
A |
2: 162,773,619 (GRCm39) |
S10N |
probably damaging |
Het |
| Tbxa2r |
A |
G |
10: 81,168,983 (GRCm39) |
Y224C |
probably benign |
Het |
| Tlr5 |
A |
G |
1: 182,799,941 (GRCm39) |
|
probably benign |
Het |
| Tmem270 |
A |
G |
5: 134,935,492 (GRCm39) |
L21P |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,206,218 (GRCm39) |
E359G |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,975,035 (GRCm39) |
C131S |
probably damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,771,529 (GRCm39) |
|
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,314,598 (GRCm39) |
|
probably null |
Het |
| Wiz |
C |
T |
17: 32,575,899 (GRCm39) |
V836M |
probably damaging |
Het |
| Zfp451 |
T |
A |
1: 33,809,988 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAACCCTGTGTGTTCTGC -3'
(R):5'- TAGTTGAGGCAGAGACCCAG -3'
Sequencing Primer
(F):5'- GTGTGTTCTGCCCCTGC -3'
(R):5'- AAGGCCTCAGCTGAGCAC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation