Incidental Mutation 'R4895:Npat'
ID |
377575 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npat
|
Ensembl Gene |
ENSMUSG00000033054 |
Gene Name |
nuclear protein in the AT region |
Synonyms |
|
MMRRC Submission |
042499-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4895 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
53448347-53485642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 53481789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 1166
(L1166M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035850]
|
AlphaFold |
Q8BMA5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035850
AA Change: L1166M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048709 Gene: ENSMUSG00000033054 AA Change: L1166M
Domain | Start | End | E-Value | Type |
LisH
|
3 |
35 |
3.09e-3 |
SMART |
low complexity region
|
585 |
592 |
N/A |
INTRINSIC |
low complexity region
|
697 |
712 |
N/A |
INTRINSIC |
Pfam:NPAT_C
|
754 |
1420 |
4.7e-299 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148336
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
98% (84/86) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519P11Rik |
C |
A |
2: 154,454,990 (GRCm39) |
|
probably benign |
Het |
Abat |
G |
A |
16: 8,433,826 (GRCm39) |
A392T |
probably benign |
Het |
Abca14 |
G |
A |
7: 119,846,572 (GRCm39) |
|
probably null |
Het |
Abcc6 |
A |
T |
7: 45,630,414 (GRCm39) |
L1282Q |
possibly damaging |
Het |
Acss2 |
A |
G |
2: 155,392,401 (GRCm39) |
|
probably benign |
Het |
Adgrf1 |
G |
T |
17: 43,621,511 (GRCm39) |
V583L |
probably benign |
Het |
Aftph |
T |
C |
11: 20,646,801 (GRCm39) |
D825G |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,994,805 (GRCm39) |
V5363A |
probably benign |
Het |
Apba3 |
G |
A |
10: 81,107,117 (GRCm39) |
|
probably null |
Het |
Asb13 |
T |
C |
13: 3,693,589 (GRCm39) |
Y116H |
probably damaging |
Het |
Asb4 |
C |
A |
6: 5,398,266 (GRCm39) |
T77K |
probably damaging |
Het |
Atp8b4 |
A |
T |
2: 126,256,289 (GRCm39) |
H223Q |
probably benign |
Het |
Best1 |
A |
G |
19: 9,970,135 (GRCm39) |
L159P |
probably benign |
Het |
Cacna1h |
A |
T |
17: 25,608,396 (GRCm39) |
M731K |
probably damaging |
Het |
Catspere1 |
T |
A |
1: 177,687,427 (GRCm39) |
|
noncoding transcript |
Het |
Cenpv |
A |
T |
11: 62,418,346 (GRCm39) |
Y202* |
probably null |
Het |
Cep57 |
A |
T |
9: 13,727,449 (GRCm39) |
|
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,383,084 (GRCm39) |
D363V |
possibly damaging |
Het |
Cluh |
A |
G |
11: 74,558,231 (GRCm39) |
Y1126C |
probably damaging |
Het |
Cyp2j5 |
A |
G |
4: 96,551,347 (GRCm39) |
|
probably null |
Het |
Dnajc11 |
T |
C |
4: 152,064,390 (GRCm39) |
F514L |
probably damaging |
Het |
Efcab3 |
C |
T |
11: 104,611,112 (GRCm39) |
T318I |
probably benign |
Het |
Efcab3 |
T |
A |
11: 105,008,227 (GRCm39) |
|
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,640,496 (GRCm39) |
D1026G |
probably damaging |
Het |
Eif2b4 |
T |
G |
5: 31,350,298 (GRCm39) |
Q8P |
probably benign |
Het |
Epha6 |
A |
T |
16: 59,486,918 (GRCm39) |
V1043E |
probably benign |
Het |
Gm11562 |
G |
T |
11: 99,511,141 (GRCm39) |
Q20K |
unknown |
Het |
Gm14415 |
A |
T |
2: 176,796,114 (GRCm39) |
|
noncoding transcript |
Het |
Gm5431 |
A |
G |
11: 48,779,855 (GRCm39) |
S634P |
probably damaging |
Het |
Gpld1 |
C |
A |
13: 25,163,711 (GRCm39) |
N501K |
probably damaging |
Het |
Gsn |
C |
T |
2: 35,192,590 (GRCm39) |
R513C |
probably damaging |
Het |
Gulp1 |
T |
C |
1: 44,827,757 (GRCm39) |
F300L |
probably benign |
Het |
H2aj |
T |
C |
6: 136,785,660 (GRCm39) |
V108A |
possibly damaging |
Het |
Haus3 |
T |
C |
5: 34,325,414 (GRCm39) |
R82G |
probably benign |
Het |
Herc2 |
G |
A |
7: 55,872,734 (GRCm39) |
R4424H |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,553,130 (GRCm39) |
Q2520L |
probably benign |
Het |
Hs2st1 |
T |
C |
3: 144,171,014 (GRCm39) |
I53V |
probably benign |
Het |
Inpp5e |
C |
T |
2: 26,287,924 (GRCm39) |
R624Q |
probably damaging |
Het |
Ints8 |
G |
T |
4: 11,230,367 (GRCm39) |
C491* |
probably null |
Het |
Itpkb |
C |
A |
1: 180,241,460 (GRCm39) |
A710D |
probably damaging |
Het |
Kcnk4 |
A |
C |
19: 6,905,784 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,742,368 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
C |
T |
1: 193,014,622 (GRCm39) |
R594* |
probably null |
Het |
Map3k20 |
A |
G |
2: 72,232,700 (GRCm39) |
|
probably benign |
Het |
Maz |
A |
T |
7: 126,624,472 (GRCm39) |
|
probably null |
Het |
Mtr |
T |
C |
13: 12,231,752 (GRCm39) |
T651A |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,332,062 (GRCm39) |
E2252G |
probably damaging |
Het |
Ndufa10 |
A |
G |
1: 92,397,618 (GRCm39) |
Y61H |
probably damaging |
Het |
Or12e1 |
A |
C |
2: 87,022,192 (GRCm39) |
I54L |
probably benign |
Het |
Or4c108 |
A |
T |
2: 88,804,055 (GRCm39) |
F60Y |
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,341 (GRCm39) |
*310K |
probably null |
Het |
Or5b97 |
C |
T |
19: 12,878,251 (GRCm39) |
V298M |
probably damaging |
Het |
Or5h22 |
C |
T |
16: 58,895,020 (GRCm39) |
C141Y |
probably benign |
Het |
Or5p66 |
A |
C |
7: 107,885,802 (GRCm39) |
I177S |
probably damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,434,759 (GRCm39) |
F242L |
probably damaging |
Het |
Phip |
A |
G |
9: 82,841,648 (GRCm39) |
V57A |
probably benign |
Het |
Plekha7 |
A |
T |
7: 115,788,626 (GRCm39) |
|
probably null |
Het |
Pot1a |
A |
C |
6: 25,753,205 (GRCm39) |
F444V |
probably damaging |
Het |
Ppm1a |
C |
T |
12: 72,831,126 (GRCm39) |
P217L |
probably damaging |
Het |
Prepl |
A |
G |
17: 85,388,494 (GRCm39) |
F203S |
probably damaging |
Het |
Prl8a1 |
T |
C |
13: 27,759,513 (GRCm39) |
I175V |
probably benign |
Het |
Ranbp6 |
A |
T |
19: 29,787,175 (GRCm39) |
I1059N |
possibly damaging |
Het |
Rhag |
A |
G |
17: 41,122,242 (GRCm39) |
Q59R |
probably benign |
Het |
Sema4c |
A |
C |
1: 36,592,651 (GRCm39) |
|
probably null |
Het |
Sf3b3 |
T |
C |
8: 111,542,656 (GRCm39) |
D902G |
probably benign |
Het |
Tbc1d23 |
A |
G |
16: 57,019,220 (GRCm39) |
|
probably null |
Het |
Tbrg1 |
A |
T |
9: 37,566,375 (GRCm39) |
I54N |
probably damaging |
Het |
Tchh |
A |
T |
3: 93,352,993 (GRCm39) |
E811V |
unknown |
Het |
Tenm3 |
T |
A |
8: 48,754,006 (GRCm39) |
D799V |
probably damaging |
Het |
Tlr5 |
T |
C |
1: 182,801,764 (GRCm39) |
L342P |
probably damaging |
Het |
Tppp |
C |
T |
13: 74,178,996 (GRCm39) |
R146* |
probably null |
Het |
Trpm4 |
A |
T |
7: 44,967,482 (GRCm39) |
M574K |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,195,345 (GRCm39) |
F1288Y |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,256,298 (GRCm39) |
K1124N |
probably damaging |
Het |
Usf3 |
A |
C |
16: 44,041,459 (GRCm39) |
S1980R |
possibly damaging |
Het |
Vav2 |
T |
C |
2: 27,208,973 (GRCm39) |
D100G |
probably damaging |
Het |
Vmn2r3 |
G |
T |
3: 64,167,182 (GRCm39) |
H650N |
probably benign |
Het |
Vmn2r59 |
T |
A |
7: 41,695,218 (GRCm39) |
Y398F |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,187,396 (GRCm39) |
D1142G |
possibly damaging |
Het |
Zfp933 |
G |
A |
4: 147,910,892 (GRCm39) |
R235* |
probably null |
Het |
|
Other mutations in Npat |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00497:Npat
|
APN |
9 |
53,478,100 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL00503:Npat
|
APN |
9 |
53,483,949 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL00694:Npat
|
APN |
9 |
53,474,817 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00731:Npat
|
APN |
9 |
53,473,386 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00907:Npat
|
APN |
9 |
53,474,590 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL00949:Npat
|
APN |
9 |
53,474,662 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01403:Npat
|
APN |
9 |
53,466,429 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01626:Npat
|
APN |
9 |
53,467,871 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01936:Npat
|
APN |
9 |
53,469,526 (GRCm39) |
splice site |
probably benign |
|
IGL02142:Npat
|
APN |
9 |
53,481,207 (GRCm39) |
missense |
probably benign |
|
IGL02215:Npat
|
APN |
9 |
53,470,417 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02250:Npat
|
APN |
9 |
53,460,251 (GRCm39) |
nonsense |
probably null |
|
IGL02624:Npat
|
APN |
9 |
53,478,110 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02928:Npat
|
APN |
9 |
53,478,138 (GRCm39) |
splice site |
probably benign |
|
IGL02931:Npat
|
APN |
9 |
53,482,341 (GRCm39) |
nonsense |
probably null |
|
IGL03128:Npat
|
APN |
9 |
53,461,333 (GRCm39) |
splice site |
probably benign |
|
IGL03238:Npat
|
APN |
9 |
53,481,726 (GRCm39) |
missense |
probably damaging |
0.98 |
Flotsam
|
UTSW |
9 |
53,481,870 (GRCm39) |
nonsense |
probably null |
|
kindling
|
UTSW |
9 |
53,474,749 (GRCm39) |
missense |
probably damaging |
0.99 |
R0606:Npat
|
UTSW |
9 |
53,467,781 (GRCm39) |
critical splice donor site |
probably null |
|
R0688:Npat
|
UTSW |
9 |
53,481,522 (GRCm39) |
missense |
probably benign |
0.18 |
R0839:Npat
|
UTSW |
9 |
53,456,480 (GRCm39) |
missense |
probably damaging |
0.99 |
R0947:Npat
|
UTSW |
9 |
53,481,624 (GRCm39) |
missense |
probably benign |
0.08 |
R1070:Npat
|
UTSW |
9 |
53,483,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R1480:Npat
|
UTSW |
9 |
53,474,366 (GRCm39) |
frame shift |
probably null |
|
R1599:Npat
|
UTSW |
9 |
53,473,704 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1644:Npat
|
UTSW |
9 |
53,481,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R1646:Npat
|
UTSW |
9 |
53,466,434 (GRCm39) |
missense |
probably benign |
0.32 |
R1699:Npat
|
UTSW |
9 |
53,473,960 (GRCm39) |
missense |
probably benign |
|
R1765:Npat
|
UTSW |
9 |
53,481,522 (GRCm39) |
missense |
probably benign |
0.00 |
R1793:Npat
|
UTSW |
9 |
53,463,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R1866:Npat
|
UTSW |
9 |
53,474,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R1898:Npat
|
UTSW |
9 |
53,474,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R2018:Npat
|
UTSW |
9 |
53,473,791 (GRCm39) |
missense |
probably benign |
0.34 |
R2019:Npat
|
UTSW |
9 |
53,473,791 (GRCm39) |
missense |
probably benign |
0.34 |
R2213:Npat
|
UTSW |
9 |
53,463,681 (GRCm39) |
missense |
probably benign |
0.00 |
R2432:Npat
|
UTSW |
9 |
53,469,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R3816:Npat
|
UTSW |
9 |
53,481,216 (GRCm39) |
missense |
probably damaging |
0.99 |
R4764:Npat
|
UTSW |
9 |
53,483,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R4889:Npat
|
UTSW |
9 |
53,473,507 (GRCm39) |
missense |
probably benign |
0.00 |
R4923:Npat
|
UTSW |
9 |
53,482,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R5377:Npat
|
UTSW |
9 |
53,461,336 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5397:Npat
|
UTSW |
9 |
53,481,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R5504:Npat
|
UTSW |
9 |
53,481,564 (GRCm39) |
missense |
probably benign |
0.01 |
R5509:Npat
|
UTSW |
9 |
53,481,542 (GRCm39) |
missense |
probably benign |
0.00 |
R5563:Npat
|
UTSW |
9 |
53,474,427 (GRCm39) |
missense |
probably damaging |
0.97 |
R5677:Npat
|
UTSW |
9 |
53,466,400 (GRCm39) |
missense |
probably benign |
0.00 |
R5868:Npat
|
UTSW |
9 |
53,481,424 (GRCm39) |
missense |
probably damaging |
0.96 |
R5927:Npat
|
UTSW |
9 |
53,473,521 (GRCm39) |
nonsense |
probably null |
|
R6009:Npat
|
UTSW |
9 |
53,474,749 (GRCm39) |
missense |
probably damaging |
0.99 |
R6247:Npat
|
UTSW |
9 |
53,456,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R6434:Npat
|
UTSW |
9 |
53,474,739 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6784:Npat
|
UTSW |
9 |
53,469,458 (GRCm39) |
missense |
probably damaging |
1.00 |
R6799:Npat
|
UTSW |
9 |
53,462,930 (GRCm39) |
missense |
probably benign |
0.21 |
R6878:Npat
|
UTSW |
9 |
53,467,899 (GRCm39) |
missense |
probably benign |
|
R7027:Npat
|
UTSW |
9 |
53,481,216 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7383:Npat
|
UTSW |
9 |
53,474,078 (GRCm39) |
missense |
probably benign |
|
R7404:Npat
|
UTSW |
9 |
53,466,233 (GRCm39) |
splice site |
probably null |
|
R7408:Npat
|
UTSW |
9 |
53,481,216 (GRCm39) |
missense |
probably damaging |
0.99 |
R7444:Npat
|
UTSW |
9 |
53,460,210 (GRCm39) |
missense |
probably damaging |
0.97 |
R7755:Npat
|
UTSW |
9 |
53,470,470 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7992:Npat
|
UTSW |
9 |
53,474,167 (GRCm39) |
missense |
probably benign |
0.00 |
R8108:Npat
|
UTSW |
9 |
53,482,429 (GRCm39) |
missense |
probably benign |
0.00 |
R8126:Npat
|
UTSW |
9 |
53,463,634 (GRCm39) |
missense |
probably benign |
|
R8213:Npat
|
UTSW |
9 |
53,481,870 (GRCm39) |
nonsense |
probably null |
|
R8354:Npat
|
UTSW |
9 |
53,478,251 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8429:Npat
|
UTSW |
9 |
53,481,909 (GRCm39) |
nonsense |
probably null |
|
R8454:Npat
|
UTSW |
9 |
53,478,251 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8865:Npat
|
UTSW |
9 |
53,481,940 (GRCm39) |
missense |
probably benign |
0.00 |
R8894:Npat
|
UTSW |
9 |
53,467,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R9045:Npat
|
UTSW |
9 |
53,474,776 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9375:Npat
|
UTSW |
9 |
53,474,456 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9511:Npat
|
UTSW |
9 |
53,473,406 (GRCm39) |
missense |
probably benign |
0.02 |
R9723:Npat
|
UTSW |
9 |
53,481,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R9723:Npat
|
UTSW |
9 |
53,473,746 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Npat
|
UTSW |
9 |
53,478,128 (GRCm39) |
missense |
probably benign |
0.28 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAAATACACAGGGGTCAC -3'
(R):5'- GTTCCACCTACAGAAGTGGC -3'
Sequencing Primer
(F):5'- GGGTCACTGTATAAGATGACCTCC -3'
(R):5'- CACCTACAGAAGTGGCATTTTTATTG -3'
|
Posted On |
2016-03-17 |