Incidental Mutation 'R1646:Npat'
ID |
173887 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npat
|
Ensembl Gene |
ENSMUSG00000033054 |
Gene Name |
nuclear protein in the AT region |
Synonyms |
|
MMRRC Submission |
039682-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1646 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
53448347-53485642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53466434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 241
(V241A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035850]
|
AlphaFold |
Q8BMA5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035850
AA Change: V241A
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000048709 Gene: ENSMUSG00000033054 AA Change: V241A
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 |
|
Meta Mutation Damage Score |
0.0608 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.8%
|
Validation Efficiency |
96% (69/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
T |
G |
4: 63,302,129 (GRCm39) |
I581L |
probably benign |
Het |
Cacnb4 |
A |
G |
2: 52,364,912 (GRCm39) |
I117T |
possibly damaging |
Het |
Capn1 |
A |
T |
19: 6,047,760 (GRCm39) |
F434L |
probably benign |
Het |
Cbs |
T |
C |
17: 31,832,169 (GRCm39) |
T547A |
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,739,948 (GRCm39) |
L2557* |
probably null |
Het |
Dach1 |
A |
G |
14: 98,406,550 (GRCm39) |
S66P |
unknown |
Het |
Ddx31 |
T |
C |
2: 28,782,532 (GRCm39) |
V625A |
probably benign |
Het |
Dmxl1 |
T |
G |
18: 50,095,328 (GRCm39) |
V2969G |
probably damaging |
Het |
Eapp |
T |
A |
12: 54,732,745 (GRCm39) |
K122* |
probably null |
Het |
Elapor1 |
A |
T |
3: 108,370,306 (GRCm39) |
S751T |
probably damaging |
Het |
Epb41l5 |
G |
T |
1: 119,477,752 (GRCm39) |
|
probably benign |
Het |
Fat1 |
T |
C |
8: 45,471,079 (GRCm39) |
S1628P |
probably damaging |
Het |
Fgfr2 |
T |
A |
7: 129,844,374 (GRCm39) |
E37V |
probably damaging |
Het |
Fgfr4 |
A |
T |
13: 55,313,777 (GRCm39) |
N529Y |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,808,861 (GRCm39) |
T1727S |
probably benign |
Het |
Gak |
A |
T |
5: 108,750,720 (GRCm39) |
S397T |
probably damaging |
Het |
Gm6040 |
T |
A |
8: 21,407,113 (GRCm39) |
I36F |
possibly damaging |
Het |
Grhl1 |
A |
G |
12: 24,661,860 (GRCm39) |
D513G |
possibly damaging |
Het |
Gstt1 |
T |
A |
10: 75,619,940 (GRCm39) |
D219V |
possibly damaging |
Het |
Hcfc2 |
T |
G |
10: 82,536,861 (GRCm39) |
V91G |
probably damaging |
Het |
Hells |
A |
T |
19: 38,956,227 (GRCm39) |
I808L |
probably benign |
Het |
Icmt |
T |
A |
4: 152,384,172 (GRCm39) |
V110E |
possibly damaging |
Het |
Ilrun |
A |
G |
17: 28,012,934 (GRCm39) |
S88P |
probably damaging |
Het |
Iqca1 |
C |
T |
1: 90,067,760 (GRCm39) |
V164M |
probably damaging |
Het |
Klri1 |
G |
A |
6: 129,680,299 (GRCm39) |
P119S |
probably benign |
Het |
Krt71 |
C |
A |
15: 101,647,199 (GRCm39) |
|
probably null |
Het |
Lpin1 |
A |
G |
12: 16,623,659 (GRCm39) |
|
probably null |
Het |
Macir |
A |
T |
1: 97,573,531 (GRCm39) |
I178N |
probably damaging |
Het |
Metap2 |
T |
C |
10: 93,706,059 (GRCm39) |
H241R |
probably damaging |
Het |
Myh15 |
A |
G |
16: 49,015,931 (GRCm39) |
Y1869C |
probably damaging |
Het |
Myo1h |
G |
A |
5: 114,455,693 (GRCm39) |
G59E |
possibly damaging |
Het |
Ncam2 |
T |
G |
16: 81,262,594 (GRCm39) |
|
probably benign |
Het |
Npbwr1 |
C |
A |
1: 5,987,473 (GRCm39) |
V14L |
probably benign |
Het |
Nup37 |
T |
A |
10: 88,014,096 (GRCm39) |
V323E |
possibly damaging |
Het |
Or11g27 |
A |
T |
14: 50,771,040 (GRCm39) |
Q57L |
probably benign |
Het |
Or5m9b |
A |
G |
2: 85,905,960 (GRCm39) |
N292S |
probably damaging |
Het |
Or5p59 |
C |
T |
7: 107,702,798 (GRCm39) |
T94I |
probably benign |
Het |
Or7a35 |
C |
A |
10: 78,853,340 (GRCm39) |
Y61* |
probably null |
Het |
Pdlim4 |
A |
T |
11: 53,947,080 (GRCm39) |
L132Q |
possibly damaging |
Het |
Ptcd3 |
T |
C |
6: 71,875,379 (GRCm39) |
D201G |
probably benign |
Het |
Ptk7 |
A |
T |
17: 46,897,223 (GRCm39) |
F370I |
probably benign |
Het |
Pus7l |
T |
C |
15: 94,431,517 (GRCm39) |
N371D |
probably benign |
Het |
Pzp |
G |
A |
6: 128,480,518 (GRCm39) |
A589V |
probably benign |
Het |
Rasef |
T |
A |
4: 73,652,786 (GRCm39) |
R572W |
probably damaging |
Het |
Reep5 |
T |
C |
18: 34,482,712 (GRCm39) |
T166A |
probably benign |
Het |
Rhov |
A |
G |
2: 119,101,501 (GRCm39) |
V35A |
probably damaging |
Het |
Ripk4 |
C |
T |
16: 97,545,097 (GRCm39) |
G517R |
probably damaging |
Het |
Rnasel |
A |
G |
1: 153,630,800 (GRCm39) |
T439A |
probably damaging |
Het |
Slamf9 |
A |
G |
1: 172,304,907 (GRCm39) |
T174A |
probably benign |
Het |
Slc12a9 |
A |
G |
5: 137,321,411 (GRCm39) |
L414P |
probably damaging |
Het |
Slf1 |
G |
A |
13: 77,214,767 (GRCm39) |
R640* |
probably null |
Het |
Slfn8 |
G |
T |
11: 82,907,712 (GRCm39) |
P277Q |
probably damaging |
Het |
Stpg2 |
T |
A |
3: 139,125,463 (GRCm39) |
|
probably benign |
Het |
Tm9sf3 |
A |
C |
19: 41,211,618 (GRCm39) |
N408K |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,758,433 (GRCm39) |
V2049A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,645,077 (GRCm39) |
I11180N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,148,018 (GRCm39) |
C982R |
probably damaging |
Het |
Usp36 |
C |
T |
11: 118,164,392 (GRCm39) |
V207M |
probably damaging |
Het |
Uvrag |
T |
C |
7: 98,767,431 (GRCm39) |
T67A |
probably damaging |
Het |
Vasp |
G |
A |
7: 18,994,903 (GRCm39) |
|
probably benign |
Het |
Vmn2r115 |
T |
C |
17: 23,578,513 (GRCm39) |
F662S |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,366,434 (GRCm39) |
C167S |
probably damaging |
Het |
Vmn2r71 |
C |
A |
7: 85,270,476 (GRCm39) |
N547K |
probably damaging |
Het |
Wasf2 |
A |
G |
4: 132,903,902 (GRCm39) |
I37V |
probably benign |
Het |
Wwc2 |
T |
C |
8: 48,295,937 (GRCm39) |
E1111G |
unknown |
Het |
Zfp317 |
A |
G |
9: 19,558,608 (GRCm39) |
Y274C |
probably damaging |
Het |
Zhx3 |
T |
C |
2: 160,623,195 (GRCm39) |
Y324C |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,754,862 (GRCm39) |
|
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 |
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 |
R4895:Npat
|
UTSW |
9 |
53,481,789 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GCTTGTACACTTAGGACCACAGAGCTA -3'
(R):5'- GTCGGGTTCTCTAACTGCTACTTTCAG -3'
Sequencing Primer
(F):5'- gtttttccattcacttgttttctttc -3'
(R):5'- ttggttttccccgagacag -3'
|
Posted On |
2014-04-24 |