Incidental Mutation 'R9045:Npat'
| ID |
687996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npat
|
| Ensembl Gene |
ENSMUSG00000033054 |
| Gene Name |
nuclear protein in the AT region |
| Synonyms |
|
| MMRRC Submission |
068872-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9045 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
53448347-53485642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53474776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 856
(N856S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035850]
|
| AlphaFold |
Q8BMA5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035850
AA Change: N856S
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: N856S
| 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 |
0.0935 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.6%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
C |
8: 33,919,362 (GRCm39) |
M61L |
|
Het |
| 9130401M01Rik |
G |
T |
15: 57,892,130 (GRCm39) |
A223E |
possibly damaging |
Het |
| Adgra1 |
T |
G |
7: 139,432,566 (GRCm39) |
L135V |
possibly damaging |
Het |
| Aida |
A |
G |
1: 183,094,940 (GRCm39) |
E127G |
possibly damaging |
Het |
| Ankrd31 |
T |
A |
13: 96,968,034 (GRCm39) |
L557* |
probably null |
Het |
| Atxn7l3 |
T |
A |
11: 102,183,272 (GRCm39) |
T221S |
probably damaging |
Het |
| Bbs7 |
A |
G |
3: 36,666,184 (GRCm39) |
S27P |
probably benign |
Het |
| Cela3b |
A |
T |
4: 137,152,110 (GRCm39) |
C116S |
possibly damaging |
Het |
| Clstn3 |
A |
C |
6: 124,408,921 (GRCm39) |
M909R |
probably damaging |
Het |
| Cnot2 |
T |
C |
10: 116,322,160 (GRCm39) |
E523G |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,582,034 (GRCm39) |
T1406S |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,837,680 (GRCm39) |
N763K |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,284,088 (GRCm39) |
F557L |
probably damaging |
Het |
| Cyth1 |
T |
C |
11: 118,073,090 (GRCm39) |
H270R |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 77,992,014 (GRCm39) |
L237P |
probably damaging |
Het |
| Fbxo36 |
G |
A |
1: 84,874,300 (GRCm39) |
D99N |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,856 (GRCm39) |
C1607S |
probably damaging |
Het |
| Flot2 |
A |
G |
11: 77,950,023 (GRCm39) |
I417M |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,182,118 (GRCm39) |
L143P |
|
Het |
| Gckr |
A |
G |
5: 31,457,353 (GRCm39) |
N122S |
possibly damaging |
Het |
| Gm3250 |
T |
A |
10: 77,617,932 (GRCm39) |
T149S |
unknown |
Het |
| Golga3 |
G |
A |
5: 110,340,963 (GRCm39) |
M552I |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,871,356 (GRCm39) |
D694E |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,428,233 (GRCm39) |
V790A |
probably benign |
Het |
| Ighv1-54 |
G |
A |
12: 115,157,500 (GRCm39) |
T49I |
probably benign |
Het |
| Iglv1 |
A |
G |
16: 18,904,053 (GRCm39) |
V22A |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,060,838 (GRCm39) |
Y722F |
|
Het |
| Laptm5 |
A |
T |
4: 130,655,955 (GRCm39) |
E91V |
|
Het |
| Lrig1 |
A |
G |
6: 94,585,688 (GRCm39) |
|
probably null |
Het |
| Mcph1 |
T |
G |
8: 18,682,443 (GRCm39) |
S527A |
probably benign |
Het |
| Med13l |
G |
T |
5: 118,880,816 (GRCm39) |
V1303L |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,295,283 (GRCm39) |
D741G |
probably benign |
Het |
| Myo15b |
T |
A |
11: 115,783,178 (GRCm39) |
*3034R |
probably null |
Het |
| Nfkbie |
A |
T |
17: 45,872,959 (GRCm39) |
K354I |
probably damaging |
Het |
| Nr2c2ap |
A |
G |
8: 70,585,808 (GRCm39) |
D122G |
probably damaging |
Het |
| Nr4a3 |
C |
A |
4: 48,067,694 (GRCm39) |
T430K |
possibly damaging |
Het |
| Or12e10 |
C |
A |
2: 87,640,416 (GRCm39) |
S84Y |
probably damaging |
Het |
| Or52ab4 |
T |
G |
7: 102,987,903 (GRCm39) |
I214R |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,365 (GRCm39) |
S203P |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,059,895 (GRCm39) |
K397E |
probably benign |
Het |
| Pafah1b3 |
G |
T |
7: 24,996,898 (GRCm39) |
|
probably benign |
Het |
| Pcdhgc3 |
G |
T |
18: 37,940,669 (GRCm39) |
V357L |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,152,498 (GRCm39) |
T354A |
unknown |
Het |
| Pira12 |
A |
G |
7: 3,897,547 (GRCm39) |
I516T |
possibly damaging |
Het |
| Rbfa |
T |
C |
18: 80,236,026 (GRCm39) |
H241R |
probably damaging |
Het |
| Rhox3c |
C |
T |
X: 36,651,303 (GRCm39) |
|
probably benign |
Het |
| Rps6ka1 |
C |
T |
4: 133,600,150 (GRCm39) |
|
probably benign |
Het |
| S1pr2 |
T |
C |
9: 20,878,890 (GRCm39) |
T313A |
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,543,720 (GRCm39) |
V273A |
probably benign |
Het |
| Scg3 |
T |
C |
9: 75,570,522 (GRCm39) |
N344S |
probably damaging |
Het |
| Serpinb1c |
C |
G |
13: 33,066,027 (GRCm39) |
G306A |
probably benign |
Het |
| Sh2d6 |
C |
T |
6: 72,492,604 (GRCm39) |
G206D |
probably benign |
Het |
| Slamf9 |
G |
A |
1: 172,304,938 (GRCm39) |
S184N |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,176,042 (GRCm39) |
T168A |
probably damaging |
Het |
| Tas2r124 |
G |
C |
6: 132,732,034 (GRCm39) |
W114C |
probably damaging |
Het |
| Tgm4 |
C |
T |
9: 122,877,616 (GRCm39) |
T206I |
possibly damaging |
Het |
| Tmem52 |
A |
G |
4: 155,553,899 (GRCm39) |
|
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,880,841 (GRCm39) |
K61E |
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,487,087 (GRCm39) |
I603V |
probably benign |
Het |
| Vstm2l |
G |
T |
2: 157,756,795 (GRCm39) |
G22V |
unknown |
Het |
| Vwa5b1 |
T |
A |
4: 138,315,990 (GRCm39) |
Y584F |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 101,995,040 (GRCm39) |
V3233D |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,511,409 (GRCm39) |
V101A |
probably benign |
Het |
| Zfc3h1 |
C |
A |
10: 115,263,319 (GRCm39) |
Q1761K |
possibly damaging |
Het |
| Zfp180 |
G |
A |
7: 23,804,315 (GRCm39) |
V245I |
probably benign |
Het |
| Zfp846 |
A |
T |
9: 20,505,189 (GRCm39) |
I350L |
probably benign |
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 |
|
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 |
|
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'- TTGAAGTAGGGGATTCCGGC -3'
(R):5'- CCTCCGATATGCTTTTACAAGTTAC -3'
Sequencing Primer
(F):5'- CTCCATGGAGCAGAACCTTTTAGTG -3'
(R):5'- CCTTGTGAAAAGTTTGGCGACAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation