Incidental Mutation 'R6799:Npat'
| ID |
533213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npat
|
| Ensembl Gene |
ENSMUSG00000033054 |
| Gene Name |
nuclear protein in the AT region |
| Synonyms |
|
| MMRRC Submission |
044912-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6799 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
53448347-53485642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53462930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 108
(H108L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035850]
|
| AlphaFold |
Q8BMA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035850
AA Change: H108L
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: H108L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
T |
5: 144,981,624 (GRCm39) |
Y153F |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
| Albfm1 |
A |
G |
5: 90,727,474 (GRCm39) |
H364R |
probably damaging |
Het |
| Anapc1 |
C |
G |
2: 128,501,657 (GRCm39) |
R795T |
probably null |
Het |
| Arhgap18 |
T |
A |
10: 26,725,917 (GRCm39) |
N47K |
possibly damaging |
Het |
| Arhgap26 |
A |
G |
18: 39,232,660 (GRCm39) |
N96D |
probably damaging |
Het |
| Asxl3 |
G |
T |
18: 22,598,457 (GRCm39) |
E191* |
probably null |
Het |
| Cc2d2b |
A |
G |
19: 40,779,652 (GRCm39) |
E697G |
possibly damaging |
Het |
| Chaf1a |
A |
T |
17: 56,354,059 (GRCm39) |
I110F |
unknown |
Het |
| Clca4b |
A |
T |
3: 144,621,388 (GRCm39) |
|
probably null |
Het |
| Dagla |
C |
A |
19: 10,234,214 (GRCm39) |
V366L |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,900,049 (GRCm39) |
N878S |
probably benign |
Het |
| Dapk3 |
A |
G |
10: 81,026,096 (GRCm39) |
Y129C |
probably damaging |
Het |
| Dhx38 |
A |
G |
8: 110,279,834 (GRCm39) |
L952P |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Dscaml1 |
G |
A |
9: 45,361,881 (GRCm39) |
V214I |
probably benign |
Het |
| Dtymk |
A |
G |
1: 93,726,214 (GRCm39) |
L15P |
probably benign |
Het |
| E330034G19Rik |
A |
G |
14: 24,346,178 (GRCm39) |
M30V |
probably benign |
Het |
| Egfr |
G |
A |
11: 16,846,952 (GRCm39) |
C783Y |
probably damaging |
Het |
| Epha8 |
C |
T |
4: 136,672,980 (GRCm39) |
R268Q |
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,453,998 (GRCm39) |
R49S |
probably damaging |
Het |
| Fcsk |
T |
C |
8: 111,620,050 (GRCm39) |
M276V |
probably benign |
Het |
| Gm8797 |
A |
T |
3: 5,816,027 (GRCm39) |
T22S |
probably benign |
Het |
| Hao1 |
T |
C |
2: 134,372,685 (GRCm39) |
S108G |
probably damaging |
Het |
| Hdac4 |
C |
A |
1: 91,929,935 (GRCm39) |
A184S |
probably damaging |
Het |
| Hikeshi |
T |
A |
7: 89,579,553 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,004,757 (GRCm39) |
R452C |
probably benign |
Het |
| Hsdl1 |
T |
C |
8: 120,293,169 (GRCm39) |
S68G |
probably benign |
Het |
| Kctd20 |
T |
C |
17: 29,182,351 (GRCm39) |
|
probably null |
Het |
| Klf11 |
T |
C |
12: 24,705,638 (GRCm39) |
V364A |
possibly damaging |
Het |
| Kpna6 |
A |
G |
4: 129,551,247 (GRCm39) |
L86P |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lpin1 |
T |
A |
12: 16,611,045 (GRCm39) |
N516Y |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,314,248 (GRCm39) |
Y2161C |
probably damaging |
Het |
| Lrrtm3 |
A |
T |
10: 63,923,630 (GRCm39) |
C512* |
probably null |
Het |
| Mfsd1 |
T |
C |
3: 67,507,314 (GRCm39) |
I405T |
probably damaging |
Het |
| Msc |
T |
G |
1: 14,825,491 (GRCm39) |
D161A |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,800,841 (GRCm39) |
I755V |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,419,911 (GRCm39) |
T803A |
probably damaging |
Het |
| Nlrp14 |
A |
G |
7: 106,795,346 (GRCm39) |
I210V |
probably benign |
Het |
| Nt5dc1 |
A |
G |
10: 34,189,703 (GRCm39) |
I329T |
possibly damaging |
Het |
| Or10v5 |
T |
A |
19: 11,806,178 (GRCm39) |
I71F |
possibly damaging |
Het |
| Or51q1c |
T |
A |
7: 103,648,006 (GRCm39) |
|
probably null |
Het |
| Or8b35 |
T |
C |
9: 37,904,478 (GRCm39) |
L230P |
possibly damaging |
Het |
| Parm1 |
C |
T |
5: 91,742,070 (GRCm39) |
T146I |
possibly damaging |
Het |
| Parp2 |
T |
C |
14: 51,058,553 (GRCm39) |
Y528H |
probably damaging |
Het |
| Pias1 |
G |
T |
9: 62,789,334 (GRCm39) |
S624R |
probably benign |
Het |
| Ppif |
A |
G |
14: 25,696,488 (GRCm39) |
H95R |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Psg20 |
A |
G |
7: 18,418,345 (GRCm39) |
Y141H |
probably benign |
Het |
| Pygm |
A |
T |
19: 6,448,157 (GRCm39) |
Y733F |
probably damaging |
Het |
| Rcc1l |
A |
T |
5: 134,205,552 (GRCm39) |
M1K |
probably null |
Het |
| Rfpl4b |
T |
C |
10: 38,697,341 (GRCm39) |
K87E |
possibly damaging |
Het |
| Rnf113a1 |
A |
C |
X: 36,455,840 (GRCm39) |
T266P |
probably benign |
Het |
| Scn5a |
A |
C |
9: 119,324,688 (GRCm39) |
I1380S |
possibly damaging |
Het |
| Sel1l |
A |
G |
12: 91,781,742 (GRCm39) |
|
probably null |
Het |
| Slc18a1 |
T |
A |
8: 69,493,633 (GRCm39) |
I400L |
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,246,958 (GRCm39) |
S73P |
probably damaging |
Het |
| Slc9a5 |
A |
T |
8: 106,090,600 (GRCm39) |
N685I |
possibly damaging |
Het |
| Tnc |
C |
T |
4: 63,883,841 (GRCm39) |
R1868H |
probably benign |
Het |
| Trdmt1 |
A |
G |
2: 13,520,824 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
G |
T |
7: 4,136,221 (GRCm39) |
|
probably null |
Het |
| Tyms |
A |
T |
5: 30,266,069 (GRCm39) |
D283E |
probably benign |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,798 (GRCm39) |
Y259F |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r88 |
C |
A |
14: 51,651,426 (GRCm39) |
Q255K |
probably benign |
Het |
| Vmn2r95 |
C |
T |
17: 18,659,555 (GRCm39) |
P100S |
probably damaging |
Het |
| Zfp128 |
A |
T |
7: 12,624,826 (GRCm39) |
H398L |
possibly damaging |
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 |
|
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'- GTTGAATACCCCAAAGACATGTAGAC -3'
(R):5'- AGGATGCTACCACTTGACATGC -3'
Sequencing Primer
(F):5'- GACTCTTTATCTGAGGAAAATTGCC -3'
(R):5'- TTGCTGAGCATTAAATCCAGGGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation