Incidental Mutation 'R9723:Npat'
ID |
730929 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Npat
|
Ensembl Gene |
ENSMUSG00000033054 |
Gene Name |
nuclear protein in the AT region |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9723 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
53448347-53485642 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 53481861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Valine
at position 1190
(L1190V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035850]
|
AlphaFold |
Q8BMA5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035850
AA Change: L1190V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048709 Gene: ENSMUSG00000033054 AA Change: L1190V
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
G |
A |
1: 75,156,366 (GRCm39) |
R133W |
probably benign |
Het |
Abcc3 |
T |
A |
11: 94,250,725 (GRCm39) |
T877S |
probably benign |
Het |
Alb |
A |
T |
5: 90,611,962 (GRCm39) |
K130N |
probably damaging |
Het |
Alkbh8 |
G |
A |
9: 3,385,283 (GRCm39) |
S560N |
probably benign |
Het |
Angel2 |
T |
G |
1: 190,671,342 (GRCm39) |
L234R |
probably damaging |
Het |
Catip |
C |
T |
1: 74,403,745 (GRCm39) |
T154I |
probably benign |
Het |
Ccdc163 |
C |
T |
4: 116,569,595 (GRCm39) |
Q102* |
probably null |
Het |
Cep250 |
A |
G |
2: 155,823,337 (GRCm39) |
E997G |
probably benign |
Het |
Ces2f |
T |
C |
8: 105,677,463 (GRCm39) |
I183T |
possibly damaging |
Het |
Commd8 |
A |
G |
5: 72,318,309 (GRCm39) |
V158A |
possibly damaging |
Het |
Cyp2b9 |
C |
T |
7: 25,909,596 (GRCm39) |
Q455* |
probably null |
Het |
D5Ertd579e |
G |
T |
5: 36,772,284 (GRCm39) |
H704N |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 30,987,946 (GRCm39) |
T3491A |
probably damaging |
Het |
Dnai1 |
T |
G |
4: 41,603,302 (GRCm39) |
F195C |
possibly damaging |
Het |
Dock7 |
A |
G |
4: 98,908,270 (GRCm39) |
V620A |
|
Het |
Dock7 |
A |
T |
4: 98,960,660 (GRCm39) |
D289E |
|
Het |
Dpys |
T |
A |
15: 39,691,509 (GRCm39) |
E271V |
probably damaging |
Het |
Elovl3 |
T |
C |
19: 46,123,155 (GRCm39) |
Y244H |
probably damaging |
Het |
Enam |
G |
A |
5: 88,652,241 (GRCm39) |
G1250E |
probably damaging |
Het |
Espl1 |
C |
T |
15: 102,229,170 (GRCm39) |
T1774M |
probably benign |
Het |
Fasl |
T |
C |
1: 161,615,535 (GRCm39) |
K107R |
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,202,119 (GRCm39) |
C1251* |
probably null |
Het |
Fn1 |
G |
T |
1: 71,663,369 (GRCm39) |
Q1040K |
possibly damaging |
Het |
Frem3 |
C |
T |
8: 81,341,352 (GRCm39) |
S1215L |
probably benign |
Het |
G3bp2 |
A |
T |
5: 92,214,388 (GRCm39) |
D135E |
possibly damaging |
Het |
Gabpb1 |
C |
T |
2: 126,488,648 (GRCm39) |
V240I |
probably benign |
Het |
Galnt12 |
C |
G |
4: 47,119,541 (GRCm39) |
Y452* |
probably null |
Het |
Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
Gm12258 |
C |
T |
11: 58,750,448 (GRCm39) |
P541L |
unknown |
Het |
Gm12789 |
T |
A |
4: 101,846,083 (GRCm39) |
W115R |
possibly damaging |
Het |
Gm8126 |
T |
C |
14: 43,119,141 (GRCm39) |
|
probably null |
Het |
Gpr179 |
A |
T |
11: 97,225,546 (GRCm39) |
L2203H |
possibly damaging |
Het |
H1f6 |
A |
G |
13: 23,879,906 (GRCm39) |
K20E |
probably damaging |
Het |
Hapln3 |
A |
T |
7: 78,771,736 (GRCm39) |
V51E |
possibly damaging |
Het |
Ifit1 |
A |
G |
19: 34,626,257 (GRCm39) |
*464W |
probably null |
Het |
Il1r1 |
A |
C |
1: 40,332,721 (GRCm39) |
I137L |
probably benign |
Het |
Il1rap |
T |
A |
16: 26,442,907 (GRCm39) |
M1K |
probably null |
Het |
Lgi2 |
A |
G |
5: 52,695,843 (GRCm39) |
L372P |
probably damaging |
Het |
Lrrc46 |
A |
G |
11: 96,925,773 (GRCm39) |
S230P |
possibly damaging |
Het |
Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
Mapk8ip3 |
C |
A |
17: 25,132,585 (GRCm39) |
W339L |
possibly damaging |
Het |
Msln |
A |
T |
17: 25,969,008 (GRCm39) |
M459K |
possibly damaging |
Het |
Msr1 |
A |
G |
8: 40,042,357 (GRCm39) |
V406A |
possibly damaging |
Het |
Ndst2 |
G |
T |
14: 20,775,512 (GRCm39) |
D659E |
probably benign |
Het |
Npc1 |
A |
G |
18: 12,343,649 (GRCm39) |
I448T |
probably benign |
Het |
Omd |
T |
C |
13: 49,743,838 (GRCm39) |
F296S |
probably damaging |
Het |
Oprm1 |
A |
G |
10: 6,788,514 (GRCm39) |
N423S |
possibly damaging |
Het |
Oxtr |
G |
A |
6: 112,466,304 (GRCm39) |
T152I |
probably benign |
Het |
Pak2 |
A |
T |
16: 31,852,650 (GRCm39) |
V297E |
probably damaging |
Het |
Pcnx4 |
T |
C |
12: 72,603,039 (GRCm39) |
Y434H |
probably damaging |
Het |
Pet100 |
G |
A |
8: 3,672,374 (GRCm39) |
M20I |
probably damaging |
Het |
Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
Plekhn1 |
A |
G |
4: 156,306,875 (GRCm39) |
S505P |
probably benign |
Het |
Plin5 |
G |
A |
17: 56,423,290 (GRCm39) |
A90V |
probably damaging |
Het |
Poc5 |
A |
G |
13: 96,551,026 (GRCm39) |
T526A |
probably benign |
Het |
Potefam1 |
T |
C |
2: 111,058,700 (GRCm39) |
H84R |
probably damaging |
Het |
Pramel7 |
C |
T |
2: 87,320,019 (GRCm39) |
V425I |
possibly damaging |
Het |
Rad51d |
A |
T |
11: 82,781,162 (GRCm39) |
|
probably null |
Het |
Rbp3 |
T |
C |
14: 33,677,474 (GRCm39) |
M474T |
possibly damaging |
Het |
Rcan3 |
A |
G |
4: 135,152,680 (GRCm39) |
S14P |
probably benign |
Het |
Rps6ka4 |
A |
T |
19: 6,816,663 (GRCm39) |
V140E |
probably damaging |
Het |
Rsbn1l |
G |
A |
5: 21,101,464 (GRCm39) |
S692L |
possibly damaging |
Het |
Sgk1 |
A |
T |
10: 21,872,239 (GRCm39) |
I272F |
probably damaging |
Het |
Skor1 |
A |
G |
9: 63,053,714 (GRCm39) |
V85A |
probably damaging |
Het |
Slc12a1 |
A |
T |
2: 125,059,827 (GRCm39) |
D909V |
probably damaging |
Het |
Slc25a18 |
C |
A |
6: 120,770,489 (GRCm39) |
A283E |
probably benign |
Het |
Slc41a1 |
T |
C |
1: 131,772,103 (GRCm39) |
L411P |
possibly damaging |
Het |
Spata13 |
T |
C |
14: 60,928,498 (GRCm39) |
S19P |
probably damaging |
Het |
Stab1 |
T |
A |
14: 30,885,848 (GRCm39) |
H42L |
probably benign |
Het |
Stag3 |
T |
A |
5: 138,298,103 (GRCm39) |
D698E |
probably benign |
Het |
Syngap1 |
G |
A |
17: 27,189,510 (GRCm39) |
R1305H |
possibly damaging |
Het |
Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
Trappc9 |
A |
G |
15: 72,461,963 (GRCm39) |
Y1101H |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,601,929 (GRCm39) |
Y10251H |
probably damaging |
Het |
Uhrf1 |
A |
G |
17: 56,625,061 (GRCm39) |
K535E |
probably damaging |
Het |
Usp14 |
G |
T |
18: 10,009,993 (GRCm39) |
Q185K |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,935,536 (GRCm39) |
Y413* |
probably null |
Het |
Uvssa |
G |
A |
5: 33,547,382 (GRCm39) |
|
probably null |
Het |
Vmn1r177 |
A |
T |
7: 23,565,774 (GRCm39) |
L34Q |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,151,671 (GRCm39) |
L277P |
probably damaging |
Het |
Zc2hc1b |
T |
A |
10: 13,044,497 (GRCm39) |
L55F |
probably damaging |
Het |
Zfp345 |
A |
C |
2: 150,314,189 (GRCm39) |
Y449* |
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 |
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 |
53,473,746 (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'- CAGAAACTGCCTCTAGTCGAC -3'
(R):5'- AAGTCAGTATCGGCACTCCTATTG -3'
Sequencing Primer
(F):5'- TGCCTCTAGTCGACACACC -3'
(R):5'- ATCGGCACTCCTATTGGCTGG -3'
|
Posted On |
2022-10-06 |