Incidental Mutation 'R9511:Npat'
| ID |
718175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npat
|
| Ensembl Gene |
ENSMUSG00000033054 |
| Gene Name |
nuclear protein in the AT region |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
53448347-53485642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53473406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 399
(D399E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035850]
|
| AlphaFold |
Q8BMA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035850
AA Change: D399E
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: D399E
| 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 |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,445,848 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,278,130 (GRCm39) |
S3103R |
probably benign |
Het |
| Alg9 |
A |
C |
9: 50,717,525 (GRCm39) |
Y436S |
probably damaging |
Het |
| Ankar |
G |
A |
1: 72,719,161 (GRCm39) |
R563C |
probably benign |
Het |
| Ankrd34a |
C |
A |
3: 96,505,401 (GRCm39) |
R202S |
probably benign |
Het |
| Art4 |
T |
A |
6: 136,831,613 (GRCm39) |
N176I |
possibly damaging |
Het |
| Bivm |
A |
G |
1: 44,182,250 (GRCm39) |
E486G |
possibly damaging |
Het |
| Ccdc168 |
T |
G |
1: 44,098,854 (GRCm39) |
D748A |
probably benign |
Het |
| Ccdc3 |
C |
A |
2: 5,143,090 (GRCm39) |
Q116K |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,261,372 (GRCm39) |
P1656S |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,034,677 (GRCm39) |
D661G |
probably damaging |
Het |
| Chek1 |
T |
C |
9: 36,624,747 (GRCm39) |
N368S |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,878,352 (GRCm39) |
F3924L |
probably damaging |
Het |
| Dusp7 |
T |
C |
9: 106,248,125 (GRCm39) |
I251T |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,090,650 (GRCm39) |
W988R |
probably damaging |
Het |
| Dzip1l |
T |
C |
9: 99,519,710 (GRCm39) |
V79A |
possibly damaging |
Het |
| Ebf1 |
A |
G |
11: 44,815,393 (GRCm39) |
I344V |
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,776,823 (GRCm39) |
E336G |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,034,802 (GRCm39) |
L2818P |
probably damaging |
Het |
| Gjb3 |
T |
C |
4: 127,220,131 (GRCm39) |
S134G |
probably damaging |
Het |
| Gm10647 |
T |
C |
9: 66,705,756 (GRCm39) |
F108L |
unknown |
Het |
| Gm19410 |
A |
T |
8: 36,257,848 (GRCm39) |
D762V |
probably damaging |
Het |
| Gper1 |
A |
G |
5: 139,412,138 (GRCm39) |
K161R |
probably benign |
Het |
| Grin1 |
A |
G |
2: 25,187,426 (GRCm39) |
M628T |
probably damaging |
Het |
| Gsdmc |
A |
T |
15: 63,649,897 (GRCm39) |
D331E |
probably benign |
Het |
| Haus3 |
C |
A |
5: 34,325,571 (GRCm39) |
W29C |
probably damaging |
Het |
| Il10ra |
T |
C |
9: 45,167,690 (GRCm39) |
E289G |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,361,793 (GRCm39) |
T1133A |
possibly damaging |
Het |
| Ksr1 |
G |
A |
11: 78,924,094 (GRCm39) |
T458M |
possibly damaging |
Het |
| Mc5r |
T |
A |
18: 68,472,565 (GRCm39) |
M308K |
possibly damaging |
Het |
| Mis18a |
T |
C |
16: 90,518,525 (GRCm39) |
S146G |
possibly damaging |
Het |
| Mrpl50 |
G |
A |
4: 49,514,501 (GRCm39) |
R57* |
probably null |
Het |
| Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
| Nanos1 |
T |
A |
19: 60,745,413 (GRCm39) |
I237N |
probably damaging |
Het |
| Ncor1 |
TGC |
TGCGGC |
11: 62,324,449 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,400,555 (GRCm39) |
E450D |
probably damaging |
Het |
| Nek10 |
C |
A |
14: 14,828,511 (GRCm38) |
T111K |
probably benign |
Het |
| Nipal2 |
T |
C |
15: 34,584,833 (GRCm39) |
Y245C |
probably damaging |
Het |
| Opa1 |
A |
G |
16: 29,429,738 (GRCm39) |
S378G |
probably damaging |
Het |
| Or5b102 |
T |
C |
19: 13,041,119 (GRCm39) |
S115P |
probably damaging |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pex16 |
A |
T |
2: 92,209,559 (GRCm39) |
|
probably null |
Het |
| Plec |
A |
T |
15: 76,058,897 (GRCm39) |
I3680N |
probably damaging |
Het |
| Plin3 |
A |
T |
17: 56,591,225 (GRCm39) |
V185E |
probably damaging |
Het |
| Prex1 |
T |
A |
2: 166,413,481 (GRCm39) |
D1512V |
probably damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,792,913 (GRCm39) |
S355T |
probably benign |
Het |
| Ranbp3l |
A |
G |
15: 9,041,991 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,351,611 (GRCm39) |
I790T |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,499,943 (GRCm39) |
F340L |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,828,916 (GRCm39) |
T341A |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,721,921 (GRCm39) |
Y374H |
probably damaging |
Het |
| Slitrk3 |
T |
G |
3: 72,958,272 (GRCm39) |
S167R |
possibly damaging |
Het |
| Smchd1 |
G |
A |
17: 71,750,899 (GRCm39) |
H340Y |
possibly damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,666,521 (GRCm39) |
R129Q |
probably benign |
Het |
| Sox9 |
A |
G |
11: 112,676,001 (GRCm39) |
T397A |
possibly damaging |
Het |
| Tnpo1 |
C |
A |
13: 99,003,621 (GRCm39) |
R245L |
possibly damaging |
Het |
| Traip |
T |
A |
9: 107,838,785 (GRCm39) |
M183K |
probably damaging |
Het |
| Trpc6 |
A |
T |
9: 8,680,419 (GRCm39) |
E882D |
probably benign |
Het |
| Uba6 |
C |
A |
5: 86,288,219 (GRCm39) |
G491V |
probably damaging |
Het |
| Uqcrfs1 |
A |
T |
13: 30,729,037 (GRCm39) |
V65E |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,668,128 (GRCm39) |
D113G |
probably damaging |
Het |
| Wdr76 |
C |
T |
2: 121,372,976 (GRCm39) |
T503M |
probably damaging |
Het |
| Zfp27 |
T |
C |
7: 29,593,641 (GRCm39) |
T775A |
possibly damaging |
Het |
| Zfp518b |
A |
T |
5: 38,829,395 (GRCm39) |
V870E |
possibly damaging |
Het |
| Zfp932 |
T |
A |
5: 110,155,177 (GRCm39) |
H63Q |
possibly damaging |
Het |
| Zkscan6 |
C |
A |
11: 65,712,817 (GRCm39) |
T250N |
probably damaging |
Het |
| Zmat2 |
A |
T |
18: 36,930,958 (GRCm39) |
K161N |
possibly damaging |
Het |
| Zyg11a |
A |
G |
4: 108,062,420 (GRCm39) |
L127P |
probably 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 |
|
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 |
|
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'- GACAGTTGTTTACAAAACTGTCTGC -3'
(R):5'- TCCTCTTTGGTTAAAGTCACTCAAG -3'
Sequencing Primer
(F):5'- AGAATGGAAGTAATTATGTGTCAGTC -3'
(R):5'- CTCAAGTTAGACACAGACTCAAGGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation