Incidental Mutation 'R3816:Npat'
| ID |
274318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npat
|
| Ensembl Gene |
ENSMUSG00000033054 |
| Gene Name |
nuclear protein in the AT region |
| Synonyms |
|
| MMRRC Submission |
040881-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3816 (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 53481216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1008
(S1008P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035850]
|
| AlphaFold |
Q8BMA5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035850
AA Change: S1008P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: S1008P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148336
|
| Meta Mutation Damage Score |
0.0609 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
A |
G |
2: 25,336,083 (GRCm39) |
Y2151C |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,853,123 (GRCm39) |
H509L |
probably damaging |
Het |
| Agfg2 |
T |
C |
5: 137,652,036 (GRCm39) |
D441G |
probably benign |
Het |
| Arl8b |
T |
A |
6: 108,790,658 (GRCm39) |
V65D |
probably damaging |
Het |
| As3mt |
A |
T |
19: 46,696,216 (GRCm39) |
D8V |
probably benign |
Het |
| Ass1 |
G |
T |
2: 31,400,117 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,972,451 (GRCm39) |
I634V |
possibly damaging |
Het |
| Cflar |
T |
C |
1: 58,791,582 (GRCm39) |
V298A |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Dlec1 |
C |
T |
9: 118,953,911 (GRCm39) |
A610V |
probably damaging |
Het |
| Dock1 |
C |
T |
7: 134,346,015 (GRCm39) |
R186* |
probably null |
Het |
| E130018O15Rik |
T |
C |
5: 35,540,110 (GRCm39) |
|
noncoding transcript |
Het |
| Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
| Gipc2 |
T |
C |
3: 151,871,481 (GRCm39) |
K15R |
probably benign |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Glipr2 |
G |
T |
4: 43,977,522 (GRCm39) |
A51S |
possibly damaging |
Het |
| Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
| H2-M10.2 |
A |
T |
17: 36,597,254 (GRCm39) |
Y20* |
probably null |
Het |
| Hapstr1 |
T |
A |
16: 8,648,358 (GRCm39) |
I12N |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 93,933,947 (GRCm39) |
V242A |
probably benign |
Het |
| Ifi44 |
T |
C |
3: 151,454,894 (GRCm39) |
I110M |
possibly damaging |
Het |
| Il18r1 |
T |
C |
1: 40,526,132 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Khk |
T |
C |
5: 31,084,060 (GRCm39) |
S80P |
probably damaging |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,460,926 (GRCm39) |
V706A |
probably benign |
Het |
| Or2ag18 |
A |
G |
7: 106,405,027 (GRCm39) |
I214T |
probably damaging |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,074,748 (GRCm39) |
Y793C |
probably benign |
Het |
| Pcdhb4 |
A |
T |
18: 37,441,065 (GRCm39) |
D125V |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,212,017 (GRCm39) |
D844G |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,844,834 (GRCm39) |
D1375G |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,063 (GRCm39) |
F276I |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,450,199 (GRCm39) |
D47G |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sall1 |
G |
T |
8: 89,759,303 (GRCm39) |
A267E |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Serpina3k |
A |
G |
12: 104,307,221 (GRCm39) |
E151G |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Slc51b |
A |
G |
9: 65,321,300 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
| Star |
G |
A |
8: 26,299,905 (GRCm39) |
M82I |
probably benign |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,885,210 (GRCm39) |
|
probably null |
Het |
| Vmn2r18 |
T |
C |
5: 151,485,148 (GRCm39) |
N782S |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,399,602 (GRCm39) |
T1028A |
probably benign |
Het |
| Xrn2 |
G |
A |
2: 146,870,120 (GRCm39) |
G270R |
probably damaging |
Het |
| Zbbx |
G |
T |
3: 74,992,802 (GRCm39) |
Q231K |
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 |
|
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'- ATTTCCTCTATAGAGTGTGTGAGTC -3'
(R):5'- TCTCCTGAGAGGGAAATCGTG -3'
Sequencing Primer
(F):5'- CTGACTCATTCTCTTTCAGA -3'
(R):5'- AGAGGGAAATCGTGGTGTCTTCC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation