Incidental Mutation 'R4764:Npat'
| ID |
357105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npat
|
| Ensembl Gene |
ENSMUSG00000033054 |
| Gene Name |
nuclear protein in the AT region |
| Synonyms |
|
| MMRRC Submission |
042405-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4764 (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 53483920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 1412
(F1412S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035850]
|
| AlphaFold |
Q8BMA5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035850
AA Change: F1412S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: F1412S
| 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 |
0.6611 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
G |
5: 146,122,029 (GRCm39) |
S18R |
probably benign |
Het |
| 2010315B03Rik |
A |
C |
9: 124,056,396 (GRCm39) |
V176G |
probably benign |
Het |
| Abcb1a |
T |
A |
5: 8,765,732 (GRCm39) |
|
probably null |
Het |
| Acad11 |
C |
A |
9: 103,953,076 (GRCm39) |
P102T |
probably damaging |
Het |
| Aggf1 |
T |
A |
13: 95,501,221 (GRCm39) |
D387V |
probably damaging |
Het |
| Akr1c13 |
G |
A |
13: 4,248,496 (GRCm39) |
V234I |
probably benign |
Het |
| Alg5 |
A |
G |
3: 54,653,894 (GRCm39) |
Y210C |
possibly damaging |
Het |
| Arl8a |
C |
A |
1: 135,074,837 (GRCm39) |
A41E |
probably benign |
Het |
| Axin1 |
C |
A |
17: 26,392,730 (GRCm39) |
T337K |
possibly damaging |
Het |
| Bdp1 |
A |
G |
13: 100,192,775 (GRCm39) |
L1353P |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,934,520 (GRCm39) |
V2851E |
probably damaging |
Het |
| C9 |
A |
T |
15: 6,489,124 (GRCm39) |
E160D |
probably damaging |
Het |
| Cbx6 |
T |
C |
15: 79,712,881 (GRCm39) |
D182G |
probably damaging |
Het |
| Cep57l1 |
T |
C |
10: 41,597,678 (GRCm39) |
R242G |
possibly damaging |
Het |
| Chst8 |
T |
C |
7: 34,375,149 (GRCm39) |
D230G |
probably damaging |
Het |
| Col3a1 |
A |
C |
1: 45,385,270 (GRCm39) |
D129A |
probably damaging |
Het |
| Cst12 |
A |
G |
2: 148,631,393 (GRCm39) |
E38G |
possibly damaging |
Het |
| Disp1 |
G |
T |
1: 182,869,660 (GRCm39) |
A920E |
probably damaging |
Het |
| Dtna |
T |
G |
18: 23,668,206 (GRCm39) |
|
probably null |
Het |
| Elp3 |
T |
A |
14: 65,820,378 (GRCm39) |
H97L |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,624,314 (GRCm39) |
F18L |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,314,769 (GRCm39) |
T138A |
probably benign |
Het |
| Foxi2 |
G |
T |
7: 135,012,396 (GRCm39) |
G95C |
probably damaging |
Het |
| Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,907,426 (GRCm39) |
D811E |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,608,259 (GRCm39) |
E709V |
probably damaging |
Het |
| Fscn3 |
T |
A |
6: 28,436,200 (GRCm39) |
*499K |
probably null |
Het |
| Galc |
C |
T |
12: 98,209,003 (GRCm39) |
G217D |
possibly damaging |
Het |
| Gm5592 |
G |
T |
7: 40,865,542 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
T |
G |
3: 36,064,809 (GRCm39) |
*521C |
probably null |
Het |
| Hnrnpul1 |
A |
G |
7: 25,442,436 (GRCm39) |
S269P |
probably benign |
Het |
| Hrh1 |
T |
C |
6: 114,457,496 (GRCm39) |
V259A |
probably benign |
Het |
| Lef1 |
T |
C |
3: 130,978,382 (GRCm39) |
S167P |
probably benign |
Het |
| Mtf2 |
T |
C |
5: 108,241,218 (GRCm39) |
I248T |
probably benign |
Het |
| Muc2 |
C |
T |
7: 141,299,345 (GRCm39) |
T130M |
possibly damaging |
Het |
| Myo16 |
T |
C |
8: 10,485,880 (GRCm39) |
F653S |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,250,417 (GRCm39) |
|
probably null |
Het |
| Myo5a |
G |
T |
9: 75,023,618 (GRCm39) |
|
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,073,489 (GRCm39) |
D118V |
probably damaging |
Het |
| Onecut3 |
G |
T |
10: 80,331,541 (GRCm39) |
A234S |
unknown |
Het |
| Or1ad1 |
G |
A |
11: 50,875,602 (GRCm39) |
E25K |
probably benign |
Het |
| Or8b37 |
T |
G |
9: 37,959,436 (GRCm39) |
L306R |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,376,344 (GRCm39) |
I73K |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,937,943 (GRCm39) |
T1884I |
probably benign |
Het |
| Pax6 |
C |
A |
2: 105,526,847 (GRCm39) |
P251Q |
probably benign |
Het |
| Pias4 |
A |
G |
10: 80,999,868 (GRCm39) |
Y62H |
possibly damaging |
Het |
| Pknox1 |
T |
A |
17: 31,809,687 (GRCm39) |
V97D |
possibly damaging |
Het |
| Plekhf1 |
A |
G |
7: 37,921,022 (GRCm39) |
V182A |
probably damaging |
Het |
| Plscr4 |
T |
C |
9: 92,366,833 (GRCm39) |
V149A |
probably damaging |
Het |
| Polr2l |
A |
T |
7: 141,053,309 (GRCm39) |
L35Q |
probably damaging |
Het |
| Ppp3ca |
T |
C |
3: 136,596,250 (GRCm39) |
I305T |
probably damaging |
Het |
| Ptprg |
G |
A |
14: 12,122,068 (GRCm38) |
A311T |
probably benign |
Het |
| Raet1e |
T |
G |
10: 22,057,231 (GRCm39) |
I185R |
probably damaging |
Het |
| Rims1 |
A |
C |
1: 22,518,543 (GRCm39) |
V520G |
probably damaging |
Het |
| Rp1 |
A |
T |
1: 4,416,101 (GRCm39) |
D1670E |
probably damaging |
Het |
| Rps6ka1 |
A |
T |
4: 133,587,868 (GRCm39) |
I352N |
probably damaging |
Het |
| Rtp3 |
T |
C |
9: 110,816,418 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,563,376 (GRCm39) |
|
probably null |
Het |
| Sall3 |
A |
G |
18: 81,017,691 (GRCm39) |
V79A |
probably damaging |
Het |
| Sdsl |
C |
T |
5: 120,600,119 (GRCm39) |
V93M |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,819,390 (GRCm39) |
N197D |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,709,483 (GRCm39) |
R137* |
probably null |
Het |
| Stxbp5 |
C |
A |
10: 9,646,367 (GRCm39) |
R115L |
probably damaging |
Het |
| Tcea1 |
G |
A |
1: 4,965,167 (GRCm39) |
R290H |
probably damaging |
Het |
| Tmem132e |
A |
T |
11: 82,325,338 (GRCm39) |
T113S |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,398,458 (GRCm39) |
I286N |
probably damaging |
Het |
| Trio |
G |
A |
15: 27,732,624 (GRCm39) |
R3086* |
probably null |
Het |
| Usp22 |
T |
A |
11: 61,051,462 (GRCm39) |
N294Y |
probably damaging |
Het |
| Usp44 |
T |
A |
10: 93,681,933 (GRCm39) |
S128T |
probably benign |
Het |
| Zc3h7b |
T |
C |
15: 81,653,384 (GRCm39) |
|
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,304,372 (GRCm39) |
Y1204C |
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 |
|
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'- AAAACCTGTCTGTCTTTCCCTATGG -3'
(R):5'- GCTGCTTCAGAAACAGCATG -3'
Sequencing Primer
(F):5'- GCCTAATACGGTGTTTTAGGT -3'
(R):5'- GCTGCTTCAGAAACAGCATGACTTAG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation