Incidental Mutation 'R2019:Npat'
| ID |
223649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Npat
|
| Ensembl Gene |
ENSMUSG00000033054 |
| Gene Name |
nuclear protein in the AT region |
| Synonyms |
|
| MMRRC Submission |
040028-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2019 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
53448347-53485642 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53473791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 528
(K528E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035850]
|
| AlphaFold |
Q8BMA5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035850
AA Change: K528E
PolyPhen 2
Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000048709
Gene: ENSMUSG00000033054
AA Change: K528E
| 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 |
0.0606 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
A |
10: 76,293,899 (GRCm39) |
F252L |
possibly damaging |
Het |
| Abcc9 |
G |
A |
6: 142,621,160 (GRCm39) |
L527F |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,498,159 (GRCm39) |
T918A |
probably damaging |
Het |
| Acp3 |
C |
T |
9: 104,201,901 (GRCm39) |
G81R |
probably damaging |
Het |
| Acss3 |
C |
T |
10: 106,772,068 (GRCm39) |
S669N |
probably benign |
Het |
| Akt1 |
T |
C |
12: 112,626,059 (GRCm39) |
N71S |
probably damaging |
Het |
| Amz1 |
G |
T |
5: 140,737,719 (GRCm39) |
M326I |
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,639,140 (GRCm39) |
I1351V |
probably benign |
Het |
| Art2b |
T |
C |
7: 101,229,194 (GRCm39) |
D235G |
probably benign |
Het |
| Ccdc141 |
A |
C |
2: 76,841,909 (GRCm39) |
I1507M |
probably damaging |
Het |
| Dck |
A |
G |
5: 88,921,943 (GRCm39) |
Y135C |
probably damaging |
Het |
| Dmbt1 |
T |
G |
7: 130,712,718 (GRCm39) |
I1563S |
possibly damaging |
Het |
| Dnttip2 |
T |
C |
3: 122,074,393 (GRCm39) |
V610A |
possibly damaging |
Het |
| Efhb |
A |
G |
17: 53,708,505 (GRCm39) |
S722P |
probably damaging |
Het |
| Emx2 |
A |
G |
19: 59,447,771 (GRCm39) |
S42G |
probably benign |
Het |
| Ermard |
C |
T |
17: 15,273,527 (GRCm39) |
R371C |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,476,783 (GRCm39) |
I1943S |
probably damaging |
Het |
| Fignl1 |
T |
C |
11: 11,752,054 (GRCm39) |
K334E |
probably damaging |
Het |
| Fmn1 |
A |
C |
2: 113,194,825 (GRCm39) |
K175T |
unknown |
Het |
| Gm7247 |
A |
T |
14: 51,602,804 (GRCm39) |
M47L |
possibly damaging |
Het |
| Gpalpp1 |
A |
T |
14: 76,348,131 (GRCm39) |
|
probably null |
Het |
| Hc |
A |
C |
2: 34,903,540 (GRCm39) |
F1038C |
probably damaging |
Het |
| Ifngr1 |
A |
T |
10: 19,467,861 (GRCm39) |
M10L |
probably damaging |
Het |
| Irx5 |
T |
G |
8: 93,084,992 (GRCm39) |
Y61D |
probably damaging |
Het |
| Itgax |
A |
G |
7: 127,747,698 (GRCm39) |
H1038R |
probably benign |
Het |
| Jag1 |
C |
T |
2: 136,926,599 (GRCm39) |
E982K |
probably benign |
Het |
| Klhdc9 |
T |
C |
1: 171,186,509 (GRCm39) |
D309G |
probably damaging |
Het |
| Lamp3 |
A |
T |
16: 19,519,961 (GRCm39) |
M74K |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,059,759 (GRCm39) |
L685Q |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Mgat5b |
A |
G |
11: 116,838,174 (GRCm39) |
Y271C |
probably benign |
Het |
| Mtmr6 |
T |
C |
14: 60,536,441 (GRCm39) |
M557T |
probably benign |
Het |
| Myo16 |
T |
C |
8: 10,426,260 (GRCm39) |
L339P |
probably benign |
Het |
| Neb |
G |
T |
2: 52,122,288 (GRCm39) |
Y580* |
probably null |
Het |
| Or1j4 |
A |
T |
2: 36,740,418 (GRCm39) |
Y120F |
possibly damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,737 (GRCm39) |
V111A |
probably damaging |
Het |
| Or5m3 |
A |
T |
2: 85,838,567 (GRCm39) |
Y149F |
probably damaging |
Het |
| Parp8 |
G |
A |
13: 117,004,968 (GRCm39) |
|
probably benign |
Het |
| Phf3 |
G |
A |
1: 30,850,928 (GRCm39) |
T1142M |
probably damaging |
Het |
| Phospho1 |
G |
A |
11: 95,721,932 (GRCm39) |
V201M |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,209,451 (GRCm39) |
F2371L |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,163,641 (GRCm39) |
S1209P |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,787,658 (GRCm39) |
C20* |
probably null |
Het |
| Prdm5 |
C |
A |
6: 65,808,340 (GRCm39) |
N95K |
probably damaging |
Het |
| Prkx |
T |
C |
X: 76,809,010 (GRCm39) |
D270G |
probably damaging |
Het |
| Ptgis |
A |
G |
2: 167,050,199 (GRCm39) |
V310A |
probably damaging |
Het |
| Ptgis |
G |
A |
2: 167,056,730 (GRCm39) |
Q286* |
probably null |
Het |
| Rpf1 |
T |
A |
3: 146,226,976 (GRCm39) |
N59I |
probably damaging |
Het |
| Rpl3l |
A |
C |
17: 24,954,490 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
C |
T |
13: 11,866,074 (GRCm39) |
G292D |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,611,410 (GRCm39) |
N2257K |
probably benign |
Het |
| Sla |
T |
C |
15: 66,654,404 (GRCm39) |
Y278C |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,064,725 (GRCm39) |
D193V |
probably damaging |
Het |
| Spire2 |
T |
C |
8: 124,059,657 (GRCm39) |
C52R |
probably damaging |
Het |
| Tada2b |
T |
C |
5: 36,641,250 (GRCm39) |
Y51C |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,154,853 (GRCm39) |
V1424I |
probably damaging |
Het |
| Tbpl1 |
T |
A |
10: 22,583,576 (GRCm39) |
E131D |
probably damaging |
Het |
| Tgfbrap1 |
A |
G |
1: 43,093,677 (GRCm39) |
|
probably null |
Het |
| Tmem116 |
A |
G |
5: 121,627,317 (GRCm39) |
I151M |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,681,500 (GRCm39) |
D223G |
probably damaging |
Het |
| Trim13 |
T |
A |
14: 61,842,335 (GRCm39) |
C117* |
probably null |
Het |
| Ttn |
C |
G |
2: 76,585,676 (GRCm39) |
D21987H |
probably damaging |
Het |
| Txnrd1 |
G |
A |
10: 82,713,207 (GRCm39) |
V90I |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,137,830 (GRCm39) |
|
probably null |
Het |
| Upp1 |
A |
T |
11: 9,083,240 (GRCm39) |
M111L |
possibly damaging |
Het |
| Vmn2r79 |
G |
T |
7: 86,651,634 (GRCm39) |
L344F |
probably benign |
Het |
| Vps39 |
T |
C |
2: 120,173,708 (GRCm39) |
Y147C |
probably damaging |
Het |
| Wdr59 |
A |
G |
8: 112,193,425 (GRCm39) |
Y666H |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,497,613 (GRCm39) |
|
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 |
|
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 |
53,481,861 (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'- GTTATTCGCCAGTCAGATACCC -3'
(R):5'- GCTCTGCAGTGGAGAGTTATC -3'
Sequencing Primer
(F):5'- TACCCACTGAAGCTGAAGTG -3'
(R):5'- CAGTGGAGAGTTATCTTGGCAATC -3'
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| Posted On |
2014-08-25 |
Incidental Mutation