Incidental Mutation 'R6393:N4bp2'
ID |
515865 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
N4bp2
|
Ensembl Gene |
ENSMUSG00000037795 |
Gene Name |
NEDD4 binding protein 2 |
Synonyms |
LOC333789, B3bp, LOC386488 |
MMRRC Submission |
044542-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
R6393 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
65920864-65987451 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65948344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 325
(S325P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087264]
[ENSMUST00000201489]
[ENSMUST00000201615]
|
AlphaFold |
F8VQG7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087264
AA Change: S325P
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000084519 Gene: ENSMUSG00000037795 AA Change: S325P
Domain | Start | End | E-Value | Type |
low complexity region
|
109 |
130 |
N/A |
INTRINSIC |
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
Pfam:AAA_33
|
365 |
499 |
1.1e-15 |
PFAM |
low complexity region
|
533 |
546 |
N/A |
INTRINSIC |
low complexity region
|
619 |
629 |
N/A |
INTRINSIC |
low complexity region
|
681 |
692 |
N/A |
INTRINSIC |
low complexity region
|
847 |
864 |
N/A |
INTRINSIC |
low complexity region
|
1079 |
1090 |
N/A |
INTRINSIC |
Blast:CUE
|
1430 |
1472 |
1e-9 |
BLAST |
low complexity region
|
1496 |
1511 |
N/A |
INTRINSIC |
DUF1771
|
1526 |
1591 |
1.88e-21 |
SMART |
SMR
|
1596 |
1678 |
1.09e-14 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201489
AA Change: S325P
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143807 Gene: ENSMUSG00000037795 AA Change: S325P
Domain | Start | End | E-Value | Type |
low complexity region
|
109 |
130 |
N/A |
INTRINSIC |
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
Pfam:AAA_33
|
365 |
499 |
1e-14 |
PFAM |
low complexity region
|
533 |
546 |
N/A |
INTRINSIC |
low complexity region
|
619 |
629 |
N/A |
INTRINSIC |
low complexity region
|
681 |
692 |
N/A |
INTRINSIC |
low complexity region
|
847 |
864 |
N/A |
INTRINSIC |
low complexity region
|
1079 |
1090 |
N/A |
INTRINSIC |
Blast:CUE
|
1430 |
1472 |
1e-9 |
BLAST |
low complexity region
|
1496 |
1511 |
N/A |
INTRINSIC |
DUF1771
|
1526 |
1591 |
1.88e-21 |
SMART |
SMR
|
1596 |
1678 |
1.09e-14 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201615
AA Change: S325P
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000144278 Gene: ENSMUSG00000037795 AA Change: S325P
Domain | Start | End | E-Value | Type |
low complexity region
|
109 |
130 |
N/A |
INTRINSIC |
low complexity region
|
271 |
283 |
N/A |
INTRINSIC |
Pfam:AAA_33
|
365 |
499 |
1.2e-14 |
PFAM |
low complexity region
|
533 |
546 |
N/A |
INTRINSIC |
low complexity region
|
619 |
629 |
N/A |
INTRINSIC |
low complexity region
|
681 |
692 |
N/A |
INTRINSIC |
low complexity region
|
847 |
864 |
N/A |
INTRINSIC |
low complexity region
|
1079 |
1090 |
N/A |
INTRINSIC |
Blast:CUE
|
1430 |
1472 |
8e-10 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202934
|
Meta Mutation Damage Score |
0.0849 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
Validation Efficiency |
99% (70/71) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
|
Allele List at MGI |
All alleles(9) : Targeted, other(2) Gene trapped(7)
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
A |
G |
1: 192,856,690 (GRCm39) |
Q14R |
possibly damaging |
Het |
Adamts12 |
A |
G |
15: 11,255,721 (GRCm39) |
D430G |
probably damaging |
Het |
Agxt2 |
T |
C |
15: 10,393,894 (GRCm39) |
|
probably null |
Het |
Akirin1 |
T |
G |
4: 123,637,324 (GRCm39) |
Q87P |
possibly damaging |
Het |
Ank2 |
G |
A |
3: 126,723,406 (GRCm39) |
R974C |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,354,498 (GRCm39) |
I804V |
probably damaging |
Het |
Arhgef28 |
A |
T |
13: 98,130,527 (GRCm39) |
L437Q |
possibly damaging |
Het |
Atp8a2 |
G |
T |
14: 60,011,204 (GRCm39) |
Y967* |
probably null |
Het |
Calcr |
A |
G |
6: 3,708,586 (GRCm39) |
L200S |
probably damaging |
Het |
Ccdc80 |
T |
A |
16: 44,916,828 (GRCm39) |
V528D |
possibly damaging |
Het |
Chd6 |
A |
G |
2: 160,821,407 (GRCm39) |
Y1296H |
probably damaging |
Het |
Chst13 |
G |
A |
6: 90,302,063 (GRCm39) |
R28C |
possibly damaging |
Het |
Clrn1 |
A |
G |
3: 58,753,741 (GRCm39) |
F207L |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,562,767 (GRCm39) |
T1772A |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,360,491 (GRCm39) |
T1744A |
probably benign |
Het |
Dchs2 |
A |
G |
3: 83,037,218 (GRCm39) |
E655G |
probably damaging |
Het |
Dnajb3 |
T |
A |
1: 88,133,384 (GRCm39) |
E6V |
possibly damaging |
Het |
Dock5 |
G |
A |
14: 68,060,051 (GRCm39) |
P463S |
probably benign |
Het |
Eif4a3l1 |
A |
G |
6: 136,305,596 (GRCm39) |
K19R |
probably benign |
Het |
Fancd2 |
T |
A |
6: 113,555,374 (GRCm39) |
C1128S |
probably benign |
Het |
Fcrl5 |
G |
A |
3: 87,355,634 (GRCm39) |
G449E |
probably damaging |
Het |
Frem2 |
G |
T |
3: 53,493,061 (GRCm39) |
N1818K |
possibly damaging |
Het |
Gm21149 |
C |
A |
5: 15,678,037 (GRCm39) |
V187L |
possibly damaging |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Gstm7 |
A |
G |
3: 107,838,142 (GRCm39) |
|
probably null |
Het |
Htr1b |
T |
A |
9: 81,513,810 (GRCm39) |
I266F |
probably benign |
Het |
Jakmip3 |
T |
C |
7: 138,620,900 (GRCm39) |
I305T |
probably damaging |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Kifc5b |
T |
C |
17: 27,140,816 (GRCm39) |
C97R |
probably benign |
Het |
Klhl30 |
A |
T |
1: 91,288,912 (GRCm39) |
H557L |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,612,813 (GRCm39) |
V1199A |
probably benign |
Het |
Lmbr1 |
A |
G |
5: 29,459,292 (GRCm39) |
L246P |
probably damaging |
Het |
M6pr |
T |
C |
6: 122,292,339 (GRCm39) |
L178P |
possibly damaging |
Het |
Med17 |
A |
G |
9: 15,185,879 (GRCm39) |
S212P |
probably damaging |
Het |
Med23 |
T |
A |
10: 24,749,374 (GRCm39) |
S31T |
possibly damaging |
Het |
Morc2b |
T |
G |
17: 33,356,750 (GRCm39) |
T341P |
probably damaging |
Het |
Mre11a |
A |
G |
9: 14,696,805 (GRCm39) |
M1V |
probably null |
Het |
Mrpl17 |
T |
C |
7: 105,459,122 (GRCm39) |
H158R |
probably benign |
Het |
Mstn |
A |
G |
1: 53,105,648 (GRCm39) |
Q330R |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,558,695 (GRCm39) |
K2533* |
probably null |
Het |
Nadk |
A |
G |
4: 155,673,808 (GRCm39) |
Y399C |
possibly damaging |
Het |
Nbea |
A |
C |
3: 55,998,540 (GRCm39) |
L89R |
probably damaging |
Het |
Ncoa1 |
A |
G |
12: 4,328,181 (GRCm39) |
F775L |
probably benign |
Het |
Ndufa11 |
C |
A |
17: 57,028,331 (GRCm39) |
A70E |
probably damaging |
Het |
Nfx1 |
A |
G |
4: 40,976,851 (GRCm39) |
Y175C |
possibly damaging |
Het |
Or10q3 |
A |
T |
19: 11,848,091 (GRCm39) |
L163Q |
probably damaging |
Het |
Or12e9 |
A |
G |
2: 87,201,909 (GRCm39) |
N11S |
probably damaging |
Het |
Pcsk6 |
T |
C |
7: 65,618,762 (GRCm39) |
S443P |
probably damaging |
Het |
Pcsk9 |
T |
C |
4: 106,304,793 (GRCm39) |
D425G |
probably benign |
Het |
Pdcd1lg2 |
T |
A |
19: 29,414,698 (GRCm39) |
C42S |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Rbm46 |
G |
A |
3: 82,771,262 (GRCm39) |
T451M |
probably benign |
Het |
Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
Rpl7l1 |
T |
C |
17: 47,093,548 (GRCm39) |
E4G |
probably benign |
Het |
Rptn |
A |
G |
3: 93,304,506 (GRCm39) |
E613G |
probably benign |
Het |
Sbk2 |
T |
C |
7: 4,960,621 (GRCm39) |
D183G |
probably damaging |
Het |
Slc15a4 |
C |
T |
5: 127,693,950 (GRCm39) |
A162T |
probably benign |
Het |
Slc30a4 |
A |
G |
2: 122,527,966 (GRCm39) |
W315R |
probably damaging |
Het |
Slc39a14 |
G |
C |
14: 70,547,262 (GRCm39) |
F361L |
probably benign |
Het |
Slc6a13 |
T |
C |
6: 121,313,801 (GRCm39) |
Y515H |
possibly damaging |
Het |
Slitrk3 |
C |
A |
3: 72,957,247 (GRCm39) |
K508N |
possibly damaging |
Het |
Stard4 |
T |
C |
18: 33,338,278 (GRCm39) |
D144G |
probably benign |
Het |
Tlr9 |
T |
C |
9: 106,102,136 (GRCm39) |
F476L |
probably damaging |
Het |
Tshz1 |
A |
T |
18: 84,031,345 (GRCm39) |
V1021D |
probably damaging |
Het |
Vmn1r54 |
A |
T |
6: 90,246,304 (GRCm39) |
I73F |
probably benign |
Het |
Vmn2r19 |
A |
C |
6: 123,293,112 (GRCm39) |
S385R |
possibly damaging |
Het |
Xkr5 |
A |
G |
8: 18,998,716 (GRCm39) |
L34P |
probably damaging |
Het |
Xpo4 |
A |
G |
14: 57,875,770 (GRCm39) |
V121A |
probably damaging |
Het |
Zbtb40 |
T |
A |
4: 136,712,177 (GRCm39) |
H268L |
probably null |
Het |
Zfp865 |
T |
C |
7: 5,033,065 (GRCm39) |
F350S |
probably damaging |
Het |
Zscan4b |
T |
C |
7: 10,634,828 (GRCm39) |
I472V |
possibly damaging |
Het |
|
Other mutations in N4bp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00484:N4bp2
|
APN |
5 |
65,964,867 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01503:N4bp2
|
APN |
5 |
65,960,890 (GRCm39) |
nonsense |
probably null |
0.00 |
IGL01621:N4bp2
|
APN |
5 |
65,948,267 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02109:N4bp2
|
APN |
5 |
65,955,477 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02286:N4bp2
|
APN |
5 |
65,960,895 (GRCm39) |
missense |
probably damaging |
1.00 |
1mM(1):N4bp2
|
UTSW |
5 |
65,965,020 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03046:N4bp2
|
UTSW |
5 |
65,948,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R0164:N4bp2
|
UTSW |
5 |
65,960,916 (GRCm39) |
splice site |
probably benign |
|
R0285:N4bp2
|
UTSW |
5 |
65,963,902 (GRCm39) |
missense |
probably benign |
0.00 |
R0366:N4bp2
|
UTSW |
5 |
65,963,739 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0548:N4bp2
|
UTSW |
5 |
65,965,496 (GRCm39) |
missense |
probably benign |
0.39 |
R0551:N4bp2
|
UTSW |
5 |
65,977,684 (GRCm39) |
splice site |
probably null |
|
R0671:N4bp2
|
UTSW |
5 |
65,964,780 (GRCm39) |
missense |
probably damaging |
0.99 |
R1136:N4bp2
|
UTSW |
5 |
65,965,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R1515:N4bp2
|
UTSW |
5 |
65,947,841 (GRCm39) |
missense |
probably benign |
0.01 |
R1597:N4bp2
|
UTSW |
5 |
65,964,483 (GRCm39) |
missense |
probably benign |
0.45 |
R1628:N4bp2
|
UTSW |
5 |
65,960,915 (GRCm39) |
splice site |
probably null |
|
R1722:N4bp2
|
UTSW |
5 |
65,964,225 (GRCm39) |
missense |
probably benign |
0.08 |
R1735:N4bp2
|
UTSW |
5 |
65,965,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R1745:N4bp2
|
UTSW |
5 |
65,948,165 (GRCm39) |
missense |
probably benign |
0.12 |
R1759:N4bp2
|
UTSW |
5 |
65,983,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R1799:N4bp2
|
UTSW |
5 |
65,964,168 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1846:N4bp2
|
UTSW |
5 |
65,965,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R1872:N4bp2
|
UTSW |
5 |
65,951,861 (GRCm39) |
splice site |
probably benign |
|
R2042:N4bp2
|
UTSW |
5 |
65,983,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R2082:N4bp2
|
UTSW |
5 |
65,964,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R2101:N4bp2
|
UTSW |
5 |
65,948,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R2147:N4bp2
|
UTSW |
5 |
65,966,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R2251:N4bp2
|
UTSW |
5 |
65,964,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R2507:N4bp2
|
UTSW |
5 |
65,947,404 (GRCm39) |
missense |
probably benign |
0.01 |
R2508:N4bp2
|
UTSW |
5 |
65,947,404 (GRCm39) |
missense |
probably benign |
0.01 |
R2919:N4bp2
|
UTSW |
5 |
65,964,441 (GRCm39) |
missense |
probably benign |
0.22 |
R3086:N4bp2
|
UTSW |
5 |
65,948,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R4092:N4bp2
|
UTSW |
5 |
65,947,799 (GRCm39) |
missense |
probably benign |
0.02 |
R4177:N4bp2
|
UTSW |
5 |
65,955,513 (GRCm39) |
splice site |
probably null |
|
R4718:N4bp2
|
UTSW |
5 |
65,960,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R4859:N4bp2
|
UTSW |
5 |
65,982,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R4863:N4bp2
|
UTSW |
5 |
65,965,473 (GRCm39) |
missense |
probably benign |
0.22 |
R4915:N4bp2
|
UTSW |
5 |
65,960,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R4949:N4bp2
|
UTSW |
5 |
65,979,142 (GRCm39) |
splice site |
probably null |
|
R4978:N4bp2
|
UTSW |
5 |
65,947,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R5029:N4bp2
|
UTSW |
5 |
65,972,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R5079:N4bp2
|
UTSW |
5 |
65,969,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R5097:N4bp2
|
UTSW |
5 |
65,974,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R5158:N4bp2
|
UTSW |
5 |
65,965,805 (GRCm39) |
missense |
probably damaging |
0.99 |
R5228:N4bp2
|
UTSW |
5 |
65,964,861 (GRCm39) |
missense |
probably benign |
|
R5322:N4bp2
|
UTSW |
5 |
65,947,800 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5554:N4bp2
|
UTSW |
5 |
65,965,457 (GRCm39) |
missense |
probably benign |
0.44 |
R5731:N4bp2
|
UTSW |
5 |
65,966,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R5840:N4bp2
|
UTSW |
5 |
65,965,437 (GRCm39) |
missense |
probably damaging |
0.99 |
R6767:N4bp2
|
UTSW |
5 |
65,974,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R7103:N4bp2
|
UTSW |
5 |
65,964,189 (GRCm39) |
missense |
probably benign |
0.01 |
R7112:N4bp2
|
UTSW |
5 |
65,948,050 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7171:N4bp2
|
UTSW |
5 |
65,965,365 (GRCm39) |
missense |
probably benign |
0.00 |
R7177:N4bp2
|
UTSW |
5 |
65,964,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R7240:N4bp2
|
UTSW |
5 |
65,951,888 (GRCm39) |
missense |
probably damaging |
0.96 |
R7353:N4bp2
|
UTSW |
5 |
65,963,714 (GRCm39) |
missense |
probably benign |
0.01 |
R7450:N4bp2
|
UTSW |
5 |
65,982,643 (GRCm39) |
nonsense |
probably null |
|
R7560:N4bp2
|
UTSW |
5 |
65,948,458 (GRCm39) |
missense |
probably damaging |
0.99 |
R7698:N4bp2
|
UTSW |
5 |
65,965,500 (GRCm39) |
missense |
probably benign |
0.00 |
R7743:N4bp2
|
UTSW |
5 |
65,965,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R7871:N4bp2
|
UTSW |
5 |
65,964,446 (GRCm39) |
missense |
probably benign |
0.00 |
R7981:N4bp2
|
UTSW |
5 |
65,969,485 (GRCm39) |
missense |
probably benign |
0.41 |
R8065:N4bp2
|
UTSW |
5 |
65,964,639 (GRCm39) |
missense |
probably damaging |
0.99 |
R8067:N4bp2
|
UTSW |
5 |
65,964,639 (GRCm39) |
missense |
probably damaging |
0.99 |
R8164:N4bp2
|
UTSW |
5 |
65,966,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R8166:N4bp2
|
UTSW |
5 |
65,977,655 (GRCm39) |
missense |
probably benign |
0.39 |
R8331:N4bp2
|
UTSW |
5 |
65,964,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R8559:N4bp2
|
UTSW |
5 |
65,982,628 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8806:N4bp2
|
UTSW |
5 |
65,965,551 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9287:N4bp2
|
UTSW |
5 |
65,960,855 (GRCm39) |
missense |
probably benign |
0.38 |
R9369:N4bp2
|
UTSW |
5 |
65,964,259 (GRCm39) |
missense |
probably damaging |
0.97 |
R9460:N4bp2
|
UTSW |
5 |
65,963,886 (GRCm39) |
missense |
probably benign |
0.00 |
R9462:N4bp2
|
UTSW |
5 |
65,947,898 (GRCm39) |
missense |
probably benign |
0.02 |
R9605:N4bp2
|
UTSW |
5 |
65,963,879 (GRCm39) |
missense |
probably benign |
0.02 |
R9641:N4bp2
|
UTSW |
5 |
65,948,035 (GRCm39) |
missense |
probably benign |
0.15 |
Z1177:N4bp2
|
UTSW |
5 |
65,964,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AATTACTGCCCGGTGCTCAC -3'
(R):5'- CAATCCGTGCACTATACCTTCTAAC -3'
Sequencing Primer
(F):5'- GGTGCTCACCCCTCTTCC -3'
(R):5'- CGTGCACTATACCTTCTAACAAATG -3'
|
Posted On |
2018-05-04 |