Incidental Mutation 'R8806:N4bp2'
ID |
672054 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
N4bp2
|
Ensembl Gene |
ENSMUSG00000037795 |
Gene Name |
NEDD4 binding protein 2 |
Synonyms |
LOC333789, B3bp, LOC386488 |
MMRRC Submission |
068612-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R8806 (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 A
at 65965551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 1200
(I1200K)
|
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: I1200K
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000084519 Gene: ENSMUSG00000037795 AA Change: I1200K
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: I1200K
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143807 Gene: ENSMUSG00000037795 AA Change: I1200K
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: I1200K
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000144278 Gene: ENSMUSG00000037795 AA Change: I1200K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
Validation Efficiency |
100% (66/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,084,520 (GRCm39) |
M586V |
probably benign |
Het |
Adam6b |
G |
A |
12: 113,455,418 (GRCm39) |
R745H |
possibly damaging |
Het |
Afg3l1 |
A |
G |
8: 124,220,657 (GRCm39) |
D462G |
probably damaging |
Het |
Anapc1 |
T |
A |
2: 128,464,333 (GRCm39) |
Q1721L |
possibly damaging |
Het |
Arhgap11a |
T |
C |
2: 113,665,107 (GRCm39) |
Y497C |
possibly damaging |
Het |
Bcl7b |
T |
G |
5: 135,208,824 (GRCm39) |
S96A |
possibly damaging |
Het |
Birc6 |
T |
C |
17: 74,949,311 (GRCm39) |
V3111A |
probably damaging |
Het |
Cbx1 |
A |
G |
11: 96,692,383 (GRCm39) |
D90G |
possibly damaging |
Het |
Cdkl3 |
T |
C |
11: 51,923,295 (GRCm39) |
F524S |
possibly damaging |
Het |
Cops7b |
G |
A |
1: 86,517,031 (GRCm39) |
G44R |
probably damaging |
Het |
D130043K22Rik |
A |
G |
13: 25,083,618 (GRCm39) |
S1028G |
probably benign |
Het |
Decr1 |
T |
A |
4: 15,945,351 (GRCm39) |
M1L |
probably benign |
Het |
Dmtn |
T |
C |
14: 70,852,388 (GRCm39) |
I167V |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,750,309 (GRCm39) |
L3932P |
probably damaging |
Het |
Ece1 |
T |
A |
4: 137,672,452 (GRCm39) |
I365N |
probably damaging |
Het |
Efcab3 |
T |
A |
11: 104,928,695 (GRCm39) |
M4815K |
probably benign |
Het |
Exo5 |
T |
C |
4: 120,779,602 (GRCm39) |
T88A |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,390,064 (GRCm39) |
Y1772H |
probably benign |
Het |
Gm5160 |
A |
G |
18: 14,557,931 (GRCm39) |
N3D |
possibly damaging |
Het |
Gm7138 |
T |
A |
10: 77,612,717 (GRCm39) |
D21V |
unknown |
Het |
Gm7298 |
C |
A |
6: 121,761,641 (GRCm39) |
|
silent |
Het |
Gucy2e |
A |
G |
11: 69,126,942 (GRCm39) |
V177A |
probably benign |
Het |
Islr |
C |
A |
9: 58,064,256 (GRCm39) |
G417V |
unknown |
Het |
Kif13a |
A |
T |
13: 46,914,813 (GRCm39) |
M1458K |
possibly damaging |
Het |
Mcm7 |
T |
C |
5: 138,163,347 (GRCm39) |
D642G |
possibly damaging |
Het |
Med24 |
A |
T |
11: 98,595,970 (GRCm39) |
I941N |
probably damaging |
Het |
Mrgprb8 |
C |
T |
7: 48,038,976 (GRCm39) |
P216S |
possibly damaging |
Het |
Myo5c |
T |
A |
9: 75,150,054 (GRCm39) |
V13D |
probably damaging |
Het |
Naip6 |
G |
A |
13: 100,437,161 (GRCm39) |
T454M |
possibly damaging |
Het |
Nfkb1 |
T |
C |
3: 135,295,213 (GRCm39) |
Y877C |
probably damaging |
Het |
Nolc1 |
C |
A |
19: 46,071,471 (GRCm39) |
S473R |
unknown |
Het |
Nop16 |
A |
C |
13: 54,737,672 (GRCm39) |
|
probably benign |
Het |
Nr3c2 |
T |
C |
8: 77,969,092 (GRCm39) |
I959T |
probably damaging |
Het |
Nup88 |
T |
G |
11: 70,834,941 (GRCm39) |
K692N |
probably benign |
Het |
Nvl |
C |
A |
1: 180,922,619 (GRCm39) |
G818V |
probably benign |
Het |
Or1i2 |
G |
T |
10: 78,447,974 (GRCm39) |
T167N |
probably benign |
Het |
Or4k6 |
T |
A |
14: 50,475,376 (GRCm39) |
E322V |
probably benign |
Het |
Or4n4 |
A |
G |
14: 50,519,236 (GRCm39) |
I158T |
probably benign |
Het |
Or4s2b |
T |
C |
2: 88,508,955 (GRCm39) |
V245A |
probably benign |
Het |
Or8b49 |
A |
T |
9: 38,506,405 (GRCm39) |
D296V |
probably damaging |
Het |
Or8k1 |
T |
C |
2: 86,047,200 (GRCm39) |
I285V |
probably damaging |
Het |
Plxnc1 |
G |
A |
10: 94,635,140 (GRCm39) |
S1362L |
probably damaging |
Het |
Ppfia2 |
C |
T |
10: 106,694,114 (GRCm39) |
A696V |
probably damaging |
Het |
Prl |
A |
G |
13: 27,243,515 (GRCm39) |
Y62C |
probably damaging |
Het |
Rnf135 |
A |
G |
11: 80,089,762 (GRCm39) |
D366G |
probably damaging |
Het |
Rrp8 |
A |
G |
7: 105,384,244 (GRCm39) |
L86P |
probably damaging |
Het |
Rsph4a |
T |
C |
10: 33,785,445 (GRCm39) |
V452A |
probably damaging |
Het |
Runx2 |
C |
A |
17: 44,950,570 (GRCm39) |
V410L |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,376,665 (GRCm39) |
T199A |
probably damaging |
Het |
Sik3 |
T |
C |
9: 46,120,365 (GRCm39) |
S745P |
probably damaging |
Het |
Slc35e1 |
T |
A |
8: 73,241,973 (GRCm39) |
S250C |
probably damaging |
Het |
Snx31 |
A |
G |
15: 36,537,698 (GRCm39) |
F160S |
probably damaging |
Het |
Spata31g1 |
A |
G |
4: 42,971,261 (GRCm39) |
D198G |
probably benign |
Het |
Stim2 |
T |
A |
5: 54,156,257 (GRCm39) |
V11E |
probably benign |
Het |
Tektl1 |
A |
G |
10: 78,588,306 (GRCm39) |
V168A |
probably damaging |
Het |
Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
Tox4 |
T |
C |
14: 52,524,318 (GRCm39) |
S151P |
probably damaging |
Het |
Trim34b |
A |
T |
7: 103,985,319 (GRCm39) |
D318V |
probably damaging |
Het |
Ubtd1 |
T |
C |
19: 42,022,195 (GRCm39) |
S156P |
probably damaging |
Het |
Usp34 |
C |
A |
11: 23,434,143 (GRCm39) |
L3240M |
|
Het |
Vmn1r56 |
T |
C |
7: 5,198,805 (GRCm39) |
S271G |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,472,212 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
C |
9: 67,853,110 (GRCm39) |
F2401S |
probably damaging |
Het |
Zbtb11 |
G |
A |
16: 55,802,637 (GRCm39) |
V216I |
probably damaging |
Het |
Zfp931 |
T |
C |
2: 177,709,589 (GRCm39) |
T266A |
possibly damaging |
Het |
Zfp956 |
A |
G |
6: 47,933,042 (GRCm39) |
M106V |
probably benign |
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 |
R6393:N4bp2
|
UTSW |
5 |
65,948,344 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
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'- AATGAGACACTGCCTGACCG -3'
(R):5'- GGGAGTCAATACCTCAGCTTTACC -3'
Sequencing Primer
(F):5'- TGACCGTCAGGCTGAACTG -3'
(R):5'- TGACCAACCACTTCCTGGCATTAG -3'
|
Posted On |
2021-04-30 |