Incidental Mutation 'R7353:N4bp2'
ID |
570728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
N4bp2
|
Ensembl Gene |
ENSMUSG00000037795 |
Gene Name |
NEDD4 binding protein 2 |
Synonyms |
B3bp, LOC333789, LOC386488 |
MMRRC Submission |
045439-MU
|
Accession Numbers |
Genbank: NM_001024917.1; Ensembl: ENSMUST00000113738
|
Essential gene? |
Probably non essential
(E-score: 0.140)
|
Stock # |
R7353 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
65763521-65830108 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 65806371 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 588
(V588M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087264]
[ENSMUST00000201489]
[ENSMUST00000201615]
|
AlphaFold |
F8VQG7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087264
AA Change: V588M
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000084519 Gene: ENSMUSG00000037795 AA Change: V588M
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 |
probably benign
Transcript: ENSMUST00000201489
AA Change: V588M
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000143807 Gene: ENSMUSG00000037795 AA Change: V588M
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 |
probably benign
Transcript: ENSMUST00000201615
AA Change: V588M
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000144278 Gene: ENSMUSG00000037795 AA Change: V588M
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: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
Validation Efficiency |
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
C |
A |
13: 119,488,178 (GRCm38) |
A11S |
unknown |
Het |
Aadacl4 |
G |
A |
4: 144,617,920 (GRCm38) |
V89I |
probably damaging |
Het |
Abcc9 |
T |
A |
6: 142,601,005 (GRCm38) |
I1369F |
probably damaging |
Het |
Adgrf3 |
T |
A |
5: 30,198,497 (GRCm38) |
I427F |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,321,435 (GRCm38) |
Y139C |
probably damaging |
Het |
Arhgef2 |
T |
A |
3: 88,635,686 (GRCm38) |
V397E |
possibly damaging |
Het |
Arhgef28 |
T |
A |
13: 98,075,202 (GRCm38) |
Y91F |
probably damaging |
Het |
Bcar3 |
A |
G |
3: 122,512,692 (GRCm38) |
T454A |
probably benign |
Het |
Bicc1 |
G |
T |
10: 70,947,900 (GRCm38) |
T469K |
probably benign |
Het |
Boc |
C |
T |
16: 44,485,737 (GRCm38) |
V1070M |
unknown |
Het |
Ccdc88a |
T |
A |
11: 29,463,368 (GRCm38) |
N635K |
probably benign |
Het |
Ccr2 |
T |
C |
9: 124,106,756 (GRCm38) |
S358P |
probably damaging |
Het |
Ccser2 |
T |
C |
14: 36,941,143 (GRCm38) |
Q28R |
possibly damaging |
Het |
Cenpf |
T |
A |
1: 189,654,138 (GRCm38) |
K1982* |
probably null |
Het |
Csn1s2a |
A |
T |
5: 87,785,302 (GRCm38) |
I137F |
possibly damaging |
Het |
Cttnbp2 |
A |
T |
6: 18,375,944 (GRCm38) |
I1532K |
possibly damaging |
Het |
Dnajc13 |
C |
A |
9: 104,230,031 (GRCm38) |
R304L |
possibly damaging |
Het |
Dopey1 |
T |
A |
9: 86,512,859 (GRCm38) |
M664K |
probably damaging |
Het |
Emilin3 |
T |
A |
2: 160,908,821 (GRCm38) |
E336V |
probably damaging |
Het |
Eml5 |
A |
G |
12: 98,825,424 (GRCm38) |
Y63H |
|
Het |
Fbxo41 |
G |
T |
6: 85,479,976 (GRCm38) |
R404S |
possibly damaging |
Het |
Gm8897 |
G |
A |
5: 11,416,436 (GRCm38) |
D7N |
possibly damaging |
Het |
Gpr155 |
A |
T |
2: 73,367,491 (GRCm38) |
Y456* |
probably null |
Het |
Gpr156 |
T |
A |
16: 37,992,161 (GRCm38) |
N286K |
probably damaging |
Het |
Kcna5 |
A |
G |
6: 126,534,845 (GRCm38) |
S107P |
probably benign |
Het |
Kcne2 |
A |
T |
16: 92,296,822 (GRCm38) |
H79L |
possibly damaging |
Het |
Kcnh4 |
T |
A |
11: 100,757,199 (GRCm38) |
M113L |
probably benign |
Het |
Lad1 |
T |
A |
1: 135,827,775 (GRCm38) |
L263Q |
probably damaging |
Het |
Lctl |
G |
A |
9: 64,126,967 (GRCm38) |
G296D |
probably damaging |
Het |
Lmtk3 |
A |
T |
7: 45,788,000 (GRCm38) |
I205F |
possibly damaging |
Het |
Magel2 |
G |
T |
7: 62,379,331 (GRCm38) |
R661L |
unknown |
Het |
Mcm10 |
G |
A |
2: 5,007,109 (GRCm38) |
P180S |
possibly damaging |
Het |
Mia3 |
G |
T |
1: 183,327,392 (GRCm38) |
A446D |
|
Het |
Naip6 |
C |
T |
13: 100,299,751 (GRCm38) |
V755M |
probably benign |
Het |
Neurl1a |
T |
C |
19: 47,240,660 (GRCm38) |
V213A |
probably damaging |
Het |
Nrd1 |
A |
G |
4: 109,039,749 (GRCm38) |
T522A |
probably damaging |
Het |
Ntng1 |
T |
C |
3: 110,135,447 (GRCm38) |
Q21R |
probably damaging |
Het |
Nup160 |
T |
C |
2: 90,703,952 (GRCm38) |
L707S |
probably damaging |
Het |
Oas2 |
A |
T |
5: 120,738,522 (GRCm38) |
V452D |
probably damaging |
Het |
Olfr3 |
A |
G |
2: 36,812,903 (GRCm38) |
L63P |
probably damaging |
Het |
Olfr350 |
A |
T |
2: 36,850,069 (GRCm38) |
M8L |
probably benign |
Het |
Olfr351 |
G |
A |
2: 36,859,668 (GRCm38) |
R227* |
probably null |
Het |
Olfr519 |
A |
G |
7: 108,894,222 (GRCm38) |
F67L |
probably damaging |
Het |
Olfr593 |
A |
C |
7: 103,212,309 (GRCm38) |
T150P |
probably damaging |
Het |
Plekhg1 |
A |
T |
10: 3,964,327 (GRCm38) |
T1405S |
|
Het |
Pnrc1 |
G |
A |
4: 33,248,300 (GRCm38) |
P33L |
probably damaging |
Het |
Prkag2 |
A |
T |
5: 24,880,686 (GRCm38) |
V312E |
possibly damaging |
Het |
Rps17 |
T |
A |
7: 81,344,345 (GRCm38) |
E76V |
possibly damaging |
Het |
Rsph10b |
G |
A |
5: 143,967,220 (GRCm38) |
G672S |
possibly damaging |
Het |
Slc2a13 |
T |
C |
15: 91,321,604 (GRCm38) |
N460S |
probably benign |
Het |
Slco2b1 |
A |
T |
7: 99,690,557 (GRCm38) |
C56S |
possibly damaging |
Het |
Spn |
T |
C |
7: 127,137,006 (GRCm38) |
T110A |
probably benign |
Het |
Sult2a8 |
T |
C |
7: 14,413,715 (GRCm38) |
N217S |
possibly damaging |
Het |
Tbx2 |
C |
A |
11: 85,833,489 (GRCm38) |
T128N |
probably damaging |
Het |
Tecpr2 |
A |
T |
12: 110,967,844 (GRCm38) |
M1313L |
probably benign |
Het |
Tmc2 |
G |
A |
2: 130,196,577 (GRCm38) |
|
probably null |
Het |
Tstd1 |
G |
T |
1: 171,419,955 (GRCm38) |
A69S |
probably damaging |
Het |
Txnrd3 |
A |
G |
6: 89,661,585 (GRCm38) |
D252G |
probably benign |
Het |
Ulk2 |
T |
C |
11: 61,819,348 (GRCm38) |
N345D |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,574,073 (GRCm38) |
D1694G |
probably benign |
Het |
Vill |
T |
C |
9: 119,065,493 (GRCm38) |
V406A |
probably damaging |
Het |
Vmn2r115 |
T |
C |
17: 23,345,913 (GRCm38) |
V258A |
possibly damaging |
Het |
Vmn2r82 |
T |
A |
10: 79,396,618 (GRCm38) |
M817K |
probably benign |
Het |
Xpnpep3 |
T |
C |
15: 81,430,887 (GRCm38) |
S263P |
probably benign |
Het |
Zfp980 |
A |
G |
4: 145,702,144 (GRCm38) |
D481G |
probably benign |
Het |
Zmpste24 |
A |
G |
4: 121,095,581 (GRCm38) |
S81P |
probably damaging |
Het |
Znrf4 |
A |
G |
17: 56,512,169 (GRCm38) |
V46A |
probably benign |
Het |
|
Other mutations in N4bp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00484:N4bp2
|
APN |
5 |
65,807,524 (GRCm38) |
missense |
probably damaging |
0.96 |
IGL01503:N4bp2
|
APN |
5 |
65,803,547 (GRCm38) |
nonsense |
probably null |
0.00 |
IGL01621:N4bp2
|
APN |
5 |
65,790,924 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02109:N4bp2
|
APN |
5 |
65,798,134 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02286:N4bp2
|
APN |
5 |
65,803,552 (GRCm38) |
missense |
probably damaging |
1.00 |
1mM(1):N4bp2
|
UTSW |
5 |
65,807,677 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03046:N4bp2
|
UTSW |
5 |
65,790,960 (GRCm38) |
missense |
probably damaging |
1.00 |
R0164:N4bp2
|
UTSW |
5 |
65,803,573 (GRCm38) |
splice site |
probably benign |
|
R0285:N4bp2
|
UTSW |
5 |
65,806,559 (GRCm38) |
missense |
probably benign |
0.00 |
R0366:N4bp2
|
UTSW |
5 |
65,806,396 (GRCm38) |
missense |
possibly damaging |
0.95 |
R0548:N4bp2
|
UTSW |
5 |
65,808,153 (GRCm38) |
missense |
probably benign |
0.39 |
R0551:N4bp2
|
UTSW |
5 |
65,820,341 (GRCm38) |
splice site |
probably null |
|
R0671:N4bp2
|
UTSW |
5 |
65,807,437 (GRCm38) |
missense |
probably damaging |
0.99 |
R1136:N4bp2
|
UTSW |
5 |
65,808,472 (GRCm38) |
missense |
probably damaging |
1.00 |
R1515:N4bp2
|
UTSW |
5 |
65,790,498 (GRCm38) |
missense |
probably benign |
0.01 |
R1597:N4bp2
|
UTSW |
5 |
65,807,140 (GRCm38) |
missense |
probably benign |
0.45 |
R1628:N4bp2
|
UTSW |
5 |
65,803,572 (GRCm38) |
splice site |
probably null |
|
R1722:N4bp2
|
UTSW |
5 |
65,806,882 (GRCm38) |
missense |
probably benign |
0.08 |
R1735:N4bp2
|
UTSW |
5 |
65,808,316 (GRCm38) |
missense |
probably damaging |
1.00 |
R1745:N4bp2
|
UTSW |
5 |
65,790,822 (GRCm38) |
missense |
probably benign |
0.12 |
R1759:N4bp2
|
UTSW |
5 |
65,826,613 (GRCm38) |
missense |
probably damaging |
1.00 |
R1799:N4bp2
|
UTSW |
5 |
65,806,825 (GRCm38) |
missense |
possibly damaging |
0.62 |
R1846:N4bp2
|
UTSW |
5 |
65,808,519 (GRCm38) |
missense |
probably damaging |
1.00 |
R1872:N4bp2
|
UTSW |
5 |
65,794,518 (GRCm38) |
splice site |
probably benign |
|
R2042:N4bp2
|
UTSW |
5 |
65,826,621 (GRCm38) |
missense |
probably damaging |
1.00 |
R2082:N4bp2
|
UTSW |
5 |
65,807,565 (GRCm38) |
missense |
probably damaging |
1.00 |
R2101:N4bp2
|
UTSW |
5 |
65,790,881 (GRCm38) |
missense |
probably damaging |
1.00 |
R2147:N4bp2
|
UTSW |
5 |
65,809,200 (GRCm38) |
missense |
probably damaging |
1.00 |
R2251:N4bp2
|
UTSW |
5 |
65,806,728 (GRCm38) |
missense |
probably damaging |
1.00 |
R2507:N4bp2
|
UTSW |
5 |
65,790,061 (GRCm38) |
missense |
probably benign |
0.01 |
R2508:N4bp2
|
UTSW |
5 |
65,790,061 (GRCm38) |
missense |
probably benign |
0.01 |
R2919:N4bp2
|
UTSW |
5 |
65,807,098 (GRCm38) |
missense |
probably benign |
0.22 |
R3086:N4bp2
|
UTSW |
5 |
65,791,053 (GRCm38) |
missense |
probably damaging |
1.00 |
R4092:N4bp2
|
UTSW |
5 |
65,790,456 (GRCm38) |
missense |
probably benign |
0.02 |
R4177:N4bp2
|
UTSW |
5 |
65,798,170 (GRCm38) |
splice site |
probably null |
|
R4718:N4bp2
|
UTSW |
5 |
65,803,463 (GRCm38) |
missense |
probably damaging |
1.00 |
R4859:N4bp2
|
UTSW |
5 |
65,825,298 (GRCm38) |
missense |
probably damaging |
1.00 |
R4863:N4bp2
|
UTSW |
5 |
65,808,130 (GRCm38) |
missense |
probably benign |
0.22 |
R4915:N4bp2
|
UTSW |
5 |
65,803,504 (GRCm38) |
missense |
probably damaging |
1.00 |
R4949:N4bp2
|
UTSW |
5 |
65,821,799 (GRCm38) |
splice site |
probably null |
|
R4978:N4bp2
|
UTSW |
5 |
65,790,240 (GRCm38) |
missense |
probably damaging |
1.00 |
R5029:N4bp2
|
UTSW |
5 |
65,814,780 (GRCm38) |
missense |
probably damaging |
1.00 |
R5079:N4bp2
|
UTSW |
5 |
65,811,977 (GRCm38) |
missense |
probably damaging |
1.00 |
R5097:N4bp2
|
UTSW |
5 |
65,817,218 (GRCm38) |
missense |
probably damaging |
1.00 |
R5158:N4bp2
|
UTSW |
5 |
65,808,462 (GRCm38) |
missense |
probably damaging |
0.99 |
R5228:N4bp2
|
UTSW |
5 |
65,807,518 (GRCm38) |
missense |
probably benign |
|
R5322:N4bp2
|
UTSW |
5 |
65,790,457 (GRCm38) |
missense |
possibly damaging |
0.76 |
R5554:N4bp2
|
UTSW |
5 |
65,808,114 (GRCm38) |
missense |
probably benign |
0.44 |
R5731:N4bp2
|
UTSW |
5 |
65,809,157 (GRCm38) |
missense |
probably damaging |
1.00 |
R5840:N4bp2
|
UTSW |
5 |
65,808,094 (GRCm38) |
missense |
probably damaging |
0.99 |
R6393:N4bp2
|
UTSW |
5 |
65,791,001 (GRCm38) |
missense |
possibly damaging |
0.81 |
R6767:N4bp2
|
UTSW |
5 |
65,817,187 (GRCm38) |
missense |
probably damaging |
1.00 |
R7103:N4bp2
|
UTSW |
5 |
65,806,846 (GRCm38) |
missense |
probably benign |
0.01 |
R7112:N4bp2
|
UTSW |
5 |
65,790,707 (GRCm38) |
missense |
possibly damaging |
0.74 |
R7171:N4bp2
|
UTSW |
5 |
65,808,022 (GRCm38) |
missense |
probably benign |
0.00 |
R7177:N4bp2
|
UTSW |
5 |
65,807,548 (GRCm38) |
missense |
probably damaging |
1.00 |
R7240:N4bp2
|
UTSW |
5 |
65,794,545 (GRCm38) |
missense |
probably damaging |
0.96 |
R7450:N4bp2
|
UTSW |
5 |
65,825,300 (GRCm38) |
nonsense |
probably null |
|
R7560:N4bp2
|
UTSW |
5 |
65,791,115 (GRCm38) |
missense |
probably damaging |
0.99 |
R7698:N4bp2
|
UTSW |
5 |
65,808,157 (GRCm38) |
missense |
probably benign |
0.00 |
R7743:N4bp2
|
UTSW |
5 |
65,808,459 (GRCm38) |
missense |
probably damaging |
1.00 |
R7871:N4bp2
|
UTSW |
5 |
65,807,103 (GRCm38) |
missense |
probably benign |
0.00 |
R7981:N4bp2
|
UTSW |
5 |
65,812,142 (GRCm38) |
missense |
probably benign |
0.41 |
R8065:N4bp2
|
UTSW |
5 |
65,807,296 (GRCm38) |
missense |
probably damaging |
0.99 |
R8067:N4bp2
|
UTSW |
5 |
65,807,296 (GRCm38) |
missense |
probably damaging |
0.99 |
R8164:N4bp2
|
UTSW |
5 |
65,809,223 (GRCm38) |
missense |
probably damaging |
1.00 |
R8166:N4bp2
|
UTSW |
5 |
65,820,312 (GRCm38) |
missense |
probably benign |
0.39 |
R8331:N4bp2
|
UTSW |
5 |
65,807,600 (GRCm38) |
missense |
probably damaging |
1.00 |
R8559:N4bp2
|
UTSW |
5 |
65,825,285 (GRCm38) |
missense |
possibly damaging |
0.62 |
R8806:N4bp2
|
UTSW |
5 |
65,808,208 (GRCm38) |
missense |
possibly damaging |
0.63 |
R9287:N4bp2
|
UTSW |
5 |
65,803,512 (GRCm38) |
missense |
probably benign |
0.38 |
R9369:N4bp2
|
UTSW |
5 |
65,806,916 (GRCm38) |
missense |
probably damaging |
0.97 |
R9460:N4bp2
|
UTSW |
5 |
65,806,543 (GRCm38) |
missense |
probably benign |
0.00 |
R9462:N4bp2
|
UTSW |
5 |
65,790,555 (GRCm38) |
missense |
probably benign |
0.02 |
R9605:N4bp2
|
UTSW |
5 |
65,806,536 (GRCm38) |
missense |
probably benign |
0.02 |
R9641:N4bp2
|
UTSW |
5 |
65,790,692 (GRCm38) |
missense |
probably benign |
0.15 |
Z1177:N4bp2
|
UTSW |
5 |
65,807,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACTTGAAATGTCTTGTAGCCC -3'
(R):5'- CTTGATTATCATCAGCACAGCGC -3'
Sequencing Primer
(F):5'- TTGTAGCCCAAGAGACAGTG -3'
(R):5'- ACAGCGCCCATCTGATGACG -3'
|
Posted On |
2019-09-13 |