Incidental Mutation 'R7450:N4bp2'
| ID |
577632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
N4bp2
|
| Ensembl Gene |
ENSMUSG00000037795 |
| Gene Name |
NEDD4 binding protein 2 |
| Synonyms |
LOC333789, B3bp, LOC386488 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R7450 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
65920864-65987451 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 65982643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 1632
(Y1632*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087264]
[ENSMUST00000201489]
|
| AlphaFold |
F8VQG7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000087264
AA Change: Y1632*
|
| SMART Domains |
Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: Y1632*
| 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 null
Transcript: ENSMUST00000201489
AA Change: Y1632*
|
| SMART Domains |
Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: Y1632*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
A |
5: 113,331,977 (GRCm39) |
R746W |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,810,478 (GRCm39) |
L925P |
probably damaging |
Het |
| Abcc3 |
A |
T |
11: 94,252,521 (GRCm39) |
H787Q |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,370,101 (GRCm39) |
V987E |
probably damaging |
Het |
| Afg2a |
T |
C |
3: 37,510,934 (GRCm39) |
L697S |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,525,147 (GRCm39) |
Y1676* |
probably null |
Het |
| Ccdc168 |
A |
G |
1: 44,097,933 (GRCm39) |
V1055A |
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,202,447 (GRCm39) |
I283F |
possibly damaging |
Het |
| Cfap46 |
A |
T |
7: 139,197,353 (GRCm39) |
F2173I |
unknown |
Het |
| Cln6 |
G |
A |
9: 62,757,912 (GRCm39) |
E224K |
probably damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,415 (GRCm39) |
L372Q |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 31,006,165 (GRCm39) |
I3694N |
probably damaging |
Het |
| Dnal1 |
T |
C |
12: 84,171,297 (GRCm39) |
Y31H |
probably benign |
Het |
| Eid3 |
T |
A |
10: 82,702,737 (GRCm39) |
M66K |
probably benign |
Het |
| Epo |
T |
A |
5: 137,481,497 (GRCm39) |
E143D |
probably damaging |
Het |
| Fbxo25 |
C |
A |
8: 13,981,235 (GRCm39) |
N236K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,782,024 (GRCm39) |
I266V |
probably benign |
Het |
| Galnt6 |
T |
C |
15: 100,595,696 (GRCm39) |
Y444C |
probably damaging |
Het |
| Gna11 |
T |
C |
10: 81,368,356 (GRCm39) |
Y160C |
|
Het |
| Hectd4 |
A |
T |
5: 121,419,995 (GRCm39) |
T647S |
probably benign |
Het |
| Hgd |
T |
C |
16: 37,444,686 (GRCm39) |
V316A |
possibly damaging |
Het |
| Idh3a |
T |
C |
9: 54,503,367 (GRCm39) |
V142A |
probably damaging |
Het |
| Il3ra |
T |
A |
14: 14,351,090 (GRCm38) |
I297N |
probably benign |
Het |
| Kcnj5 |
T |
G |
9: 32,233,491 (GRCm39) |
I275L |
possibly damaging |
Het |
| Kdm7a |
A |
T |
6: 39,120,185 (GRCm39) |
L928Q |
probably damaging |
Het |
| Kmo |
A |
G |
1: 175,466,666 (GRCm39) |
I75V |
probably benign |
Het |
| Krtap1-3 |
C |
A |
11: 99,481,697 (GRCm39) |
C150F |
unknown |
Het |
| Lingo3 |
C |
A |
10: 80,670,671 (GRCm39) |
E420* |
probably null |
Het |
| Lrrc37a |
A |
G |
11: 103,389,152 (GRCm39) |
V2091A |
probably benign |
Het |
| Nlrp1a |
C |
A |
11: 70,998,484 (GRCm39) |
G905V |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,064,364 (GRCm39) |
E988V |
probably benign |
Het |
| Nol8 |
T |
G |
13: 49,813,491 (GRCm39) |
H179Q |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,360,365 (GRCm39) |
P1522L |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,022,495 (GRCm39) |
|
probably null |
Het |
| Oas1b |
T |
A |
5: 120,959,321 (GRCm39) |
Y234* |
probably null |
Het |
| Or10al7 |
T |
C |
17: 38,366,000 (GRCm39) |
I152M |
probably benign |
Het |
| Or12d17 |
C |
A |
17: 37,777,507 (GRCm39) |
Q137K |
probably benign |
Het |
| Or12e14 |
A |
C |
2: 87,676,803 (GRCm39) |
K63Q |
probably damaging |
Het |
| Or13c9 |
T |
A |
4: 52,936,113 (GRCm39) |
K57* |
probably null |
Het |
| Or6c1b |
A |
C |
10: 129,273,298 (GRCm39) |
M206L |
probably benign |
Het |
| Pag1 |
T |
C |
3: 9,764,599 (GRCm39) |
T185A |
probably damaging |
Het |
| Palmd |
A |
T |
3: 116,721,292 (GRCm39) |
S100T |
probably damaging |
Het |
| Papln |
C |
A |
12: 83,826,945 (GRCm39) |
A690E |
probably benign |
Het |
| Pcdhga7 |
C |
T |
18: 37,849,079 (GRCm39) |
T362M |
probably benign |
Het |
| Pmpcb |
T |
A |
5: 21,951,983 (GRCm39) |
V286E |
possibly damaging |
Het |
| Pon3 |
T |
C |
6: 5,236,940 (GRCm39) |
I142M |
possibly damaging |
Het |
| Prdx6 |
A |
G |
1: 161,069,386 (GRCm39) |
S194P |
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 79,080,366 (GRCm39) |
E112G |
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
| Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rps6kb1 |
T |
A |
11: 86,393,657 (GRCm39) |
E491V |
probably benign |
Het |
| Sema3d |
C |
T |
5: 12,634,901 (GRCm39) |
Q656* |
probably null |
Het |
| Shisa6 |
A |
T |
11: 66,108,832 (GRCm39) |
D348E |
probably benign |
Het |
| Slc16a7 |
G |
T |
10: 125,063,920 (GRCm39) |
H472Q |
probably benign |
Het |
| Slc49a4 |
T |
C |
16: 35,589,344 (GRCm39) |
I90V |
possibly damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,720,995 (GRCm39) |
|
probably benign |
Het |
| Smad4 |
A |
G |
18: 73,810,924 (GRCm39) |
V20A |
probably damaging |
Het |
| Sstr3 |
G |
A |
15: 78,424,043 (GRCm39) |
R235W |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,064,248 (GRCm39) |
H3245L |
possibly damaging |
Het |
| Tra2a |
G |
A |
6: 49,227,919 (GRCm39) |
R70* |
probably null |
Het |
| Trav7-4 |
G |
T |
14: 53,698,924 (GRCm39) |
V24L |
probably benign |
Het |
| Tsc2 |
C |
A |
17: 24,819,005 (GRCm39) |
S1278I |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,197,475 (GRCm39) |
S726P |
unknown |
Het |
| Vmn2r42 |
A |
T |
7: 8,187,220 (GRCm39) |
Y851N |
probably benign |
Het |
| Wwp1 |
A |
G |
4: 19,640,016 (GRCm39) |
Y509H |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,340,159 (GRCm39) |
Q800P |
possibly damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,667,281 (GRCm39) |
F609L |
probably benign |
Het |
| Zdhhc8 |
G |
T |
16: 18,043,035 (GRCm39) |
H388Q |
probably benign |
Het |
| Zfp1004 |
A |
G |
2: 150,035,046 (GRCm39) |
T456A |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,786,392 (GRCm39) |
K52E |
probably benign |
Het |
| Zfp82 |
T |
G |
7: 29,756,320 (GRCm39) |
E254A |
probably 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 |
|
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 |
|
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'- TGTGCTCAAAGTCTAGTTCCAC -3'
(R):5'- TTGTGACTGAAATCAGAGAGCG -3'
Sequencing Primer
(F):5'- GATGGATAAACTGCTTCAAGGCTC -3'
(R):5'- CGGAAGTGAAGTGACTATCTGAAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation