Incidental Mutation 'R6767:N4bp2'
ID |
531966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
N4bp2
|
Ensembl Gene |
ENSMUSG00000037795 |
Gene Name |
NEDD4 binding protein 2 |
Synonyms |
LOC333789, B3bp, LOC386488 |
MMRRC Submission |
044883-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R6767 (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 65974530 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1467
(F1467L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087264]
[ENSMUST00000201489]
[ENSMUST00000201615]
|
AlphaFold |
F8VQG7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087264
AA Change: F1467L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000084519 Gene: ENSMUSG00000037795 AA Change: F1467L
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 damaging
Transcript: ENSMUST00000201489
AA Change: F1467L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143807 Gene: ENSMUSG00000037795 AA Change: F1467L
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 damaging
Transcript: ENSMUST00000201615
AA Change: F1467L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144278 Gene: ENSMUSG00000037795 AA Change: F1467L
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (67/67) |
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 |
Adam34l |
G |
A |
8: 44,079,951 (GRCm39) |
T91I |
probably damaging |
Het |
Ak7 |
A |
G |
12: 105,732,866 (GRCm39) |
N537D |
probably damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
Atp8a2 |
A |
G |
14: 60,284,171 (GRCm39) |
F47S |
probably damaging |
Het |
Cadps |
T |
A |
14: 12,550,888 (GRCm38) |
T449S |
probably damaging |
Het |
Ccdc33 |
C |
G |
9: 57,940,527 (GRCm39) |
Q489H |
possibly damaging |
Het |
Cd163 |
T |
G |
6: 124,281,738 (GRCm39) |
S14A |
possibly damaging |
Het |
Cemip |
G |
A |
7: 83,647,832 (GRCm39) |
L83F |
probably damaging |
Het |
Chrd |
C |
T |
16: 20,557,376 (GRCm39) |
P665L |
probably benign |
Het |
Cib4 |
T |
A |
5: 30,691,589 (GRCm39) |
H44L |
probably benign |
Het |
Clic1 |
T |
A |
17: 35,272,029 (GRCm39) |
L99Q |
probably benign |
Het |
Cnst |
C |
T |
1: 179,437,519 (GRCm39) |
T361I |
possibly damaging |
Het |
Dnah6 |
C |
A |
6: 73,110,591 (GRCm39) |
V1613L |
probably benign |
Het |
Dnajb8 |
T |
C |
6: 88,199,634 (GRCm39) |
S57P |
probably damaging |
Het |
Dyrk3 |
T |
C |
1: 131,057,327 (GRCm39) |
H282R |
probably damaging |
Het |
Fasn |
T |
C |
11: 120,708,313 (GRCm39) |
I651V |
possibly damaging |
Het |
Gas6 |
A |
G |
8: 13,515,784 (GRCm39) |
S663P |
probably damaging |
Het |
Gbp8 |
T |
C |
5: 105,166,478 (GRCm39) |
M284V |
probably benign |
Het |
Gm12695 |
T |
C |
4: 96,650,933 (GRCm39) |
|
probably null |
Het |
Gm6034 |
T |
A |
17: 36,354,023 (GRCm39) |
M1K |
probably null |
Het |
Gm9376 |
A |
G |
14: 118,504,648 (GRCm39) |
T27A |
unknown |
Het |
Grid2 |
A |
G |
6: 63,907,999 (GRCm39) |
D213G |
probably benign |
Het |
Gsdma3 |
A |
T |
11: 98,528,710 (GRCm39) |
D388V |
possibly damaging |
Het |
H4c2 |
T |
A |
13: 23,941,005 (GRCm39) |
M1K |
probably null |
Het |
Hdac9 |
T |
A |
12: 34,337,528 (GRCm39) |
H716L |
probably damaging |
Het |
Hivep1 |
T |
C |
13: 42,308,203 (GRCm39) |
S148P |
probably damaging |
Het |
Kctd1 |
T |
C |
18: 15,195,232 (GRCm39) |
T464A |
possibly damaging |
Het |
Kera |
A |
G |
10: 97,445,034 (GRCm39) |
D131G |
possibly damaging |
Het |
Kif2c |
C |
T |
4: 117,035,385 (GRCm39) |
R21Q |
probably benign |
Het |
Luc7l3 |
G |
T |
11: 94,183,779 (GRCm39) |
D453E |
probably damaging |
Het |
Mrpl9 |
A |
G |
3: 94,357,528 (GRCm39) |
|
probably benign |
Het |
Mtss1 |
T |
C |
15: 58,825,430 (GRCm39) |
S257G |
probably benign |
Het |
Naa25 |
T |
C |
5: 121,577,928 (GRCm39) |
V945A |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,407,923 (GRCm39) |
I103M |
probably damaging |
Het |
Or2w1b |
C |
T |
13: 21,300,227 (GRCm39) |
R122C |
probably benign |
Het |
Orm3 |
C |
T |
4: 63,274,531 (GRCm39) |
T32I |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Plch1 |
A |
T |
3: 63,662,765 (GRCm39) |
M246K |
probably damaging |
Het |
Pld4 |
A |
C |
12: 112,730,549 (GRCm39) |
D144A |
possibly damaging |
Het |
Prelp |
C |
A |
1: 133,840,448 (GRCm39) |
V345L |
probably benign |
Het |
Rnf121 |
A |
G |
7: 101,672,619 (GRCm39) |
F238L |
probably damaging |
Het |
Rnf40 |
A |
G |
7: 127,195,757 (GRCm39) |
K667R |
possibly damaging |
Het |
Scgb1b12 |
A |
T |
7: 32,033,920 (GRCm39) |
N60I |
probably damaging |
Het |
Serpina3n |
T |
G |
12: 104,375,321 (GRCm39) |
V131G |
probably benign |
Het |
Slc22a21 |
T |
C |
11: 53,870,328 (GRCm39) |
Y119C |
probably damaging |
Het |
Slc22a28 |
A |
G |
19: 8,094,409 (GRCm39) |
F204S |
probably damaging |
Het |
Smc6 |
T |
A |
12: 11,321,821 (GRCm39) |
D29E |
possibly damaging |
Het |
Smgc |
T |
A |
15: 91,725,601 (GRCm39) |
F40Y |
possibly damaging |
Het |
Sorcs3 |
G |
T |
19: 48,702,010 (GRCm39) |
L630F |
probably damaging |
Het |
Sphk1 |
A |
G |
11: 116,426,982 (GRCm39) |
K306E |
possibly damaging |
Het |
Spmip2 |
A |
T |
3: 79,337,330 (GRCm39) |
D46V |
probably benign |
Het |
Spsb1 |
C |
T |
4: 149,991,301 (GRCm39) |
G89D |
probably damaging |
Het |
Stat4 |
G |
T |
1: 52,115,742 (GRCm39) |
M227I |
probably benign |
Het |
Syngr4 |
A |
G |
7: 45,536,915 (GRCm39) |
V116A |
possibly damaging |
Het |
Tacc1 |
T |
C |
8: 25,730,816 (GRCm39) |
M1V |
probably null |
Het |
Tcf7l1 |
T |
G |
6: 72,608,275 (GRCm39) |
K355Q |
probably damaging |
Het |
Tmem192 |
T |
C |
8: 65,416,888 (GRCm39) |
S36P |
probably damaging |
Het |
Top3a |
G |
T |
11: 60,641,579 (GRCm39) |
N368K |
possibly damaging |
Het |
Tpk1 |
T |
A |
6: 43,323,727 (GRCm39) |
I241F |
possibly damaging |
Het |
Trappc10 |
A |
G |
10: 78,029,345 (GRCm39) |
I1064T |
possibly damaging |
Het |
Vmn1r18 |
T |
A |
6: 57,367,206 (GRCm39) |
K116M |
probably damaging |
Het |
Vmn2r40 |
A |
T |
7: 8,923,139 (GRCm39) |
H407Q |
unknown |
Het |
Vmn2r91 |
T |
A |
17: 18,327,807 (GRCm39) |
L467H |
probably damaging |
Het |
Wdr59 |
G |
T |
8: 112,202,733 (GRCm39) |
S603R |
probably damaging |
Het |
Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
Zfp324 |
A |
C |
7: 12,704,527 (GRCm39) |
K74N |
probably null |
Het |
Zfyve16 |
A |
G |
13: 92,644,707 (GRCm39) |
L1165P |
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 |
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'- AGACCTGGTAACTTTGAGCG -3'
(R):5'- GAAAAGTCTACACAGAATCTACAGG -3'
Sequencing Primer
(F):5'- ACTGGAGTTCCACACAGTTG -3'
(R):5'- CTCAAACTGGTAAAACAATAACCAC -3'
|
Posted On |
2018-08-29 |