Incidental Mutation 'R1722:N4bp2'
ID |
191535 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
N4bp2
|
Ensembl Gene |
ENSMUSG00000037795 |
Gene Name |
NEDD4 binding protein 2 |
Synonyms |
LOC333789, B3bp, LOC386488 |
MMRRC Submission |
039754-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R1722 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
65920864-65987451 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65964225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 758
(V758A)
|
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: V758A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000084519 Gene: ENSMUSG00000037795 AA Change: V758A
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: ENSMUST00000113738
AA Change: V758A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000109367 Gene: ENSMUSG00000037795 AA Change: V758A
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 |
noncoding transcript
Transcript: ENSMUST00000200843
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201489
AA Change: V758A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000143807 Gene: ENSMUSG00000037795 AA Change: V758A
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: V758A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000144278 Gene: ENSMUSG00000037795 AA Change: V758A
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: ENSMUST00000202411
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931422A03Rik |
A |
T |
2: 103,824,273 (GRCm39) |
|
probably null |
Het |
Adss1 |
A |
T |
12: 112,602,915 (GRCm39) |
I346F |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,988,019 (GRCm39) |
L3101H |
probably damaging |
Het |
Aldh3b3 |
A |
G |
19: 4,014,871 (GRCm39) |
I123V |
possibly damaging |
Het |
Angptl1 |
C |
T |
1: 156,684,655 (GRCm39) |
P275S |
possibly damaging |
Het |
Apoa5 |
C |
T |
9: 46,181,847 (GRCm39) |
Q308* |
probably null |
Het |
Arhgef12 |
T |
C |
9: 42,932,013 (GRCm39) |
*106W |
probably null |
Het |
Atp2c1 |
A |
G |
9: 105,316,599 (GRCm39) |
Y485H |
probably benign |
Het |
Atp6v1b1 |
C |
T |
6: 83,720,074 (GRCm39) |
T3I |
possibly damaging |
Het |
Btbd7 |
A |
T |
12: 102,778,913 (GRCm39) |
I451N |
possibly damaging |
Het |
Clasp1 |
T |
G |
1: 118,518,194 (GRCm39) |
L1080R |
probably damaging |
Het |
Clec4f |
A |
G |
6: 83,623,915 (GRCm39) |
V408A |
probably benign |
Het |
Clint1 |
T |
A |
11: 45,797,233 (GRCm39) |
M438K |
possibly damaging |
Het |
Cuzd1 |
A |
T |
7: 130,913,373 (GRCm39) |
Y415N |
probably damaging |
Het |
Ddias |
A |
G |
7: 92,509,250 (GRCm39) |
F222L |
possibly damaging |
Het |
Efcab7 |
A |
T |
4: 99,757,815 (GRCm39) |
T321S |
probably benign |
Het |
Elp3 |
A |
T |
14: 65,788,846 (GRCm39) |
D393E |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,181,124 (GRCm39) |
|
probably null |
Het |
Fcgr3 |
T |
C |
1: 170,881,688 (GRCm39) |
R146G |
possibly damaging |
Het |
Fkrp |
G |
A |
7: 16,544,719 (GRCm39) |
A381V |
probably benign |
Het |
Gatad2b |
T |
G |
3: 90,262,986 (GRCm39) |
I476S |
probably damaging |
Het |
Gm1527 |
C |
T |
3: 28,975,783 (GRCm39) |
H557Y |
probably benign |
Het |
Gm2431 |
A |
T |
7: 141,811,599 (GRCm39) |
C102S |
unknown |
Het |
Hoxd13 |
A |
G |
2: 74,500,389 (GRCm39) |
N310S |
probably benign |
Het |
Il9 |
T |
A |
13: 56,627,208 (GRCm39) |
T135S |
probably benign |
Het |
Ints4 |
A |
C |
7: 97,162,786 (GRCm39) |
N476T |
probably benign |
Het |
Kcnq4 |
A |
C |
4: 120,559,624 (GRCm39) |
D525E |
probably benign |
Het |
Kncn |
A |
T |
4: 115,743,096 (GRCm39) |
Y57F |
probably damaging |
Het |
Lpl |
TGG |
TG |
8: 69,349,254 (GRCm39) |
|
probably null |
Het |
Lrrfip2 |
A |
G |
9: 111,028,829 (GRCm39) |
T351A |
probably damaging |
Het |
Madd |
T |
C |
2: 90,997,982 (GRCm39) |
E682G |
probably benign |
Het |
Marchf7 |
A |
C |
2: 60,064,526 (GRCm39) |
R267S |
probably damaging |
Het |
Mmp16 |
T |
A |
4: 18,051,767 (GRCm39) |
L252Q |
probably damaging |
Het |
Mri1 |
A |
T |
8: 84,980,554 (GRCm39) |
V296D |
possibly damaging |
Het |
Myo3a |
A |
G |
2: 22,404,638 (GRCm39) |
T665A |
probably benign |
Het |
Nbea |
T |
C |
3: 55,573,116 (GRCm39) |
D2489G |
probably damaging |
Het |
Neb |
T |
C |
2: 52,146,757 (GRCm39) |
T2836A |
probably damaging |
Het |
Nedd4l |
T |
A |
18: 65,291,010 (GRCm39) |
V203E |
probably damaging |
Het |
Nkpd1 |
C |
A |
7: 19,257,846 (GRCm39) |
Q392K |
possibly damaging |
Het |
Nploc4 |
G |
T |
11: 120,273,395 (GRCm39) |
A576E |
probably benign |
Het |
Nxph1 |
T |
A |
6: 9,247,516 (GRCm39) |
N162K |
probably damaging |
Het |
Or3a1 |
T |
C |
11: 74,225,271 (GRCm39) |
Y262C |
probably damaging |
Het |
Or7c70 |
T |
A |
10: 78,682,805 (GRCm39) |
T315S |
probably benign |
Het |
Pabpc2 |
T |
G |
18: 39,908,169 (GRCm39) |
I478S |
probably benign |
Het |
Pde7b |
G |
T |
10: 20,311,990 (GRCm39) |
H190Q |
probably damaging |
Het |
Plekha2 |
A |
T |
8: 25,532,976 (GRCm39) |
S332T |
probably benign |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rasl11a |
A |
T |
5: 146,782,052 (GRCm39) |
H9L |
probably benign |
Het |
Rer1 |
A |
T |
4: 155,159,458 (GRCm39) |
F177I |
probably damaging |
Het |
Rinl |
T |
C |
7: 28,491,669 (GRCm39) |
L74P |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 88,991,655 (GRCm39) |
V78A |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,703,508 (GRCm39) |
|
probably null |
Het |
Tenm2 |
A |
C |
11: 35,898,930 (GRCm39) |
Y2743D |
probably damaging |
Het |
Tmem101 |
T |
C |
11: 102,045,519 (GRCm39) |
Y110C |
probably damaging |
Het |
Trim9 |
T |
C |
12: 70,295,148 (GRCm39) |
N658S |
probably benign |
Het |
Ucp1 |
A |
T |
8: 84,017,317 (GRCm39) |
T36S |
probably benign |
Het |
Vmn2r43 |
A |
G |
7: 8,258,067 (GRCm39) |
I382T |
probably damaging |
Het |
Zfp142 |
C |
T |
1: 74,608,935 (GRCm39) |
R1620Q |
probably damaging |
Het |
Zfp386 |
T |
C |
12: 116,023,526 (GRCm39) |
S380P |
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 |
|
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 |
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'- CGCCTCCTGAAATGCTGGAAGAAAG -3'
(R):5'- TGTGCTCTCTCGGAGCTAAGGAAG -3'
Sequencing Primer
(F):5'- GGCAAATCATCTTTGGAAAAAATCCC -3'
(R):5'- GCAGAGGAAGGCCAGTC -3'
|
Posted On |
2014-05-14 |