Incidental Mutation 'R8166:N4bp2'
| ID |
633768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
N4bp2
|
| Ensembl Gene |
ENSMUSG00000037795 |
| Gene Name |
NEDD4 binding protein 2 |
| Synonyms |
LOC333789, B3bp, LOC386488 |
| MMRRC Submission |
067592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R8166 (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 G
at 65977655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 1518
(S1518A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087264]
[ENSMUST00000201489]
[ENSMUST00000201615]
|
| AlphaFold |
F8VQG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087264
AA Change: S1518A
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: S1518A
| 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: S1518A
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: S1518A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
| 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: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
C |
3: 36,144,232 (GRCm39) |
V569A |
probably benign |
Het |
| Actrt3 |
A |
G |
3: 30,652,674 (GRCm39) |
F140S |
probably damaging |
Het |
| Alx1 |
T |
A |
10: 102,845,224 (GRCm39) |
Q269L |
probably damaging |
Het |
| Amph |
G |
T |
13: 19,132,660 (GRCm39) |
A20S |
possibly damaging |
Het |
| Aqr |
T |
A |
2: 113,943,806 (GRCm39) |
M1111L |
possibly damaging |
Het |
| Atp10a |
A |
T |
7: 58,457,270 (GRCm39) |
H923L |
possibly damaging |
Het |
| Bmpr1a |
A |
C |
14: 34,147,026 (GRCm39) |
W249G |
probably damaging |
Het |
| Bmpr2 |
A |
T |
1: 59,906,740 (GRCm39) |
N611I |
probably damaging |
Het |
| Cadm2 |
A |
G |
16: 66,750,197 (GRCm39) |
L9S |
probably benign |
Het |
| Ccdc102a |
C |
A |
8: 95,639,944 (GRCm39) |
A117S |
possibly damaging |
Het |
| Clec4f |
G |
T |
6: 83,629,624 (GRCm39) |
S311R |
possibly damaging |
Het |
| Dchs2 |
T |
A |
3: 83,261,640 (GRCm39) |
I2636N |
probably benign |
Het |
| Dync2h1 |
T |
A |
9: 7,129,089 (GRCm39) |
K1809* |
probably null |
Het |
| Efs |
C |
T |
14: 55,158,077 (GRCm39) |
R108Q |
probably damaging |
Het |
| Eif5b |
A |
G |
1: 38,087,901 (GRCm39) |
T966A |
probably benign |
Het |
| Entrep2 |
A |
G |
7: 64,409,153 (GRCm39) |
S414P |
probably benign |
Het |
| Flnc |
A |
C |
6: 29,433,731 (GRCm39) |
N92H |
probably damaging |
Het |
| Gm13030 |
A |
T |
4: 138,598,533 (GRCm39) |
L130H |
unknown |
Het |
| Gm17190 |
A |
C |
13: 96,219,142 (GRCm39) |
R159S |
unknown |
Het |
| Hipk1 |
T |
C |
3: 103,685,489 (GRCm39) |
Y42C |
possibly damaging |
Het |
| Ifi207 |
C |
A |
1: 173,557,166 (GRCm39) |
C524F |
possibly damaging |
Het |
| Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
| Ighv8-9 |
G |
T |
12: 115,432,212 (GRCm39) |
P33H |
probably damaging |
Het |
| Igkv8-34 |
A |
G |
6: 70,021,619 (GRCm39) |
V15A |
probably benign |
Het |
| Irx5 |
T |
A |
8: 93,086,712 (GRCm39) |
|
probably null |
Het |
| Kcnh4 |
A |
G |
11: 100,632,712 (GRCm39) |
L925P |
probably benign |
Het |
| Kctd9 |
G |
A |
14: 67,967,141 (GRCm39) |
R153H |
possibly damaging |
Het |
| Lats1 |
A |
G |
10: 7,577,880 (GRCm39) |
T335A |
probably benign |
Het |
| Med20 |
A |
G |
17: 47,924,027 (GRCm39) |
T52A |
probably benign |
Het |
| Msantd4 |
A |
T |
9: 4,384,095 (GRCm39) |
T139S |
possibly damaging |
Het |
| Mtif3 |
T |
C |
5: 146,896,052 (GRCm39) |
T12A |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,515 (GRCm39) |
N507S |
probably benign |
Het |
| Nasp |
A |
T |
4: 116,468,112 (GRCm39) |
V291E |
probably benign |
Het |
| Ncapg2 |
T |
G |
12: 116,376,036 (GRCm39) |
D40E |
probably benign |
Het |
| Nipsnap1 |
A |
G |
11: 4,834,057 (GRCm39) |
D103G |
probably benign |
Het |
| Nsmce1 |
A |
G |
7: 125,070,319 (GRCm39) |
L164P |
probably damaging |
Het |
| Ogdhl |
G |
A |
14: 32,059,763 (GRCm39) |
V426I |
probably damaging |
Het |
| Or5p66 |
A |
G |
7: 107,885,904 (GRCm39) |
V143A |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,811,572 (GRCm39) |
E217G |
possibly damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,106,875 (GRCm39) |
I649V |
probably benign |
Het |
| Prxl2c |
A |
T |
13: 64,456,921 (GRCm39) |
Y101N |
|
Het |
| Pum2 |
G |
A |
12: 8,771,739 (GRCm39) |
A361T |
possibly damaging |
Het |
| Rictor |
G |
A |
15: 6,798,815 (GRCm39) |
|
probably null |
Het |
| Rps6ka4 |
G |
A |
19: 6,814,811 (GRCm39) |
R264W |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
T |
C |
8: 89,755,146 (GRCm39) |
T1278A |
probably benign |
Het |
| Scg2 |
T |
A |
1: 79,413,300 (GRCm39) |
K434N |
possibly damaging |
Het |
| Suclg1 |
T |
A |
6: 73,237,555 (GRCm39) |
V100D |
probably damaging |
Het |
| Tarbp1 |
T |
G |
8: 127,153,867 (GRCm39) |
E1528D |
possibly damaging |
Het |
| Trgc1 |
A |
G |
13: 19,400,772 (GRCm39) |
N167S |
|
Het |
| Tshz2 |
C |
A |
2: 169,725,575 (GRCm39) |
T57K |
probably benign |
Het |
| Ttc22 |
G |
A |
4: 106,491,673 (GRCm39) |
R229H |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,840,855 (GRCm39) |
V1563A |
probably benign |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,888 (GRCm39) |
M70K |
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,428,904 (GRCm39) |
I724N |
probably benign |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,744 (GRCm39) |
L26P |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,120,610 (GRCm39) |
S955N |
probably benign |
Het |
| Zfp518b |
C |
A |
5: 38,831,838 (GRCm39) |
A56S |
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 |
|
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 |
|
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'- CTGAACACATCCAGTTGCCTC -3'
(R):5'- GAACGAACTGTAACCGGTTTTCC -3'
Sequencing Primer
(F):5'- ACCTTCCTGCTTTTGTATGATAGC -3'
(R):5'- CGCTTCACCTGCTGAGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation