Incidental Mutation 'R5322:N4bp2'
| ID |
404895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
N4bp2
|
| Ensembl Gene |
ENSMUSG00000037795 |
| Gene Name |
NEDD4 binding protein 2 |
| Synonyms |
LOC333789, B3bp, LOC386488 |
| MMRRC Submission |
042905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R5322 (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 A
at 65947800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 143
(N143K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087264]
[ENSMUST00000201489]
[ENSMUST00000201615]
|
| AlphaFold |
F8VQG7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087264
AA Change: N143K
PolyPhen 2
Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: N143K
| 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 |
possibly damaging
Transcript: ENSMUST00000201489
AA Change: N143K
PolyPhen 2
Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: N143K
| 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 |
possibly damaging
Transcript: ENSMUST00000201615
AA Change: N143K
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: N143K
| 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: ENSMUST00000202934
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
T |
5: 89,855,159 (GRCm39) |
|
probably null |
Het |
| Ankar |
T |
C |
1: 72,729,545 (GRCm39) |
|
probably null |
Het |
| Ankrd60 |
T |
A |
2: 173,410,610 (GRCm39) |
K303N |
possibly damaging |
Het |
| Appbp2 |
A |
G |
11: 85,086,890 (GRCm39) |
|
probably null |
Het |
| Arvcf |
T |
C |
16: 18,215,508 (GRCm39) |
M176T |
probably benign |
Het |
| Cachd1 |
T |
C |
4: 100,809,319 (GRCm39) |
I268T |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,204,484 (GRCm39) |
S933P |
probably damaging |
Het |
| Cfi |
C |
T |
3: 129,666,689 (GRCm39) |
P471S |
probably damaging |
Het |
| Ckmt2 |
G |
T |
13: 92,009,891 (GRCm39) |
T143K |
possibly damaging |
Het |
| Cnksr3 |
A |
T |
10: 7,085,078 (GRCm39) |
D15E |
probably damaging |
Het |
| Copb2 |
A |
T |
9: 98,468,029 (GRCm39) |
K680N |
probably benign |
Het |
| D2hgdh |
T |
C |
1: 93,757,620 (GRCm39) |
|
probably null |
Het |
| Dcn |
A |
T |
10: 97,353,464 (GRCm39) |
T338S |
probably benign |
Het |
| Dipk2a |
A |
G |
9: 94,402,615 (GRCm39) |
I349T |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,850,630 (GRCm39) |
G1644D |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,384,390 (GRCm39) |
I3045V |
probably benign |
Het |
| Dock3 |
G |
A |
9: 106,779,028 (GRCm39) |
T307I |
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,007,715 (GRCm39) |
I1498N |
probably benign |
Het |
| Emc1 |
A |
T |
4: 139,081,557 (GRCm39) |
N62Y |
probably damaging |
Het |
| Enpp6 |
C |
A |
8: 47,521,950 (GRCm39) |
H295N |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,779,541 (GRCm39) |
Y129C |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,172,387 (GRCm39) |
D2139E |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,550,304 (GRCm39) |
V140E |
probably damaging |
Het |
| Fignl1 |
A |
T |
11: 11,751,571 (GRCm39) |
F495I |
probably damaging |
Het |
| Gm43302 |
C |
T |
5: 105,365,347 (GRCm39) |
A554T |
probably benign |
Het |
| Gpr157 |
A |
G |
4: 150,183,309 (GRCm39) |
N160D |
probably benign |
Het |
| Il1rn |
G |
A |
2: 24,238,641 (GRCm39) |
|
probably null |
Het |
| Kctd13 |
T |
A |
7: 126,528,378 (GRCm39) |
L51Q |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,516,722 (GRCm39) |
F1561L |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,190,608 (GRCm39) |
|
probably null |
Het |
| Mib1 |
A |
G |
18: 10,792,975 (GRCm39) |
H637R |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,120,151 (GRCm39) |
N93I |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,423,119 (GRCm39) |
|
probably null |
Het |
| Myot |
T |
C |
18: 44,487,216 (GRCm39) |
F351S |
probably benign |
Het |
| Or10ac1 |
T |
C |
6: 42,515,950 (GRCm39) |
D2G |
probably benign |
Het |
| Or2ah1 |
T |
A |
2: 85,653,531 (GRCm39) |
I72N |
probably damaging |
Het |
| Or51b6b |
T |
C |
7: 103,309,879 (GRCm39) |
I193V |
possibly damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,319 (GRCm39) |
W173R |
probably benign |
Het |
| Or52n2 |
C |
T |
7: 104,542,371 (GRCm39) |
V155I |
probably benign |
Het |
| Or8b3 |
A |
T |
9: 38,314,862 (GRCm39) |
I228F |
probably damaging |
Het |
| Or8b52 |
T |
A |
9: 38,576,502 (GRCm39) |
I213L |
probably benign |
Het |
| Patl1 |
C |
T |
19: 11,898,223 (GRCm39) |
R134* |
probably null |
Het |
| Paxbp1 |
T |
C |
16: 90,812,050 (GRCm39) |
I887V |
probably benign |
Het |
| Pi4kb |
G |
A |
3: 94,901,560 (GRCm39) |
R436Q |
probably benign |
Het |
| Pla2g3 |
A |
G |
11: 3,438,686 (GRCm39) |
E112G |
probably benign |
Het |
| Ppp2r2a |
A |
G |
14: 67,276,322 (GRCm39) |
|
probably null |
Het |
| Rela |
T |
A |
19: 5,695,408 (GRCm39) |
S311R |
possibly damaging |
Het |
| Sidt1 |
T |
A |
16: 44,101,985 (GRCm39) |
|
probably benign |
Het |
| Smco2 |
T |
C |
6: 146,772,785 (GRCm39) |
L329P |
probably damaging |
Het |
| Speer4f1 |
A |
T |
5: 17,682,347 (GRCm39) |
I77F |
possibly damaging |
Het |
| Tex14 |
A |
G |
11: 87,402,298 (GRCm39) |
I462V |
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,724,306 (GRCm39) |
R385W |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,781,034 (GRCm39) |
V2974A |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,652,476 (GRCm39) |
T31I |
probably damaging |
Het |
| Zc2hc1a |
A |
G |
3: 7,616,481 (GRCm39) |
N247S |
probably benign |
Het |
| Zeb2 |
A |
C |
2: 44,887,107 (GRCm39) |
M582R |
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 |
|
|
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'- CTCTCCTCCTGATGACCAAGTATAC -3'
(R):5'- GGGTCACTGTTGCCCAAATC -3'
Sequencing Primer
(F):5'- TGATGACCAAGTATACCCATTCTC -3'
(R):5'- TTGCCCAAATCTGCAAGGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation