Incidental Mutation 'R7240:N4bp2'
| ID |
563134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
N4bp2
|
| Ensembl Gene |
ENSMUSG00000037795 |
| Gene Name |
NEDD4 binding protein 2 |
| Synonyms |
LOC333789, B3bp, LOC386488 |
| MMRRC Submission |
045347-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R7240 (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 A
at 65951888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 431
(V431D)
|
| 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: V431D
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: V431D
| 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: V431D
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: V431D
| 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: V431D
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: V431D
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (50/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210017I01Rik |
A |
G |
3: 92,512,382 (GRCm39) |
I59T |
unknown |
Het |
| Aspm |
C |
T |
1: 139,406,389 (GRCm39) |
Q1759* |
probably null |
Het |
| Atn1 |
A |
T |
6: 124,724,861 (GRCm39) |
I124K |
unknown |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
C |
T |
12: 100,911,198 (GRCm39) |
V879M |
probably benign |
Het |
| Cd300c |
A |
G |
11: 114,850,609 (GRCm39) |
C65R |
possibly damaging |
Het |
| Cd69 |
A |
T |
6: 129,247,005 (GRCm39) |
S112T |
possibly damaging |
Het |
| Cdh19 |
T |
C |
1: 110,821,137 (GRCm39) |
T534A |
probably benign |
Het |
| Cdk5rap2 |
T |
A |
4: 70,210,145 (GRCm39) |
D701V |
probably damaging |
Het |
| D130052B06Rik |
A |
G |
11: 33,573,874 (GRCm39) |
H157R |
possibly damaging |
Het |
| Dpf1 |
T |
A |
7: 29,011,052 (GRCm39) |
F150L |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,416,166 (GRCm39) |
L689P |
probably damaging |
Het |
| Dstyk |
G |
A |
1: 132,381,861 (GRCm39) |
M538I |
probably benign |
Het |
| E4f1 |
T |
A |
17: 24,663,299 (GRCm39) |
I669F |
probably damaging |
Het |
| Gm7138 |
T |
C |
10: 77,612,589 (GRCm39) |
T64A |
unknown |
Het |
| Gnai2 |
A |
C |
9: 107,492,972 (GRCm39) |
D310E |
|
Het |
| Iqca1 |
A |
G |
1: 89,998,272 (GRCm39) |
V567A |
possibly damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,409,587 (GRCm39) |
N249K |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,110,396 (GRCm39) |
V1093A |
possibly damaging |
Het |
| Mfap3 |
A |
G |
11: 57,420,582 (GRCm39) |
K188E |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,795,445 (GRCm39) |
T792A |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,581,603 (GRCm39) |
H592R |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,362,317 (GRCm39) |
C202R |
probably benign |
Het |
| Or10j2 |
T |
C |
1: 173,098,561 (GRCm39) |
I273T |
probably benign |
Het |
| Or2a7 |
A |
G |
6: 43,151,435 (GRCm39) |
K172E |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,567,395 (GRCm39) |
S264P |
probably benign |
Het |
| Or5p72 |
A |
G |
7: 108,022,140 (GRCm39) |
M121V |
probably damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,009 (GRCm39) |
D70G |
probably benign |
Het |
| Or8g24 |
A |
T |
9: 38,989,906 (GRCm39) |
M45K |
probably damaging |
Het |
| Parpbp |
G |
A |
10: 87,960,802 (GRCm39) |
T228I |
probably damaging |
Het |
| Pcdhgb8 |
G |
A |
18: 37,896,756 (GRCm39) |
V609M |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,100,830 (GRCm39) |
N543S |
probably damaging |
Het |
| Puf60 |
A |
G |
15: 75,944,388 (GRCm39) |
|
probably benign |
Het |
| Rbm6 |
A |
T |
9: 107,730,095 (GRCm39) |
D184E |
probably damaging |
Het |
| Rnase9 |
A |
C |
14: 51,276,436 (GRCm39) |
S181A |
probably benign |
Het |
| Rnpc3 |
T |
A |
3: 113,410,480 (GRCm39) |
R270S |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,322,374 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,751,440 (GRCm39) |
S3715G |
possibly damaging |
Het |
| Scn3a |
A |
T |
2: 65,299,386 (GRCm39) |
D1373E |
possibly damaging |
Het |
| Serpina3k |
T |
G |
12: 104,306,861 (GRCm39) |
I31S |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,196,599 (GRCm39) |
F712L |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,138,875 (GRCm39) |
V529A |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,696,239 (GRCm39) |
N58S |
probably benign |
Het |
| Tmc2 |
C |
T |
2: 130,076,724 (GRCm39) |
T350I |
possibly damaging |
Het |
| Tpst2 |
T |
C |
5: 112,455,544 (GRCm39) |
C28R |
probably benign |
Het |
| Trbv21 |
A |
T |
6: 41,179,892 (GRCm39) |
K69N |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,771,710 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,679,334 (GRCm39) |
V10796A |
unknown |
Het |
| Ush2a |
A |
G |
1: 188,643,858 (GRCm39) |
T4407A |
possibly damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,672,225 (GRCm39) |
H726R |
probably benign |
Het |
| Zfp777 |
A |
G |
6: 48,021,383 (GRCm39) |
S80P |
probably benign |
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 |
|
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'- TGCCAGGCTTTTGTCTTAAGGC -3'
(R):5'- ACTCCTCTCATTTCTCTGAAGACAG -3'
Sequencing Primer
(F):5'- TGTCTTAAGGCTGGAGGGTAAAG -3'
(R):5'- TCTGAAGACAGAGAAATACAGCTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation