Incidental Mutation 'R4978:N4bp2'
| ID |
384590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
N4bp2
|
| Ensembl Gene |
ENSMUSG00000037795 |
| Gene Name |
NEDD4 binding protein 2 |
| Synonyms |
LOC333789, B3bp, LOC386488 |
| MMRRC Submission |
042573-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R4978 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65920864-65987451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65947583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 71
(F71S)
|
| 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: F71S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: F71S
| 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: F71S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: F71S
| 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: F71S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: F71S
| 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
|
| Meta Mutation Damage Score |
0.2558 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (70/73) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
G |
A |
8: 56,324,436 (GRCm39) |
P673S |
probably damaging |
Het |
| Adam39 |
T |
C |
8: 41,278,374 (GRCm39) |
I255T |
possibly damaging |
Het |
| Adgrg6 |
A |
G |
10: 14,296,205 (GRCm39) |
F1093S |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,618,381 (GRCm39) |
|
probably benign |
Het |
| Avil |
A |
T |
10: 126,854,265 (GRCm39) |
N744I |
probably benign |
Het |
| B430305J03Rik |
T |
C |
3: 61,271,440 (GRCm39) |
|
probably benign |
Het |
| Caps2 |
A |
T |
10: 112,018,399 (GRCm39) |
Q141L |
probably benign |
Het |
| Capza2 |
T |
A |
6: 17,662,114 (GRCm39) |
D201E |
probably null |
Het |
| Ccdc7b |
T |
C |
8: 129,836,688 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
C |
T |
4: 148,093,227 (GRCm39) |
V818I |
probably benign |
Het |
| Cpeb4 |
C |
T |
11: 31,881,509 (GRCm39) |
H723Y |
probably null |
Het |
| Cspp1 |
T |
A |
1: 10,153,742 (GRCm39) |
F384I |
possibly damaging |
Het |
| Cyp2c50 |
T |
G |
19: 40,086,501 (GRCm39) |
V355G |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dpys |
A |
T |
15: 39,690,332 (GRCm39) |
D340E |
possibly damaging |
Het |
| Dsp |
T |
A |
13: 38,366,210 (GRCm39) |
L548Q |
probably damaging |
Het |
| Dyrk2 |
A |
T |
10: 118,696,252 (GRCm39) |
D335E |
probably benign |
Het |
| Etaa1 |
T |
C |
11: 17,896,581 (GRCm39) |
D512G |
probably damaging |
Het |
| Fam210b |
G |
C |
2: 172,187,585 (GRCm39) |
A2P |
probably damaging |
Het |
| Fbxo9 |
G |
A |
9: 77,993,168 (GRCm39) |
|
probably benign |
Het |
| Fh1 |
A |
T |
1: 175,431,533 (GRCm39) |
M451K |
probably damaging |
Het |
| Flrt1 |
A |
G |
19: 7,074,241 (GRCm39) |
L102P |
probably damaging |
Het |
| Gins2 |
A |
G |
8: 121,315,550 (GRCm39) |
L40S |
possibly damaging |
Het |
| Gm5436 |
G |
A |
12: 84,305,461 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7298 |
T |
G |
6: 121,710,076 (GRCm39) |
|
probably null |
Het |
| Gm7353 |
A |
G |
7: 3,160,038 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd1a |
T |
C |
7: 30,832,213 (GRCm39) |
E608G |
possibly damaging |
Het |
| Hcls1 |
T |
C |
16: 36,758,222 (GRCm39) |
W38R |
probably damaging |
Het |
| Ik |
C |
T |
18: 36,880,468 (GRCm39) |
P51S |
possibly damaging |
Het |
| Irx1 |
A |
G |
13: 72,111,604 (GRCm39) |
S2P |
possibly damaging |
Het |
| Kng2 |
T |
A |
16: 22,806,666 (GRCm39) |
N511I |
probably damaging |
Het |
| Limk2 |
G |
T |
11: 3,359,069 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
G |
2: 121,131,623 (GRCm39) |
V813G |
probably benign |
Het |
| Mast1 |
T |
C |
8: 85,662,416 (GRCm39) |
T31A |
probably damaging |
Het |
| Neurod1 |
C |
T |
2: 79,284,571 (GRCm39) |
G271R |
probably damaging |
Het |
| Or52x1 |
T |
C |
7: 104,853,398 (GRCm39) |
I51V |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,651,654 (GRCm39) |
T41A |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,764,492 (GRCm39) |
S4322T |
probably benign |
Het |
| Pde9a |
T |
A |
17: 31,692,197 (GRCm39) |
D497E |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,478,169 (GRCm39) |
S98P |
possibly damaging |
Het |
| Prl2c1 |
A |
G |
13: 28,041,553 (GRCm39) |
T192A |
probably benign |
Het |
| Ptpn18 |
T |
C |
1: 34,508,894 (GRCm39) |
|
probably benign |
Het |
| Rab27b |
C |
T |
18: 70,127,585 (GRCm39) |
V68I |
probably benign |
Het |
| Reep5 |
A |
G |
18: 34,506,349 (GRCm39) |
F9S |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,313,798 (GRCm39) |
N1328D |
probably damaging |
Het |
| Slc25a13 |
G |
A |
6: 6,042,300 (GRCm39) |
S626F |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,753,470 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
T |
A |
10: 59,966,911 (GRCm39) |
F332I |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,082,891 (GRCm39) |
R1039Q |
possibly damaging |
Het |
| Thap1 |
AGCAGCATCTGCTCG |
AG |
8: 26,650,882 (GRCm39) |
|
probably null |
Het |
| Tradd |
T |
C |
8: 105,985,900 (GRCm39) |
Q217R |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,205,055 (GRCm39) |
I550T |
probably benign |
Het |
| Vgll3 |
T |
A |
16: 65,612,572 (GRCm39) |
Y18* |
probably null |
Het |
| Vmn1r49 |
G |
T |
6: 90,049,872 (GRCm39) |
N43K |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,517,808 (GRCm39) |
N82S |
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,211,460 (GRCm39) |
D90G |
possibly damaging |
Het |
| Vwa3b |
A |
G |
1: 37,154,752 (GRCm39) |
Y512C |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 33,000,295 (GRCm39) |
D434G |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,405,183 (GRCm39) |
|
probably benign |
Het |
| Zfp286 |
A |
G |
11: 62,679,754 (GRCm39) |
|
probably null |
Het |
| Zkscan17 |
A |
G |
11: 59,384,053 (GRCm39) |
V123A |
possibly damaging |
Het |
| Zkscan2 |
C |
G |
7: 123,094,542 (GRCm39) |
A211P |
possibly damaging |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
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 |
|
|
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'- TGTCTGCCACTGATGCCAAG -3'
(R):5'- CTCTCAGGCGCATTCAAAACTG -3'
Sequencing Primer
(F):5'- CAAGGGGGCAGAGTCGTC -3'
(R):5'- TTCAAAACTGAATGTGAAGTTGGTGG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation