Incidental Mutation 'R7103:N4bp2'
ID |
550983 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
N4bp2
|
Ensembl Gene |
ENSMUSG00000037795 |
Gene Name |
NEDD4 binding protein 2 |
Synonyms |
LOC333789, B3bp, LOC386488 |
MMRRC Submission |
045195-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R7103 (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 C
at 65964189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 746
(V746A)
|
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: V746A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000084519 Gene: ENSMUSG00000037795 AA Change: V746A
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: V746A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000143807 Gene: ENSMUSG00000037795 AA Change: V746A
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: V746A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000144278 Gene: ENSMUSG00000037795 AA Change: V746A
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (61/62) |
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 |
Adamts2 |
A |
G |
11: 50,628,181 (GRCm39) |
T294A |
probably damaging |
Het |
Adamtsl2 |
G |
A |
2: 26,997,473 (GRCm39) |
V893I |
probably damaging |
Het |
Amph |
T |
A |
13: 19,333,908 (GRCm39) |
D656E |
probably benign |
Het |
Aoah |
T |
C |
13: 21,207,485 (GRCm39) |
F568S |
probably damaging |
Het |
Atr |
G |
A |
9: 95,747,425 (GRCm39) |
G236S |
probably damaging |
Het |
Brd3 |
T |
A |
2: 27,340,406 (GRCm39) |
Q601L |
probably damaging |
Het |
Ccar2 |
T |
C |
14: 70,379,426 (GRCm39) |
E524G |
probably damaging |
Het |
Cog2 |
T |
C |
8: 125,267,853 (GRCm39) |
|
probably null |
Het |
Csnka2ip |
C |
A |
16: 64,299,120 (GRCm39) |
V415F |
unknown |
Het |
Dmp1 |
A |
T |
5: 104,359,729 (GRCm39) |
D135V |
probably damaging |
Het |
Dtna |
T |
C |
18: 23,786,436 (GRCm39) |
|
probably null |
Het |
Endou |
A |
G |
15: 97,616,810 (GRCm39) |
S238P |
probably damaging |
Het |
Ep400 |
T |
A |
5: 110,881,651 (GRCm39) |
E779D |
unknown |
Het |
Fcgbp |
A |
G |
7: 27,784,387 (GRCm39) |
E149G |
probably benign |
Het |
G6pc1 |
C |
A |
11: 101,265,413 (GRCm39) |
|
probably null |
Het |
Gmeb1 |
T |
C |
4: 131,962,179 (GRCm39) |
H160R |
probably damaging |
Het |
Gramd1b |
T |
C |
9: 40,312,902 (GRCm39) |
Y22C |
unknown |
Het |
Hcrtr2 |
C |
T |
9: 76,161,793 (GRCm39) |
G199D |
probably benign |
Het |
Hoxb2 |
T |
C |
11: 96,244,447 (GRCm39) |
F353L |
possibly damaging |
Het |
Itpr2 |
C |
A |
6: 146,226,572 (GRCm39) |
V1391F |
probably damaging |
Het |
Jakmip2 |
T |
A |
18: 43,673,648 (GRCm39) |
|
probably null |
Het |
Kcnmb4 |
T |
C |
10: 116,309,164 (GRCm39) |
Y88C |
possibly damaging |
Het |
Kif1a |
T |
C |
1: 93,005,507 (GRCm39) |
Y89C |
probably damaging |
Het |
Kif23 |
T |
A |
9: 61,827,174 (GRCm39) |
K892N |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,664,936 (GRCm39) |
S646T |
probably benign |
Het |
Lig3 |
T |
A |
11: 82,688,138 (GRCm39) |
M709K |
probably benign |
Het |
Mindy3 |
C |
A |
2: 12,405,885 (GRCm39) |
A137S |
possibly damaging |
Het |
Mis18bp1 |
T |
C |
12: 65,196,057 (GRCm39) |
E569G |
possibly damaging |
Het |
Misp |
T |
A |
10: 79,662,999 (GRCm39) |
L472Q |
probably damaging |
Het |
Mrps5 |
A |
T |
2: 127,443,330 (GRCm39) |
T303S |
probably damaging |
Het |
Msh3 |
T |
G |
13: 92,411,308 (GRCm39) |
I630L |
probably benign |
Het |
Muc21 |
C |
A |
17: 35,932,432 (GRCm39) |
A585S |
unknown |
Het |
Myo16 |
A |
G |
8: 10,619,673 (GRCm39) |
Y1408C |
unknown |
Het |
Oga |
G |
A |
19: 45,771,605 (GRCm39) |
|
probably benign |
Het |
Or4c120 |
A |
G |
2: 89,000,827 (GRCm39) |
I243T |
possibly damaging |
Het |
Or4d11 |
A |
G |
19: 12,013,752 (GRCm39) |
M118T |
probably damaging |
Het |
Or5p56 |
A |
G |
7: 107,589,805 (GRCm39) |
T78A |
possibly damaging |
Het |
Ostf1 |
C |
T |
19: 18,573,715 (GRCm39) |
M44I |
probably null |
Het |
Pik3c2b |
T |
G |
1: 133,033,712 (GRCm39) |
L1572R |
probably damaging |
Het |
Pilra |
T |
C |
5: 137,829,488 (GRCm39) |
D192G |
possibly damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,437,027 (GRCm39) |
I3462V |
probably benign |
Het |
Plekhh1 |
A |
G |
12: 79,113,429 (GRCm39) |
D619G |
probably benign |
Het |
Pramel31 |
C |
T |
4: 144,090,297 (GRCm39) |
R446C |
probably benign |
Het |
Ptprb |
T |
A |
10: 116,174,718 (GRCm39) |
Y797N |
probably damaging |
Het |
Rb1 |
T |
C |
14: 73,500,084 (GRCm39) |
D521G |
probably damaging |
Het |
Rnf17 |
T |
G |
14: 56,708,763 (GRCm39) |
F728V |
possibly damaging |
Het |
Slc16a4 |
T |
C |
3: 107,218,787 (GRCm39) |
S463P |
probably damaging |
Het |
Slc4a1 |
A |
T |
11: 102,244,693 (GRCm39) |
I634K |
probably damaging |
Het |
Slc4a1ap |
T |
C |
5: 31,701,201 (GRCm39) |
V634A |
probably benign |
Het |
Spam1 |
A |
G |
6: 24,800,583 (GRCm39) |
M441V |
probably benign |
Het |
Teddm3 |
A |
C |
16: 20,971,729 (GRCm39) |
L280* |
probably null |
Het |
Tmem231 |
T |
C |
8: 112,645,517 (GRCm39) |
|
probably null |
Het |
Tom1l1 |
T |
C |
11: 90,561,907 (GRCm39) |
|
probably null |
Het |
Topors |
C |
T |
4: 40,261,706 (GRCm39) |
G526D |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,790,911 (GRCm39) |
I649F |
possibly damaging |
Het |
Ttc16 |
T |
A |
2: 32,664,440 (GRCm39) |
M66L |
probably benign |
Het |
Tubgcp6 |
A |
G |
15: 88,985,232 (GRCm39) |
F1619L |
probably damaging |
Het |
Vps13d |
G |
T |
4: 144,842,062 (GRCm39) |
A2619E |
|
Het |
Vps8 |
G |
A |
16: 21,345,191 (GRCm39) |
R838H |
probably damaging |
Het |
Vwde |
T |
A |
6: 13,215,799 (GRCm39) |
M86L |
probably benign |
Het |
Zfp64 |
A |
T |
2: 168,768,357 (GRCm39) |
D418E |
probably benign |
Het |
Zfp952 |
C |
T |
17: 33,222,606 (GRCm39) |
P362S |
possibly damaging |
Het |
Zglp1 |
T |
C |
9: 20,977,368 (GRCm39) |
E149G |
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 |
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'- GCCTCCTGAAATGCTGGAAG -3'
(R):5'- AGCTTTTGGCATTCTCGGTC -3'
Sequencing Primer
(F):5'- CCTCCTGAAATGCTGGAAGAAAGAAC -3'
(R):5'- GGCATTCTCGGTCTGTGCTC -3'
|
Posted On |
2019-05-15 |