Incidental Mutation 'R5079:N4bp2'
| ID |
387013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
N4bp2
|
| Ensembl Gene |
ENSMUSG00000037795 |
| Gene Name |
NEDD4 binding protein 2 |
| Synonyms |
LOC333789, B3bp, LOC386488 |
| MMRRC Submission |
042668-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R5079 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65920864-65987451 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 65969320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 1361
(G1361R)
|
| 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: G1361R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084519
Gene: ENSMUSG00000037795
AA Change: G1361R
| 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 |
noncoding transcript
Transcript: ENSMUST00000127411
AA Change: G32R
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201489
AA Change: G1361R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143807
Gene: ENSMUSG00000037795
AA Change: G1361R
| 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: G1361R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144278
Gene: ENSMUSG00000037795
AA Change: G1361R
| 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: ENSMUST00000202411
|
| Meta Mutation Damage Score |
0.0945 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.6%
|
| Validation Efficiency |
90% (63/70) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
C |
5: 109,885,196 (GRCm39) |
S221G |
probably benign |
Het |
| Abca9 |
A |
T |
11: 110,036,395 (GRCm39) |
F571L |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 111,423,826 (GRCm39) |
M284K |
possibly damaging |
Het |
| Ankrd16 |
A |
G |
2: 11,783,710 (GRCm39) |
D104G |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,817,168 (GRCm39) |
D230G |
probably damaging |
Het |
| Casc3 |
C |
T |
11: 98,701,252 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,965,153 (GRCm39) |
|
probably null |
Het |
| Cpxm2 |
C |
T |
7: 131,756,014 (GRCm39) |
|
probably null |
Het |
| Crisp1 |
A |
T |
17: 40,619,867 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
T |
C |
4: 133,801,564 (GRCm39) |
I908T |
possibly damaging |
Het |
| Csn3 |
T |
C |
5: 88,077,626 (GRCm39) |
V44A |
possibly damaging |
Het |
| Dipk1c |
A |
T |
18: 84,748,702 (GRCm39) |
H100L |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,369,474 (GRCm39) |
D102E |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,525,705 (GRCm39) |
Y111C |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,910,423 (GRCm39) |
S1860G |
probably benign |
Het |
| Gba2 |
G |
T |
4: 43,568,640 (GRCm39) |
|
probably benign |
Het |
| Ggta1 |
A |
G |
2: 35,312,249 (GRCm39) |
I43T |
possibly damaging |
Het |
| Glb1l2 |
T |
C |
9: 26,682,405 (GRCm39) |
I149V |
probably benign |
Het |
| Gm5084 |
T |
A |
13: 60,360,639 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5591 |
G |
T |
7: 38,221,560 (GRCm39) |
P170T |
probably benign |
Het |
| Gucy2d |
A |
T |
7: 98,107,475 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
T |
C |
17: 27,317,397 (GRCm39) |
F851L |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,970,666 (GRCm39) |
I684N |
probably damaging |
Het |
| Klra17 |
C |
A |
6: 129,849,159 (GRCm39) |
K138N |
possibly damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,830,769 (GRCm39) |
H282L |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,931,938 (GRCm39) |
I3522T |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,044,000 (GRCm39) |
T312A |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,844,214 (GRCm39) |
R313G |
probably damaging |
Het |
| Nbas |
A |
T |
12: 13,424,712 (GRCm39) |
I984F |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,236,063 (GRCm39) |
Q579L |
possibly damaging |
Het |
| Nme9 |
A |
G |
9: 99,341,755 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or5w13 |
C |
A |
2: 87,523,552 (GRCm39) |
V225F |
probably damaging |
Het |
| Ormdl1 |
T |
C |
1: 53,348,093 (GRCm39) |
V145A |
probably damaging |
Het |
| Paxbp1 |
C |
A |
16: 90,822,034 (GRCm39) |
|
probably null |
Het |
| Pcnx1 |
C |
A |
12: 82,025,863 (GRCm39) |
S1530* |
probably null |
Het |
| Pogk |
A |
G |
1: 166,226,733 (GRCm39) |
W473R |
probably damaging |
Het |
| Pot1b |
A |
T |
17: 55,976,801 (GRCm39) |
S374T |
probably benign |
Het |
| Rcn1 |
A |
G |
2: 105,229,402 (GRCm39) |
F50S |
probably damaging |
Het |
| Rcvrn |
T |
A |
11: 67,593,767 (GRCm39) |
I186N |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,298,619 (GRCm39) |
I664N |
probably damaging |
Het |
| Sall2 |
G |
T |
14: 52,552,211 (GRCm39) |
A326E |
probably damaging |
Het |
| Sh2d6 |
G |
A |
6: 72,496,833 (GRCm39) |
P66S |
probably benign |
Het |
| Slc6a20b |
T |
A |
9: 123,427,563 (GRCm39) |
S449C |
probably damaging |
Het |
| Slc9a3 |
A |
T |
13: 74,312,406 (GRCm39) |
N668Y |
probably damaging |
Het |
| Slco1a8 |
A |
C |
6: 141,918,073 (GRCm39) |
I601R |
probably benign |
Het |
| Sorcs2 |
T |
G |
5: 36,200,796 (GRCm39) |
K584T |
probably damaging |
Het |
| Stam |
T |
C |
2: 14,079,350 (GRCm39) |
M8T |
probably benign |
Het |
| Styk1 |
G |
A |
6: 131,278,676 (GRCm39) |
P333S |
probably damaging |
Het |
| Sycp1 |
A |
G |
3: 102,786,116 (GRCm39) |
C589R |
possibly damaging |
Het |
| Tas2r123 |
A |
G |
6: 132,824,681 (GRCm39) |
I193V |
probably benign |
Het |
| Tnks1bp1 |
C |
A |
2: 84,892,970 (GRCm39) |
Q304K |
probably damaging |
Het |
| Traf3ip2 |
T |
C |
10: 39,502,473 (GRCm39) |
L207P |
probably damaging |
Het |
| Usp49 |
A |
G |
17: 47,984,146 (GRCm39) |
S384G |
possibly damaging |
Het |
| Vezt |
T |
C |
10: 93,856,486 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
C |
A |
7: 12,866,253 (GRCm39) |
M11I |
probably benign |
Het |
| Vmn2r39 |
A |
G |
7: 9,026,489 (GRCm39) |
V504A |
probably benign |
Het |
| Wapl |
G |
A |
14: 34,446,714 (GRCm39) |
A607T |
probably damaging |
Het |
| Zfp638 |
A |
G |
6: 83,906,438 (GRCm39) |
N201S |
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 |
|
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'- GCTCACTGCCCAGCATTAAC -3'
(R):5'- AAGTCATGTTTCTCCTGTAAGGC -3'
Sequencing Primer
(F):5'- ACTGCCCAGCATTAACTGTTTTG -3'
(R):5'- CCTGTAAGGCAATTTCTTCTGAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation