Incidental Mutation 'IGL01989:N4bp1'
| ID |
182820 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
N4bp1
|
| Ensembl Gene |
ENSMUSG00000031652 |
| Gene Name |
NEDD4 binding protein 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01989
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
87567764-87612489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 87575115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 727
(V727L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034074]
|
| AlphaFold |
Q6A037 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034074
AA Change: V727L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034074
Gene: ENSMUSG00000031652
AA Change: V727L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
375 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
571 |
N/A |
INTRINSIC |
|
Pfam:RNase_Zc3h12a
|
614 |
767 |
4.7e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210029
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,862,266 (GRCm39) |
V8D |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,565,943 (GRCm39) |
T299A |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,602,462 (GRCm39) |
|
probably benign |
Het |
| Cadm3 |
G |
A |
1: 173,165,578 (GRCm39) |
|
probably benign |
Het |
| Cep164 |
G |
A |
9: 45,704,313 (GRCm39) |
|
probably benign |
Het |
| Ces2c |
C |
A |
8: 105,576,375 (GRCm39) |
N129K |
probably damaging |
Het |
| Chdh |
C |
A |
14: 29,753,688 (GRCm39) |
P199Q |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,328,694 (GRCm39) |
V3142A |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,855,994 (GRCm39) |
L254P |
probably damaging |
Het |
| Dock2 |
G |
T |
11: 34,218,053 (GRCm39) |
N1172K |
probably benign |
Het |
| Dppa5a |
T |
A |
9: 78,275,103 (GRCm39) |
E66D |
probably benign |
Het |
| F5 |
A |
G |
1: 164,003,876 (GRCm39) |
S224G |
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,794 (GRCm39) |
T159A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,824,211 (GRCm39) |
D6648V |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,317,201 (GRCm39) |
E519V |
probably benign |
Het |
| Hdac10 |
A |
G |
15: 89,009,546 (GRCm39) |
L462P |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,879,951 (GRCm39) |
L1286S |
probably damaging |
Het |
| Hnrnpll |
A |
G |
17: 80,346,169 (GRCm39) |
V364A |
probably benign |
Het |
| Hnrnpul2 |
A |
G |
19: 8,800,992 (GRCm39) |
T282A |
probably damaging |
Het |
| Il12a |
T |
A |
3: 68,598,909 (GRCm39) |
|
probably benign |
Het |
| Insl5 |
C |
A |
4: 102,883,838 (GRCm39) |
V28L |
probably benign |
Het |
| Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,113 (GRCm39) |
D398G |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,413,998 (GRCm39) |
D1137N |
probably damaging |
Het |
| Mettl18 |
C |
A |
1: 163,823,872 (GRCm39) |
D64E |
probably benign |
Het |
| Mrpl3 |
A |
G |
9: 104,948,678 (GRCm39) |
T245A |
probably benign |
Het |
| Mrps18c |
C |
A |
5: 100,949,775 (GRCm39) |
P52Q |
probably damaging |
Het |
| Myh3 |
A |
T |
11: 66,977,481 (GRCm39) |
D377V |
probably damaging |
Het |
| Npffr2 |
A |
G |
5: 89,730,831 (GRCm39) |
T254A |
probably benign |
Het |
| Nsfl1c |
C |
A |
2: 151,342,649 (GRCm39) |
T73K |
probably damaging |
Het |
| Or8a1b |
C |
T |
9: 37,623,132 (GRCm39) |
V148I |
probably damaging |
Het |
| Plxna1 |
C |
T |
6: 89,306,396 (GRCm39) |
W1442* |
probably null |
Het |
| Serpina3n |
T |
A |
12: 104,379,750 (GRCm39) |
M381K |
probably benign |
Het |
| Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
| Smtnl1 |
T |
C |
2: 84,648,814 (GRCm39) |
N147D |
probably benign |
Het |
| Sprr2j-ps |
T |
C |
3: 92,326,412 (GRCm39) |
S96P |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,344,511 (GRCm39) |
E832G |
possibly damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,702,076 (GRCm39) |
D207G |
probably benign |
Het |
| Sult1c2 |
A |
T |
17: 54,281,055 (GRCm39) |
M16K |
probably benign |
Het |
| Tmem247 |
A |
G |
17: 87,225,719 (GRCm39) |
E53G |
probably damaging |
Het |
| Tmem86a |
A |
T |
7: 46,703,187 (GRCm39) |
I105F |
probably benign |
Het |
| Tph2 |
A |
G |
10: 114,981,921 (GRCm39) |
S304P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,608,883 (GRCm39) |
D17711G |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,566,474 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,837,478 (GRCm39) |
I1729L |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,933,494 (GRCm39) |
Y351* |
probably null |
Het |
| Wfdc5 |
C |
T |
2: 164,020,651 (GRCm39) |
|
probably null |
Het |
| Wnt3 |
G |
A |
11: 103,703,233 (GRCm39) |
D239N |
probably benign |
Het |
| Zbtb8b |
T |
A |
4: 129,326,181 (GRCm39) |
E295V |
probably damaging |
Het |
| Zfp458 |
T |
C |
13: 67,407,691 (GRCm39) |
T52A |
probably damaging |
Het |
|
| Other mutations in N4bp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00653:N4bp1
|
APN |
8 |
87,588,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00659:N4bp1
|
APN |
8 |
87,588,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01484:N4bp1
|
APN |
8 |
87,571,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01788:N4bp1
|
APN |
8 |
87,587,624 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02619:N4bp1
|
APN |
8 |
87,587,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03290:N4bp1
|
APN |
8 |
87,575,161 (GRCm39) |
missense |
probably benign |
0.31 |
|
Acorn
|
UTSW |
8 |
87,588,534 (GRCm39) |
nonsense |
probably null |
|
|
oak
|
UTSW |
8 |
87,588,424 (GRCm39) |
nonsense |
probably null |
|
|
Squirrel
|
UTSW |
8 |
87,578,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Stash
|
UTSW |
8 |
87,587,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
walnut
|
UTSW |
8 |
87,573,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
winter
|
UTSW |
8 |
87,588,311 (GRCm39) |
missense |
probably benign |
|
|
R0760:N4bp1
|
UTSW |
8 |
87,573,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1202:N4bp1
|
UTSW |
8 |
87,571,515 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1653:N4bp1
|
UTSW |
8 |
87,571,576 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1878:N4bp1
|
UTSW |
8 |
87,588,169 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2325:N4bp1
|
UTSW |
8 |
87,575,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2442:N4bp1
|
UTSW |
8 |
87,588,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2867:N4bp1
|
UTSW |
8 |
87,588,033 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2867:N4bp1
|
UTSW |
8 |
87,588,033 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2926:N4bp1
|
UTSW |
8 |
87,588,424 (GRCm39) |
nonsense |
probably null |
|
|
R3625:N4bp1
|
UTSW |
8 |
87,578,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3689:N4bp1
|
UTSW |
8 |
87,587,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3863:N4bp1
|
UTSW |
8 |
87,587,055 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4872:N4bp1
|
UTSW |
8 |
87,587,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4902:N4bp1
|
UTSW |
8 |
87,588,311 (GRCm39) |
missense |
probably benign |
|
|
R4965:N4bp1
|
UTSW |
8 |
87,578,314 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5070:N4bp1
|
UTSW |
8 |
87,587,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5392:N4bp1
|
UTSW |
8 |
87,587,048 (GRCm39) |
splice site |
probably null |
|
|
R5719:N4bp1
|
UTSW |
8 |
87,578,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:N4bp1
|
UTSW |
8 |
87,579,794 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6292:N4bp1
|
UTSW |
8 |
87,579,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6350:N4bp1
|
UTSW |
8 |
87,588,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6543:N4bp1
|
UTSW |
8 |
87,588,534 (GRCm39) |
nonsense |
probably null |
|
|
R6965:N4bp1
|
UTSW |
8 |
87,571,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:N4bp1
|
UTSW |
8 |
87,587,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7172:N4bp1
|
UTSW |
8 |
87,587,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7791:N4bp1
|
UTSW |
8 |
87,579,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8084:N4bp1
|
UTSW |
8 |
87,587,636 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8220:N4bp1
|
UTSW |
8 |
87,571,315 (GRCm39) |
makesense |
probably null |
|
|
R8523:N4bp1
|
UTSW |
8 |
87,579,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8753:N4bp1
|
UTSW |
8 |
87,575,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9445:N4bp1
|
UTSW |
8 |
87,587,238 (GRCm39) |
nonsense |
probably null |
|
|
R9464:N4bp1
|
UTSW |
8 |
87,587,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0067:N4bp1
|
UTSW |
8 |
87,588,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:N4bp1
|
UTSW |
8 |
87,579,787 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation