Incidental Mutation 'IGL01788:N4bp1'
ID |
155139 |
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 # |
IGL01788
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
87567764-87612489 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87587624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 438
(V438E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034074
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034074]
|
AlphaFold |
Q6A037 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034074
AA Change: V438E
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000034074 Gene: ENSMUSG00000031652 AA Change: V438E
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230009I02Rik |
T |
G |
11: 50,982,542 (GRCm39) |
|
noncoding transcript |
Het |
Acp6 |
A |
G |
3: 97,073,198 (GRCm39) |
T80A |
probably damaging |
Het |
Adamtsl5 |
T |
C |
10: 80,180,757 (GRCm39) |
T102A |
probably benign |
Het |
Adcy6 |
C |
A |
15: 98,494,400 (GRCm39) |
E812* |
probably null |
Het |
Apol6 |
G |
A |
15: 76,935,216 (GRCm39) |
V162I |
possibly damaging |
Het |
Atp6v1h |
T |
A |
1: 5,220,206 (GRCm39) |
M396K |
possibly damaging |
Het |
B3gnt8 |
A |
G |
7: 25,328,613 (GRCm39) |
T348A |
probably damaging |
Het |
Cgnl1 |
A |
G |
9: 71,562,672 (GRCm39) |
V869A |
probably benign |
Het |
Dcaf5 |
A |
T |
12: 80,395,098 (GRCm39) |
I357N |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,749,903 (GRCm39) |
I165V |
probably benign |
Het |
Dlgap2 |
T |
A |
8: 14,893,631 (GRCm39) |
I982K |
probably benign |
Het |
Dop1a |
A |
T |
9: 86,413,772 (GRCm39) |
H1891L |
probably benign |
Het |
Fhad1 |
A |
C |
4: 141,660,113 (GRCm39) |
S65R |
probably benign |
Het |
Fn1 |
A |
G |
1: 71,652,996 (GRCm39) |
I1331T |
probably damaging |
Het |
Fto |
A |
T |
8: 92,136,359 (GRCm39) |
Y211F |
probably benign |
Het |
Gm3278 |
A |
C |
14: 16,080,370 (GRCm39) |
R60S |
probably benign |
Het |
Ifna9 |
A |
G |
4: 88,510,097 (GRCm39) |
S176P |
probably damaging |
Het |
Klk1 |
T |
C |
7: 43,878,407 (GRCm39) |
I189T |
probably benign |
Het |
Mcph1 |
G |
A |
8: 18,682,419 (GRCm39) |
G519R |
probably damaging |
Het |
Mcph1 |
G |
A |
8: 18,682,420 (GRCm39) |
G519E |
probably damaging |
Het |
Ncapg |
T |
A |
5: 45,828,423 (GRCm39) |
V58E |
probably damaging |
Het |
Nid2 |
T |
A |
14: 19,858,047 (GRCm39) |
S1054T |
probably damaging |
Het |
Nlrp4a |
A |
T |
7: 26,153,492 (GRCm39) |
Y681F |
probably benign |
Het |
Or4f57 |
T |
C |
2: 111,791,352 (GRCm39) |
D22G |
probably benign |
Het |
Or4k15c |
A |
G |
14: 50,321,959 (GRCm39) |
Y60H |
probably damaging |
Het |
Or52e19b |
C |
A |
7: 103,032,770 (GRCm39) |
M146I |
probably benign |
Het |
Or5b94 |
G |
A |
19: 12,652,442 (GRCm39) |
R291K |
probably damaging |
Het |
Papln |
A |
T |
12: 83,822,236 (GRCm39) |
T364S |
probably benign |
Het |
Pcdh18 |
C |
A |
3: 49,710,371 (GRCm39) |
E315* |
probably null |
Het |
Pmel |
G |
A |
10: 128,553,701 (GRCm39) |
R445Q |
probably damaging |
Het |
Ppp1r12b |
C |
T |
1: 134,821,245 (GRCm39) |
V182I |
possibly damaging |
Het |
Ptprn2 |
A |
G |
12: 116,864,607 (GRCm39) |
T541A |
probably damaging |
Het |
Rbl1 |
A |
T |
2: 157,005,576 (GRCm39) |
N813K |
probably benign |
Het |
Sash1 |
C |
A |
10: 8,609,410 (GRCm39) |
R713L |
probably benign |
Het |
Slc13a1 |
T |
G |
6: 24,134,371 (GRCm39) |
T171P |
probably damaging |
Het |
Slc18b1 |
G |
T |
10: 23,701,899 (GRCm39) |
E407D |
probably damaging |
Het |
Slc2a6 |
G |
A |
2: 26,914,227 (GRCm39) |
Q297* |
probably null |
Het |
Vmn1r209 |
T |
C |
13: 22,989,832 (GRCm39) |
H286R |
probably damaging |
Het |
Vmn1r28 |
C |
A |
6: 58,242,522 (GRCm39) |
H122N |
probably benign |
Het |
Wfs1 |
A |
G |
5: 37,125,980 (GRCm39) |
Y304H |
probably benign |
Het |
Zfp512b |
A |
G |
2: 181,230,556 (GRCm39) |
S445P |
possibly 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 |
IGL01989:N4bp1
|
APN |
8 |
87,575,115 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-02-04 |