Incidental Mutation 'IGL02052:Ntn4'
ID |
185086 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ntn4
|
Ensembl Gene |
ENSMUSG00000020019 |
Gene Name |
netrin 4 |
Synonyms |
beta-netrin |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02052
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
93476911-93581834 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 93543211 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 312
(N312K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020204]
|
AlphaFold |
Q9JI33 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020204
AA Change: N312K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020204 Gene: ENSMUSG00000020019 AA Change: N312K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
LamNT
|
28 |
260 |
6.48e-55 |
SMART |
EGF_Lam
|
262 |
329 |
5.83e-7 |
SMART |
EGF_Lam
|
332 |
392 |
3.32e-11 |
SMART |
EGF_Lam
|
395 |
446 |
3.73e-14 |
SMART |
C345C
|
516 |
625 |
5.58e-25 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the netrin family of proteins, which function in various biological processes including axon guidance, tumorogenesis, and angiogenesis. Netrins are laminin-related proteins that have an N-terminal laminin-type domain, epidermal growth factor-like repeat domain, and a positively charged heparin-binding domain at the C-terminus. The protein encoded by this gene is involved in processes including neurite growth and migration, angiogenesis and mural cell adhesion to endothelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cell proliferation in the cornea without an increase in corneal thickness and increased microvessel branching in the middle levels of the retina. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef37 |
C |
T |
18: 61,632,839 (GRCm39) |
V533M |
probably damaging |
Het |
Bicd2 |
A |
G |
13: 49,532,665 (GRCm39) |
D343G |
possibly damaging |
Het |
Ccl26 |
C |
T |
5: 135,592,193 (GRCm39) |
S48N |
possibly damaging |
Het |
Cdkn1b |
A |
T |
6: 134,897,970 (GRCm39) |
R30* |
probably null |
Het |
Cds1 |
G |
T |
5: 101,962,338 (GRCm39) |
V318L |
probably benign |
Het |
Ceacam11 |
A |
G |
7: 17,707,548 (GRCm39) |
S111G |
probably benign |
Het |
Cntn1 |
A |
C |
15: 92,189,584 (GRCm39) |
I636L |
possibly damaging |
Het |
Cog2 |
G |
A |
8: 125,269,627 (GRCm39) |
|
probably null |
Het |
Cyp2g1 |
G |
A |
7: 26,513,719 (GRCm39) |
|
probably benign |
Het |
Ddx54 |
T |
C |
5: 120,763,783 (GRCm39) |
V644A |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 30,990,743 (GRCm39) |
Q3192R |
probably damaging |
Het |
Dyrk2 |
T |
G |
10: 118,696,448 (GRCm39) |
H270P |
probably damaging |
Het |
Ephb6 |
A |
G |
6: 41,590,256 (GRCm39) |
T3A |
probably benign |
Het |
Fam120a |
G |
A |
13: 49,087,421 (GRCm39) |
|
probably benign |
Het |
Fam184a |
A |
G |
10: 53,573,216 (GRCm39) |
|
probably benign |
Het |
Fmo1 |
A |
G |
1: 162,677,629 (GRCm39) |
|
probably null |
Het |
Gaa |
A |
G |
11: 119,175,021 (GRCm39) |
Y874C |
possibly damaging |
Het |
Gabrr1 |
T |
A |
4: 33,152,567 (GRCm39) |
I169N |
probably damaging |
Het |
Gm13734 |
T |
C |
2: 86,966,665 (GRCm39) |
|
probably null |
Het |
Gnb1 |
T |
C |
4: 155,618,148 (GRCm39) |
|
probably benign |
Het |
Hecw2 |
G |
T |
1: 53,965,670 (GRCm39) |
F385L |
probably benign |
Het |
Kif5a |
C |
T |
10: 127,079,368 (GRCm39) |
V277M |
probably damaging |
Het |
Mogat2 |
A |
T |
7: 98,887,771 (GRCm39) |
M1K |
probably null |
Het |
Mrgprx2 |
A |
T |
7: 48,132,042 (GRCm39) |
W259R |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,303,553 (GRCm39) |
L410S |
probably damaging |
Het |
Papss2 |
T |
C |
19: 32,637,983 (GRCm39) |
V365A |
possibly damaging |
Het |
Pde4c |
A |
G |
8: 71,201,062 (GRCm39) |
N420S |
probably damaging |
Het |
Plec |
C |
T |
15: 76,064,541 (GRCm39) |
R1911H |
probably damaging |
Het |
Pramel21 |
A |
C |
4: 143,341,643 (GRCm39) |
D24A |
probably benign |
Het |
Rnf19b |
A |
G |
4: 128,965,613 (GRCm39) |
H237R |
probably damaging |
Het |
Slfn4 |
T |
C |
11: 83,077,800 (GRCm39) |
L196P |
possibly damaging |
Het |
Steap2 |
G |
T |
5: 5,723,586 (GRCm39) |
F431L |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,072,493 (GRCm39) |
E2680G |
probably benign |
Het |
Tmprss15 |
A |
T |
16: 78,884,394 (GRCm39) |
I96N |
probably damaging |
Het |
Trim34a |
T |
G |
7: 103,897,038 (GRCm39) |
V34G |
probably benign |
Het |
Ttyh1 |
A |
G |
7: 4,133,573 (GRCm39) |
|
probably benign |
Het |
Usp29 |
A |
C |
7: 6,965,525 (GRCm39) |
H456P |
probably benign |
Het |
Wdfy1 |
A |
G |
1: 79,692,661 (GRCm39) |
S219P |
probably damaging |
Het |
Zfp738 |
A |
T |
13: 67,819,600 (GRCm39) |
S117R |
possibly damaging |
Het |
|
Other mutations in Ntn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02212:Ntn4
|
APN |
10 |
93,480,711 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02698:Ntn4
|
APN |
10 |
93,480,521 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02752:Ntn4
|
APN |
10 |
93,546,421 (GRCm39) |
missense |
possibly damaging |
0.84 |
PIT4468001:Ntn4
|
UTSW |
10 |
93,480,587 (GRCm39) |
missense |
probably damaging |
0.99 |
R0131:Ntn4
|
UTSW |
10 |
93,480,569 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0131:Ntn4
|
UTSW |
10 |
93,480,569 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0132:Ntn4
|
UTSW |
10 |
93,480,569 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0419:Ntn4
|
UTSW |
10 |
93,518,291 (GRCm39) |
missense |
probably benign |
0.04 |
R1304:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1306:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1307:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1308:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1619:Ntn4
|
UTSW |
10 |
93,480,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R1645:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1664:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1695:Ntn4
|
UTSW |
10 |
93,569,464 (GRCm39) |
splice site |
probably null |
|
R1796:Ntn4
|
UTSW |
10 |
93,581,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R1806:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1845:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1856:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1872:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1879:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1901:Ntn4
|
UTSW |
10 |
93,543,234 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1902:Ntn4
|
UTSW |
10 |
93,543,234 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1925:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1926:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R1927:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R2060:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R2113:Ntn4
|
UTSW |
10 |
93,480,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R2202:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R2203:Ntn4
|
UTSW |
10 |
93,543,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R2975:Ntn4
|
UTSW |
10 |
93,480,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R4277:Ntn4
|
UTSW |
10 |
93,577,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4805:Ntn4
|
UTSW |
10 |
93,480,362 (GRCm39) |
missense |
probably damaging |
0.99 |
R4806:Ntn4
|
UTSW |
10 |
93,480,362 (GRCm39) |
missense |
probably damaging |
0.99 |
R4807:Ntn4
|
UTSW |
10 |
93,480,362 (GRCm39) |
missense |
probably damaging |
0.99 |
R5818:Ntn4
|
UTSW |
10 |
93,480,626 (GRCm39) |
missense |
probably benign |
0.40 |
R6048:Ntn4
|
UTSW |
10 |
93,543,128 (GRCm39) |
splice site |
probably null |
|
R6051:Ntn4
|
UTSW |
10 |
93,581,657 (GRCm39) |
missense |
probably benign |
|
R6346:Ntn4
|
UTSW |
10 |
93,480,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R6752:Ntn4
|
UTSW |
10 |
93,570,037 (GRCm39) |
missense |
probably benign |
|
R7196:Ntn4
|
UTSW |
10 |
93,569,576 (GRCm39) |
missense |
probably benign |
0.01 |
R7240:Ntn4
|
UTSW |
10 |
93,581,603 (GRCm39) |
missense |
probably damaging |
0.99 |
R7365:Ntn4
|
UTSW |
10 |
93,480,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R7374:Ntn4
|
UTSW |
10 |
93,518,434 (GRCm39) |
missense |
probably benign |
|
R7505:Ntn4
|
UTSW |
10 |
93,543,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7509:Ntn4
|
UTSW |
10 |
93,546,430 (GRCm39) |
missense |
probably benign |
0.01 |
R7726:Ntn4
|
UTSW |
10 |
93,569,544 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7957:Ntn4
|
UTSW |
10 |
93,480,335 (GRCm39) |
splice site |
probably benign |
|
R8092:Ntn4
|
UTSW |
10 |
93,576,918 (GRCm39) |
missense |
probably damaging |
0.97 |
R8202:Ntn4
|
UTSW |
10 |
93,480,765 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8508:Ntn4
|
UTSW |
10 |
93,576,966 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9008:Ntn4
|
UTSW |
10 |
93,569,466 (GRCm39) |
splice site |
probably benign |
|
R9010:Ntn4
|
UTSW |
10 |
93,480,506 (GRCm39) |
missense |
|
|
R9115:Ntn4
|
UTSW |
10 |
93,569,675 (GRCm39) |
missense |
probably benign |
|
R9415:Ntn4
|
UTSW |
10 |
93,480,488 (GRCm39) |
missense |
probably benign |
0.00 |
RF045:Ntn4
|
UTSW |
10 |
93,546,487 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0024:Ntn4
|
UTSW |
10 |
93,480,833 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ntn4
|
UTSW |
10 |
93,577,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |