Incidental Mutation 'IGL02752:Ntn4'
ID |
304243 |
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 # |
IGL02752
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
93476911-93581834 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93546421 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 358
(V358A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020204]
|
AlphaFold |
Q9JI33 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020204
AA Change: V358A
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000020204 Gene: ENSMUSG00000020019 AA Change: V358A
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
C |
A |
15: 84,840,042 (GRCm39) |
E145* |
probably null |
Het |
Abca9 |
A |
G |
11: 110,018,194 (GRCm39) |
F1142S |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,973,806 (GRCm39) |
T2503A |
possibly damaging |
Het |
Bpi |
A |
G |
2: 158,104,344 (GRCm39) |
D149G |
probably damaging |
Het |
Cntnap5a |
A |
G |
1: 116,508,261 (GRCm39) |
T1258A |
probably benign |
Het |
Col4a3 |
A |
G |
1: 82,637,946 (GRCm39) |
D256G |
unknown |
Het |
Cul5 |
T |
C |
9: 53,546,278 (GRCm39) |
T338A |
probably damaging |
Het |
Efs |
A |
G |
14: 55,154,880 (GRCm39) |
V453A |
probably damaging |
Het |
Fbxw19 |
T |
A |
9: 109,323,709 (GRCm39) |
N89Y |
probably benign |
Het |
Fbxw8 |
A |
G |
5: 118,280,815 (GRCm39) |
F114S |
probably damaging |
Het |
Flnb |
A |
G |
14: 7,917,338 (GRCm38) |
I1606V |
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,831,638 (GRCm39) |
T913A |
possibly damaging |
Het |
Gtf2f1 |
A |
T |
17: 57,316,682 (GRCm39) |
|
probably benign |
Het |
Gtf2ird1 |
T |
A |
5: 134,387,678 (GRCm39) |
*1059L |
probably null |
Het |
Hmgb4 |
T |
C |
4: 128,154,134 (GRCm39) |
K145E |
probably damaging |
Het |
Igf2bp2 |
T |
A |
16: 21,898,860 (GRCm39) |
M250L |
probably benign |
Het |
Igkv14-111 |
A |
G |
6: 68,233,561 (GRCm39) |
K21E |
probably benign |
Het |
Il6st |
C |
T |
13: 112,616,729 (GRCm39) |
T92I |
probably damaging |
Het |
Jak3 |
G |
T |
8: 72,135,595 (GRCm39) |
V581L |
possibly damaging |
Het |
Kank2 |
C |
T |
9: 21,706,329 (GRCm39) |
V230M |
probably damaging |
Het |
Kif1a |
G |
A |
1: 92,967,569 (GRCm39) |
A1123V |
possibly damaging |
Het |
Kpna4 |
T |
A |
3: 69,002,863 (GRCm39) |
R125* |
probably null |
Het |
Mybpc3 |
A |
T |
2: 90,962,982 (GRCm39) |
|
probably null |
Het |
Pacsin1 |
A |
T |
17: 27,921,672 (GRCm39) |
|
probably null |
Het |
Pcsk2 |
A |
G |
2: 143,615,865 (GRCm39) |
N221S |
probably benign |
Het |
Pik3cg |
A |
G |
12: 32,254,262 (GRCm39) |
L575P |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,623,815 (GRCm39) |
V760E |
possibly damaging |
Het |
Plxnc1 |
T |
C |
10: 94,630,542 (GRCm39) |
|
probably null |
Het |
Ppfia1 |
T |
C |
7: 144,073,341 (GRCm39) |
T217A |
probably benign |
Het |
Rictor |
A |
G |
15: 6,816,852 (GRCm39) |
T1375A |
probably benign |
Het |
Scn1a |
A |
G |
2: 66,161,756 (GRCm39) |
I264T |
probably damaging |
Het |
Sez6l2 |
T |
C |
7: 126,552,905 (GRCm39) |
S164P |
probably damaging |
Het |
Slc31a1 |
C |
T |
4: 62,303,869 (GRCm39) |
|
probably benign |
Het |
Slc45a1 |
T |
C |
4: 150,722,478 (GRCm39) |
N469D |
probably benign |
Het |
Slco1a5 |
T |
C |
6: 142,208,438 (GRCm39) |
T76A |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stfa3 |
G |
A |
16: 36,270,999 (GRCm39) |
T95I |
probably damaging |
Het |
Stk11ip |
A |
C |
1: 75,501,325 (GRCm39) |
|
probably null |
Het |
Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
Traf1 |
A |
G |
2: 34,848,020 (GRCm39) |
S25P |
probably benign |
Het |
Ttn |
G |
T |
2: 76,622,125 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,798,283 (GRCm39) |
I2041N |
probably damaging |
Het |
Zfp512b |
A |
T |
2: 181,229,864 (GRCm39) |
D556E |
possibly damaging |
Het |
Zfpm2 |
T |
A |
15: 40,965,415 (GRCm39) |
D633E |
probably benign |
Het |
|
Other mutations in Ntn4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02052:Ntn4
|
APN |
10 |
93,543,211 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-04-16 |