Incidental Mutation 'IGL02698:Ntn4'
| ID |
304020 |
| 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 # |
IGL02698
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
93476911-93581834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 93480521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 45
(A45S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020204]
[ENSMUST00000147080]
|
| AlphaFold |
Q9JI33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020204
AA Change: A82S
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000020204
Gene: ENSMUSG00000020019
AA Change: A82S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147080
AA Change: A45S
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000123306
Gene: ENSMUSG00000020019
AA Change: A45S
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
1 |
143 |
4.24e-12 |
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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpp21 |
T |
A |
9: 112,014,812 (GRCm39) |
|
probably benign |
Het |
| Car8 |
A |
T |
4: 8,185,598 (GRCm39) |
I186N |
probably benign |
Het |
| Ccdc174 |
G |
A |
6: 91,867,834 (GRCm39) |
S183N |
probably benign |
Het |
| Ccdc66 |
T |
A |
14: 27,212,749 (GRCm39) |
K525* |
probably null |
Het |
| Cebpz |
A |
G |
17: 79,243,003 (GRCm39) |
V217A |
probably benign |
Het |
| Cfap36 |
C |
A |
11: 29,197,014 (GRCm39) |
|
probably null |
Het |
| Cpne4 |
T |
C |
9: 104,909,984 (GRCm39) |
V527A |
probably damaging |
Het |
| Crh |
T |
G |
3: 19,748,354 (GRCm39) |
D96A |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dcp1a |
A |
T |
14: 30,227,499 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,842,663 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
C |
T |
1: 86,976,551 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,406,412 (GRCm39) |
|
probably benign |
Het |
| Etv3 |
A |
G |
3: 87,443,885 (GRCm39) |
T490A |
possibly damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,787,158 (GRCm39) |
T531A |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,476,201 (GRCm39) |
A1749V |
probably benign |
Het |
| Fgfr1 |
T |
A |
8: 26,063,624 (GRCm39) |
L761* |
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,107,112 (GRCm39) |
K683E |
possibly damaging |
Het |
| Gm5117 |
C |
T |
8: 32,229,767 (GRCm39) |
|
noncoding transcript |
Het |
| Hif1a |
T |
C |
12: 73,977,545 (GRCm39) |
|
probably null |
Het |
| Inha |
A |
G |
1: 75,486,527 (GRCm39) |
E274G |
probably damaging |
Het |
| Itih2 |
G |
T |
2: 10,135,312 (GRCm39) |
P26H |
probably damaging |
Het |
| Kif23 |
G |
A |
9: 61,832,283 (GRCm39) |
T620I |
possibly damaging |
Het |
| Klhl30 |
T |
C |
1: 91,281,429 (GRCm39) |
F10S |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,278,118 (GRCm39) |
|
probably benign |
Het |
| Lmf2 |
A |
C |
15: 89,238,357 (GRCm39) |
L174R |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,900,894 (GRCm39) |
L2216P |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,384,877 (GRCm39) |
L257F |
probably damaging |
Het |
| Net1 |
A |
G |
13: 3,937,569 (GRCm39) |
|
probably null |
Het |
| Nfasc |
A |
G |
1: 132,562,475 (GRCm39) |
V100A |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 56,998,172 (GRCm39) |
F535S |
probably damaging |
Het |
| Or2y1c |
T |
A |
11: 49,361,690 (GRCm39) |
F237L |
probably benign |
Het |
| Or4a27 |
T |
A |
2: 88,559,815 (GRCm39) |
I43F |
probably damaging |
Het |
| Or52a20 |
T |
C |
7: 103,366,485 (GRCm39) |
V228A |
probably damaging |
Het |
| Or5w17 |
T |
A |
2: 87,584,188 (GRCm39) |
K50* |
probably null |
Het |
| Or8c9 |
A |
G |
9: 38,241,506 (GRCm39) |
T208A |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,099,257 (GRCm39) |
E592V |
probably damaging |
Het |
| Pate10 |
T |
C |
9: 35,652,416 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,109,032 (GRCm39) |
I1630N |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,199,185 (GRCm39) |
D1997G |
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,295,312 (GRCm39) |
S235T |
probably damaging |
Het |
| S1pr1 |
T |
A |
3: 115,505,746 (GRCm39) |
K283* |
probably null |
Het |
| Scn5a |
T |
A |
9: 119,350,163 (GRCm39) |
T904S |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,495,643 (GRCm39) |
L30P |
possibly damaging |
Het |
| Slc26a7 |
A |
C |
4: 14,593,867 (GRCm39) |
S83A |
possibly damaging |
Het |
| Slco1a6 |
C |
A |
6: 142,048,737 (GRCm39) |
G348* |
probably null |
Het |
| Srgap3 |
C |
T |
6: 112,723,889 (GRCm39) |
V524I |
probably damaging |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,688 (GRCm39) |
|
noncoding transcript |
Het |
| Sv2b |
C |
T |
7: 74,790,726 (GRCm39) |
|
probably null |
Het |
| Sympk |
T |
C |
7: 18,779,559 (GRCm39) |
I663T |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,775,115 (GRCm39) |
V1976L |
probably damaging |
Het |
| Uqcrc1 |
T |
C |
9: 108,777,011 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,226 (GRCm39) |
Y260C |
probably damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation