Incidental Mutation 'R2975:Ntn4'
| ID |
255350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntn4
|
| Ensembl Gene |
ENSMUSG00000020019 |
| Gene Name |
netrin 4 |
| Synonyms |
beta-netrin |
| Accession Numbers |
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2975 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
93640681-93747207 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93644891 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 122
(Y122C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020204]
[ENSMUST00000147080]
|
| AlphaFold |
Q9JI33 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020204
AA Change: Y159C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020204
Gene: ENSMUSG00000020019
AA Change: Y159C
| 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 damaging
Transcript: ENSMUST00000147080
AA Change: Y122C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123306
Gene: ENSMUSG00000020019
AA Change: Y122C
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
1 |
143 |
4.24e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,957,087 |
N251D |
probably damaging |
Het |
| Cdca3 |
A |
T |
6: 124,830,653 |
|
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,312,387 |
T57I |
probably benign |
Het |
| Fut8 |
T |
C |
12: 77,365,013 |
V83A |
probably benign |
Het |
| Gm38394 |
T |
C |
1: 133,658,237 |
Y454C |
probably damaging |
Het |
| Gnb1l |
T |
C |
16: 18,564,266 |
S352P |
probably damaging |
Het |
| Hmgxb3 |
A |
T |
18: 61,162,966 |
Y323* |
probably null |
Het |
| Katna1 |
A |
T |
10: 7,743,709 |
K160N |
probably benign |
Het |
| Kif7 |
C |
A |
7: 79,710,260 |
A410S |
probably damaging |
Het |
| Mrpl43 |
T |
C |
19: 45,006,059 |
|
probably null |
Het |
| Muc6 |
T |
A |
7: 141,637,038 |
E2574V |
possibly damaging |
Het |
| Naip6 |
A |
G |
13: 100,288,187 |
V1199A |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,345 |
I225T |
probably damaging |
Het |
| Rrp1b |
T |
A |
17: 32,058,573 |
V609E |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,659,098 |
T180A |
probably damaging |
Het |
| Tas2r136 |
C |
A |
6: 132,778,009 |
V52L |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,613,264 |
I16T |
probably benign |
Het |
| Traf3ip2 |
A |
C |
10: 39,626,540 |
Q228P |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,635,992 |
M48T |
possibly damaging |
Het |
| Washc5 |
T |
C |
15: 59,345,358 |
N787D |
probably damaging |
Het |
|
| Other mutations in Ntn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02052:Ntn4
|
APN |
10 |
93707349 |
missense |
probably damaging |
1.00 |
|
IGL02212:Ntn4
|
APN |
10 |
93644849 |
missense |
possibly damaging |
0.50 |
|
IGL02698:Ntn4
|
APN |
10 |
93644659 |
missense |
probably benign |
0.19 |
|
IGL02752:Ntn4
|
APN |
10 |
93710559 |
missense |
possibly damaging |
0.84 |
|
PIT4468001:Ntn4
|
UTSW |
10 |
93644725 |
missense |
probably damaging |
0.99 |
|
R0131:Ntn4
|
UTSW |
10 |
93644707 |
missense |
possibly damaging |
0.89 |
|
R0131:Ntn4
|
UTSW |
10 |
93644707 |
missense |
possibly damaging |
0.89 |
|
R0132:Ntn4
|
UTSW |
10 |
93644707 |
missense |
possibly damaging |
0.89 |
|
R0419:Ntn4
|
UTSW |
10 |
93682429 |
missense |
probably benign |
0.04 |
|
R1304:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1306:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1307:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1308:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1619:Ntn4
|
UTSW |
10 |
93644734 |
missense |
probably damaging |
1.00 |
|
R1645:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1664:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1695:Ntn4
|
UTSW |
10 |
93733602 |
splice site |
probably null |
|
|
R1796:Ntn4
|
UTSW |
10 |
93745771 |
missense |
probably damaging |
1.00 |
|
R1806:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1845:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1856:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1872:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1879:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1901:Ntn4
|
UTSW |
10 |
93707372 |
missense |
possibly damaging |
0.93 |
|
R1902:Ntn4
|
UTSW |
10 |
93707372 |
missense |
possibly damaging |
0.93 |
|
R1925:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1926:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R1927:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R2060:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R2113:Ntn4
|
UTSW |
10 |
93644839 |
missense |
probably damaging |
1.00 |
|
R2202:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R2203:Ntn4
|
UTSW |
10 |
93707353 |
missense |
probably damaging |
0.99 |
|
R4277:Ntn4
|
UTSW |
10 |
93741210 |
missense |
possibly damaging |
0.95 |
|
R4805:Ntn4
|
UTSW |
10 |
93644500 |
missense |
probably damaging |
0.99 |
|
R4806:Ntn4
|
UTSW |
10 |
93644500 |
missense |
probably damaging |
0.99 |
|
R4807:Ntn4
|
UTSW |
10 |
93644500 |
missense |
probably damaging |
0.99 |
|
R5818:Ntn4
|
UTSW |
10 |
93644764 |
missense |
probably benign |
0.40 |
|
R6048:Ntn4
|
UTSW |
10 |
93707266 |
splice site |
probably null |
|
|
R6051:Ntn4
|
UTSW |
10 |
93745795 |
missense |
probably benign |
|
|
R6346:Ntn4
|
UTSW |
10 |
93644861 |
missense |
probably damaging |
1.00 |
|
R6752:Ntn4
|
UTSW |
10 |
93734175 |
missense |
probably benign |
|
|
R7196:Ntn4
|
UTSW |
10 |
93733714 |
missense |
probably benign |
0.01 |
|
R7240:Ntn4
|
UTSW |
10 |
93745741 |
missense |
probably damaging |
0.99 |
|
R7365:Ntn4
|
UTSW |
10 |
93644804 |
missense |
probably damaging |
1.00 |
|
R7374:Ntn4
|
UTSW |
10 |
93682572 |
missense |
probably benign |
|
|
R7505:Ntn4
|
UTSW |
10 |
93707284 |
missense |
probably damaging |
1.00 |
|
R7509:Ntn4
|
UTSW |
10 |
93710568 |
missense |
probably benign |
0.01 |
|
R7726:Ntn4
|
UTSW |
10 |
93733682 |
missense |
possibly damaging |
0.82 |
|
R7957:Ntn4
|
UTSW |
10 |
93644473 |
splice site |
probably benign |
|
|
R8092:Ntn4
|
UTSW |
10 |
93741056 |
missense |
probably damaging |
0.97 |
|
R8202:Ntn4
|
UTSW |
10 |
93644903 |
missense |
possibly damaging |
0.88 |
|
R8508:Ntn4
|
UTSW |
10 |
93741104 |
missense |
possibly damaging |
0.48 |
|
R9010:Ntn4
|
UTSW |
10 |
93644644 |
missense |
|
|
|
R9115:Ntn4
|
UTSW |
10 |
93733813 |
missense |
probably benign |
|
|
R9415:Ntn4
|
UTSW |
10 |
93644626 |
missense |
probably benign |
0.00 |
|
RF045:Ntn4
|
UTSW |
10 |
93710625 |
missense |
possibly damaging |
0.95 |
|
X0024:Ntn4
|
UTSW |
10 |
93644971 |
missense |
probably damaging |
1.00 |
|
Z1176:Ntn4
|
UTSW |
10 |
93741153 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGCAGACTCATCCTTCAG -3'
(R):5'- TGACTGAAATCCAGCCAGTG -3'
Sequencing Primer
(F):5'- TTCAGGTTTCCCCGGACATGG -3'
(R):5'- GTGCAAATAGCTCCCTTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation