Incidental Mutation 'R7957:Ntn4'
| ID |
649901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntn4
|
| Ensembl Gene |
ENSMUSG00000020019 |
| Gene Name |
netrin 4 |
| Synonyms |
beta-netrin |
| MMRRC Submission |
046001-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
93476911-93581834 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 93480335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020204]
[ENSMUST00000147080]
|
| AlphaFold |
Q9JI33 |
| Predicted Effect |
silent
Transcript: ENSMUST00000020204
|
| SMART Domains |
Protein: ENSMUSP00000020204
Gene: ENSMUSG00000020019
| 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
|
| SMART Domains |
Protein: ENSMUSP00000123306
Gene: ENSMUSG00000020019
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
1 |
143 |
4.24e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (46/47) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,982,439 (GRCm39) |
M1T |
probably null |
Het |
| Abhd2 |
T |
A |
7: 78,975,194 (GRCm39) |
M128K |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,317,298 (GRCm39) |
T1333A |
possibly damaging |
Het |
| Alg8 |
A |
G |
7: 97,040,131 (GRCm39) |
T438A |
probably benign |
Het |
| Ccn3 |
G |
T |
15: 54,609,734 (GRCm39) |
S78I |
possibly damaging |
Het |
| Cebpa |
A |
G |
7: 34,819,867 (GRCm39) |
I342V |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,778,326 (GRCm39) |
M2779T |
probably damaging |
Het |
| Cnot3 |
C |
A |
7: 3,661,221 (GRCm39) |
P577T |
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,649,556 (GRCm39) |
D755G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,685,347 (GRCm39) |
V1443A |
unknown |
Het |
| Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,619,430 (GRCm39) |
D1031G |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,399,267 (GRCm39) |
H612L |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,081,410 (GRCm39) |
T149A |
probably damaging |
Het |
| Gm3667 |
T |
C |
14: 18,269,663 (GRCm39) |
N156D |
probably benign |
Het |
| Hpcal1 |
T |
A |
12: 17,841,171 (GRCm39) |
L183Q |
probably damaging |
Het |
| Ilf2 |
G |
T |
3: 90,394,777 (GRCm39) |
E342* |
probably null |
Het |
| Ints13 |
A |
G |
6: 146,452,264 (GRCm39) |
S652P |
probably damaging |
Het |
| Kansl2 |
C |
A |
15: 98,422,499 (GRCm39) |
E356D |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,768,201 (GRCm39) |
E448G |
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,673,707 (GRCm39) |
I124V |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,354,747 (GRCm39) |
D1008E |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,554,767 (GRCm39) |
V3842G |
unknown |
Het |
| Myo9b |
A |
T |
8: 71,807,405 (GRCm39) |
I1614F |
probably benign |
Het |
| Nipa1 |
A |
T |
7: 55,629,547 (GRCm39) |
C189S |
probably damaging |
Het |
| Or12k5 |
A |
G |
2: 36,894,972 (GRCm39) |
I218T |
probably benign |
Het |
| Or2t29 |
A |
G |
11: 58,433,624 (GRCm39) |
L239P |
probably damaging |
Het |
| Or3a4 |
A |
C |
11: 73,944,982 (GRCm39) |
L201R |
probably damaging |
Het |
| Or4x13 |
A |
T |
2: 90,231,395 (GRCm39) |
Y130F |
probably damaging |
Het |
| Or8g17 |
T |
G |
9: 38,930,349 (GRCm39) |
I163L |
probably benign |
Het |
| Pank1 |
T |
A |
19: 34,791,096 (GRCm39) |
H528L |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,589,131 (GRCm39) |
L1698* |
probably null |
Het |
| Park7 |
A |
G |
4: 150,988,341 (GRCm39) |
S85P |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,564,408 (GRCm39) |
D1334G |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,122,276 (GRCm39) |
E30G |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,160,523 (GRCm39) |
F676L |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCCACGGCAGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scd4 |
G |
T |
19: 44,329,687 (GRCm39) |
M219I |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,847,613 (GRCm39) |
I166N |
probably benign |
Het |
| Smim22 |
A |
T |
16: 4,826,089 (GRCm39) |
D85V |
probably damaging |
Het |
| Socs2 |
T |
C |
10: 95,250,812 (GRCm39) |
E7G |
probably benign |
Het |
| Thumpd2 |
T |
C |
17: 81,334,157 (GRCm39) |
E477G |
probably benign |
Het |
| Tlr12 |
C |
T |
4: 128,510,483 (GRCm39) |
G589D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,595,199 (GRCm39) |
I20317K |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,599,690 (GRCm39) |
|
probably null |
Het |
| Ugt2a3 |
T |
A |
5: 87,475,050 (GRCm39) |
D398V |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,589 (GRCm39) |
M101L |
|
Het |
| Vmn2r93 |
A |
T |
17: 18,545,954 (GRCm39) |
R609* |
probably null |
Het |
| Zfp473 |
C |
T |
7: 44,381,916 (GRCm39) |
E806K |
probably damaging |
Het |
| Zfp93 |
T |
C |
7: 23,974,999 (GRCm39) |
L328P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTCGTGAACACATTATCATC -3'
(R):5'- CATTTATCACACTTGGGCTGCC -3'
Sequencing Primer
(F):5'- CGTGAACACATTATCATCTATCGAGC -3'
(R):5'- CGGCAAGTGAGGTCAGCATTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation