Incidental Mutation 'R5818:Ntn4'
ID |
449172 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ntn4
|
Ensembl Gene |
ENSMUSG00000020019 |
Gene Name |
netrin 4 |
Synonyms |
beta-netrin |
MMRRC Submission |
043398-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5818 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
93476911-93581834 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93480626 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 80
(I80V)
|
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: I117V
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000020204 Gene: ENSMUSG00000020019 AA Change: I117V
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: I80V
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000123306 Gene: ENSMUSG00000020019 AA Change: I80V
Domain | Start | End | E-Value | Type |
LamNT
|
1 |
143 |
4.24e-12 |
SMART |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (64/64) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,110,469 (GRCm39) |
V560D |
probably damaging |
Het |
Actn4 |
A |
G |
7: 28,618,444 (GRCm39) |
I72T |
probably damaging |
Het |
Adam33 |
A |
T |
2: 130,896,278 (GRCm39) |
C440S |
possibly damaging |
Het |
Bace1 |
T |
C |
9: 45,770,347 (GRCm39) |
I361T |
possibly damaging |
Het |
Bend6 |
T |
C |
1: 33,922,654 (GRCm39) |
|
probably benign |
Het |
Bpifb9a |
T |
G |
2: 154,104,215 (GRCm39) |
N219K |
probably damaging |
Het |
Cacna1g |
C |
A |
11: 94,308,946 (GRCm39) |
K1634N |
probably damaging |
Het |
Cdk18 |
A |
G |
1: 132,046,836 (GRCm39) |
|
probably null |
Het |
Chrng |
G |
A |
1: 87,137,523 (GRCm39) |
V320I |
probably benign |
Het |
Corin |
G |
T |
5: 72,592,738 (GRCm39) |
H87N |
probably benign |
Het |
Cps1 |
A |
T |
1: 67,205,647 (GRCm39) |
I557F |
possibly damaging |
Het |
Cyp4a29 |
T |
C |
4: 115,104,229 (GRCm39) |
V99A |
possibly damaging |
Het |
Dach1 |
T |
C |
14: 98,406,120 (GRCm39) |
D209G |
probably damaging |
Het |
Dgat1 |
G |
A |
15: 76,386,407 (GRCm39) |
|
probably benign |
Het |
Eif1ad8 |
T |
G |
12: 87,563,830 (GRCm39) |
V55G |
possibly damaging |
Het |
Fbxw26 |
G |
T |
9: 109,561,634 (GRCm39) |
R187S |
probably benign |
Het |
Gabrd |
G |
A |
4: 155,472,818 (GRCm39) |
P122S |
probably damaging |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Hif1a |
A |
G |
12: 73,986,338 (GRCm39) |
Q343R |
possibly damaging |
Het |
Hyou1 |
G |
A |
9: 44,300,223 (GRCm39) |
|
probably null |
Het |
Igfn1 |
A |
T |
1: 135,893,864 (GRCm39) |
I2072K |
possibly damaging |
Het |
Itprid2 |
T |
A |
2: 79,474,937 (GRCm39) |
S299T |
probably damaging |
Het |
Kash5 |
C |
T |
7: 44,843,383 (GRCm39) |
|
probably null |
Het |
Kctd8 |
C |
T |
5: 69,454,054 (GRCm39) |
A328T |
probably benign |
Het |
Krt10 |
A |
G |
11: 99,279,597 (GRCm39) |
Y188H |
probably damaging |
Het |
Krtap4-16 |
T |
A |
11: 99,742,349 (GRCm39) |
Q17L |
unknown |
Het |
Larp4b |
T |
A |
13: 9,208,596 (GRCm39) |
S416R |
probably benign |
Het |
Lmtk2 |
G |
A |
5: 144,093,718 (GRCm39) |
V232M |
probably benign |
Het |
Mroh4 |
A |
G |
15: 74,483,831 (GRCm39) |
I571T |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,388,777 (GRCm39) |
R2021Q |
probably benign |
Het |
Npl |
G |
A |
1: 153,411,661 (GRCm39) |
R63C |
probably damaging |
Het |
Numb |
C |
T |
12: 83,872,028 (GRCm39) |
|
probably null |
Het |
Nusap1 |
A |
C |
2: 119,465,994 (GRCm39) |
M205L |
possibly damaging |
Het |
Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
Or10d1b |
T |
C |
9: 39,613,661 (GRCm39) |
S135G |
probably benign |
Het |
Pmfbp1 |
T |
C |
8: 110,265,311 (GRCm39) |
|
probably null |
Het |
Ppfia1 |
T |
C |
7: 144,074,305 (GRCm39) |
|
probably benign |
Het |
Ppm1b |
A |
G |
17: 85,301,147 (GRCm39) |
K9R |
probably benign |
Het |
Rab11fip3 |
T |
C |
17: 26,235,090 (GRCm39) |
S608G |
probably damaging |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Sohlh2 |
A |
G |
3: 55,097,922 (GRCm39) |
T125A |
probably damaging |
Het |
Tet1 |
C |
A |
10: 62,652,187 (GRCm39) |
M1610I |
possibly damaging |
Het |
Tgfbr3 |
A |
T |
5: 107,280,869 (GRCm39) |
D630E |
probably benign |
Het |
Thnsl2 |
T |
C |
6: 71,111,127 (GRCm39) |
D247G |
probably benign |
Het |
Tmem198b |
G |
A |
10: 128,638,057 (GRCm39) |
R169W |
probably benign |
Het |
Tmem201 |
G |
A |
4: 149,811,849 (GRCm39) |
A332V |
probably benign |
Het |
Tsku |
T |
C |
7: 98,001,305 (GRCm39) |
D342G |
possibly damaging |
Het |
Ucn2 |
A |
T |
9: 108,815,565 (GRCm39) |
H109L |
probably benign |
Het |
Virma |
T |
G |
4: 11,513,319 (GRCm39) |
L391R |
possibly damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,548,098 (GRCm39) |
M1L |
probably benign |
Het |
Vmn2r76 |
T |
C |
7: 85,879,142 (GRCm39) |
H386R |
probably benign |
Het |
Zfp608 |
C |
T |
18: 55,028,468 (GRCm39) |
R1315Q |
probably benign |
Het |
Zmym2 |
A |
G |
14: 57,183,986 (GRCm39) |
T983A |
probably benign |
Het |
Zscan26 |
A |
G |
13: 21,629,931 (GRCm39) |
S65P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGGGAAGAAAGCTCCGGG -3'
(R):5'- TTGACAACATCATCTTCCAGGC -3'
Sequencing Primer
(F):5'- CACAATGTGTGGCCAGAACGC -3'
(R):5'- CCAAAAGTAGCCGAGCAGTTTG -3'
|
Posted On |
2016-12-20 |