Incidental Mutation 'IGL01784:Sema3g'
| ID |
154238 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sema3g
|
| Ensembl Gene |
ENSMUSG00000021904 |
| Gene Name |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01784
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
30939830-30952309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30944924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 349
(I349T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090180]
|
| AlphaFold |
Q4LFA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090180
AA Change: I349T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087643
Gene: ENSMUSG00000021904
AA Change: I349T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Sema
|
58 |
503 |
2.96e-184 |
SMART |
|
PSI
|
521 |
574 |
3.2e-11 |
SMART |
|
IG
|
588 |
674 |
6.41e-2 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased lymphatic branching complexity with decreased lymphatic width. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,445 (GRCm39) |
P309L |
possibly damaging |
Het |
| Abca4 |
A |
T |
3: 121,932,154 (GRCm39) |
K269N |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,854,399 (GRCm39) |
T839A |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,040,751 (GRCm39) |
D30G |
probably damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,971,217 (GRCm39) |
I149T |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,630,247 (GRCm39) |
D199G |
probably damaging |
Het |
| Cplx3 |
T |
C |
9: 57,527,847 (GRCm39) |
Y36C |
probably damaging |
Het |
| Ddo |
A |
G |
10: 40,507,784 (GRCm39) |
|
probably benign |
Het |
| Ensa |
T |
A |
3: 95,535,844 (GRCm39) |
|
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,425,427 (GRCm39) |
I405V |
possibly damaging |
Het |
| Fam171b |
T |
A |
2: 83,710,031 (GRCm39) |
L568M |
possibly damaging |
Het |
| Fmn2 |
A |
G |
1: 174,329,994 (GRCm39) |
D128G |
unknown |
Het |
| Fra10ac1 |
T |
A |
19: 38,208,125 (GRCm39) |
H43L |
probably benign |
Het |
| Gm7589 |
T |
C |
9: 59,053,310 (GRCm39) |
|
noncoding transcript |
Het |
| Gsx1 |
A |
G |
5: 147,126,939 (GRCm39) |
D254G |
probably benign |
Het |
| Hoxb6 |
A |
G |
11: 96,191,639 (GRCm39) |
E187G |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,518,524 (GRCm39) |
I2385N |
probably damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,290 (GRCm39) |
C171S |
probably benign |
Het |
| Mccc1 |
T |
G |
3: 36,030,897 (GRCm39) |
N390H |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,403,373 (GRCm39) |
|
probably benign |
Het |
| Nfic |
T |
C |
10: 81,241,982 (GRCm39) |
D364G |
possibly damaging |
Het |
| Niban1 |
T |
A |
1: 151,525,116 (GRCm39) |
Y174N |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,806,314 (GRCm39) |
|
probably benign |
Het |
| Or6c8 |
C |
T |
10: 128,915,224 (GRCm39) |
V203M |
probably benign |
Het |
| Osbpl3 |
A |
G |
6: 50,321,902 (GRCm39) |
S75P |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,105,589 (GRCm39) |
A685S |
probably damaging |
Het |
| Pramel51 |
A |
G |
12: 88,143,085 (GRCm39) |
Y178H |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,485,724 (GRCm39) |
T539A |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,622,632 (GRCm39) |
S537T |
possibly damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,997,089 (GRCm39) |
T597I |
possibly damaging |
Het |
| Rtn4 |
C |
A |
11: 29,657,291 (GRCm39) |
Q482K |
probably damaging |
Het |
| Sh3gl1 |
A |
C |
17: 56,326,325 (GRCm39) |
S108A |
possibly damaging |
Het |
| Tmc7 |
A |
T |
7: 118,146,538 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
G |
A |
1: 36,854,564 (GRCm39) |
T131I |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,397,800 (GRCm39) |
L505P |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,919,439 (GRCm39) |
Q231R |
unknown |
Het |
| Wnt7a |
A |
G |
6: 91,342,839 (GRCm39) |
C348R |
probably damaging |
Het |
| Zkscan6 |
T |
A |
11: 65,705,547 (GRCm39) |
L86Q |
probably damaging |
Het |
|
| Other mutations in Sema3g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01626:Sema3g
|
APN |
14 |
30,943,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01650:Sema3g
|
APN |
14 |
30,943,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01782:Sema3g
|
APN |
14 |
30,949,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01869:Sema3g
|
APN |
14 |
30,945,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01999:Sema3g
|
APN |
14 |
30,939,922 (GRCm39) |
missense |
probably benign |
|
|
IGL02095:Sema3g
|
APN |
14 |
30,949,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02232:Sema3g
|
APN |
14 |
30,943,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Sema3g
|
APN |
14 |
30,949,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02583:Sema3g
|
APN |
14 |
30,943,476 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0791:Sema3g
|
UTSW |
14 |
30,942,861 (GRCm39) |
splice site |
probably benign |
|
|
R1225:Sema3g
|
UTSW |
14 |
30,942,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Sema3g
|
UTSW |
14 |
30,950,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2303:Sema3g
|
UTSW |
14 |
30,944,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3968:Sema3g
|
UTSW |
14 |
30,948,478 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3970:Sema3g
|
UTSW |
14 |
30,948,478 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4406:Sema3g
|
UTSW |
14 |
30,950,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4773:Sema3g
|
UTSW |
14 |
30,942,666 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7968:Sema3g
|
UTSW |
14 |
30,942,605 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8179:Sema3g
|
UTSW |
14 |
30,942,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9606:Sema3g
|
UTSW |
14 |
30,943,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF021:Sema3g
|
UTSW |
14 |
30,949,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Sema3g
|
UTSW |
14 |
30,944,068 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Sema3g
|
UTSW |
14 |
30,948,354 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Posted On |
2014-02-04 |
Incidental Mutation