Incidental Mutation 'IGL01869:Sema3g'
ID |
178641 |
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 # |
IGL01869
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
30939830-30952309 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30945624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 478
(E478G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087643
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090180]
|
AlphaFold |
Q4LFA9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090180
AA Change: E478G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087643 Gene: ENSMUSG00000021904 AA Change: E478G
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700026F02Rik |
A |
G |
8: 71,495,689 (GRCm39) |
|
noncoding transcript |
Het |
Adam29 |
T |
C |
8: 56,324,732 (GRCm39) |
H574R |
probably damaging |
Het |
Arap1 |
C |
A |
7: 101,049,490 (GRCm39) |
T984K |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,521,837 (GRCm39) |
S396T |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,700,770 (GRCm39) |
K2587E |
unknown |
Het |
Cyp3a44 |
A |
G |
5: 145,727,496 (GRCm39) |
S278P |
probably damaging |
Het |
Daw1 |
T |
G |
1: 83,159,965 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,943,502 (GRCm39) |
K3200R |
probably benign |
Het |
Efhd2 |
A |
G |
4: 141,601,913 (GRCm39) |
F89S |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,856,642 (GRCm39) |
|
probably benign |
Het |
Ggps1 |
T |
C |
13: 14,228,979 (GRCm39) |
D68G |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,517,954 (GRCm39) |
C134S |
probably damaging |
Het |
Gpaa1 |
A |
G |
15: 76,217,198 (GRCm39) |
T178A |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,657,820 (GRCm39) |
N312S |
possibly damaging |
Het |
Npepps |
T |
C |
11: 97,126,948 (GRCm39) |
I437M |
probably damaging |
Het |
Or10q12 |
A |
G |
19: 13,746,534 (GRCm39) |
D276G |
probably benign |
Het |
Or11i1 |
C |
T |
3: 106,729,342 (GRCm39) |
D178N |
probably benign |
Het |
Rcor1 |
C |
A |
12: 111,070,193 (GRCm39) |
T330K |
possibly damaging |
Het |
Sbno2 |
A |
G |
10: 79,896,226 (GRCm39) |
|
probably null |
Het |
Smg9 |
A |
G |
7: 24,115,949 (GRCm39) |
D280G |
probably damaging |
Het |
Smtnl1 |
A |
T |
2: 84,641,741 (GRCm39) |
*460R |
probably null |
Het |
Syde1 |
A |
G |
10: 78,424,753 (GRCm39) |
C360R |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,256,268 (GRCm39) |
V197A |
possibly damaging |
Het |
Tnrc6c |
T |
C |
11: 117,646,274 (GRCm39) |
V1405A |
possibly damaging |
Het |
Ttbk1 |
A |
G |
17: 46,757,989 (GRCm39) |
S882P |
probably damaging |
Het |
Tubgcp4 |
T |
A |
2: 121,006,269 (GRCm39) |
H116Q |
possibly damaging |
Het |
Vmn1r192 |
T |
A |
13: 22,371,750 (GRCm39) |
N157Y |
probably damaging |
Het |
Vmn1r60 |
C |
T |
7: 5,547,228 (GRCm39) |
V291M |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Xpo5 |
C |
T |
17: 46,553,133 (GRCm39) |
P1184L |
possibly damaging |
Het |
Zfp946 |
T |
G |
17: 22,673,684 (GRCm39) |
I146S |
probably benign |
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 |
IGL01784:Sema3g
|
APN |
14 |
30,944,924 (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 |
2014-05-07 |