Incidental Mutation 'R2303:Sema3g'
| ID |
244506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sema3g
|
| Ensembl Gene |
ENSMUSG00000021904 |
| Gene Name |
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G |
| Synonyms |
|
| MMRRC Submission |
040302-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2303 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30939830-30952309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30944572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 329
(F329L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090180]
|
| AlphaFold |
Q4LFA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090180
AA Change: F329L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087643
Gene: ENSMUSG00000021904
AA Change: F329L
| 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 |
|
| Meta Mutation Damage Score |
0.9059 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930583I09Rik |
T |
G |
17: 65,141,561 (GRCm39) |
D14A |
unknown |
Het |
| Aars1 |
C |
A |
8: 111,779,134 (GRCm39) |
T756K |
possibly damaging |
Het |
| Abca9 |
A |
T |
11: 110,049,052 (GRCm39) |
M252K |
probably benign |
Het |
| Acan |
A |
G |
7: 78,749,705 (GRCm39) |
E1492G |
probably benign |
Het |
| Arid1a |
C |
A |
4: 133,414,562 (GRCm39) |
R1223L |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,933,733 (GRCm39) |
L2003S |
probably damaging |
Het |
| Cct8 |
A |
T |
16: 87,287,220 (GRCm39) |
|
probably null |
Het |
| Dagla |
T |
C |
19: 10,229,467 (GRCm39) |
T598A |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,378,600 (GRCm39) |
I194V |
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,870,541 (GRCm39) |
N387D |
possibly damaging |
Het |
| Fn1 |
C |
T |
1: 71,653,195 (GRCm39) |
|
probably null |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gnrhr |
C |
T |
5: 86,345,608 (GRCm39) |
G26D |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,579,977 (GRCm39) |
L1920Q |
probably damaging |
Het |
| Kank2 |
T |
A |
9: 21,681,061 (GRCm39) |
I823F |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
| Mfsd6 |
T |
A |
1: 52,715,672 (GRCm39) |
N535I |
probably damaging |
Het |
| Mgat5 |
T |
C |
1: 127,374,036 (GRCm39) |
Y479H |
probably benign |
Het |
| Ncoa7 |
G |
A |
10: 30,530,431 (GRCm39) |
T701I |
probably damaging |
Het |
| Or6c2 |
T |
C |
10: 129,362,918 (GRCm39) |
V274A |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,709,723 (GRCm39) |
R531G |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,469,284 (GRCm39) |
H51R |
probably damaging |
Het |
| Pdik1l |
G |
A |
4: 134,011,559 (GRCm39) |
Q95* |
probably null |
Het |
| Ppp4r3b |
A |
T |
11: 29,150,741 (GRCm39) |
H469L |
possibly damaging |
Het |
| Prnp |
A |
G |
2: 131,779,046 (GRCm39) |
T233A |
probably benign |
Het |
| Rcan1 |
T |
C |
16: 92,190,484 (GRCm39) |
T152A |
possibly damaging |
Het |
| Setd1a |
G |
A |
7: 127,398,327 (GRCm39) |
|
probably benign |
Het |
| Slc40a1 |
G |
A |
1: 45,950,044 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,899,318 (GRCm39) |
C1589Y |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,868,027 (GRCm39) |
T1616A |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,956,451 (GRCm39) |
Y842H |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,215,806 (GRCm39) |
|
probably benign |
Het |
| Zcchc8 |
A |
G |
5: 123,838,660 (GRCm39) |
L626P |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,462,120 (GRCm39) |
H1240R |
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 |
|
IGL01784:Sema3g
|
APN |
14 |
30,944,924 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCACTTTGACCAGCTAGG -3'
(R):5'- TGACAGTGGCTGCTGAAAAC -3'
Sequencing Primer
(F):5'- CTAGGTAAGGGAATGGCCAACC -3'
(R):5'- TGGCTGCTGAAAACAAAGATTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation