Incidental Mutation 'R3968:Sema3g'
| ID |
312454 |
| 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 |
040936-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3968 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30939830-30952309 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 30948478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090180]
|
| AlphaFold |
Q4LFA9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090180
|
| SMART Domains |
Protein: ENSMUSP00000087643
Gene: ENSMUSG00000021904
| 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 |
0.9491 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.1%
|
| Validation Efficiency |
98% (40/41) |
| 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 |
|---|
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Camk4 |
T |
A |
18: 33,312,634 (GRCm39) |
I258N |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,271 (GRCm39) |
N781I |
probably damaging |
Het |
| Cela1 |
C |
T |
15: 100,582,534 (GRCm39) |
G93S |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cysltr2 |
A |
G |
14: 73,267,614 (GRCm39) |
I32T |
probably damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fcho2 |
A |
T |
13: 98,871,564 (GRCm39) |
S551T |
probably benign |
Het |
| Fzd8 |
T |
C |
18: 9,214,070 (GRCm39) |
V384A |
probably damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| H2-M2 |
C |
T |
17: 37,792,197 (GRCm39) |
G318S |
possibly damaging |
Het |
| Il21r |
G |
T |
7: 125,227,215 (GRCm39) |
|
probably null |
Het |
| Itgam |
T |
C |
7: 127,712,205 (GRCm39) |
Y697H |
probably damaging |
Het |
| Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
| Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
| Net1 |
A |
G |
13: 3,957,795 (GRCm39) |
|
probably null |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Oard1 |
T |
C |
17: 48,722,282 (GRCm39) |
Y93H |
probably damaging |
Het |
| Or4n5 |
A |
T |
14: 50,132,983 (GRCm39) |
I92N |
probably damaging |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pcm1 |
T |
C |
8: 41,778,867 (GRCm39) |
L1825P |
probably damaging |
Het |
| Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,742,382 (GRCm39) |
D1058E |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,918,196 (GRCm39) |
|
probably null |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Slc19a1 |
T |
C |
10: 76,877,680 (GRCm39) |
Y72H |
probably damaging |
Het |
| Sntb2 |
T |
A |
8: 107,723,772 (GRCm39) |
Y340* |
probably null |
Het |
| Srrm4 |
A |
G |
5: 116,582,803 (GRCm39) |
|
probably benign |
Het |
| Ssb |
C |
T |
2: 69,697,793 (GRCm39) |
|
probably benign |
Het |
| Sval2 |
T |
A |
6: 41,838,861 (GRCm39) |
V14E |
probably damaging |
Het |
| Tmc2 |
T |
G |
2: 130,043,991 (GRCm39) |
V75G |
probably benign |
Het |
| Tnnc2 |
T |
C |
2: 164,619,457 (GRCm39) |
E129G |
possibly damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
| Yap1 |
C |
T |
9: 7,973,877 (GRCm39) |
R188Q |
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 |
|
R2303:Sema3g
|
UTSW |
14 |
30,944,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TAGTTCCCTTGCTGACCTGG -3'
(R):5'- GCGTTAGCATAGGAACCTTCC -3'
Sequencing Primer
(F):5'- GGCCTGATCCTCTCTACAGAAG -3'
(R):5'- ATCCCCCTCACAGAGTAGGGAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation