Incidental Mutation 'R7968:Sema3g'
ID 650479
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 046011-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7968 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 30939830-30952309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30942605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 69 (R69S)
Ref Sequence ENSEMBL: ENSMUSP00000087643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090180]
AlphaFold Q4LFA9
Predicted Effect probably damaging
Transcript: ENSMUST00000090180
AA Change: R69S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087643
Gene: ENSMUSG00000021904
AA Change: R69S

DomainStartEndE-ValueType
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 0.7868 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (47/47)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,922,441 (GRCm39) T35A Het
Adamts16 A C 13: 70,886,701 (GRCm39) S1030A probably benign Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Aff4 C T 11: 53,300,175 (GRCm39) T1026I probably damaging Het
Arfgef1 T C 1: 10,243,145 (GRCm39) Y1065C probably damaging Het
Arhgef3 G T 14: 27,108,070 (GRCm39) D192Y probably damaging Het
Arhgef3 G A 14: 27,116,062 (GRCm39) R268Q probably damaging Het
Atp6v0e T A 17: 26,913,885 (GRCm39) probably null Het
B3galt9 A G 2: 34,728,257 (GRCm39) N19D probably damaging Het
Cenpc1 A G 5: 86,181,551 (GRCm39) Y605H probably benign Het
Cftr T C 6: 18,226,048 (GRCm39) V332A probably benign Het
Csmd2 A G 4: 128,091,118 (GRCm39) H219R Het
Csnk1g3 C T 18: 54,028,726 (GRCm39) probably benign Het
Cyp4f17 T C 17: 32,743,116 (GRCm39) V263A possibly damaging Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Entrep1 G T 19: 23,962,091 (GRCm39) T304K probably damaging Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Gstm4 A T 3: 107,951,677 (GRCm39) M35K probably damaging Het
Kcna2 A G 3: 107,012,460 (GRCm39) Y347C possibly damaging Het
Kcnh7 G A 2: 62,566,444 (GRCm39) T829M probably damaging Het
Kcnu1 T C 8: 26,400,898 (GRCm39) V682A probably benign Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Kera A G 10: 97,444,821 (GRCm39) E60G possibly damaging Het
Letm2 C T 8: 26,083,766 (GRCm39) G155D probably damaging Het
Lrfn4 G A 19: 4,663,343 (GRCm39) A397V probably benign Het
Lrp4 A G 2: 91,324,424 (GRCm39) Q1253R possibly damaging Het
Mob1a T A 6: 83,315,287 (GRCm39) M145K probably benign Het
Nab1 A G 1: 52,529,295 (GRCm39) C201R probably damaging Het
Nlrp9b A G 7: 19,762,493 (GRCm39) E710G probably benign Het
Oas2 A G 5: 120,876,437 (GRCm39) V502A probably benign Het
Or1e26 T C 11: 73,480,154 (GRCm39) S137G probably benign Het
Or52d3 T A 7: 104,229,595 (GRCm39) C247* probably null Het
Or52h7 A T 7: 104,213,857 (GRCm39) H143L probably benign Het
Parg A T 14: 31,936,327 (GRCm39) H494L possibly damaging Het
Phf20 T A 2: 156,135,464 (GRCm39) D600E probably benign Het
Ppef2 G A 5: 92,397,022 (GRCm39) R118C probably damaging Het
Ptprz1 T A 6: 22,959,675 (GRCm39) N57K probably damaging Het
Rrbp1 A T 2: 143,832,081 (GRCm39) S29T probably damaging Het
Slc12a4 G A 8: 106,678,237 (GRCm39) R319W possibly damaging Het
Slc4a3 A G 1: 75,528,007 (GRCm39) T419A probably benign Het
Smc3 T C 19: 53,611,649 (GRCm39) probably null Het
Sntg1 C T 1: 8,535,760 (GRCm39) W288* probably null Het
Synpo2l G T 14: 20,716,870 (GRCm39) probably null Het
Tap1 A G 17: 34,413,886 (GRCm39) I634V probably damaging Het
Tmem25 A G 9: 44,706,983 (GRCm39) S278P probably benign Het
Togaram2 T C 17: 72,024,428 (GRCm39) S871P probably benign Het
Trim37 T C 11: 87,040,179 (GRCm39) V225A possibly damaging Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Other mutations in Sema3g
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGCTGGGATCTTCATTCCCAC -3'
(R):5'- TGCGGACACATTCCACCTTC -3'

Sequencing Primer
(F):5'- ATTCCCACTTCCTGGCTGAGAG -3'
(R):5'- TGGCAGCCACAAGACCTG -3'
Posted On 2020-09-15