Incidental Mutation 'IGL01626:Sema3g'
ID 92743
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) question?
Stock # IGL01626
Quality Score
Status
Chromosome 14
Chromosomal Location 30939830-30952309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30943684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 188 (Y188F)
Ref Sequence ENSEMBL: ENSMUSP00000087643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090180]
AlphaFold Q4LFA9
Predicted Effect probably damaging
Transcript: ENSMUST00000090180
AA Change: Y188F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087643
Gene: ENSMUSG00000021904
AA Change: Y188F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167602
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 59,926,595 (GRCm39) D188G probably damaging Het
Aoc1 A G 6: 48,883,465 (GRCm39) Y447C probably damaging Het
Brd1 A T 15: 88,585,090 (GRCm39) L915M probably damaging Het
Cacna2d3 T A 14: 28,665,564 (GRCm39) E152D possibly damaging Het
Dnase2b A G 3: 146,290,371 (GRCm39) probably null Het
Ecpas G A 4: 58,832,814 (GRCm39) probably benign Het
Fat4 T C 3: 39,005,181 (GRCm39) V1860A probably damaging Het
Fbxl5 C A 5: 43,916,047 (GRCm39) G455V probably benign Het
Fpr-rs4 G A 17: 18,242,493 (GRCm39) V167M probably damaging Het
Fut7 C A 2: 25,315,343 (GRCm39) Y153* probably null Het
Gnptab A G 10: 88,273,357 (GRCm39) T1045A probably damaging Het
Gucy1a1 T A 3: 82,015,926 (GRCm39) D354V probably damaging Het
Gucy2e A G 11: 69,123,681 (GRCm39) V406A possibly damaging Het
Herc2 T C 7: 55,734,890 (GRCm39) F160S probably benign Het
Ice2 T G 9: 69,314,614 (GRCm39) V42G probably benign Het
L3mbtl4 A G 17: 68,937,197 (GRCm39) Y406C probably damaging Het
Lepr C T 4: 101,590,731 (GRCm39) T103I probably benign Het
Ly75 T A 2: 60,131,359 (GRCm39) M1589L probably benign Het
Map4k3 A G 17: 80,913,238 (GRCm39) V644A probably damaging Het
Micall1 A G 15: 79,014,712 (GRCm39) D696G possibly damaging Het
Muc4 T C 16: 32,555,220 (GRCm39) V8A possibly damaging Het
Myo1h A G 5: 114,453,027 (GRCm39) D9G probably damaging Het
Nop14 T A 5: 34,806,689 (GRCm39) K472* probably null Het
Npat T A 9: 53,467,871 (GRCm39) D275E possibly damaging Het
Nt5c1b A G 12: 10,424,798 (GRCm39) T115A probably benign Het
Or2d3c A T 7: 106,526,627 (GRCm39) I13N probably benign Het
Or6n1 A G 1: 173,917,122 (GRCm39) N172S probably damaging Het
Pnpla7 T A 2: 24,940,905 (GRCm39) S1086T possibly damaging Het
Pold1 C T 7: 44,182,796 (GRCm39) probably null Het
Ppfia1 A G 7: 144,035,456 (GRCm39) F1165L probably benign Het
Prlr T A 15: 10,328,804 (GRCm39) D426E probably benign Het
Ptgs2 G A 1: 149,979,478 (GRCm39) R231H probably damaging Het
Rorc A G 3: 94,296,094 (GRCm39) D91G probably damaging Het
Scaper C T 9: 55,819,335 (GRCm39) V127M possibly damaging Het
Slc45a3 G T 1: 131,906,725 (GRCm39) A400S possibly damaging Het
Slc9b2 C A 3: 135,042,156 (GRCm39) H478Q probably benign Het
Spg11 T A 2: 121,891,452 (GRCm39) H1973L probably damaging Het
Srgap3 A G 6: 112,750,609 (GRCm39) Y359H probably damaging Het
Stx16 T G 2: 173,935,813 (GRCm39) I248S probably damaging Het
Sytl3 A G 17: 7,002,839 (GRCm39) R287G probably damaging Het
Tiam1 T C 16: 89,609,856 (GRCm39) T82A probably damaging Het
Trpm1 T C 7: 63,918,637 (GRCm39) L659P probably damaging Het
Ttc13 G A 8: 125,400,477 (GRCm39) probably benign Het
Unc80 T C 1: 66,590,213 (GRCm39) probably null Het
Vldlr G T 19: 27,221,173 (GRCm39) R613L probably damaging Het
Wdr77 C T 3: 105,867,002 (GRCm39) R35* probably null Het
Zc3h14 T G 12: 98,745,445 (GRCm39) I478R possibly damaging Het
Zfp366 A G 13: 99,364,920 (GRCm39) H27R probably damaging Het
Other mutations in Sema3g
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-12-09