Incidental Mutation 'IGL01869:Sema3g'
ID178641
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema3g
Ensembl Gene ENSMUSG00000021904
Gene Namesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01869
Quality Score
Status
Chromosome14
Chromosomal Location31217860-31230352 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31223667 bp
ZygosityHeterozygous
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]
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

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700026F02Rik A G 8: 71,043,045 noncoding transcript Het
Adam29 T C 8: 55,871,697 H574R probably damaging Het
Arap1 C A 7: 101,400,283 T984K probably damaging Het
Ccdc146 A T 5: 21,316,839 S396T probably benign Het
Col6a3 T C 1: 90,773,048 K2587E unknown Het
Cyp3a44 A G 5: 145,790,686 S278P probably damaging Het
Daw1 T G 1: 83,182,244 probably benign Het
Dnah17 T C 11: 118,052,676 K3200R probably benign Het
Efhd2 A G 4: 141,874,602 F89S probably damaging Het
Fras1 A G 5: 96,708,783 probably benign Het
Ggps1 T C 13: 14,054,394 D68G probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm3604 A T 13: 62,370,140 C134S probably damaging Het
Gpaa1 A G 15: 76,332,998 T178A probably benign Het
Lama3 A G 18: 12,524,763 N312S possibly damaging Het
Npepps T C 11: 97,236,122 I437M probably damaging Het
Olfr1495 A G 19: 13,769,170 D276G probably benign Het
Olfr266 C T 3: 106,822,026 D178N probably benign Het
Rcor1 C A 12: 111,103,759 T330K possibly damaging Het
Sbno2 A G 10: 80,060,392 probably null Het
Smg9 A G 7: 24,416,524 D280G probably damaging Het
Smtnl1 A T 2: 84,811,397 *460R probably null Het
Syde1 A G 10: 78,588,919 C360R possibly damaging Het
Szt2 A G 4: 118,399,071 V197A possibly damaging Het
Tnrc6c T C 11: 117,755,448 V1405A possibly damaging Het
Ttbk1 A G 17: 46,447,063 S882P probably damaging Het
Tubgcp4 T A 2: 121,175,788 H116Q possibly damaging Het
Vmn1r192 T A 13: 22,187,580 N157Y probably damaging Het
Vmn1r60 C T 7: 5,544,229 V291M probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo5 C T 17: 46,242,207 P1184L possibly damaging Het
Zfp946 T G 17: 22,454,703 I146S probably benign Het
Other mutations in Sema3g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01626:Sema3g APN 14 31221727 missense probably damaging 1.00
IGL01650:Sema3g APN 14 31221787 missense probably benign 0.00
IGL01782:Sema3g APN 14 31227791 missense probably damaging 1.00
IGL01784:Sema3g APN 14 31222967 missense probably damaging 1.00
IGL01999:Sema3g APN 14 31217965 missense probably benign
IGL02095:Sema3g APN 14 31227824 missense probably benign 0.00
IGL02232:Sema3g APN 14 31221224 missense probably damaging 1.00
IGL02477:Sema3g APN 14 31227866 missense probably damaging 0.98
IGL02583:Sema3g APN 14 31221519 critical splice acceptor site probably null
R0791:Sema3g UTSW 14 31220904 splice site probably benign
R1225:Sema3g UTSW 14 31220679 missense probably damaging 1.00
R1471:Sema3g UTSW 14 31228045 missense probably damaging 1.00
R2303:Sema3g UTSW 14 31222615 missense probably damaging 1.00
R3968:Sema3g UTSW 14 31226521 critical splice donor site probably null
R3970:Sema3g UTSW 14 31226521 critical splice donor site probably null
R4406:Sema3g UTSW 14 31228159 missense probably benign 0.01
R4773:Sema3g UTSW 14 31220709 missense probably benign 0.04
RF021:Sema3g UTSW 14 31227841 missense probably damaging 1.00
X0013:Sema3g UTSW 14 31222111 missense probably benign 0.02
Posted On2014-05-07