Incidental Mutation 'IGL01784:Sema3g'
ID154238
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 #IGL01784
Quality Score
Status
Chromosome14
Chromosomal Location31217860-31230352 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31222967 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 349 (I349T)
Ref Sequence ENSEMBL: ENSMUSP00000087643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090180]
Predicted Effect probably damaging
Transcript: ENSMUST00000090180
AA Change: I349T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087643
Gene: ENSMUSG00000021904
AA Change: I349T

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,880,619 P309L possibly damaging Het
Abca4 A T 3: 122,138,505 K269N probably benign Het
Abcb5 T C 12: 118,890,664 T839A probably benign Het
Adcy7 A G 8: 88,314,123 D30G probably damaging Het
Aldh3b1 A G 19: 3,921,217 I149T probably benign Het
Ap3b1 A G 13: 94,493,739 D199G probably damaging Het
Ddo A G 10: 40,631,788 probably benign Het
Ensa T A 3: 95,628,533 probably benign Het
Etnppl A G 3: 130,631,778 I405V possibly damaging Het
Fam129a T A 1: 151,649,365 Y174N probably damaging Het
Fam171b T A 2: 83,879,687 L568M possibly damaging Het
Fmn2 A G 1: 174,502,428 D128G unknown Het
Fra10ac1 T A 19: 38,219,677 H43L probably benign Het
Gm10436 A G 12: 88,176,315 Y178H probably benign Het
Gm7589 T C 9: 59,146,027 noncoding transcript Het
Gsx1 A G 5: 147,190,129 D254G probably benign Het
Hoxb6 A G 11: 96,300,813 E187G probably damaging Het
Kmt2c A T 5: 25,313,526 I2385N probably damaging Het
Lman1l T C 9: 57,620,564 Y36C probably damaging Het
Mc3r T A 2: 172,249,370 C171S probably benign Het
Mccc1 T G 3: 35,976,748 N390H probably damaging Het
Mphosph9 T C 5: 124,265,310 probably benign Het
Nfic T C 10: 81,406,148 D364G possibly damaging Het
Npy A G 6: 49,829,334 probably benign Het
Olfr767 C T 10: 129,079,355 V203M probably benign Het
Osbpl3 A G 6: 50,344,922 S75P probably damaging Het
Plekhg4 G T 8: 105,378,957 A685S probably damaging Het
Prss53 T C 7: 127,886,552 T539A probably benign Het
Rnf43 T A 11: 87,731,806 S537T possibly damaging Het
Rpgrip1l G A 8: 91,270,461 T597I possibly damaging Het
Rtn4 C A 11: 29,707,291 Q482K probably damaging Het
Sh3gl1 A C 17: 56,019,325 S108A possibly damaging Het
Tmc7 A T 7: 118,547,315 probably null Het
Tmem131 G A 1: 36,815,483 T131I probably damaging Het
Vac14 T C 8: 110,671,168 L505P probably benign Het
Wasf2 A G 4: 133,192,128 Q231R unknown Het
Wnt7a A G 6: 91,365,857 C348R probably damaging Het
Zkscan6 T A 11: 65,814,721 L86Q probably damaging 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
IGL01869:Sema3g APN 14 31223667 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 On2014-02-04