Incidental Mutation 'IGL02013:Sema3e'
ID183420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema3e
Ensembl Gene ENSMUSG00000063531
Gene Namesema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SynonymsSemah
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.490) question?
Stock #IGL02013
Quality Score
Status
Chromosome5
Chromosomal Location14025276-14256689 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 14230193 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 362 (G362D)
Ref Sequence ENSEMBL: ENSMUSP00000073612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073957]
AlphaFold P70275
Predicted Effect probably damaging
Transcript: ENSMUST00000073957
AA Change: G362D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073612
Gene: ENSMUSG00000063531
AA Change: G362D

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Sema 58 500 1.85e-194 SMART
PSI 518 573 1.81e-10 SMART
IG 587 673 5.75e-4 SMART
low complexity region 737 750 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130116
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199698
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice display abnormal intersomitic vacular development and loss of the normal segmented somite pattern. Homozygous mutants for another allele have Bergmeister papillae on the surface of the optic disc. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,047,066 Y543C probably damaging Het
Acp4 G T 7: 44,255,081 T186N probably benign Het
Adgrg6 T A 10: 14,426,811 M953L probably damaging Het
Armc4 A G 18: 7,265,157 probably benign Het
Cp C A 3: 19,988,049 H994N probably damaging Het
Csmd2 G A 4: 128,321,323 D513N possibly damaging Het
Gm28557 A G 13: 67,071,052 F248L probably benign Het
Nup155 G T 15: 8,113,648 M100I possibly damaging Het
Olfr251 G A 9: 38,378,077 M59I probably benign Het
Olfr875 A G 9: 37,772,889 I77V probably benign Het
Pgm2 G A 4: 99,983,961 probably benign Het
Reln A G 5: 21,950,879 F2205S probably damaging Het
Scmh1 G A 4: 120,483,732 R205Q possibly damaging Het
Sftpb C T 6: 72,305,671 T79I probably benign Het
Sgcd C A 11: 46,980,943 probably benign Het
Shprh T A 10: 11,181,502 probably benign Het
Ssc5d C T 7: 4,943,836 S1063F probably benign Het
Tdrd6 T C 17: 43,625,946 T1404A probably benign Het
Theg T C 10: 79,579,935 probably null Het
Vmn2r67 G A 7: 85,151,655 P358S probably benign Het
Wnk2 A T 13: 49,082,034 M635K possibly damaging Het
Zfp474 C A 18: 52,638,899 A208D possibly damaging Het
Other mutations in Sema3e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Sema3e APN 5 14240572 missense probably damaging 1.00
IGL01068:Sema3e APN 5 14233718 critical splice donor site probably null
IGL01128:Sema3e APN 5 14232115 missense probably damaging 1.00
IGL01134:Sema3e APN 5 14252770 missense probably damaging 1.00
IGL02051:Sema3e APN 5 14224310 missense possibly damaging 0.77
IGL02309:Sema3e APN 5 14224390 missense probably damaging 0.98
IGL02636:Sema3e APN 5 14225656 missense probably benign
IGL02702:Sema3e APN 5 14233726 splice site probably benign
IGL03001:Sema3e APN 5 14241043 missense probably benign 0.19
R0011:Sema3e UTSW 5 14144011 nonsense probably null
R0098:Sema3e UTSW 5 14252432 missense possibly damaging 0.52
R0098:Sema3e UTSW 5 14252432 missense possibly damaging 0.52
R0220:Sema3e UTSW 5 14164153 missense possibly damaging 0.56
R0564:Sema3e UTSW 5 14236085 critical splice donor site probably null
R1079:Sema3e UTSW 5 14225655 missense probably benign 0.12
R1187:Sema3e UTSW 5 14232084 missense probably damaging 1.00
R1670:Sema3e UTSW 5 14162185 splice site probably benign
R1736:Sema3e UTSW 5 14210376 missense probably damaging 1.00
R3433:Sema3e UTSW 5 14252714 missense probably benign 0.00
R3831:Sema3e UTSW 5 14226482 missense probably damaging 1.00
R4094:Sema3e UTSW 5 14233690 missense probably benign 0.12
R4580:Sema3e UTSW 5 14233703 missense probably damaging 1.00
R4828:Sema3e UTSW 5 14226640 missense probably damaging 1.00
R4855:Sema3e UTSW 5 14230130 missense probably damaging 0.99
R4884:Sema3e UTSW 5 14225565 missense probably damaging 1.00
R4960:Sema3e UTSW 5 14252632 missense possibly damaging 0.93
R5264:Sema3e UTSW 5 14226648 missense probably damaging 1.00
R5389:Sema3e UTSW 5 14236085 critical splice donor site probably benign
R5512:Sema3e UTSW 5 14230180 missense probably damaging 1.00
R5642:Sema3e UTSW 5 14162243 missense probably damaging 1.00
R5647:Sema3e UTSW 5 14225553 missense probably damaging 0.99
R5814:Sema3e UTSW 5 14225666 missense probably benign 0.01
R5993:Sema3e UTSW 5 14224293 missense probably damaging 1.00
R6076:Sema3e UTSW 5 14241086 missense probably benign 0.01
R6906:Sema3e UTSW 5 14240587 missense probably damaging 1.00
R7432:Sema3e UTSW 5 14224390 missense probably damaging 0.98
R8738:Sema3e UTSW 5 14164155 missense possibly damaging 0.95
R8849:Sema3e UTSW 5 14252659 missense probably damaging 1.00
R8879:Sema3e UTSW 5 14232094 missense probably benign 0.16
R8935:Sema3e UTSW 5 14232113 missense probably damaging 0.97
R9071:Sema3e UTSW 5 14232140 missense probably benign 0.00
R9100:Sema3e UTSW 5 14232194 missense probably damaging 1.00
X0064:Sema3e UTSW 5 14230142 missense probably benign 0.05
Z1088:Sema3e UTSW 5 14226456 missense probably damaging 0.97
Z1177:Sema3e UTSW 5 14025711 start gained probably benign
Posted On2014-05-07