Incidental Mutation 'IGL01128:Sema3e'
ID51157
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: 0.455) question?
Stock #IGL01128
Quality Score
Status
Chromosome5
Chromosomal Location14025276-14256689 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 14232115 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 422 (P422S)
Ref Sequence ENSEMBL: ENSMUSP00000073612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073957]
Predicted Effect probably damaging
Transcript: ENSMUST00000073957
AA Change: P422S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073612
Gene: ENSMUSG00000063531
AA Change: P422S

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Ahi1 A G 10: 21,074,433 T128A probably benign Het
Bves T A 10: 45,353,848 F249L probably damaging Het
Capns1 T C 7: 30,190,133 I214V probably benign Het
Cgnl1 G T 9: 71,724,561 Q503K possibly damaging Het
Ep300 A G 15: 81,630,006 probably benign Het
Fam117b T A 1: 59,969,018 F337Y probably damaging Het
Fam178b A T 1: 36,644,354 V95E probably damaging Het
Gak T A 5: 108,592,370 M560L probably damaging Het
Gna11 C A 10: 81,530,884 A331S probably damaging Het
Gtf3c3 A C 1: 54,428,876 F201V possibly damaging Het
Kat6b G A 14: 21,660,860 R734H probably benign Het
Lag3 T C 6: 124,909,417 D191G probably damaging Het
Mttp T A 3: 138,133,997 probably null Het
Nlgn3 A T X: 101,320,092 T790S probably benign Het
Olfr1487 G A 19: 13,619,746 E195K probably damaging Het
Olfr743 A G 14: 50,533,949 D179G probably damaging Het
Pkd2l2 T A 18: 34,417,015 Y238N probably damaging Het
Plg A T 17: 12,396,699 probably benign Het
Ptprm A T 17: 67,042,101 C376S probably damaging Het
Rexo1 T C 10: 80,549,739 D495G probably benign Het
Rims1 A T 1: 22,534,175 V315D probably damaging Het
Ros1 G A 10: 52,142,328 Q745* probably null Het
Satb1 A G 17: 51,805,289 V99A probably damaging Het
Stkld1 G T 2: 26,951,471 W476L probably benign Het
Syna T C 5: 134,559,480 D205G probably damaging Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Togaram1 A G 12: 64,980,876 T880A probably benign Het
Uckl1 T C 2: 181,570,337 E363G probably damaging Het
Yeats2 T A 16: 20,161,968 probably benign 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
IGL01134:Sema3e APN 5 14252770 missense probably damaging 1.00
IGL02013:Sema3e APN 5 14230193 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
X0064:Sema3e UTSW 5 14230142 missense probably benign 0.05
Z1088:Sema3e UTSW 5 14226456 missense probably damaging 0.97
Posted On2013-06-21