Incidental Mutation 'IGL01128:Sema3e'
ID 51157
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema3e
Ensembl Gene ENSMUSG00000063531
Gene Name sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
Synonyms Semah
Accession Numbers
Essential gene? Possibly essential (E-score: 0.509) question?
Stock # IGL01128
Quality Score
Status
Chromosome 5
Chromosomal Location 14075290-14306703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 14282129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 422 (P422S)
Ref Sequence ENSEMBL: ENSMUSP00000073612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073957]
AlphaFold P70275
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: 76,834,475 (GRCm39) V124I probably damaging Het
Adgrf5 G T 17: 43,733,400 (GRCm39) D75Y possibly damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Ahi1 A G 10: 20,950,332 (GRCm39) T128A probably benign Het
Bves T A 10: 45,229,944 (GRCm39) F249L probably damaging Het
Capns1 T C 7: 29,889,558 (GRCm39) I214V probably benign Het
Cgnl1 G T 9: 71,631,843 (GRCm39) Q503K possibly damaging Het
Ep300 A G 15: 81,514,207 (GRCm39) probably benign Het
Fam117b T A 1: 60,008,177 (GRCm39) F337Y probably damaging Het
Fam178b A T 1: 36,683,435 (GRCm39) V95E probably damaging Het
Gak T A 5: 108,740,236 (GRCm39) M560L probably damaging Het
Gna11 C A 10: 81,366,718 (GRCm39) A331S probably damaging Het
Gtf3c3 A C 1: 54,468,035 (GRCm39) F201V possibly damaging Het
Kat6b G A 14: 21,710,928 (GRCm39) R734H probably benign Het
Lag3 T C 6: 124,886,380 (GRCm39) D191G probably damaging Het
Mttp T A 3: 137,839,758 (GRCm39) probably null Het
Nlgn3 A T X: 100,363,698 (GRCm39) T790S probably benign Het
Or11g27 A G 14: 50,771,406 (GRCm39) D179G probably damaging Het
Or5b123 G A 19: 13,597,110 (GRCm39) E195K probably damaging Het
Pkd2l2 T A 18: 34,550,068 (GRCm39) Y238N probably damaging Het
Plg A T 17: 12,615,586 (GRCm39) probably benign Het
Ptprm A T 17: 67,349,096 (GRCm39) C376S probably damaging Het
Rexo1 T C 10: 80,385,573 (GRCm39) D495G probably benign Het
Rims1 A T 1: 22,573,256 (GRCm39) V315D probably damaging Het
Ros1 G A 10: 52,018,424 (GRCm39) Q745* probably null Het
Satb1 A G 17: 52,112,317 (GRCm39) V99A probably damaging Het
Stkld1 G T 2: 26,841,483 (GRCm39) W476L probably benign Het
Syna T C 5: 134,588,334 (GRCm39) D205G probably damaging Het
Tas2r134 G T 2: 51,517,671 (GRCm39) C50F probably damaging Het
Togaram1 A G 12: 65,027,650 (GRCm39) T880A probably benign Het
Uckl1 T C 2: 181,212,130 (GRCm39) E363G probably damaging Het
Yeats2 T A 16: 19,980,718 (GRCm39) probably benign Het
Other mutations in Sema3e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Sema3e APN 5 14,290,586 (GRCm39) missense probably damaging 1.00
IGL01068:Sema3e APN 5 14,283,732 (GRCm39) critical splice donor site probably null
IGL01134:Sema3e APN 5 14,302,784 (GRCm39) missense probably damaging 1.00
IGL02013:Sema3e APN 5 14,280,207 (GRCm39) missense probably damaging 1.00
IGL02051:Sema3e APN 5 14,274,324 (GRCm39) missense possibly damaging 0.77
IGL02309:Sema3e APN 5 14,274,404 (GRCm39) missense probably damaging 0.98
IGL02636:Sema3e APN 5 14,275,670 (GRCm39) missense probably benign
IGL02702:Sema3e APN 5 14,283,740 (GRCm39) splice site probably benign
IGL03001:Sema3e APN 5 14,291,057 (GRCm39) missense probably benign 0.19
R0011:Sema3e UTSW 5 14,194,025 (GRCm39) nonsense probably null
R0098:Sema3e UTSW 5 14,302,446 (GRCm39) missense possibly damaging 0.52
R0098:Sema3e UTSW 5 14,302,446 (GRCm39) missense possibly damaging 0.52
R0220:Sema3e UTSW 5 14,214,167 (GRCm39) missense possibly damaging 0.56
R0564:Sema3e UTSW 5 14,286,099 (GRCm39) critical splice donor site probably null
R1079:Sema3e UTSW 5 14,275,669 (GRCm39) missense probably benign 0.12
R1187:Sema3e UTSW 5 14,282,098 (GRCm39) missense probably damaging 1.00
R1670:Sema3e UTSW 5 14,212,199 (GRCm39) splice site probably benign
R1736:Sema3e UTSW 5 14,260,390 (GRCm39) missense probably damaging 1.00
R3433:Sema3e UTSW 5 14,302,728 (GRCm39) missense probably benign 0.00
R3831:Sema3e UTSW 5 14,276,496 (GRCm39) missense probably damaging 1.00
R4094:Sema3e UTSW 5 14,283,704 (GRCm39) missense probably benign 0.12
R4580:Sema3e UTSW 5 14,283,717 (GRCm39) missense probably damaging 1.00
R4828:Sema3e UTSW 5 14,276,654 (GRCm39) missense probably damaging 1.00
R4855:Sema3e UTSW 5 14,280,144 (GRCm39) missense probably damaging 0.99
R4884:Sema3e UTSW 5 14,275,579 (GRCm39) missense probably damaging 1.00
R4960:Sema3e UTSW 5 14,302,646 (GRCm39) missense possibly damaging 0.93
R5264:Sema3e UTSW 5 14,276,662 (GRCm39) missense probably damaging 1.00
R5389:Sema3e UTSW 5 14,286,099 (GRCm39) critical splice donor site probably benign
R5512:Sema3e UTSW 5 14,280,194 (GRCm39) missense probably damaging 1.00
R5642:Sema3e UTSW 5 14,212,257 (GRCm39) missense probably damaging 1.00
R5647:Sema3e UTSW 5 14,275,567 (GRCm39) missense probably damaging 0.99
R5814:Sema3e UTSW 5 14,275,680 (GRCm39) missense probably benign 0.01
R5993:Sema3e UTSW 5 14,274,307 (GRCm39) missense probably damaging 1.00
R6076:Sema3e UTSW 5 14,291,100 (GRCm39) missense probably benign 0.01
R6906:Sema3e UTSW 5 14,290,601 (GRCm39) missense probably damaging 1.00
R7432:Sema3e UTSW 5 14,274,404 (GRCm39) missense probably damaging 0.98
R8738:Sema3e UTSW 5 14,214,169 (GRCm39) missense possibly damaging 0.95
R8849:Sema3e UTSW 5 14,302,673 (GRCm39) missense probably damaging 1.00
R8879:Sema3e UTSW 5 14,282,108 (GRCm39) missense probably benign 0.16
R8935:Sema3e UTSW 5 14,282,127 (GRCm39) missense probably damaging 0.97
R9071:Sema3e UTSW 5 14,282,154 (GRCm39) missense probably benign 0.00
R9100:Sema3e UTSW 5 14,282,208 (GRCm39) missense probably damaging 1.00
R9367:Sema3e UTSW 5 14,291,084 (GRCm39) missense probably benign 0.00
R9444:Sema3e UTSW 5 14,302,625 (GRCm39) missense possibly damaging 0.63
R9478:Sema3e UTSW 5 14,286,386 (GRCm39) missense probably damaging 1.00
R9601:Sema3e UTSW 5 14,302,397 (GRCm39) missense possibly damaging 0.95
R9671:Sema3e UTSW 5 14,212,217 (GRCm39) missense probably benign 0.00
X0064:Sema3e UTSW 5 14,280,156 (GRCm39) missense probably benign 0.05
Z1088:Sema3e UTSW 5 14,276,470 (GRCm39) missense probably damaging 0.97
Z1177:Sema3e UTSW 5 14,075,725 (GRCm39) start gained probably benign
Posted On 2013-06-21