Incidental Mutation 'IGL00503:Sema3e'
ID 332489
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 # IGL00503
Quality Score
Status
Chromosome 5
Chromosomal Location 14075290-14306703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 14290586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Methionine at position 557 (R557M)
Ref Sequence ENSEMBL: ENSMUSP00000073612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073957]
AlphaFold P70275
Predicted Effect probably damaging
Transcript: ENSMUST00000073957
AA Change: R557M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073612
Gene: ENSMUSG00000063531
AA Change: R557M

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: ENSMUST00000197397
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 69,083,173 (GRCm39) R14* probably null Het
Abcb5 A G 12: 118,871,336 (GRCm39) S688P probably benign Het
Adgb T A 10: 10,281,843 (GRCm39) Q597L possibly damaging Het
Aga G A 8: 53,971,956 (GRCm39) V210I probably benign Het
Akap17b A G X: 35,875,963 (GRCm39) S515P probably damaging Het
Brinp3 A T 1: 146,776,905 (GRCm39) T451S probably benign Het
Cabcoco1 G T 10: 68,377,635 (GRCm39) T18N possibly damaging Het
Ccar2 C T 14: 70,379,980 (GRCm39) W402* probably null Het
Ccdc15 G A 9: 37,231,769 (GRCm39) A185V probably damaging Het
Ccdc50 G A 16: 27,228,102 (GRCm39) E90K probably damaging Het
Cckbr G A 7: 105,083,449 (GRCm39) M217I probably benign Het
Clec16a A G 16: 10,512,513 (GRCm39) T398A possibly damaging Het
Col4a1 A G 8: 11,290,076 (GRCm39) probably benign Het
Cyp4v3 T A 8: 45,760,058 (GRCm39) E498V probably damaging Het
Dgke T C 11: 88,932,327 (GRCm39) I488V probably benign Het
Dip2c A G 13: 9,617,934 (GRCm39) D443G probably damaging Het
Edem3 T G 1: 151,694,264 (GRCm39) S852A probably benign Het
Fbxo8 T A 8: 57,041,058 (GRCm39) M158K probably benign Het
Galnt15 C T 14: 31,774,313 (GRCm39) T359M possibly damaging Het
Herc6 A G 6: 57,584,130 (GRCm39) N330D probably benign Het
Kdf1 T C 4: 133,255,468 (GRCm39) S62P probably damaging Het
Larp4 T A 15: 99,885,302 (GRCm39) I51N probably damaging Het
Mfsd6l T A 11: 68,447,299 (GRCm39) I50N probably damaging Het
Mroh2b A G 15: 4,928,679 (GRCm39) Y4C probably benign Het
Muc17 G T 5: 137,165,971 (GRCm39) Y343* probably null Het
Myom2 A C 8: 15,164,289 (GRCm39) probably null Het
Npat A T 9: 53,483,949 (GRCm39) probably benign Het
Pamr1 A T 2: 102,472,617 (GRCm39) I639F possibly damaging Het
Pcsk2 A G 2: 143,635,159 (GRCm39) S345G probably damaging Het
Pcyt1a A G 16: 32,285,919 (GRCm39) T197A probably damaging Het
Pkd1 A G 17: 24,784,401 (GRCm39) M316V probably benign Het
Plekhs1 T C 19: 56,453,031 (GRCm39) probably null Het
Sgsm1 T C 5: 113,424,008 (GRCm39) N154S probably benign Het
Smg1 A T 7: 117,784,706 (GRCm39) probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spats1 A T 17: 45,765,011 (GRCm39) probably null Het
Tnfaip6 T G 2: 51,945,859 (GRCm39) V235G probably damaging Het
Trim34a A T 7: 103,910,538 (GRCm39) T447S probably damaging Het
Tut1 G A 19: 8,936,460 (GRCm39) A95T probably damaging Het
Urgcp C T 11: 5,666,448 (GRCm39) R630Q possibly damaging Het
Vmn1r125 G T 7: 21,006,106 (GRCm39) M1I probably null Het
Vmn2r99 A G 17: 19,599,116 (GRCm39) T267A probably benign Het
Wdr5 A G 2: 27,410,879 (GRCm39) K162E probably benign Het
Zscan26 T G 13: 21,629,271 (GRCm39) K285Q probably damaging Het
Other mutations in Sema3e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Sema3e APN 5 14,283,732 (GRCm39) critical splice donor site probably null
IGL01128:Sema3e APN 5 14,282,129 (GRCm39) missense probably damaging 1.00
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 2015-08-05