Incidental Mutation 'IGL03001:Sema3e'
ID 407354
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 # IGL03001
Quality Score
Status
Chromosome 5
Chromosomal Location 14075290-14306703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14291057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 606 (S606T)
Ref Sequence ENSEMBL: ENSMUSP00000073612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073957]
AlphaFold P70275
Predicted Effect probably benign
Transcript: ENSMUST00000073957
AA Change: S606T

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000073612
Gene: ENSMUSG00000063531
AA Change: S606T

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A C 7: 78,761,042 (GRCm39) D1918A probably damaging Het
Ahcy C A 2: 154,906,748 (GRCm39) D182Y probably damaging Het
Aldob T G 4: 49,542,844 (GRCm39) D110A probably damaging Het
Alkbh8 A T 9: 3,344,602 (GRCm39) M53L probably benign Het
Aqr T C 2: 113,977,400 (GRCm39) D363G probably benign Het
Asxl3 A G 18: 22,650,455 (GRCm39) R815G probably damaging Het
Atf4 T A 15: 80,140,858 (GRCm39) W83R probably damaging Het
Baz1a A T 12: 54,969,896 (GRCm39) M587K possibly damaging Het
Btbd8 T C 5: 107,645,708 (GRCm39) I9T probably damaging Het
Cactin T A 10: 81,161,568 (GRCm39) I700N probably damaging Het
Catsperg2 T C 7: 29,424,504 (GRCm39) S95G probably benign Het
Cd1d1 C T 3: 86,905,468 (GRCm39) S175N probably benign Het
Chd4 C A 6: 125,078,529 (GRCm39) A217E possibly damaging Het
Cnbd2 T C 2: 156,175,554 (GRCm39) probably null Het
Cntnap5c G A 17: 58,362,634 (GRCm39) C329Y probably damaging Het
Col12a1 C T 9: 79,540,955 (GRCm39) G2391R probably damaging Het
Col5a3 T A 9: 20,719,040 (GRCm39) D238V unknown Het
Cuedc1 T C 11: 88,073,315 (GRCm39) V160A probably benign Het
Depdc5 T C 5: 33,102,434 (GRCm39) V342A possibly damaging Het
Dnah6 T C 6: 73,126,123 (GRCm39) D1338G probably benign Het
Dpyd T C 3: 118,710,891 (GRCm39) V433A probably benign Het
Epb41l5 T C 1: 119,545,374 (GRCm39) H179R probably damaging Het
Fbf1 T C 11: 116,056,712 (GRCm39) probably benign Het
Flnb T C 14: 7,934,680 (GRCm38) S2251P probably damaging Het
Fsip2 A T 2: 82,820,968 (GRCm39) probably benign Het
Grin2b C T 6: 135,716,113 (GRCm39) V735M probably damaging Het
Itpr3 T G 17: 27,308,586 (GRCm39) probably benign Het
Lingo4 C T 3: 94,309,703 (GRCm39) R214C probably damaging Het
Lrp1b C T 2: 40,817,901 (GRCm39) R2329H probably damaging Het
Lrrc47 T C 4: 154,100,450 (GRCm39) L342P probably damaging Het
Mmp15 T C 8: 96,094,845 (GRCm39) S240P probably damaging Het
Ndufaf4 T A 4: 24,901,747 (GRCm39) N95K probably benign Het
Nms C T 1: 38,980,993 (GRCm39) P60S probably benign Het
Npas3 A T 12: 53,547,975 (GRCm39) Y77F probably damaging Het
Or2ak7 T G 11: 58,574,702 (GRCm39) M1R probably null Het
Or51f5 G T 7: 102,424,460 (GRCm39) C243F probably damaging Het
Or5d43 T A 2: 88,105,189 (GRCm39) D68V probably damaging Het
Or8d2b A G 9: 38,789,374 (GRCm39) M301V probably benign Het
Or9m2 T A 2: 87,820,493 (GRCm39) Y13N probably benign Het
Or9s27 T A 1: 92,516,273 (GRCm39) S74T probably damaging Het
Picalm T C 7: 89,831,454 (GRCm39) V429A probably benign Het
Pkhd1l1 T A 15: 44,421,400 (GRCm39) I3056N probably damaging Het
Pomt1 G T 2: 32,134,338 (GRCm39) M286I probably benign Het
Popdc2 A T 16: 38,189,881 (GRCm39) Y176F probably benign Het
Psg21 A T 7: 18,386,410 (GRCm39) M192K probably benign Het
Psma1 C A 7: 113,865,674 (GRCm39) A219S probably benign Het
Rad21l T G 2: 151,510,389 (GRCm39) H22P probably damaging Het
Rnf213 A G 11: 119,370,767 (GRCm39) T4791A probably damaging Het
Sdk2 A G 11: 113,712,452 (GRCm39) V1609A probably benign Het
Slc16a4 A T 3: 107,218,858 (GRCm39) R486S possibly damaging Het
Slc17a3 T C 13: 24,040,767 (GRCm39) L331P probably damaging Het
Slc38a11 A T 2: 65,184,159 (GRCm39) V164D probably damaging Het
Slc38a6 A G 12: 73,383,827 (GRCm39) I173V probably benign Het
Synpo2 T C 3: 122,873,604 (GRCm39) T1121A probably benign Het
Tfcp2 T C 15: 100,426,302 (GRCm39) D83G possibly damaging Het
Thnsl1 A G 2: 21,216,455 (GRCm39) T70A probably damaging Het
Tnfrsf21 A G 17: 43,398,786 (GRCm39) I631V probably damaging Het
Tor2a C A 2: 32,647,329 (GRCm39) H6Q possibly damaging Het
Ttn T C 2: 76,565,267 (GRCm39) N19993S probably benign Het
Vps53 T C 11: 76,029,150 (GRCm39) E119G probably damaging Het
Zkscan6 T C 11: 65,705,495 (GRCm39) W69R probably damaging Het
Zng1 T C 19: 24,900,002 (GRCm39) K301E probably benign Het
Zswim8 T C 14: 20,764,459 (GRCm39) S610P probably damaging 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
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
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 2016-08-02