Incidental Mutation 'IGL02203:Sema7a'
ID 284405
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema7a
Ensembl Gene ENSMUSG00000038264
Gene Name sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A
Synonyms Semal, Semaphorin K1, CDw108, 2900057C09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # IGL02203
Quality Score
Status
Chromosome 9
Chromosomal Location 57847395-57870148 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57864889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 397 (T397A)
Ref Sequence ENSEMBL: ENSMUSP00000042211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043059] [ENSMUST00000214314]
AlphaFold Q9QUR8
Predicted Effect probably benign
Transcript: ENSMUST00000043059
AA Change: T397A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042211
Gene: ENSMUSG00000038264
AA Change: T397A

DomainStartEndE-ValueType
signal peptide 1 44 N/A INTRINSIC
Sema 72 472 4.11e-119 SMART
PSI 490 540 7.64e-9 SMART
IG 549 630 3.63e-1 SMART
transmembrane domain 644 663 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000214314
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: The development of the olfactory tract is impaired in homozygous null mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A C 3: 121,973,457 (GRCm39) D1095A probably benign Het
Acmsd T C 1: 127,666,342 (GRCm39) probably benign Het
Ap5m1 G A 14: 49,317,715 (GRCm39) G324D probably damaging Het
Api5 T G 2: 94,255,419 (GRCm39) N252T probably benign Het
Arhgap45 T A 10: 79,863,387 (GRCm39) C743* probably null Het
Clpb A G 7: 101,428,544 (GRCm39) T435A probably damaging Het
Csmd3 C T 15: 47,713,073 (GRCm39) probably null Het
Cyp3a11 T G 5: 145,805,976 (GRCm39) R130S probably damaging Het
Dennd4c A G 4: 86,721,173 (GRCm39) T612A probably benign Het
Dipk1a A G 5: 108,059,647 (GRCm39) L57S probably benign Het
Eng A G 2: 32,561,498 (GRCm39) I170V probably benign Het
Gfra2 T A 14: 71,204,524 (GRCm39) M74K possibly damaging Het
Gpr137c A G 14: 45,514,944 (GRCm39) T268A possibly damaging Het
Gramd2b T C 18: 56,612,026 (GRCm39) probably null Het
Il13ra2 A G X: 146,166,669 (GRCm39) L367P possibly damaging Het
Insr T C 8: 3,205,817 (GRCm39) H1324R probably benign Het
Lgi3 A G 14: 70,771,958 (GRCm39) E215G possibly damaging Het
Mst1r A G 9: 107,790,348 (GRCm39) T654A possibly damaging Het
Mst1r A G 9: 107,785,068 (GRCm39) Y242C probably damaging Het
Myo16 A T 8: 10,620,132 (GRCm39) Q1561L possibly damaging Het
Obscn A C 11: 58,973,134 (GRCm39) M2222R probably damaging Het
Or10ak13 A T 4: 118,639,626 (GRCm39) V52D possibly damaging Het
Or13p10 A T 4: 118,523,379 (GRCm39) I222F probably benign Het
Or2ag1 A G 7: 106,313,837 (GRCm39) I17T probably benign Het
Or5ap2 T G 2: 85,680,432 (GRCm39) F212C probably damaging Het
Or8b50 A G 9: 38,518,719 (GRCm39) probably benign Het
Plch1 G A 3: 63,606,160 (GRCm39) P1239L possibly damaging Het
Ptprm A T 17: 67,260,118 (GRCm39) I499K probably damaging Het
Rabep2 G T 7: 126,039,566 (GRCm39) R331L possibly damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sftpc A C 14: 70,759,309 (GRCm39) M124R probably damaging Het
Slc25a38 A G 9: 119,949,878 (GRCm39) Y198C probably damaging Het
Sppl2a A T 2: 126,746,861 (GRCm39) M489K possibly damaging Het
Swt1 T A 1: 151,246,377 (GRCm39) K849N probably benign Het
Ttc3 T A 16: 94,219,457 (GRCm39) probably benign Het
Vmn2r63 A G 7: 42,553,432 (GRCm39) V608A probably benign Het
Vwf A G 6: 125,619,369 (GRCm39) Y1349C probably damaging Het
Ybx3 A G 6: 131,345,371 (GRCm39) V265A probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Sema7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Sema7a APN 9 57,863,121 (GRCm39) missense probably damaging 1.00
IGL01967:Sema7a APN 9 57,863,678 (GRCm39) missense probably damaging 1.00
IGL02030:Sema7a APN 9 57,862,423 (GRCm39) missense possibly damaging 0.91
IGL02031:Sema7a APN 9 57,862,423 (GRCm39) missense possibly damaging 0.91
IGL02115:Sema7a APN 9 57,868,183 (GRCm39) missense probably damaging 1.00
IGL02808:Sema7a APN 9 57,867,631 (GRCm39) missense probably benign 0.25
G1citation:Sema7a UTSW 9 57,867,619 (GRCm39) missense probably damaging 1.00
R0531:Sema7a UTSW 9 57,867,876 (GRCm39) missense possibly damaging 0.95
R1603:Sema7a UTSW 9 57,867,959 (GRCm39) missense probably benign 0.18
R1845:Sema7a UTSW 9 57,862,182 (GRCm39) missense possibly damaging 0.65
R4598:Sema7a UTSW 9 57,860,834 (GRCm39) missense probably benign 0.04
R4903:Sema7a UTSW 9 57,862,378 (GRCm39) missense probably benign 0.00
R4954:Sema7a UTSW 9 57,863,663 (GRCm39) missense probably damaging 1.00
R5172:Sema7a UTSW 9 57,864,961 (GRCm39) missense probably benign 0.02
R5514:Sema7a UTSW 9 57,863,046 (GRCm39) missense probably damaging 1.00
R5618:Sema7a UTSW 9 57,867,566 (GRCm39) missense possibly damaging 0.71
R5652:Sema7a UTSW 9 57,867,942 (GRCm39) missense probably damaging 1.00
R5793:Sema7a UTSW 9 57,867,540 (GRCm39) missense probably damaging 0.98
R6365:Sema7a UTSW 9 57,862,188 (GRCm39) missense probably benign 0.31
R6736:Sema7a UTSW 9 57,867,854 (GRCm39) missense probably damaging 1.00
R6822:Sema7a UTSW 9 57,867,619 (GRCm39) missense probably damaging 1.00
R6829:Sema7a UTSW 9 57,868,181 (GRCm39) missense probably benign 0.00
R7380:Sema7a UTSW 9 57,868,847 (GRCm39) missense unknown
R7381:Sema7a UTSW 9 57,860,852 (GRCm39) missense probably benign 0.00
R7467:Sema7a UTSW 9 57,868,705 (GRCm39) missense probably damaging 1.00
R7593:Sema7a UTSW 9 57,867,858 (GRCm39) missense probably benign 0.06
R7601:Sema7a UTSW 9 57,847,560 (GRCm39) missense probably benign 0.14
R7879:Sema7a UTSW 9 57,862,363 (GRCm39) missense probably damaging 1.00
R8360:Sema7a UTSW 9 57,862,974 (GRCm39) unclassified probably benign
R9236:Sema7a UTSW 9 57,862,408 (GRCm39) missense probably damaging 1.00
R9467:Sema7a UTSW 9 57,864,608 (GRCm39) missense probably damaging 1.00
R9475:Sema7a UTSW 9 57,862,188 (GRCm39) missense probably benign 0.31
Posted On 2015-04-16