Incidental Mutation 'R0531:Sema7a'
ID 49168
Institutional Source Beutler Lab
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
MMRRC Submission 038723-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R0531 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 57847395-57870148 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57867876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 484 (S484N)
Ref Sequence ENSEMBL: ENSMUSP00000042211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043059]
AlphaFold Q9QUR8
Predicted Effect possibly damaging
Transcript: ENSMUST00000043059
AA Change: S484N

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042211
Gene: ENSMUSG00000038264
AA Change: S484N

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
Meta Mutation Damage Score 0.0823 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (69/69)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,892,127 (GRCm39) N130D probably benign Het
Acot6 C A 12: 84,148,075 (GRCm39) D110E probably benign Het
Agrn T A 4: 156,263,891 (GRCm39) N124I probably benign Het
Astn1 G T 1: 158,427,959 (GRCm39) G710V probably damaging Het
Bcar3 T C 3: 122,220,148 (GRCm39) V15A probably benign Het
Best3 T C 10: 116,840,280 (GRCm39) probably benign Het
Bltp1 T A 3: 37,090,974 (GRCm39) I743N probably damaging Het
Cenpa T C 5: 30,829,837 (GRCm39) F39L possibly damaging Het
Cfap44 A T 16: 44,221,789 (GRCm39) M1L probably benign Het
Chrnd A G 1: 87,122,541 (GRCm39) I107M probably damaging Het
Col11a2 A G 17: 34,277,351 (GRCm39) probably benign Het
Dnah10 G A 5: 124,889,787 (GRCm39) probably null Het
Entpd8 A G 2: 24,974,781 (GRCm39) Y404C probably damaging Het
Fam118a T C 15: 84,932,633 (GRCm39) I125T possibly damaging Het
Fam161a G A 11: 22,970,298 (GRCm39) E159K possibly damaging Het
Fkbp5 A T 17: 28,657,003 (GRCm39) H71Q probably benign Het
Frem2 A T 3: 53,427,375 (GRCm39) Y2926N probably damaging Het
Gap43 A T 16: 42,112,691 (GRCm39) D23E probably damaging Het
Glt8d1 T C 14: 30,728,461 (GRCm39) F3S probably benign Het
Gm11555 C T 11: 99,540,844 (GRCm39) probably benign Het
Gtpbp1 G A 15: 79,604,292 (GRCm39) G667S probably damaging Het
H2-T24 A C 17: 36,326,463 (GRCm39) S145R probably benign Het
Inpp5b A T 4: 124,689,249 (GRCm39) N843I probably damaging Het
Jak3 C T 8: 72,139,620 (GRCm39) probably benign Het
Krt8 T A 15: 101,909,883 (GRCm39) M174L probably benign Het
Ktn1 C T 14: 47,901,398 (GRCm39) T52I probably damaging Het
Lrp4 T C 2: 91,305,523 (GRCm39) probably benign Het
Nefh G A 11: 4,890,240 (GRCm39) A793V probably damaging Het
Niban1 T C 1: 151,593,835 (GRCm39) V840A probably benign Het
Notch1 A G 2: 26,356,584 (GRCm39) S1678P probably benign Het
Notch2 C T 3: 98,009,767 (GRCm39) probably benign Het
Nrxn3 T C 12: 88,762,112 (GRCm39) F53S probably damaging Het
Or10d4c A G 9: 39,558,168 (GRCm39) T49A probably benign Het
Or2ab1 A G 11: 58,488,674 (GRCm39) I151V probably benign Het
Or5ac25 T A 16: 59,182,171 (GRCm39) N137Y probably damaging Het
Or6z5 A T 7: 6,477,234 (GRCm39) I42F possibly damaging Het
Or8g17 G T 9: 38,930,472 (GRCm39) R122S probably damaging Het
Or9i16 C T 19: 13,865,116 (GRCm39) V153I possibly damaging Het
Pak4 T A 7: 28,267,479 (GRCm39) I62F possibly damaging Het
Pcdhb12 T A 18: 37,570,371 (GRCm39) F506I probably damaging Het
Per1 A T 11: 68,995,016 (GRCm39) D632V probably damaging Het
Plec A G 15: 76,061,498 (GRCm39) M2678T probably benign Het
Plg A G 17: 12,630,334 (GRCm39) probably benign Het
Prmt1 A T 7: 44,627,048 (GRCm39) S304R probably damaging Het
Prr27 T C 5: 87,990,537 (GRCm39) F50L probably benign Het
Prune2 T C 19: 16,984,117 (GRCm39) L159P probably damaging Het
Ptpn12 A T 5: 21,203,481 (GRCm39) N432K possibly damaging Het
Rfwd3 A G 8: 112,020,621 (GRCm39) probably null Het
Rims2 A T 15: 39,430,426 (GRCm39) D1170V probably damaging Het
Sag T C 1: 87,762,351 (GRCm39) probably null Het
Sall4 C T 2: 168,598,256 (GRCm39) A195T probably benign Het
Sbf2 G A 7: 109,966,530 (GRCm39) probably benign Het
Scaper A T 9: 55,517,158 (GRCm39) D599E possibly damaging Het
Senp1 A G 15: 97,962,761 (GRCm39) probably benign Het
Senp6 A G 9: 80,031,166 (GRCm39) T623A probably damaging Het
Siae A G 9: 37,539,090 (GRCm39) D95G probably benign Het
Slc26a2 T C 18: 61,331,451 (GRCm39) D660G probably damaging Het
Slc3a1 T C 17: 85,336,077 (GRCm39) F73S possibly damaging Het
Slfn5 A T 11: 82,851,866 (GRCm39) Q664L probably damaging Het
Spire1 T C 18: 67,624,375 (GRCm39) I512V probably damaging Het
Srpra A G 9: 35,124,797 (GRCm39) T133A probably benign Het
Stag1 A G 9: 100,836,300 (GRCm39) *175W probably null Het
Stk32c C A 7: 138,700,636 (GRCm39) V316F probably damaging Het
Tekt1 A C 11: 72,236,420 (GRCm39) N347K possibly damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Tnpo2 T A 8: 85,776,786 (GRCm39) C498S probably damaging Het
Tra2b G A 16: 22,065,955 (GRCm39) R281* probably null Het
Ubr5 A T 15: 37,991,588 (GRCm39) I1985N probably benign Het
Ush2a T G 1: 188,175,378 (GRCm39) S1159A probably benign Het
Vmn1r15 C T 6: 57,235,236 (GRCm39) P35S probably benign Het
Vmn1r6 A T 6: 56,979,583 (GRCm39) I60L probably benign Het
Vps8 A G 16: 21,278,561 (GRCm39) probably benign Het
Xkr7 T C 2: 152,874,272 (GRCm39) V113A possibly damaging 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
IGL02203:Sema7a APN 9 57,864,889 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ATCATTGGATGCTGACCGGGTGAG -3'
(R):5'- TGGCTCCGCTGGATTAATGGACTG -3'

Sequencing Primer
(F):5'- TCTGTACCCTTGGGACGAC -3'
(R):5'- TGCAGCACTGATCTAGAATTAGGAG -3'
Posted On 2013-06-12