Incidental Mutation 'R6825:Sema5b'
ID 534128
Institutional Source Beutler Lab
Gene Symbol Sema5b
Ensembl Gene ENSMUSG00000052133
Gene Name sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B
Synonyms SemG, SemG, Semag
MMRRC Submission 044937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6825 (G1)
Quality Score 201.009
Status Validated
Chromosome 16
Chromosomal Location 35361517-35485103 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 35448377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050625] [ENSMUST00000120756]
AlphaFold Q60519
Predicted Effect probably null
Transcript: ENSMUST00000050625
SMART Domains Protein: ENSMUSP00000057494
Gene: ENSMUSG00000052133

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Sema 68 479 1.68e-174 SMART
PSI 497 544 9.18e-12 SMART
TSP1 609 662 3.34e-15 SMART
TSP1 667 713 3.42e-12 SMART
TSP1 798 850 1.58e-16 SMART
TSP1 855 907 2.45e-13 SMART
TSP1 910 957 1.02e-1 SMART
transmembrane domain 977 999 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000120756
SMART Domains Protein: ENSMUSP00000112536
Gene: ENSMUSG00000052133

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Sema 68 479 1.68e-174 SMART
PSI 497 544 9.18e-12 SMART
TSP1 609 662 3.34e-15 SMART
TSP1 667 742 7.61e-10 SMART
TSP1 827 879 1.58e-16 SMART
TSP1 884 936 2.45e-13 SMART
TSP1 939 986 1.02e-1 SMART
transmembrane domain 1006 1028 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133554
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 100% (62/62)
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 protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null mutation display defects in neurite arborization of multiple retinal cell types. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,954,654 (GRCm39) S206T probably benign Het
Aasdh A T 5: 77,036,696 (GRCm39) probably null Het
Adam10 G T 9: 70,668,884 (GRCm39) C400F probably damaging Het
Ankle2 A T 5: 110,398,635 (GRCm39) R561S probably null Het
Arhgef5 C T 6: 43,251,895 (GRCm39) T882I probably damaging Het
Arpc1a A T 5: 145,032,936 (GRCm39) K82* probably null Het
Card11 C A 5: 140,863,837 (GRCm39) R967L probably benign Het
Ccdc82 G T 9: 13,251,601 (GRCm39) probably benign Het
Cebpz T C 17: 79,227,392 (GRCm39) D1026G probably damaging Het
Cit A T 5: 116,119,833 (GRCm39) Q1321L probably damaging Het
Clcn2 C A 16: 20,528,408 (GRCm39) probably benign Het
Csf3 G C 11: 98,593,273 (GRCm39) G130A probably damaging Het
Cul2 T A 18: 3,434,946 (GRCm39) S737T probably damaging Het
Cyp1a2 G A 9: 57,584,543 (GRCm39) H504Y probably benign Het
Cyp3a44 G A 5: 145,716,396 (GRCm39) P398L probably damaging Het
Dnah8 T C 17: 30,960,147 (GRCm39) I2206T probably damaging Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Epb41l5 A T 1: 119,547,931 (GRCm39) D157E possibly damaging Het
Ercc8 T C 13: 108,295,343 (GRCm39) S6P probably damaging Het
Faxc T C 4: 21,931,672 (GRCm39) S37P probably benign Het
Fbxl19 T A 7: 127,349,187 (GRCm39) I119K probably damaging Het
Frmd4b A G 6: 97,302,437 (GRCm39) V195A possibly damaging Het
Fut9 A T 4: 25,619,925 (GRCm39) S296R probably benign Het
Gas6 T C 8: 13,533,674 (GRCm39) N112D probably benign Het
H2-Q1 T C 17: 35,540,028 (GRCm39) L99P probably damaging Het
Helq A T 5: 100,940,561 (GRCm39) I346N probably damaging Het
Hepacam A G 9: 37,278,976 (GRCm39) K2E possibly damaging Het
Itgae T C 11: 73,009,322 (GRCm39) M502T possibly damaging Het
Kmt2a G A 9: 44,729,704 (GRCm39) probably benign Het
Lhx9 ACC ACCC 1: 138,769,544 (GRCm39) probably null Het
Macf1 A T 4: 123,277,015 (GRCm39) probably null Het
Mgat4a T A 1: 37,503,515 (GRCm39) K220* probably null Het
Or2t43 T C 11: 58,457,476 (GRCm39) R232G possibly damaging Het
Or4c104 T C 2: 88,586,255 (GRCm39) I255V possibly damaging Het
Or5b3 G A 19: 13,388,514 (GRCm39) V194I probably benign Het
Pex5 A T 6: 124,391,340 (GRCm39) M18K probably damaging Het
Phlda3 T C 1: 135,694,562 (GRCm39) *126Q probably null Het
Plxna1 G T 6: 89,297,597 (GRCm39) D1862E probably benign Het
Pold4 A T 19: 4,282,164 (GRCm39) I7F possibly damaging Het
Prkaa1 A T 15: 5,173,432 (GRCm39) I19F possibly damaging Het
Prl7d1 T G 13: 27,894,125 (GRCm39) E148A probably benign Het
Prr14l A T 5: 32,985,892 (GRCm39) V1201E possibly damaging Het
Rab3gap1 T C 1: 127,858,158 (GRCm39) C510R probably damaging Het
Rhbdf1 C T 11: 32,159,970 (GRCm39) R802H probably damaging Het
Rpl18a A C 8: 71,348,836 (GRCm39) F47V probably damaging Het
Sspo G A 6: 48,442,459 (GRCm39) G1985R probably benign Het
Tcaf2 C T 6: 42,606,452 (GRCm39) A501T probably benign Het
Tcerg1 A G 18: 42,681,542 (GRCm39) D563G probably damaging Het
Tdh G A 14: 63,733,281 (GRCm39) T155M probably damaging Het
Tenm2 T C 11: 35,937,711 (GRCm39) N1654S probably benign Het
Tlr5 A T 1: 182,800,609 (GRCm39) probably benign Het
Tns1 G T 1: 74,041,482 (GRCm39) C136* probably null Het
Tomm5 A T 4: 45,106,443 (GRCm39) probably null Het
Trio A T 15: 27,889,394 (GRCm39) F512I probably damaging Het
Ttll5 A T 12: 85,930,102 (GRCm39) probably null Het
Upp1 T A 11: 9,081,707 (GRCm39) H81Q probably benign Het
Usp42 A G 5: 143,713,562 (GRCm39) S71P probably damaging Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Zap70 A G 1: 36,817,471 (GRCm39) Y238C probably damaging Het
Zfp398 A G 6: 47,843,265 (GRCm39) D307G probably damaging Het
Other mutations in Sema5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Sema5b APN 16 35,471,685 (GRCm39) missense probably damaging 1.00
IGL01584:Sema5b APN 16 35,465,793 (GRCm39) missense probably damaging 1.00
IGL01859:Sema5b APN 16 35,467,479 (GRCm39) missense possibly damaging 0.94
IGL02195:Sema5b APN 16 35,480,849 (GRCm39) critical splice acceptor site probably null
IGL02346:Sema5b APN 16 35,470,125 (GRCm39) missense probably damaging 1.00
IGL02850:Sema5b APN 16 35,480,885 (GRCm39) missense probably benign 0.01
IGL03277:Sema5b APN 16 35,471,682 (GRCm39) missense probably damaging 0.96
R0101:Sema5b UTSW 16 35,483,472 (GRCm39) splice site probably benign
R0368:Sema5b UTSW 16 35,448,470 (GRCm39) missense probably damaging 1.00
R0426:Sema5b UTSW 16 35,466,725 (GRCm39) missense probably damaging 1.00
R0675:Sema5b UTSW 16 35,480,703 (GRCm39) missense probably benign 0.00
R0905:Sema5b UTSW 16 35,443,001 (GRCm39) missense probably benign 0.33
R1163:Sema5b UTSW 16 35,448,466 (GRCm39) missense probably benign 0.19
R1195:Sema5b UTSW 16 35,472,030 (GRCm39) missense probably null 0.94
R1195:Sema5b UTSW 16 35,472,030 (GRCm39) missense probably null 0.94
R1666:Sema5b UTSW 16 35,478,852 (GRCm39) missense probably benign 0.03
R1706:Sema5b UTSW 16 35,470,125 (GRCm39) missense probably damaging 0.98
R1733:Sema5b UTSW 16 35,466,737 (GRCm39) missense probably damaging 1.00
R1775:Sema5b UTSW 16 35,480,694 (GRCm39) missense probably benign
R2215:Sema5b UTSW 16 35,480,585 (GRCm39) missense probably damaging 1.00
R2844:Sema5b UTSW 16 35,480,301 (GRCm39) missense probably damaging 0.98
R3086:Sema5b UTSW 16 35,443,093 (GRCm39) missense probably benign
R3613:Sema5b UTSW 16 35,480,520 (GRCm39) missense probably benign
R4774:Sema5b UTSW 16 35,483,552 (GRCm39) missense probably damaging 1.00
R5743:Sema5b UTSW 16 35,478,846 (GRCm39) missense probably damaging 1.00
R5856:Sema5b UTSW 16 35,466,756 (GRCm39) nonsense probably null
R5993:Sema5b UTSW 16 35,466,572 (GRCm39) missense probably damaging 1.00
R6248:Sema5b UTSW 16 35,448,377 (GRCm39) splice site probably null
R6420:Sema5b UTSW 16 35,483,516 (GRCm39) missense probably benign 0.08
R6795:Sema5b UTSW 16 35,478,941 (GRCm39) nonsense probably null
R7066:Sema5b UTSW 16 35,471,682 (GRCm39) missense probably benign 0.26
R7244:Sema5b UTSW 16 35,480,915 (GRCm39) missense probably benign
R7446:Sema5b UTSW 16 35,467,573 (GRCm39) missense probably damaging 1.00
R7497:Sema5b UTSW 16 35,481,700 (GRCm39) missense probably damaging 1.00
R7516:Sema5b UTSW 16 35,471,540 (GRCm39) missense probably benign 0.05
R7878:Sema5b UTSW 16 35,481,996 (GRCm39) missense probably benign 0.00
R7922:Sema5b UTSW 16 35,478,626 (GRCm39) frame shift probably null
R8397:Sema5b UTSW 16 35,471,691 (GRCm39) missense possibly damaging 0.59
R8537:Sema5b UTSW 16 35,471,979 (GRCm39) missense possibly damaging 0.49
R8929:Sema5b UTSW 16 35,467,737 (GRCm39) intron probably benign
R9262:Sema5b UTSW 16 35,453,223 (GRCm39) missense possibly damaging 0.57
R9389:Sema5b UTSW 16 35,466,092 (GRCm39) missense probably damaging 1.00
R9579:Sema5b UTSW 16 35,467,582 (GRCm39) missense probably benign 0.01
R9623:Sema5b UTSW 16 35,443,121 (GRCm39) missense possibly damaging 0.74
Z1088:Sema5b UTSW 16 35,480,960 (GRCm39) missense probably damaging 0.99
Z1176:Sema5b UTSW 16 35,470,234 (GRCm39) missense probably benign 0.01
Z1176:Sema5b UTSW 16 35,466,643 (GRCm39) missense probably benign 0.05
Z1176:Sema5b UTSW 16 35,448,388 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACTCTAATCCCTGAGGTCAGAAG -3'
(R):5'- TACAGACAGGGCCTGGTATG -3'

Sequencing Primer
(F):5'- TCAGAAGGCTGGCTGCTCAC -3'
(R):5'- CTCGAGATCAGTGTGGATACTCATC -3'
Posted On 2018-09-12