Incidental Mutation 'R6317:Sema6b'
ID 510059
Institutional Source Beutler Lab
Gene Symbol Sema6b
Ensembl Gene ENSMUSG00000001227
Gene Name sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B
Synonyms semaZ, Seman, VIb, Sema
MMRRC Submission 044417-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R6317 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 56430085-56447343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56431047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 872 (L872S)
Ref Sequence ENSEMBL: ENSMUSP00000130985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001256] [ENSMUST00000041357] [ENSMUST00000167545]
AlphaFold O54951
Predicted Effect probably benign
Transcript: ENSMUST00000001256
AA Change: L872S

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227
AA Change: L872S

DomainStartEndE-ValueType
low complexity region 13 21 N/A INTRINSIC
Sema 66 496 2.48e-177 SMART
PSI 527 581 4.09e-1 SMART
transmembrane domain 604 626 N/A INTRINSIC
low complexity region 655 685 N/A INTRINSIC
low complexity region 707 718 N/A INTRINSIC
low complexity region 739 760 N/A INTRINSIC
low complexity region 855 866 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000041357
SMART Domains Protein: ENSMUSP00000038048
Gene: ENSMUSG00000037095

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
LRR 84 107 1.86e0 SMART
LRR_TYP 108 131 3.63e-3 SMART
LRR 133 155 5.89e1 SMART
LRR_TYP 156 179 1.45e-2 SMART
LRR_TYP 180 203 8.47e-4 SMART
LRR 205 227 2.08e1 SMART
LRR 229 251 1.91e1 SMART
LRR 252 275 5.34e-1 SMART
LRRCT 292 342 9.69e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167545
AA Change: L872S

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227
AA Change: L872S

DomainStartEndE-ValueType
low complexity region 13 21 N/A INTRINSIC
Sema 66 496 2.48e-177 SMART
PSI 527 581 4.09e-1 SMART
transmembrane domain 604 626 N/A INTRINSIC
low complexity region 655 685 N/A INTRINSIC
low complexity region 707 718 N/A INTRINSIC
low complexity region 739 760 N/A INTRINSIC
low complexity region 855 866 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
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 family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal mossy fiber and mossy cell axon projections, thickened suprapyramidal bundles, and elongated infrapyramydal bundles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik T C 18: 70,601,264 (GRCm39) N206S probably damaging Het
Abcf2 A T 5: 24,774,156 (GRCm39) Y315* probably null Het
Adck1 T G 12: 88,368,921 (GRCm39) V133G probably damaging Het
Aoc2 T C 11: 101,216,292 (GRCm39) F125S probably damaging Het
As3mt A G 19: 46,713,410 (GRCm39) D319G probably benign Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Baz1a T C 12: 55,001,585 (GRCm39) Q145R possibly damaging Het
Bhlhe22 A G 3: 18,109,778 (GRCm39) E276G probably damaging Het
Cdo1 C A 18: 46,861,104 (GRCm39) V36L probably benign Het
Ces1h A G 8: 94,084,046 (GRCm39) F388S unknown Het
Col6a5 T A 9: 105,766,266 (GRCm39) N1885Y probably damaging Het
Corin A T 5: 72,496,388 (GRCm39) C522S probably damaging Het
Csmd1 G T 8: 16,760,658 (GRCm39) T159K possibly damaging Het
Cspg4b T A 13: 113,504,802 (GRCm39) L1977H probably benign Het
Cwc27 T A 13: 104,940,769 (GRCm39) K197* probably null Het
Cyp20a1 T C 1: 60,391,283 (GRCm39) S26P probably damaging Het
Daxx T A 17: 34,130,949 (GRCm39) D321E probably damaging Het
Gria2 A C 3: 80,648,311 (GRCm39) Y142D possibly damaging Het
Gspt1 T C 16: 11,041,072 (GRCm39) probably null Het
Ighv1-80 A T 12: 115,876,265 (GRCm39) V17D probably damaging Het
Ints4 T A 7: 97,178,425 (GRCm39) L675* probably null Het
Kif13a C T 13: 46,980,233 (GRCm39) R173Q probably damaging Het
Map3k2 T C 18: 32,336,086 (GRCm39) I91T probably damaging Het
Map3k8 A G 18: 4,348,979 (GRCm39) probably null Het
Mcemp1 G A 8: 3,717,284 (GRCm39) W101* probably null Het
Naca T C 10: 127,879,993 (GRCm39) I1675T probably benign Het
Nol9 T C 4: 152,125,514 (GRCm39) F155S probably damaging Het
Obscn C A 11: 58,960,721 (GRCm39) D3406Y probably damaging Het
Obsl1 A G 1: 75,466,273 (GRCm39) V1485A possibly damaging Het
Oga A T 19: 45,760,119 (GRCm39) probably null Het
Or8a1 T C 9: 37,641,725 (GRCm39) K185E possibly damaging Het
Otog C A 7: 45,950,639 (GRCm39) P337H probably damaging Het
Patl1 T C 19: 11,898,242 (GRCm39) L140P probably damaging Het
Pcca G A 14: 122,820,035 (GRCm39) V60M probably damaging Het
Pex11g G T 8: 3,514,092 (GRCm39) D23E probably damaging Het
Phactr2 A T 10: 13,137,626 (GRCm39) M172K probably damaging Het
Plce1 G A 19: 38,512,974 (GRCm39) W91* probably null Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Podn A G 4: 107,884,357 (GRCm39) F44S probably damaging Het
Polr3e A G 7: 120,527,205 (GRCm39) D87G possibly damaging Het
Prmt2 T A 10: 76,058,351 (GRCm39) I153F probably benign Het
Prpf6 T C 2: 181,273,229 (GRCm39) V258A probably benign Het
Ptpn21 G T 12: 98,655,521 (GRCm39) A482E probably damaging Het
Qrich1 A T 9: 108,411,491 (GRCm39) N339Y probably damaging Het
Rabgap1 T A 2: 37,432,659 (GRCm39) V750D possibly damaging Het
Reg3d G A 6: 78,354,428 (GRCm39) P58S probably damaging Het
Rp1 A G 1: 4,112,212 (GRCm39) L1213P unknown Het
Serpinb7 T C 1: 107,379,436 (GRCm39) I281T probably damaging Het
Shank2 T C 7: 143,838,821 (GRCm39) V685A possibly damaging Het
Slc28a2 A G 2: 122,284,980 (GRCm39) I323V possibly damaging Het
Slc7a6 A T 8: 106,919,099 (GRCm39) I228F probably damaging Het
Slc9a9 A G 9: 94,821,512 (GRCm39) T300A possibly damaging Het
Spta1 A G 1: 174,068,653 (GRCm39) N2151S probably damaging Het
Sult2a1 T A 7: 13,569,945 (GRCm39) I96L probably benign Het
Tgm2 T C 2: 157,966,070 (GRCm39) D528G probably benign Het
Ubl7 T C 9: 57,818,456 (GRCm39) probably null Het
Vcan T A 13: 89,839,716 (GRCm39) I983L probably benign Het
Vmn1r172 T C 7: 23,359,742 (GRCm39) L209P probably damaging Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign Het
Vmn1r3 T C 4: 3,184,993 (GRCm39) S105G probably benign Het
Zfp644 A T 5: 106,783,711 (GRCm39) H945Q probably damaging Het
Other mutations in Sema6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Sema6b APN 17 56,437,048 (GRCm39) missense probably damaging 1.00
IGL01102:Sema6b APN 17 56,439,761 (GRCm39) missense possibly damaging 0.91
IGL01533:Sema6b APN 17 56,436,499 (GRCm39) splice site probably benign
IGL01611:Sema6b APN 17 56,436,969 (GRCm39) splice site probably null
IGL01996:Sema6b APN 17 56,438,157 (GRCm39) missense probably damaging 1.00
IGL02118:Sema6b APN 17 56,439,821 (GRCm39) missense probably benign
R0010:Sema6b UTSW 17 56,431,105 (GRCm39) missense probably benign 0.06
R0066:Sema6b UTSW 17 56,435,271 (GRCm39) missense possibly damaging 0.83
R0066:Sema6b UTSW 17 56,435,271 (GRCm39) missense possibly damaging 0.83
R0525:Sema6b UTSW 17 56,433,630 (GRCm39) missense probably damaging 0.96
R0635:Sema6b UTSW 17 56,436,971 (GRCm39) critical splice donor site probably null
R1129:Sema6b UTSW 17 56,431,347 (GRCm39) missense probably benign
R1927:Sema6b UTSW 17 56,439,797 (GRCm39) missense probably benign 0.00
R2211:Sema6b UTSW 17 56,431,741 (GRCm39) missense probably benign 0.00
R4081:Sema6b UTSW 17 56,435,307 (GRCm39) missense probably damaging 0.99
R5013:Sema6b UTSW 17 56,439,497 (GRCm39) critical splice donor site probably null
R5296:Sema6b UTSW 17 56,434,091 (GRCm39) critical splice acceptor site probably null
R5314:Sema6b UTSW 17 56,435,413 (GRCm39) nonsense probably null
R6419:Sema6b UTSW 17 56,439,784 (GRCm39) nonsense probably null
R7255:Sema6b UTSW 17 56,432,336 (GRCm39) missense probably benign 0.01
R7289:Sema6b UTSW 17 56,432,573 (GRCm39) missense possibly damaging 0.77
R7805:Sema6b UTSW 17 56,438,555 (GRCm39) missense probably damaging 1.00
R8157:Sema6b UTSW 17 56,435,448 (GRCm39) missense probably damaging 1.00
R8290:Sema6b UTSW 17 56,431,803 (GRCm39) missense possibly damaging 0.93
R8305:Sema6b UTSW 17 56,434,084 (GRCm39) missense probably damaging 1.00
R9502:Sema6b UTSW 17 56,439,500 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- GGCTTCGTGTCCTGCATC -3'
(R):5'- CCCTTGGACCCTTCGGTG -3'

Sequencing Primer
(F):5'- TGCTTCCCTGTGGCGAG -3'
(R):5'- CCCTTCGGTGGGCGACG -3'
Posted On 2018-04-02