Incidental Mutation 'IGL00324:Sema6b'
ID 3829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema6b
Ensembl Gene ENSMUSG00000001227
Gene Name sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B
Synonyms semaZ, Seman, VIb, Sema
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL00324
Quality Score
Status
Chromosome 17
Chromosomal Location 56430085-56447343 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56437048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 204 (D204N)
Ref Sequence ENSEMBL: ENSMUSP00000130985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001256] [ENSMUST00000167545]
AlphaFold O54951
Predicted Effect probably damaging
Transcript: ENSMUST00000001256
AA Change: D204N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227
AA Change: D204N

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 damaging
Transcript: ENSMUST00000167545
AA Change: D204N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227
AA Change: D204N

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
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, 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 T C 3: 121,570,642 (GRCm39) probably benign Het
Cdk12 T A 11: 98,136,214 (GRCm39) L1156Q unknown Het
Ctsl T C 13: 64,515,982 (GRCm39) Y66C probably damaging Het
Esd C T 14: 74,973,467 (GRCm39) H21Y probably damaging Het
Fcrlb A C 1: 170,736,393 (GRCm39) Y128D possibly damaging Het
Gm17027 A T 14: 41,981,267 (GRCm39) N196K unknown Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Hpcal1 A G 12: 17,841,146 (GRCm39) S175G probably benign Het
Itgam A T 7: 127,684,833 (GRCm39) D401V probably damaging Het
Kank1 A G 19: 25,389,122 (GRCm39) T932A probably benign Het
Lmod1 A G 1: 135,292,216 (GRCm39) K357R probably benign Het
Muc4 A G 16: 32,599,186 (GRCm39) I3271V probably benign Het
Nlrc5 A G 8: 95,248,107 (GRCm39) K1692E probably damaging Het
Ocln A G 13: 100,671,521 (GRCm39) W279R probably damaging Het
Or4p20 T C 2: 88,254,130 (GRCm39) I80V probably benign Het
Pcsk1 A G 13: 75,280,206 (GRCm39) K677R probably benign Het
Pitrm1 T A 13: 6,618,702 (GRCm39) L586Q probably damaging Het
Plppr3 G A 10: 79,702,503 (GRCm39) S217L probably damaging Het
Pnldc1 A T 17: 13,124,645 (GRCm39) probably benign Het
Pramel12 T A 4: 143,143,237 (GRCm39) M1K probably null Het
Pramel13 A G 4: 144,121,310 (GRCm39) L238P possibly damaging Het
Slc12a5 A G 2: 164,839,041 (GRCm39) N1063S probably damaging Het
Tg T C 15: 66,565,273 (GRCm39) V1205A probably benign Het
Tmem260 T C 14: 48,724,336 (GRCm39) F205L probably benign Het
Trappc11 A T 8: 47,956,337 (GRCm39) probably benign Het
Tsen34 A G 7: 3,703,530 (GRCm39) *296W probably null Het
Ubr2 A G 17: 47,296,986 (GRCm39) probably benign Het
Vmn2r23 T A 6: 123,706,684 (GRCm39) W505R possibly damaging Het
Wbp11 A G 6: 136,798,668 (GRCm39) probably benign Het
Znfx1 A T 2: 166,878,649 (GRCm39) M1909K possibly damaging Het
Other mutations in Sema6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6317:Sema6b UTSW 17 56,431,047 (GRCm39) missense probably benign 0.26
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
Posted On 2012-04-20