Incidental Mutation 'IGL01611:Sema6b'
ID92129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema6b
Ensembl Gene ENSMUSG00000001227
Gene Namesema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B
SynonymsSema, Seman, semaZ, VIb
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #IGL01611
Quality Score
Status
Chromosome17
Chromosomal Location56123085-56140343 bp(-) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) T to C at 56129969 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001256] [ENSMUST00000167545]
Predicted Effect probably null
Transcript: ENSMUST00000001256
SMART Domains Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227

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 null
Transcript: ENSMUST00000167545
SMART Domains Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,907,870 L209S possibly damaging Het
Abcc2 G T 19: 43,826,629 V1152F probably damaging Het
Adam9 C T 8: 24,967,196 V639I probably benign Het
Cdc6 A G 11: 98,915,163 I388V probably benign Het
Chrm5 C T 2: 112,480,306 W155* probably null Het
Chrna9 A G 5: 65,970,944 D161G probably damaging Het
Det1 A G 7: 78,827,954 V541A possibly damaging Het
Efhc1 G T 1: 20,990,687 *649L probably null Het
Ehbp1 C T 11: 22,172,883 V146M probably damaging Het
Enam A C 5: 88,503,749 D1039A probably damaging Het
Fam20b A T 1: 156,702,465 V133E probably benign Het
Frem2 T A 3: 53,655,709 Q459L probably benign Het
Gapdhs C T 7: 30,730,441 probably benign Het
Gm3404 T A 5: 146,528,347 V299D possibly damaging Het
Gorasp2 C A 2: 70,689,260 H310N possibly damaging Het
Gpr157 T C 4: 150,101,637 S219P possibly damaging Het
Gpt2 T A 8: 85,519,538 C375* probably null Het
Gtf2h3 T C 5: 124,595,685 S274P probably damaging Het
Hmg20b C T 10: 81,347,475 V83M probably benign Het
Igf2r G T 17: 12,725,415 Y400* probably null Het
Ipo9 A T 1: 135,386,693 W942R possibly damaging Het
Iqch T C 9: 63,496,237 probably null Het
Kcnh3 T C 15: 99,229,502 L393P probably benign Het
Kcnk12 T A 17: 87,797,067 I130L probably benign Het
Lcorl T C 5: 45,747,092 T205A probably damaging Het
Lpar6 G T 14: 73,239,438 A280S probably damaging Het
Mgarp A T 3: 51,389,149 V152E probably damaging Het
Pard3b A G 1: 62,637,862 D1184G probably damaging Het
Pcnt A G 10: 76,436,424 probably null Het
Pde6b A G 5: 108,403,396 N182S possibly damaging Het
Pom121 T C 5: 135,383,672 K516E unknown Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptpn18 T C 1: 34,459,817 probably benign Het
Rapgef5 C T 12: 117,753,419 probably benign Het
Ryr2 A G 13: 11,591,316 L4460S possibly damaging Het
Serpinb6d T A 13: 33,666,392 C67* probably null Het
Sorbs2 T G 8: 45,795,344 V510G probably null Het
Spic T A 10: 88,676,002 I131F possibly damaging Het
Spire2 T C 8: 123,359,398 S290P probably damaging Het
Tas2r117 C T 6: 132,803,484 S195F probably benign Het
Tas2r117 T C 6: 132,803,487 V196A probably damaging Het
Tff1 C T 17: 31,162,729 G58D probably damaging Het
Tmprss11g T C 5: 86,490,781 T283A probably benign Het
Toporsl T A 4: 52,610,794 L229H probably damaging Het
Vmn2r80 G A 10: 79,171,654 G488D probably damaging Het
Vps54 T A 11: 21,311,082 V583D probably damaging Het
Vwa1 T C 4: 155,770,798 E286G possibly damaging Het
Vwde A T 6: 13,219,978 I58N probably damaging Het
Zbtb11 T C 16: 55,980,610 V109A probably damaging Het
Zfp319 C T 8: 95,328,912 R221Q probably benign Het
Other mutations in Sema6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Sema6b APN 17 56130048 missense probably damaging 1.00
IGL01102:Sema6b APN 17 56132761 missense possibly damaging 0.91
IGL01533:Sema6b APN 17 56129499 splice site probably benign
IGL01996:Sema6b APN 17 56131157 missense probably damaging 1.00
IGL02118:Sema6b APN 17 56132821 missense probably benign
R0010:Sema6b UTSW 17 56124105 missense probably benign 0.06
R0066:Sema6b UTSW 17 56128271 missense possibly damaging 0.83
R0066:Sema6b UTSW 17 56128271 missense possibly damaging 0.83
R0525:Sema6b UTSW 17 56126630 missense probably damaging 0.96
R0635:Sema6b UTSW 17 56129971 critical splice donor site probably null
R1129:Sema6b UTSW 17 56124347 missense probably benign
R1927:Sema6b UTSW 17 56132797 missense probably benign 0.00
R2211:Sema6b UTSW 17 56124741 missense probably benign 0.00
R4081:Sema6b UTSW 17 56128307 missense probably damaging 0.99
R5013:Sema6b UTSW 17 56132497 critical splice donor site probably null
R5296:Sema6b UTSW 17 56127091 critical splice acceptor site probably null
R5314:Sema6b UTSW 17 56128413 nonsense probably null
R6317:Sema6b UTSW 17 56124047 missense probably benign 0.26
R6419:Sema6b UTSW 17 56132784 nonsense probably null
R7255:Sema6b UTSW 17 56125336 missense probably benign 0.01
R7289:Sema6b UTSW 17 56125573 missense possibly damaging 0.77
R7805:Sema6b UTSW 17 56131555 missense probably damaging 1.00
Posted On2013-12-09