Incidental Mutation 'R6419:Sema6b'
ID 518037
Institutional Source Beutler Lab
Gene Symbol Sema6b
Ensembl Gene ENSMUSG00000001227
Gene Name sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B
Synonyms Sema, Seman, semaZ, VIb
MMRRC Submission 044561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R6419 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56123085-56140343 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 56132784 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 19 (L19*)
Ref Sequence ENSEMBL: ENSMUSP00000130985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001256] [ENSMUST00000167545]
AlphaFold O54951
Predicted Effect probably null
Transcript: ENSMUST00000001256
AA Change: L19*
SMART Domains Protein: ENSMUSP00000001256
Gene: ENSMUSG00000001227
AA Change: L19*

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
AA Change: L19*
SMART Domains Protein: ENSMUSP00000130985
Gene: ENSMUSG00000001227
AA Change: L19*

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 96% (67/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578G10Rik T C 4: 42,812,473 (GRCm38) probably benign Het
Abcc2 T A 19: 43,837,508 (GRCm38) probably null Het
Adamts12 C T 15: 11,215,673 (GRCm38) T260M possibly damaging Het
Adamts20 C T 15: 94,333,675 (GRCm38) V878I possibly damaging Het
Adgrl4 A G 3: 151,439,316 (GRCm38) E34G probably damaging Het
Asah1 A T 8: 41,343,766 (GRCm38) I293N probably damaging Het
B3galt2 A T 1: 143,647,101 (GRCm38) E325V possibly damaging Het
Baz1b T A 5: 135,242,494 (GRCm38) H1310Q probably benign Het
Ccdc125 T A 13: 100,690,326 (GRCm38) N204K probably damaging Het
Cd36 C T 5: 17,797,152 (GRCm38) D284N probably benign Het
Cdh12 T C 15: 21,520,397 (GRCm38) L316S probably damaging Het
Cenpv T C 11: 62,525,182 (GRCm38) K247R probably benign Het
Cldn18 T C 9: 99,692,748 (GRCm38) H257R possibly damaging Het
Cnot8 T A 11: 58,114,065 (GRCm38) Y197N probably damaging Het
Cog3 A T 14: 75,724,738 (GRCm38) C554* probably null Het
Col4a4 A G 1: 82,466,486 (GRCm38) probably null Het
Cops5 G A 1: 10,033,307 (GRCm38) T158I probably damaging Het
Dhh A G 15: 98,894,401 (GRCm38) F242S probably damaging Het
Dot1l T C 10: 80,791,481 (GRCm38) V1512A possibly damaging Het
Dstn T G 2: 143,939,987 (GRCm38) I116S possibly damaging Het
Egfem1 G A 3: 29,657,249 (GRCm38) D326N probably damaging Het
Enpp3 A T 10: 24,808,191 (GRCm38) Y52N probably damaging Het
Fam214a G A 9: 75,009,337 (GRCm38) S413N probably benign Het
Gabra2 A G 5: 70,962,083 (GRCm38) S359P probably benign Het
Gbp7 G A 3: 142,546,453 (GRCm38) G599E probably benign Het
Gcat T G 15: 79,036,064 (GRCm38) I198S probably damaging Het
Gm8439 A G 4: 120,609,558 (GRCm38) K82R unknown Het
Grin2b A G 6: 135,740,967 (GRCm38) F709S probably damaging Het
Grm3 T C 5: 9,570,201 (GRCm38) N348D probably damaging Het
Hdgfl1 G A 13: 26,770,092 (GRCm38) probably benign Het
Hmgxb3 G T 18: 61,152,224 (GRCm38) D564E possibly damaging Het
Igkv4-61 C A 6: 69,417,154 (GRCm38) A31S possibly damaging Het
Impg1 A G 9: 80,380,018 (GRCm38) V305A probably benign Het
Ints7 T A 1: 191,602,302 (GRCm38) S313T possibly damaging Het
Knl1 T A 2: 119,069,003 (GRCm38) I395K probably benign Het
Lactb2 A T 1: 13,638,235 (GRCm38) Y196* probably null Het
Lad1 T C 1: 135,831,892 (GRCm38) S509P possibly damaging Het
Ltf T C 9: 111,031,022 (GRCm38) F504L possibly damaging Het
Med4 A T 14: 73,513,923 (GRCm38) D104V probably damaging Het
Mrpl58 A T 11: 115,410,247 (GRCm38) N128Y probably damaging Het
Ndufs2 T C 1: 171,241,099 (GRCm38) T54A probably benign Het
Notch2 G T 3: 98,100,389 (GRCm38) probably null Het
Ntng1 A T 3: 109,782,853 (GRCm38) N424K possibly damaging Het
Ntrk2 G A 13: 58,861,299 (GRCm38) W301* probably null Het
Olfr1471 T A 19: 13,445,767 (GRCm38) S252T probably benign Het
Otud6b A G 4: 14,822,766 (GRCm38) S113P possibly damaging Het
Papd7 A C 13: 69,510,666 (GRCm38) M350R possibly damaging Het
Pcdhb20 A G 18: 37,505,555 (GRCm38) N378S probably damaging Het
Polr3b T C 10: 84,638,111 (GRCm38) S185P possibly damaging Het
Ptprn G A 1: 75,264,037 (GRCm38) R31C probably benign Het
Rgsl1 C T 1: 153,822,371 (GRCm38) V478M probably damaging Het
Slfn8 A G 11: 83,004,055 (GRCm38) probably null Het
Spen A T 4: 141,476,310 (GRCm38) S1669T unknown Het
Syne2 T C 12: 76,096,966 (GRCm38) F1522L probably damaging Het
Tarbp1 C T 8: 126,459,044 (GRCm38) A470T possibly damaging Het
Tiam1 C A 16: 89,898,024 (GRCm38) E182* probably null Het
Tmem231 G A 8: 111,926,892 (GRCm38) probably benign Het
Trip12 C T 1: 84,793,870 (GRCm38) A186T probably damaging Het
Ufc1 C T 1: 171,288,956 (GRCm38) A147T probably damaging Het
Vmn1r199 A G 13: 22,383,607 (GRCm38) K314R possibly damaging Het
Vmn2r13 A T 5: 109,175,219 (GRCm38) I68K possibly damaging Het
Vmn2r77 A T 7: 86,811,559 (GRCm38) I698F probably damaging Het
Vmn2r86 T C 10: 130,446,926 (GRCm38) K607R probably damaging Het
Vwa3b T C 1: 37,157,376 (GRCm38) V28A probably benign Het
Wdr19 A G 5: 65,215,893 (GRCm38) N166S possibly damaging Het
Wfdc17 G A 11: 83,704,808 (GRCm38) G33R probably damaging Het
Zfp330 T G 8: 82,764,916 (GRCm38) K209N probably benign Het
Zfp493 A G 13: 67,786,407 (GRCm38) T160A probably benign Het
Zfp974 A T 7: 27,911,515 (GRCm38) C262S possibly damaging Het
Other mutations in Sema6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Sema6b APN 17 56,130,048 (GRCm38) missense probably damaging 1.00
IGL01102:Sema6b APN 17 56,132,761 (GRCm38) missense possibly damaging 0.91
IGL01533:Sema6b APN 17 56,129,499 (GRCm38) splice site probably benign
IGL01611:Sema6b APN 17 56,129,969 (GRCm38) splice site probably null
IGL01996:Sema6b APN 17 56,131,157 (GRCm38) missense probably damaging 1.00
IGL02118:Sema6b APN 17 56,132,821 (GRCm38) missense probably benign
R0010:Sema6b UTSW 17 56,124,105 (GRCm38) missense probably benign 0.06
R0066:Sema6b UTSW 17 56,128,271 (GRCm38) missense possibly damaging 0.83
R0066:Sema6b UTSW 17 56,128,271 (GRCm38) missense possibly damaging 0.83
R0525:Sema6b UTSW 17 56,126,630 (GRCm38) missense probably damaging 0.96
R0635:Sema6b UTSW 17 56,129,971 (GRCm38) critical splice donor site probably null
R1129:Sema6b UTSW 17 56,124,347 (GRCm38) missense probably benign
R1927:Sema6b UTSW 17 56,132,797 (GRCm38) missense probably benign 0.00
R2211:Sema6b UTSW 17 56,124,741 (GRCm38) missense probably benign 0.00
R4081:Sema6b UTSW 17 56,128,307 (GRCm38) missense probably damaging 0.99
R5013:Sema6b UTSW 17 56,132,497 (GRCm38) critical splice donor site probably null
R5296:Sema6b UTSW 17 56,127,091 (GRCm38) critical splice acceptor site probably null
R5314:Sema6b UTSW 17 56,128,413 (GRCm38) nonsense probably null
R6317:Sema6b UTSW 17 56,124,047 (GRCm38) missense probably benign 0.26
R7255:Sema6b UTSW 17 56,125,336 (GRCm38) missense probably benign 0.01
R7289:Sema6b UTSW 17 56,125,573 (GRCm38) missense possibly damaging 0.77
R7805:Sema6b UTSW 17 56,131,555 (GRCm38) missense probably damaging 1.00
R8157:Sema6b UTSW 17 56,128,448 (GRCm38) missense probably damaging 1.00
R8290:Sema6b UTSW 17 56,124,803 (GRCm38) missense possibly damaging 0.93
R8305:Sema6b UTSW 17 56,127,084 (GRCm38) missense probably damaging 1.00
R9502:Sema6b UTSW 17 56,132,500 (GRCm38) missense probably benign 0.13
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-05-24