Incidental Mutation 'R7574:Sema6a'
ID 586293
Institutional Source Beutler Lab
Gene Symbol Sema6a
Ensembl Gene ENSMUSG00000019647
Gene Name sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
Synonyms VIa, Semaq, Sema6A-1, sema, A730020P05Rik
MMRRC Submission 045660-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7574 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 47378321-47504267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 47424231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 226 (V226L)
Ref Sequence ENSEMBL: ENSMUSP00000019791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019791] [ENSMUST00000076043] [ENSMUST00000115449] [ENSMUST00000126684] [ENSMUST00000135790] [ENSMUST00000156422]
AlphaFold O35464
PDB Structure Mouse Semaphorin 6A extracellular domain [X-RAY DIFFRACTION]
Plexin A2 / Semaphorin 6A complex [X-RAY DIFFRACTION]
Mouse Semaphorin 6A, extracellular domains 1-2 [X-RAY DIFFRACTION]
Plexin A2 in complex with Semaphorin 6A [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000019791
AA Change: V226L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019791
Gene: ENSMUSG00000019647
AA Change: V226L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Sema 56 487 1.06e-185 SMART
PSI 514 569 9.57e-1 SMART
transmembrane domain 648 670 N/A INTRINSIC
low complexity region 932 951 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000076043
AA Change: V226L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075420
Gene: ENSMUSG00000019647
AA Change: V226L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Sema 56 487 1.06e-185 SMART
PSI 514 569 9.57e-1 SMART
transmembrane domain 593 615 N/A INTRINSIC
low complexity region 877 896 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115449
AA Change: V226L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111109
Gene: ENSMUSG00000019647
AA Change: V226L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Sema 56 461 1.24e-168 SMART
PSI 488 543 9.57e-1 SMART
transmembrane domain 622 644 N/A INTRINSIC
low complexity region 906 925 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126684
SMART Domains Protein: ENSMUSP00000118655
Gene: ENSMUSG00000019647

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Sema 56 216 2.5e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135790
AA Change: V226L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120011
Gene: ENSMUSG00000019647
AA Change: V226L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Sema 56 487 1.06e-185 SMART
PSI 514 569 9.57e-1 SMART
transmembrane domain 665 687 N/A INTRINSIC
low complexity region 949 968 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000156422
AA Change: V226L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121442
Gene: ENSMUSG00000019647
AA Change: V226L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Sema 56 487 1.06e-185 SMART
PSI 514 569 9.57e-1 SMART
transmembrane domain 648 670 N/A INTRINSIC
low complexity region 932 951 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit defects in lamina-specific neurite stratification of specific retinal neuron subtypes and disruption of the dendritic plexus organization of On but not Off starburst amacrine cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,606,478 (GRCm39) V240A probably damaging Het
A930009A15Rik C T 10: 115,406,019 (GRCm39) probably benign Het
Aarsd1 A G 11: 101,301,970 (GRCm39) I201T probably damaging Het
Acaca T A 11: 84,152,414 (GRCm39) Y854N probably benign Het
Adra2c T C 5: 35,437,759 (GRCm39) L177P probably damaging Het
Akr1c12 A T 13: 4,329,309 (GRCm39) I16N probably damaging Het
Aldh8a1 A T 10: 21,256,729 (GRCm39) I47F possibly damaging Het
Birc6 A G 17: 74,886,879 (GRCm39) I736V probably benign Het
Bmp2 A T 2: 133,402,817 (GRCm39) M123L probably benign Het
C1ql1 T C 11: 102,836,812 (GRCm39) Y159C probably damaging Het
Ccdc148 T C 2: 58,713,645 (GRCm39) Y502C probably damaging Het
Ccdc168 A T 1: 44,098,593 (GRCm39) V835E possibly damaging Het
Cenpf A T 1: 189,390,864 (GRCm39) N989K probably damaging Het
Ciz1 A G 2: 32,257,380 (GRCm39) M142V probably benign Het
Cnot4 T C 6: 35,029,939 (GRCm39) R320G possibly damaging Het
Cyth1 G T 11: 118,073,689 (GRCm39) H215N probably damaging Het
Dapk1 G A 13: 60,908,987 (GRCm39) G1200D probably damaging Het
Dhps A G 8: 85,799,181 (GRCm39) Y103C probably damaging Het
Dnah1 T A 14: 31,041,865 (GRCm39) E35D probably benign Het
Dnajb9 A T 12: 44,254,169 (GRCm39) D79E probably damaging Het
Eif4a2 T C 16: 22,928,877 (GRCm39) F164S probably benign Het
Enpp2 T C 15: 54,714,813 (GRCm39) T595A probably benign Het
Exoc6b T A 6: 84,768,366 (GRCm39) probably null Het
Fam171a1 T C 2: 3,221,391 (GRCm39) S286P probably damaging Het
Fermt2 T A 14: 45,706,782 (GRCm39) N338I probably damaging Het
Fhdc1 A G 3: 84,353,438 (GRCm39) F596L probably benign Het
Fry T C 5: 150,304,359 (GRCm39) V583A probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gdap1 T A 1: 17,231,665 (GRCm39) F337I possibly damaging Het
Git2 C T 5: 114,904,550 (GRCm39) R123H probably damaging Het
Gpr6 A T 10: 40,946,652 (GRCm39) I310N possibly damaging Het
Gpsm2 G A 3: 108,608,061 (GRCm39) A239V probably damaging Het
Hexa T C 9: 59,471,267 (GRCm39) V507A probably benign Het
Hmcn2 A T 2: 31,345,531 (GRCm39) H4718L possibly damaging Het
Hrh4 T C 18: 13,154,970 (GRCm39) F170L possibly damaging Het
Ica1 T C 6: 8,658,266 (GRCm39) T284A probably benign Het
Itga5 T C 15: 103,258,876 (GRCm39) N774S probably damaging Het
Itgb2 T C 10: 77,395,992 (GRCm39) S556P probably benign Het
Kash5 A T 7: 44,854,035 (GRCm39) H31Q possibly damaging Het
Kcnq4 A G 4: 120,568,565 (GRCm39) F384L probably benign Het
Lama2 A T 10: 26,882,726 (GRCm39) N2612K probably benign Het
Lnx1 T C 5: 74,846,099 (GRCm39) E117G probably benign Het
Lrrc14b G T 13: 74,508,892 (GRCm39) A505E probably damaging Het
Ly6g T C 15: 75,030,413 (GRCm39) I77T probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrgpre C T 7: 143,335,087 (GRCm39) V139M probably damaging Het
Muc4 T A 16: 32,753,411 (GRCm38) S1096T probably benign Het
Myrfl G A 10: 116,667,430 (GRCm39) R337* probably null Het
Ndufa4 C T 6: 11,906,092 (GRCm39) V20I probably benign Het
Nf1 A G 11: 79,299,595 (GRCm39) D241G probably null Het
Nid1 A G 13: 13,643,028 (GRCm39) D322G probably benign Het
Nova1 A T 12: 46,747,544 (GRCm39) D244E unknown Het
Or11g27 T A 14: 50,771,770 (GRCm39) D300E probably benign Het
Or4a68 T C 2: 89,269,745 (GRCm39) K293E possibly damaging Het
Or5m10b A G 2: 85,699,350 (GRCm39) K138R probably benign Het
Padi2 C A 4: 140,676,648 (GRCm39) N595K possibly damaging Het
Pag1 A G 3: 9,758,951 (GRCm39) I389T probably damaging Het
Pcdh10 G T 3: 45,335,810 (GRCm39) G708V possibly damaging Het
Pecam1 A G 11: 106,590,610 (GRCm39) S55P probably damaging Het
Plin3 A T 17: 56,591,192 (GRCm39) V196E possibly damaging Het
Plxdc1 A T 11: 97,847,316 (GRCm39) L119Q possibly damaging Het
Pnliprp1 A T 19: 58,726,681 (GRCm39) N346I probably damaging Het
Ppp1r27 A T 11: 120,441,856 (GRCm39) Y8* probably null Het
Prg3 A T 2: 84,819,746 (GRCm39) D80V probably damaging Het
Prmt5 T C 14: 54,745,347 (GRCm39) N607D possibly damaging Het
Ptprs A G 17: 56,730,538 (GRCm39) F1144L probably benign Het
Rai14 C T 15: 10,593,189 (GRCm39) G152R probably damaging Het
Rap1gds1 T A 3: 138,661,976 (GRCm39) R427* probably null Het
Recql5 A G 11: 115,819,248 (GRCm39) V106A probably benign Het
Resp18 T C 1: 75,250,615 (GRCm39) T155A probably benign Het
Rfx6 A G 10: 51,557,914 (GRCm39) D129G probably benign Het
Rsf1 T A 7: 97,310,374 (GRCm39) I368K Het
Sf1 A G 19: 6,422,234 (GRCm39) E220G probably damaging Het
Shld2 C T 14: 33,959,423 (GRCm39) S853N probably damaging Het
Sidt1 T A 16: 44,079,848 (GRCm39) Y602F probably damaging Het
Slc17a8 A G 10: 89,428,008 (GRCm39) I273T probably benign Het
Slc28a2b A T 2: 122,353,325 (GRCm39) I502F not run Het
Slc41a1 A T 1: 131,766,889 (GRCm39) I136F probably damaging Het
Snrpb T C 2: 130,018,939 (GRCm39) I51V probably benign Het
Sprr2f T A 3: 92,273,254 (GRCm39) C18S unknown Het
Stab1 T C 14: 30,876,622 (GRCm39) N864S probably benign Het
Svil C A 18: 5,095,188 (GRCm39) T1457K probably benign Het
Syt1 A T 10: 108,340,262 (GRCm39) I352N probably damaging Het
Tas2r119 A G 15: 32,178,279 (GRCm39) K282E probably damaging Het
Timeless T C 10: 128,080,538 (GRCm39) F473S probably damaging Het
Tmc3 A G 7: 83,247,481 (GRCm39) D192G probably damaging Het
Trmt1l T A 1: 151,316,591 (GRCm39) I184N possibly damaging Het
Ttll6 G A 11: 96,025,701 (GRCm39) V61M probably damaging Het
Ttn C T 2: 76,632,755 (GRCm39) E14100K probably damaging Het
Txndc2 T A 17: 65,945,620 (GRCm39) I186F possibly damaging Het
Ubr1 A T 2: 120,703,672 (GRCm39) S1553T possibly damaging Het
Vmn1r208 T C 13: 22,956,705 (GRCm39) N264S probably benign Het
Vmn1r87 T A 7: 12,865,613 (GRCm39) M225L probably benign Het
Vmn2r101 T A 17: 19,831,899 (GRCm39) C632S possibly damaging Het
Wdr97 T A 15: 76,241,949 (GRCm39) Y747* probably null Het
Zfp474 T C 18: 52,772,261 (GRCm39) S305P probably benign Het
Zfp59 A G 7: 27,552,863 (GRCm39) N105S probably benign Het
Zfp804b T A 5: 6,822,301 (GRCm39) Y254F possibly damaging Het
Other mutations in Sema6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Sema6a APN 18 47,423,042 (GRCm39) critical splice donor site probably null
IGL01351:Sema6a APN 18 47,414,369 (GRCm39) missense possibly damaging 0.84
IGL01594:Sema6a APN 18 47,381,884 (GRCm39) missense probably damaging 1.00
IGL01953:Sema6a APN 18 47,423,187 (GRCm39) nonsense probably null
IGL02077:Sema6a APN 18 47,416,465 (GRCm39) missense possibly damaging 0.94
IGL02632:Sema6a APN 18 47,423,222 (GRCm39) missense probably damaging 1.00
IGL02957:Sema6a APN 18 47,382,291 (GRCm39) missense probably damaging 1.00
IGL03013:Sema6a APN 18 47,381,461 (GRCm39) missense probably benign 0.01
IGL03279:Sema6a APN 18 47,433,157 (GRCm39) nonsense probably null
saphire UTSW 18 47,439,496 (GRCm39) nonsense probably null
IGL02988:Sema6a UTSW 18 47,431,281 (GRCm39) missense probably damaging 1.00
R0114:Sema6a UTSW 18 47,423,244 (GRCm39) missense probably damaging 1.00
R0311:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0312:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0347:Sema6a UTSW 18 47,424,196 (GRCm39) missense probably damaging 1.00
R0350:Sema6a UTSW 18 47,403,785 (GRCm39) missense probably benign
R0366:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0368:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0391:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0403:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0466:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0515:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0517:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0542:Sema6a UTSW 18 47,381,643 (GRCm39) missense probably damaging 1.00
R0557:Sema6a UTSW 18 47,382,567 (GRCm39) missense probably benign 0.01
R0569:Sema6a UTSW 18 47,403,872 (GRCm39) splice site probably null
R0650:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0689:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0694:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0726:Sema6a UTSW 18 47,425,048 (GRCm39) missense probably damaging 1.00
R0741:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0821:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0824:Sema6a UTSW 18 47,423,112 (GRCm39) splice site probably null
R0924:Sema6a UTSW 18 47,381,559 (GRCm39) missense probably damaging 1.00
R1108:Sema6a UTSW 18 47,439,498 (GRCm39) missense probably benign 0.02
R1255:Sema6a UTSW 18 47,382,366 (GRCm39) missense probably damaging 0.98
R1422:Sema6a UTSW 18 47,439,498 (GRCm39) missense probably benign 0.02
R1531:Sema6a UTSW 18 47,382,066 (GRCm39) missense probably damaging 1.00
R1707:Sema6a UTSW 18 47,416,512 (GRCm39) missense probably benign 0.04
R1746:Sema6a UTSW 18 47,439,416 (GRCm39) splice site probably benign
R1807:Sema6a UTSW 18 47,409,491 (GRCm39) missense possibly damaging 0.85
R1974:Sema6a UTSW 18 47,403,696 (GRCm39) missense probably benign 0.04
R1987:Sema6a UTSW 18 47,433,209 (GRCm39) missense probably damaging 1.00
R2044:Sema6a UTSW 18 47,439,496 (GRCm39) nonsense probably null
R3719:Sema6a UTSW 18 47,382,144 (GRCm39) missense probably damaging 1.00
R4491:Sema6a UTSW 18 47,439,524 (GRCm39) utr 5 prime probably benign
R4552:Sema6a UTSW 18 47,424,990 (GRCm39) missense probably damaging 1.00
R4707:Sema6a UTSW 18 47,381,779 (GRCm39) missense probably benign 0.43
R4710:Sema6a UTSW 18 47,403,750 (GRCm39) missense probably benign 0.00
R4713:Sema6a UTSW 18 47,382,363 (GRCm39) missense possibly damaging 0.79
R4963:Sema6a UTSW 18 47,431,318 (GRCm39) missense possibly damaging 0.48
R5088:Sema6a UTSW 18 47,382,196 (GRCm39) missense probably damaging 1.00
R5133:Sema6a UTSW 18 47,433,195 (GRCm39) missense probably damaging 1.00
R5135:Sema6a UTSW 18 47,424,239 (GRCm39) missense probably damaging 1.00
R5141:Sema6a UTSW 18 47,381,455 (GRCm39) missense probably damaging 1.00
R5277:Sema6a UTSW 18 47,409,611 (GRCm39) intron probably benign
R5551:Sema6a UTSW 18 47,381,595 (GRCm39) missense possibly damaging 0.76
R5618:Sema6a UTSW 18 47,415,015 (GRCm39) missense probably damaging 0.98
R5717:Sema6a UTSW 18 47,382,330 (GRCm39) missense probably benign 0.01
R5729:Sema6a UTSW 18 47,414,410 (GRCm39) missense probably damaging 1.00
R5779:Sema6a UTSW 18 47,381,893 (GRCm39) missense probably damaging 1.00
R5917:Sema6a UTSW 18 47,414,405 (GRCm39) missense probably benign 0.05
R6054:Sema6a UTSW 18 47,416,470 (GRCm39) missense possibly damaging 0.94
R6142:Sema6a UTSW 18 47,414,266 (GRCm39) missense probably benign 0.00
R6209:Sema6a UTSW 18 47,431,369 (GRCm39) splice site probably null
R6307:Sema6a UTSW 18 47,382,231 (GRCm39) missense probably damaging 1.00
R6734:Sema6a UTSW 18 47,412,236 (GRCm39) missense probably benign 0.31
R7014:Sema6a UTSW 18 47,431,284 (GRCm39) missense probably damaging 1.00
R7033:Sema6a UTSW 18 47,381,637 (GRCm39) missense probably damaging 0.96
R8054:Sema6a UTSW 18 47,424,972 (GRCm39) missense probably damaging 1.00
R8250:Sema6a UTSW 18 47,423,182 (GRCm39) missense probably damaging 0.99
R8408:Sema6a UTSW 18 47,381,958 (GRCm39) missense probably benign 0.34
R8411:Sema6a UTSW 18 47,382,022 (GRCm39) missense probably benign 0.00
R8900:Sema6a UTSW 18 47,424,182 (GRCm39) missense probably damaging 1.00
R9140:Sema6a UTSW 18 47,415,009 (GRCm39) missense probably benign
R9158:Sema6a UTSW 18 47,431,330 (GRCm39) missense probably damaging 0.98
R9488:Sema6a UTSW 18 47,437,216 (GRCm39) missense probably damaging 1.00
R9565:Sema6a UTSW 18 47,382,594 (GRCm39) missense probably null 1.00
R9652:Sema6a UTSW 18 47,382,252 (GRCm39) missense probably damaging 1.00
R9732:Sema6a UTSW 18 47,381,925 (GRCm39) missense probably damaging 0.96
X0065:Sema6a UTSW 18 47,416,386 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- CAGCTTAGTCTGTCACTTCTGG -3'
(R):5'- GCCTTCTGAAATCACTAGCGC -3'

Sequencing Primer
(F):5'- CATCCCTGTTGTCATCGGG -3'
(R):5'- AGCGCTTGCACTTCTGAAG -3'
Posted On 2019-10-24