Incidental Mutation 'R0114:Sema6a'
ID 20683
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 038400-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0114 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 18
Chromosomal Location 47378321-47504267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47423244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 254 (V254A)
Ref Sequence ENSEMBL: ENSMUSP00000121442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019791] [ENSMUST00000076043] [ENSMUST00000115449] [ENSMUST00000126684] [ENSMUST00000135790] [ENSMUST00000156422]
AlphaFold O35464
Predicted Effect probably damaging
Transcript: ENSMUST00000019791
AA Change: V254A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019791
Gene: ENSMUSG00000019647
AA Change: V254A

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: V254A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075420
Gene: ENSMUSG00000019647
AA Change: V254A

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: V254A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111109
Gene: ENSMUSG00000019647
AA Change: V254A

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: V254A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120011
Gene: ENSMUSG00000019647
AA Change: V254A

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 noncoding transcript
Transcript: ENSMUST00000141224
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151382
Predicted Effect probably damaging
Transcript: ENSMUST00000156422
AA Change: V254A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121442
Gene: ENSMUSG00000019647
AA Change: V254A

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
Meta Mutation Damage Score 0.3403 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 93.2%
  • 20x: 79.2%
Validation Efficiency 100% (99/99)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,861,978 (GRCm39) probably benign Het
4933427D14Rik T C 11: 72,086,625 (GRCm39) Y262C probably damaging Het
Adamts1 C A 16: 85,596,502 (GRCm39) V379L probably benign Het
Akt3 T C 1: 176,894,817 (GRCm39) D260G probably damaging Het
Alms1 T C 6: 85,596,785 (GRCm39) L537P probably benign Het
Anln A T 9: 22,264,642 (GRCm39) I876N probably damaging Het
Ano9 A T 7: 140,683,152 (GRCm39) probably benign Het
Arhgef10l T C 4: 140,311,194 (GRCm39) E218G probably benign Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Atp9a G T 2: 168,552,776 (GRCm39) Y63* probably null Het
Bmpr2 G T 1: 59,854,499 (GRCm39) C116F probably damaging Het
Cand1 T C 10: 119,052,427 (GRCm39) D233G probably benign Het
Cftr A T 6: 18,282,447 (GRCm39) H1049L probably damaging Het
Ckap5 A T 2: 91,450,457 (GRCm39) D1975V possibly damaging Het
Cyp26c1 T C 19: 37,675,081 (GRCm39) V134A probably benign Het
Dnai1 T C 4: 41,605,686 (GRCm39) probably benign Het
Dpp10 T C 1: 123,413,821 (GRCm39) I163V probably benign Het
Fam151a A T 4: 106,591,201 (GRCm39) I15F possibly damaging Het
Fanca A T 8: 124,015,230 (GRCm39) probably null Het
Fes A G 7: 80,027,783 (GRCm39) V787A probably damaging Het
Fnip1 C T 11: 54,378,627 (GRCm39) probably benign Het
Gabpb1 A G 2: 126,495,494 (GRCm39) I86T probably damaging Het
Gmds A T 13: 32,411,264 (GRCm39) S57T probably benign Het
Gnpat T G 8: 125,610,096 (GRCm39) D426E probably benign Het
Gnptab C A 10: 88,269,262 (GRCm39) P655Q possibly damaging Het
Gpi-ps A G 8: 5,690,359 (GRCm39) noncoding transcript Het
Herc1 T A 9: 66,369,128 (GRCm39) F2941I probably damaging Het
Herc2 T C 7: 55,803,522 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Itga11 T G 9: 62,642,575 (GRCm39) V166G probably damaging Het
Itga11 T C 9: 62,667,584 (GRCm39) V639A possibly damaging Het
Itpr2 A G 6: 146,214,377 (GRCm39) F1490S probably damaging Het
Lama2 C A 10: 26,869,064 (GRCm39) E802* probably null Het
Lgi3 C T 14: 70,768,469 (GRCm39) probably benign Het
Limch1 C T 5: 67,193,427 (GRCm39) probably benign Het
Lipc T C 9: 70,711,063 (GRCm39) N363S probably damaging Het
Lrit2 A G 14: 36,790,002 (GRCm39) probably null Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mug2 A G 6: 122,017,607 (GRCm39) Y448C probably damaging Het
Mybpc3 A G 2: 90,954,839 (GRCm39) E450G probably damaging Het
Myo5b A T 18: 74,875,242 (GRCm39) T1549S probably benign Het
Naa15 T C 3: 51,355,859 (GRCm39) probably null Het
Nckap1l T A 15: 103,363,455 (GRCm39) C54S probably benign Het
Nlrp9b A G 7: 19,757,981 (GRCm39) D406G probably benign Het
Nprl3 T A 11: 32,189,784 (GRCm39) probably benign Het
Nvl A G 1: 180,947,956 (GRCm39) V429A probably benign Het
Opa1 A T 16: 29,448,453 (GRCm39) N912Y probably benign Het
Or14j3 A T 17: 37,900,306 (GRCm39) *313K probably null Het
Or1x2 G A 11: 50,918,431 (GRCm39) V201I probably benign Het
Or52b4i A T 7: 102,191,938 (GRCm39) Q265L probably benign Het
Or6c211 T A 10: 129,505,467 (GRCm39) Y307F probably benign Het
Pcnx1 T C 12: 82,042,869 (GRCm39) V2317A possibly damaging Het
Phf3 A T 1: 30,844,524 (GRCm39) N1478K possibly damaging Het
Phykpl G A 11: 51,477,480 (GRCm39) D91N probably benign Het
Polr2b T A 5: 77,491,110 (GRCm39) C984S probably damaging Het
Ppfibp1 A G 6: 146,899,731 (GRCm39) R141G probably benign Het
Ppm1d G A 11: 85,217,731 (GRCm39) G20R probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Ppp2r5b C A 19: 6,278,461 (GRCm39) V483F probably benign Het
Ppp4r4 T A 12: 103,542,633 (GRCm39) C132S probably benign Het
Prg2 A G 2: 84,813,800 (GRCm39) probably benign Het
Prpf4b G A 13: 35,074,471 (GRCm39) probably benign Het
Rad54l2 T C 9: 106,590,654 (GRCm39) T491A probably damaging Het
Rnf213 G T 11: 119,305,413 (GRCm39) W548L probably damaging Het
Rusc2 G T 4: 43,422,055 (GRCm39) C825F probably damaging Het
Sema4b A G 7: 79,868,826 (GRCm39) probably benign Het
Slc13a3 A G 2: 165,266,501 (GRCm39) F346L probably damaging Het
Slc25a17 T C 15: 81,222,160 (GRCm39) D104G probably damaging Het
Specc1 A T 11: 62,037,139 (GRCm39) N707Y possibly damaging Het
Tex48 T A 4: 63,526,696 (GRCm39) E76V probably damaging Het
Tfr2 T C 5: 137,575,727 (GRCm39) V281A probably benign Het
Tgfb1i1 A C 7: 127,848,666 (GRCm39) Q238H probably damaging Het
Thoc6 G A 17: 23,889,213 (GRCm39) T122I probably benign Het
Tmtc1 G A 6: 148,314,328 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 145,014,617 (GRCm39) D264G possibly damaging Het
Trim43a T A 9: 88,466,213 (GRCm39) I178N probably damaging Het
Ttn G C 2: 76,537,437 (GRCm39) I26503M possibly damaging Het
Usp28 C A 9: 48,950,323 (GRCm39) D589E probably benign Het
Utp23 T C 15: 51,745,907 (GRCm39) S242P probably damaging Het
Vwa3a A G 7: 120,374,603 (GRCm39) Y305C probably benign Het
Vwa5b1 C A 4: 138,336,169 (GRCm39) E142* probably null Het
Xrn2 A T 2: 146,871,699 (GRCm39) T374S probably damaging Het
Zfp735 A T 11: 73,601,488 (GRCm39) Q144L probably benign 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
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
R7574:Sema6a UTSW 18 47,424,231 (GRCm39) missense probably damaging 1.00
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'- TGCGAATCACATCTGTAACTGCCTG -3'
(R):5'- TGGTAGAGGGACTCACACTCCAAG -3'

Sequencing Primer
(F):5'- CATCTGTAACTGCCTGGAGTATATTG -3'
(R):5'- TCTGCTGAGTTtttttttttttttcc -3'
Posted On 2013-04-11