Incidental Mutation 'IGL02988:Sema6a'
ID 453516
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02988 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 47378321-47504267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 47431281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 139 (A139D)
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: A139D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019791
Gene: ENSMUSG00000019647
AA Change: A139D

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: A139D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075420
Gene: ENSMUSG00000019647
AA Change: A139D

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: A139D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111109
Gene: ENSMUSG00000019647
AA Change: A139D

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 damaging
Transcript: ENSMUST00000126684
AA Change: A139D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118655
Gene: ENSMUSG00000019647
AA Change: A139D

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: A139D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120011
Gene: ENSMUSG00000019647
AA Change: A139D

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: A139D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121442
Gene: ENSMUSG00000019647
AA Change: A139D

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 0.8999 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (71/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Aadacl4fm5 T A 4: 144,513,100 (GRCm39) probably benign Het
Adgrd1 G A 5: 129,221,074 (GRCm39) A488T probably benign Het
Ano3 T C 2: 110,605,355 (GRCm39) S284G probably damaging Het
Aox1 G T 1: 58,376,509 (GRCm39) V897L probably benign Het
Arl6 T A 16: 59,434,209 (GRCm39) probably null Het
Blnk G A 19: 40,917,660 (GRCm39) T441M probably damaging Het
Casp8ap2 C T 4: 32,644,590 (GRCm39) T1221I probably benign Het
Cbll1 A T 12: 31,542,171 (GRCm39) F63L possibly damaging Het
Cdk14 A G 5: 5,086,484 (GRCm39) Y279H probably damaging Het
Cflar A T 1: 58,780,190 (GRCm39) I265F possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Cyp3a13 A T 5: 137,897,272 (GRCm39) Y347* probably null Het
Defa27 T C 8: 21,805,583 (GRCm39) S8P probably damaging Het
Depdc5 A C 5: 33,113,511 (GRCm39) probably null Het
Dlg5 A G 14: 24,216,323 (GRCm39) F573S probably damaging Het
Fam20c A T 5: 138,741,749 (GRCm39) E120V probably benign Het
Fam53a T C 5: 33,764,819 (GRCm39) K296E probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fndc1 T C 17: 7,972,355 (GRCm39) T1526A possibly damaging Het
Gm14325 A C 2: 177,476,042 (GRCm39) probably null Het
Gm7582 G A 1: 85,019,588 (GRCm39) noncoding transcript Het
Golga7b A C 19: 42,255,239 (GRCm39) Y63S probably damaging Het
Hexb A G 13: 97,334,729 (GRCm39) L14P unknown Het
Hsd17b3 A C 13: 64,236,914 (GRCm39) L10R probably damaging Het
Il6st T C 13: 112,635,420 (GRCm39) F611L probably damaging Het
Ints13 T A 6: 146,457,646 (GRCm39) T411S possibly damaging Het
Kif18b C A 11: 102,799,146 (GRCm39) C685F probably damaging Het
Kif5c A G 2: 49,509,729 (GRCm39) N19S probably damaging Het
Lmbr1 G T 5: 29,497,221 (GRCm39) probably null Het
Minar1 A G 9: 89,484,792 (GRCm39) S202P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrc2 G A 11: 105,216,397 (GRCm39) R62Q probably benign Het
Myo1g T C 11: 6,458,183 (GRCm39) probably benign Het
Myo5a A T 9: 75,037,423 (GRCm39) probably benign Het
Nobox G A 6: 43,282,095 (GRCm39) S326L possibly damaging Het
Nsl1 C A 1: 190,795,300 (GRCm39) S22* probably null Het
Or5b3 A C 19: 13,388,826 (GRCm39) K298Q possibly damaging Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Pdia3 T A 2: 121,260,037 (GRCm39) L192Q probably damaging Het
Pkd2 A T 5: 104,651,471 (GRCm39) R940* probably null Het
Plcd3 T A 11: 102,967,568 (GRCm39) Q458L probably benign Het
Polm T A 11: 5,786,343 (GRCm39) T75S probably benign Het
Pon3 T A 6: 5,232,330 (GRCm39) D230V possibly damaging Het
Pxdn A T 12: 30,053,113 (GRCm39) K917* probably null Het
Rad54l2 A G 9: 106,577,784 (GRCm39) S1046P probably benign Het
Rb1cc1 T C 1: 6,318,035 (GRCm39) probably null Het
Rnf215 A G 11: 4,086,785 (GRCm39) E194G probably damaging Het
Rorb A T 19: 18,915,336 (GRCm39) F441I probably damaging Het
Sel1l2 C A 2: 140,090,508 (GRCm39) G378V probably damaging Het
Serpinb3d A T 1: 107,006,266 (GRCm39) M274K probably benign Het
Siglec15 A C 18: 78,092,462 (GRCm39) L32R probably damaging Het
Siglecg A T 7: 43,067,476 (GRCm39) D681V probably damaging Het
Slc6a13 G T 6: 121,303,066 (GRCm39) probably benign Het
Slc9b2 G T 3: 135,024,179 (GRCm39) A77S probably benign Het
Slit3 T A 11: 35,598,890 (GRCm39) V1498D probably damaging Het
Snorc A G 1: 87,402,926 (GRCm39) probably null Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Stxbp2 T C 8: 3,683,267 (GRCm39) probably benign Het
Tbc1d9b T C 11: 50,042,773 (GRCm39) S482P possibly damaging Het
Tec A G 5: 72,926,090 (GRCm39) S321P possibly damaging Het
Tenm3 A G 8: 48,688,381 (GRCm39) M2402T probably damaging Het
Thrap3 G A 4: 126,059,335 (GRCm39) probably null Het
Tm4sf1 A T 3: 57,200,537 (GRCm39) probably null Het
Tmcc1 T C 6: 116,019,889 (GRCm39) E306G probably damaging Het
Traf3ip3 A T 1: 192,877,182 (GRCm39) probably null Het
Utf1 C T 7: 139,523,875 (GRCm39) P30L possibly damaging Het
Wdfy3 A T 5: 102,077,847 (GRCm39) C880S probably 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
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
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'- GACGACTGTCCTGGAGCAATAC -3'
(R):5'- AAGCTTCCTGTTTGTTCTAAGC -3'

Sequencing Primer
(F):5'- TGTCCTGGAGCAATACACTAAGCTG -3'
(R):5'- GCTGTACTCTCTCCACACTGTAAC -3'
Posted On 2017-02-08