Incidental Mutation 'R5088:Sema6a'
ID 387609
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 042677-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5088 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 47378321-47504267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47382196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 784 (I784F)
Ref Sequence ENSEMBL: ENSMUSP00000121442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019791] [ENSMUST00000076043] [ENSMUST00000115449] [ENSMUST00000135790] [ENSMUST00000156422]
AlphaFold O35464
Predicted Effect probably damaging
Transcript: ENSMUST00000019791
AA Change: I784F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019791
Gene: ENSMUSG00000019647
AA Change: I784F

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: I729F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075420
Gene: ENSMUSG00000019647
AA Change: I729F

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: I758F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111109
Gene: ENSMUSG00000019647
AA Change: I758F

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: ENSMUST00000123228
SMART Domains Protein: ENSMUSP00000120249
Gene: ENSMUSG00000019647

DomainStartEndE-ValueType
Blast:PSI 2 45 4e-26 BLAST
PDB:3OKY|B 2 47 2e-26 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000135790
AA Change: I801F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120011
Gene: ENSMUSG00000019647
AA Change: I801F

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: I784F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121442
Gene: ENSMUSG00000019647
AA Change: I784F

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (72/73)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,883,939 (GRCm39) C640S probably damaging Het
4931429L15Rik T C 9: 46,217,038 (GRCm39) R246G probably benign Het
Aak1 T C 6: 86,921,462 (GRCm39) probably null Het
Abcc5 A G 16: 20,195,412 (GRCm39) L695P probably damaging Het
Alcam T A 16: 52,109,290 (GRCm39) T328S probably damaging Het
Alpk1 A G 3: 127,478,969 (GRCm39) probably benign Het
Arel1 A G 12: 84,970,889 (GRCm39) L642P probably damaging Het
Atrip T C 9: 108,888,964 (GRCm39) D741G probably damaging Het
Bmp1 T C 14: 70,723,659 (GRCm39) T726A possibly damaging Het
Bnip3 A G 7: 138,496,337 (GRCm39) probably null Het
Cacng5 C G 11: 107,768,215 (GRCm39) C264S possibly damaging Het
Calr4 T A 4: 109,101,859 (GRCm39) probably benign Het
Cdhr1 T A 14: 36,811,422 (GRCm39) T230S probably benign Het
Cdk16 T C X: 20,562,566 (GRCm39) probably benign Het
Cenpj T C 14: 56,791,148 (GRCm39) E337G probably damaging Het
Chd9 A G 8: 91,704,147 (GRCm39) I694V possibly damaging Het
Chsy3 T A 18: 59,312,607 (GRCm39) V360D probably damaging Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Col5a1 G A 2: 27,908,614 (GRCm39) W67* probably null Het
Cyp20a1 A T 1: 60,402,509 (GRCm39) H198L probably damaging Het
Dnai1 T A 4: 41,597,630 (GRCm39) S38T probably benign Het
Dnai1 T G 4: 41,632,251 (GRCm39) S562A probably benign Het
Dpy19l4 G T 4: 11,303,357 (GRCm39) T188K probably damaging Het
Ergic2 A G 6: 148,084,621 (GRCm39) V304A probably damaging Het
Fam83a A G 15: 57,873,196 (GRCm39) T342A probably benign Het
Fbxo7 A G 10: 85,857,784 (GRCm39) probably benign Het
Gins4 T C 8: 23,727,084 (GRCm39) E3G possibly damaging Het
Glis3 G A 19: 28,508,979 (GRCm39) P335L probably benign Het
Golph3l A T 3: 95,524,501 (GRCm39) T251S possibly damaging Het
Hnf4g C T 3: 3,722,181 (GRCm39) A445V probably benign Het
Hykk A G 9: 54,853,763 (GRCm39) I362V probably benign Het
Il6st G A 13: 112,627,089 (GRCm39) V294M probably damaging Het
Itpr1 A G 6: 108,366,348 (GRCm39) I92V probably damaging Het
Kdm4c T C 4: 74,252,936 (GRCm39) L501P probably benign Het
Mpi G A 9: 57,457,887 (GRCm39) T105M probably damaging Het
Mrpl37 A T 4: 106,921,919 (GRCm39) L132H probably damaging Het
Muc5ac A T 7: 141,350,056 (GRCm39) T600S possibly damaging Het
Npl A T 1: 153,384,890 (GRCm39) I249N possibly damaging Het
Or10j27 C T 1: 172,958,606 (GRCm39) M59I probably damaging Het
Or7g30 A G 9: 19,353,067 (GRCm39) N286S probably damaging Het
Pkd1 A G 17: 24,809,812 (GRCm39) K3497E possibly damaging Het
Ptprt T C 2: 162,080,095 (GRCm39) N235D probably benign Het
Rangap1 A C 15: 81,594,664 (GRCm39) D388E probably benign Het
Rcvrn A T 11: 67,586,340 (GRCm39) Q33L probably benign Het
Rif1 A T 2: 51,982,307 (GRCm39) K524I possibly damaging Het
Rnf139 A T 15: 58,771,790 (GRCm39) N605I possibly damaging Het
Ryr2 C A 13: 11,727,129 (GRCm39) G2411* probably null Het
Scn3a A T 2: 65,302,643 (GRCm39) S1268T probably damaging Het
Sgms2 C T 3: 131,124,005 (GRCm39) V232M probably benign Het
Skint7 T C 4: 111,837,627 (GRCm39) I135T possibly damaging Het
Smchd1 A T 17: 71,738,343 (GRCm39) N507K possibly damaging Het
Spata31d1a A C 13: 59,848,966 (GRCm39) probably null Het
Spata7 A T 12: 98,635,761 (GRCm39) D527V probably benign Het
Srcap A G 7: 127,140,833 (GRCm39) T1477A probably benign Het
Srl C A 16: 4,300,633 (GRCm39) D375Y probably damaging Het
Stk4 A T 2: 163,925,608 (GRCm39) K58* probably null Het
Svep1 T G 4: 58,120,648 (GRCm39) H795P possibly damaging Het
Trak2 T A 1: 58,974,967 (GRCm39) Q75L probably benign Het
Ubxn2a T A 12: 4,933,904 (GRCm39) N169I probably damaging Het
Vmn1r216 T A 13: 23,283,473 (GRCm39) L52* probably null Het
Vmn2r108 A T 17: 20,690,454 (GRCm39) N459K possibly damaging Het
Vstm5 A G 9: 15,168,601 (GRCm39) D55G possibly damaging Het
Wdr24 T A 17: 26,047,181 (GRCm39) probably null Het
Zfp13 C A 17: 23,796,035 (GRCm39) E179* probably null Het
Zfp839 T C 12: 110,834,610 (GRCm39) S546P 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
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
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'- ACCACCTCGCTCATTTTGGG -3'
(R):5'- AGTGTCACCAAGCTCAGTG -3'

Sequencing Primer
(F):5'- CATTTTGGGCTGATCTACGTAC -3'
(R):5'- CAAGCTCAGTGGCCTCTTTGG -3'
Posted On 2016-06-06