Incidental Mutation 'R9511:Sema6d'
ID 718148
Institutional Source Beutler Lab
Gene Symbol Sema6d
Ensembl Gene ENSMUSG00000027200
Gene Name sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D
Synonyms Sema6D-6, 1110067B02Rik, Sema6D-1, Sema6D-4, Sema6D-5, Sema6D-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9511 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 123931889-124509690 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124499943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 340 (F340L)
Ref Sequence ENSEMBL: ENSMUSP00000061123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051419] [ENSMUST00000076335] [ENSMUST00000077847] [ENSMUST00000078621] [ENSMUST00000103238] [ENSMUST00000103239] [ENSMUST00000103240] [ENSMUST00000103241]
AlphaFold Q76KF0
Predicted Effect probably damaging
Transcript: ENSMUST00000051419
AA Change: F340L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061123
Gene: ENSMUSG00000027200
AA Change: F340L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Sema 57 487 7.29e-184 SMART
PSI 514 582 4.57e-1 SMART
transmembrane domain 602 624 N/A INTRINSIC
low complexity region 743 764 N/A INTRINSIC
internal_repeat_1 797 898 7.43e-5 PROSPERO
internal_repeat_1 892 1004 7.43e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000076335
AA Change: F340L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075674
Gene: ENSMUSG00000027200
AA Change: F340L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Sema 57 487 7.29e-184 SMART
PSI 514 569 1.12e-1 SMART
transmembrane domain 589 611 N/A INTRINSIC
low complexity region 730 751 N/A INTRINSIC
internal_repeat_1 784 885 7.28e-5 PROSPERO
internal_repeat_1 879 991 7.28e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000077847
AA Change: F340L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077014
Gene: ENSMUSG00000027200
AA Change: F340L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Sema 57 487 7.29e-184 SMART
PSI 514 569 1.12e-1 SMART
low complexity region 573 584 N/A INTRINSIC
transmembrane domain 645 667 N/A INTRINSIC
low complexity region 786 807 N/A INTRINSIC
internal_repeat_1 840 941 5.95e-5 PROSPERO
internal_repeat_1 935 1047 5.95e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000078621
AA Change: F340L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077691
Gene: ENSMUSG00000027200
AA Change: F340L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Sema 57 487 7.29e-184 SMART
PSI 514 582 4.57e-1 SMART
transmembrane domain 621 643 N/A INTRINSIC
low complexity region 762 783 N/A INTRINSIC
internal_repeat_1 816 917 8.83e-5 PROSPERO
internal_repeat_1 911 1023 8.83e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000103238
AA Change: F340L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099528
Gene: ENSMUSG00000027200
AA Change: F340L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Sema 57 487 7.29e-184 SMART
PSI 514 569 1.12e-1 SMART
low complexity region 573 584 N/A INTRINSIC
transmembrane domain 645 667 N/A INTRINSIC
low complexity region 786 807 N/A INTRINSIC
internal_repeat_1 840 941 5.95e-5 PROSPERO
internal_repeat_1 935 1047 5.95e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000103239
AA Change: F340L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099529
Gene: ENSMUSG00000027200
AA Change: F340L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Sema 57 487 7.29e-184 SMART
PSI 514 569 1.12e-1 SMART
low complexity region 587 603 N/A INTRINSIC
transmembrane domain 664 686 N/A INTRINSIC
low complexity region 805 826 N/A INTRINSIC
internal_repeat_1 859 960 5.78e-5 PROSPERO
internal_repeat_1 954 1066 5.78e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000103240
AA Change: F340L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099530
Gene: ENSMUSG00000027200
AA Change: F340L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Sema 57 487 7.29e-184 SMART
PSI 514 569 1.12e-1 SMART
low complexity region 587 603 N/A INTRINSIC
transmembrane domain 660 682 N/A INTRINSIC
low complexity region 801 822 N/A INTRINSIC
internal_repeat_1 855 956 5.63e-5 PROSPERO
internal_repeat_1 950 1062 5.63e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000103241
AA Change: F340L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099531
Gene: ENSMUSG00000027200
AA Change: F340L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Sema 57 487 7.29e-184 SMART
PSI 514 569 1.12e-1 SMART
transmembrane domain 589 611 N/A INTRINSIC
low complexity region 730 751 N/A INTRINSIC
internal_repeat_1 784 885 7.28e-5 PROSPERO
internal_repeat_1 879 991 7.28e-5 PROSPERO
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal dendritic cell trafficking and antigen-specific T cell priming. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,445,848 (GRCm39) probably benign Het
Abca13 T A 11: 9,278,130 (GRCm39) S3103R probably benign Het
Alg9 A C 9: 50,717,525 (GRCm39) Y436S probably damaging Het
Ankar G A 1: 72,719,161 (GRCm39) R563C probably benign Het
Ankrd34a C A 3: 96,505,401 (GRCm39) R202S probably benign Het
Art4 T A 6: 136,831,613 (GRCm39) N176I possibly damaging Het
Bivm A G 1: 44,182,250 (GRCm39) E486G possibly damaging Het
Ccdc168 T G 1: 44,098,854 (GRCm39) D748A probably benign Het
Ccdc3 C A 2: 5,143,090 (GRCm39) Q116K probably damaging Het
Cdc42bpb G A 12: 111,261,372 (GRCm39) P1656S probably benign Het
Cdh6 T C 15: 13,034,677 (GRCm39) D661G probably damaging Het
Chek1 T C 9: 36,624,747 (GRCm39) N368S probably benign Het
Dnah11 A T 12: 117,878,352 (GRCm39) F3924L probably damaging Het
Dusp7 T C 9: 106,248,125 (GRCm39) I251T probably damaging Het
Dysf T A 6: 84,090,650 (GRCm39) W988R probably damaging Het
Dzip1l T C 9: 99,519,710 (GRCm39) V79A possibly damaging Het
Ebf1 A G 11: 44,815,393 (GRCm39) I344V probably benign Het
Ern2 T C 7: 121,776,823 (GRCm39) E336G probably benign Het
Fat4 T C 3: 39,034,802 (GRCm39) L2818P probably damaging Het
Gjb3 T C 4: 127,220,131 (GRCm39) S134G probably damaging Het
Gm10647 T C 9: 66,705,756 (GRCm39) F108L unknown Het
Gm19410 A T 8: 36,257,848 (GRCm39) D762V probably damaging Het
Gper1 A G 5: 139,412,138 (GRCm39) K161R probably benign Het
Grin1 A G 2: 25,187,426 (GRCm39) M628T probably damaging Het
Gsdmc A T 15: 63,649,897 (GRCm39) D331E probably benign Het
Haus3 C A 5: 34,325,571 (GRCm39) W29C probably damaging Het
Il10ra T C 9: 45,167,690 (GRCm39) E289G probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kcnma1 T C 14: 23,361,793 (GRCm39) T1133A possibly damaging Het
Ksr1 G A 11: 78,924,094 (GRCm39) T458M possibly damaging Het
Mc5r T A 18: 68,472,565 (GRCm39) M308K possibly damaging Het
Mis18a T C 16: 90,518,525 (GRCm39) S146G possibly damaging Het
Mrpl50 G A 4: 49,514,501 (GRCm39) R57* probably null Het
Mtfmt C T 9: 65,343,147 (GRCm39) R18C probably benign Het
Nanos1 T A 19: 60,745,413 (GRCm39) I237N probably damaging Het
Ncor1 TGC TGCGGC 11: 62,324,449 (GRCm39) probably benign Het
Ndst3 T A 3: 123,400,555 (GRCm39) E450D probably damaging Het
Nek10 C A 14: 14,828,511 (GRCm38) T111K probably benign Het
Nipal2 T C 15: 34,584,833 (GRCm39) Y245C probably damaging Het
Npat T A 9: 53,473,406 (GRCm39) D399E probably benign Het
Opa1 A G 16: 29,429,738 (GRCm39) S378G probably damaging Het
Or5b102 T C 19: 13,041,119 (GRCm39) S115P probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Pex16 A T 2: 92,209,559 (GRCm39) probably null Het
Plec A T 15: 76,058,897 (GRCm39) I3680N probably damaging Het
Plin3 A T 17: 56,591,225 (GRCm39) V185E probably damaging Het
Prex1 T A 2: 166,413,481 (GRCm39) D1512V probably damaging Het
Ptpn22 T A 3: 103,792,913 (GRCm39) S355T probably benign Het
Ranbp3l A G 15: 9,041,991 (GRCm39) probably benign Het
Scn5a A G 9: 119,351,611 (GRCm39) I790T probably benign Het
Slc22a2 A G 17: 12,828,916 (GRCm39) T341A probably damaging Het
Slc6a6 T C 6: 91,721,921 (GRCm39) Y374H probably damaging Het
Slitrk3 T G 3: 72,958,272 (GRCm39) S167R possibly damaging Het
Smchd1 G A 17: 71,750,899 (GRCm39) H340Y possibly damaging Het
Sorcs1 C T 19: 50,666,521 (GRCm39) R129Q probably benign Het
Sox9 A G 11: 112,676,001 (GRCm39) T397A possibly damaging Het
Tnpo1 C A 13: 99,003,621 (GRCm39) R245L possibly damaging Het
Traip T A 9: 107,838,785 (GRCm39) M183K probably damaging Het
Trpc6 A T 9: 8,680,419 (GRCm39) E882D probably benign Het
Uba6 C A 5: 86,288,219 (GRCm39) G491V probably damaging Het
Uqcrfs1 A T 13: 30,729,037 (GRCm39) V65E probably benign Het
Urgcp T C 11: 5,668,128 (GRCm39) D113G probably damaging Het
Wdr76 C T 2: 121,372,976 (GRCm39) T503M probably damaging Het
Zfp27 T C 7: 29,593,641 (GRCm39) T775A possibly damaging Het
Zfp518b A T 5: 38,829,395 (GRCm39) V870E possibly damaging Het
Zfp932 T A 5: 110,155,177 (GRCm39) H63Q possibly damaging Het
Zkscan6 C A 11: 65,712,817 (GRCm39) T250N probably damaging Het
Zmat2 A T 18: 36,930,958 (GRCm39) K161N possibly damaging Het
Zyg11a A G 4: 108,062,420 (GRCm39) L127P probably damaging Het
Other mutations in Sema6d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Sema6d APN 2 124,501,785 (GRCm39) missense possibly damaging 0.91
IGL00508:Sema6d APN 2 124,498,844 (GRCm39) splice site probably benign
IGL00710:Sema6d APN 2 124,504,208 (GRCm39) missense probably benign 0.00
IGL00811:Sema6d APN 2 124,500,389 (GRCm39) missense probably damaging 1.00
IGL01457:Sema6d APN 2 124,495,562 (GRCm39) missense unknown
IGL01524:Sema6d APN 2 124,505,995 (GRCm39) missense possibly damaging 0.86
IGL01598:Sema6d APN 2 124,507,018 (GRCm39) missense probably damaging 1.00
IGL01915:Sema6d APN 2 124,500,491 (GRCm39) splice site probably benign
IGL02365:Sema6d APN 2 124,498,788 (GRCm39) missense probably benign 0.14
IGL02698:Sema6d APN 2 124,495,643 (GRCm39) missense possibly damaging 0.95
IGL02865:Sema6d APN 2 124,505,993 (GRCm39) missense probably damaging 1.00
IGL03018:Sema6d APN 2 124,501,520 (GRCm39) missense possibly damaging 0.95
IGL03333:Sema6d APN 2 124,506,290 (GRCm39) missense possibly damaging 0.83
R0269:Sema6d UTSW 2 124,502,665 (GRCm39) missense possibly damaging 0.63
R0390:Sema6d UTSW 2 124,500,410 (GRCm39) missense probably damaging 1.00
R0541:Sema6d UTSW 2 124,507,197 (GRCm39) missense probably benign 0.25
R0615:Sema6d UTSW 2 124,496,055 (GRCm39) splice site probably benign
R0617:Sema6d UTSW 2 124,502,665 (GRCm39) missense possibly damaging 0.63
R0694:Sema6d UTSW 2 124,505,961 (GRCm39) missense probably damaging 1.00
R0854:Sema6d UTSW 2 124,507,222 (GRCm39) missense probably damaging 0.97
R1630:Sema6d UTSW 2 124,506,265 (GRCm39) missense possibly damaging 0.89
R1682:Sema6d UTSW 2 124,507,069 (GRCm39) missense probably benign 0.21
R1823:Sema6d UTSW 2 124,501,476 (GRCm39) splice site probably null
R1932:Sema6d UTSW 2 124,501,806 (GRCm39) critical splice donor site probably null
R2249:Sema6d UTSW 2 124,501,508 (GRCm39) missense possibly damaging 0.54
R2256:Sema6d UTSW 2 124,506,070 (GRCm39) missense probably damaging 1.00
R2331:Sema6d UTSW 2 124,499,983 (GRCm39) missense probably damaging 1.00
R2910:Sema6d UTSW 2 124,506,957 (GRCm39) missense probably damaging 1.00
R3683:Sema6d UTSW 2 124,496,146 (GRCm39) missense possibly damaging 0.88
R3937:Sema6d UTSW 2 124,498,770 (GRCm39) missense probably benign 0.00
R4135:Sema6d UTSW 2 124,506,040 (GRCm39) missense probably damaging 0.96
R4446:Sema6d UTSW 2 124,505,979 (GRCm39) missense probably damaging 0.98
R4583:Sema6d UTSW 2 124,506,082 (GRCm39) missense probably damaging 1.00
R4599:Sema6d UTSW 2 124,496,151 (GRCm39) missense probably damaging 1.00
R4822:Sema6d UTSW 2 124,504,214 (GRCm39) missense possibly damaging 0.79
R4884:Sema6d UTSW 2 124,498,738 (GRCm39) splice site probably null
R5288:Sema6d UTSW 2 124,506,166 (GRCm39) missense probably damaging 1.00
R5443:Sema6d UTSW 2 124,498,756 (GRCm39) missense probably damaging 1.00
R5504:Sema6d UTSW 2 124,499,941 (GRCm39) missense probably damaging 1.00
R5534:Sema6d UTSW 2 124,501,735 (GRCm39) missense possibly damaging 0.75
R5615:Sema6d UTSW 2 124,498,821 (GRCm39) missense probably damaging 0.97
R5747:Sema6d UTSW 2 124,506,867 (GRCm39) missense probably damaging 0.99
R5866:Sema6d UTSW 2 124,506,262 (GRCm39) missense probably benign 0.26
R5980:Sema6d UTSW 2 124,506,628 (GRCm39) missense probably damaging 1.00
R6670:Sema6d UTSW 2 124,496,762 (GRCm39) small deletion probably benign
R6803:Sema6d UTSW 2 124,505,970 (GRCm39) missense probably damaging 0.96
R7023:Sema6d UTSW 2 124,506,831 (GRCm39) missense probably damaging 1.00
R7068:Sema6d UTSW 2 124,499,741 (GRCm39) missense probably benign
R7426:Sema6d UTSW 2 124,496,078 (GRCm39) missense probably damaging 1.00
R7556:Sema6d UTSW 2 124,496,109 (GRCm39) missense probably damaging 1.00
R7569:Sema6d UTSW 2 124,499,892 (GRCm39) missense possibly damaging 0.92
R8427:Sema6d UTSW 2 124,507,197 (GRCm39) missense probably benign 0.25
R8690:Sema6d UTSW 2 124,506,937 (GRCm39) missense probably benign 0.07
R8711:Sema6d UTSW 2 124,502,232 (GRCm39) missense possibly damaging 0.54
R8757:Sema6d UTSW 2 124,497,134 (GRCm39) missense probably damaging 1.00
R8759:Sema6d UTSW 2 124,497,134 (GRCm39) missense probably damaging 1.00
R8868:Sema6d UTSW 2 124,496,114 (GRCm39) missense probably damaging 1.00
R9586:Sema6d UTSW 2 124,496,096 (GRCm39) missense probably damaging 1.00
R9731:Sema6d UTSW 2 124,506,117 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCAACAGGTGGGAACAAGC -3'
(R):5'- TATGGGCATTTGCAGAGCC -3'

Sequencing Primer
(F):5'- GTGGGAACAAGCAGAACCCC -3'
(R):5'- CAGGATAACATGTATTGGCCTCG -3'
Posted On 2022-07-18