Incidental Mutation 'R5534:Sema6d'
ID 434685
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
MMRRC Submission 043092-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5534 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 123931889-124509690 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124501735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 526 (I526T)
Ref Sequence ENSEMBL: ENSMUSP00000099531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051419] [ENSMUST00000076335] [ENSMUST00000077847] [ENSMUST00000078621] [ENSMUST00000103238] [ENSMUST00000103239] [ENSMUST00000103240] [ENSMUST00000103241]
AlphaFold Q76KF0
Predicted Effect possibly damaging
Transcript: ENSMUST00000051419
AA Change: I526T

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000061123
Gene: ENSMUSG00000027200
AA Change: I526T

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 possibly damaging
Transcript: ENSMUST00000076335
AA Change: I526T

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000075674
Gene: ENSMUSG00000027200
AA Change: I526T

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 possibly damaging
Transcript: ENSMUST00000077847
AA Change: I526T

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000077014
Gene: ENSMUSG00000027200
AA Change: I526T

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 possibly damaging
Transcript: ENSMUST00000078621
AA Change: I526T

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000077691
Gene: ENSMUSG00000027200
AA Change: I526T

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 possibly damaging
Transcript: ENSMUST00000103238
AA Change: I526T

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099528
Gene: ENSMUSG00000027200
AA Change: I526T

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 possibly damaging
Transcript: ENSMUST00000103239
AA Change: I526T

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099529
Gene: ENSMUSG00000027200
AA Change: I526T

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 benign
Transcript: ENSMUST00000103240
AA Change: I526T

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099530
Gene: ENSMUSG00000027200
AA Change: I526T

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 possibly damaging
Transcript: ENSMUST00000103241
AA Change: I526T

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099531
Gene: ENSMUSG00000027200
AA Change: I526T

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 noncoding transcript
Transcript: ENSMUST00000132088
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 94.9%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T A 8: 25,155,530 (GRCm39) D163V probably benign Het
Ank2 A T 3: 126,740,947 (GRCm39) probably benign Het
Ankmy1 T C 1: 92,814,442 (GRCm39) E355G probably damaging Het
Ankmy2 A G 12: 36,232,491 (GRCm39) N172S probably damaging Het
Ankrd50 A G 3: 38,510,231 (GRCm39) M712T probably damaging Het
Apcdd1 T C 18: 63,070,105 (GRCm39) I124T probably benign Het
Carmil3 A G 14: 55,732,347 (GRCm39) K256R probably damaging Het
Cass4 G T 2: 172,268,688 (GRCm39) V259L probably benign Het
Ccdc141 A G 2: 76,888,241 (GRCm39) V508A probably benign Het
Ccdc33 A G 9: 58,024,450 (GRCm39) S226P possibly damaging Het
Cep72 T C 13: 74,210,335 (GRCm39) E9G probably benign Het
Clca4b A T 3: 144,621,227 (GRCm39) Y616N probably damaging Het
Cnot4 A G 6: 35,054,939 (GRCm39) S117P possibly damaging Het
Col11a2 C T 17: 34,269,998 (GRCm39) A429V probably damaging Het
Col4a4 T C 1: 82,465,238 (GRCm39) E979G unknown Het
Coq10b T C 1: 55,103,359 (GRCm39) Y46H possibly damaging Het
Cplane1 C A 15: 8,258,319 (GRCm39) F2188L probably benign Het
Dnah17 T C 11: 117,943,596 (GRCm39) T3169A possibly damaging Het
Dock6 G A 9: 21,714,372 (GRCm39) R1824* probably null Het
Dsp A C 13: 38,379,818 (GRCm39) I1589L probably benign Het
Edil3 A G 13: 89,347,593 (GRCm39) T383A probably benign Het
Efemp1 T C 11: 28,817,758 (GRCm39) V79A probably damaging Het
Esyt1 C T 10: 128,355,329 (GRCm39) V471I probably benign Het
Fbxo30 T C 10: 11,165,409 (GRCm39) S44P possibly damaging Het
Fdx2 G T 9: 20,984,562 (GRCm39) D57E probably benign Het
Gbp11 A T 5: 105,478,904 (GRCm39) V178D probably damaging Het
Gna11 A T 10: 81,366,967 (GRCm39) I283N probably damaging Het
Grid2 A T 6: 63,480,345 (GRCm39) Q53L probably benign Het
Jmjd6 A G 11: 116,731,252 (GRCm39) S266P probably damaging Het
Kirrel1 G A 3: 86,997,825 (GRCm39) R233C probably damaging Het
Kmt2d A G 15: 98,735,238 (GRCm39) probably benign Het
Lama3 A T 18: 12,686,267 (GRCm39) T1171S probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Med13 A T 11: 86,210,191 (GRCm39) S650R probably benign Het
Meltf T A 16: 31,709,632 (GRCm39) probably null Het
Mgat1 T C 11: 49,151,976 (GRCm39) V153A probably benign Het
Mmp16 A T 4: 18,110,452 (GRCm39) D416V probably damaging Het
Myh3 A T 11: 66,987,870 (GRCm39) R1448W probably damaging Het
Nedd1 A T 10: 92,530,894 (GRCm39) F398L probably benign Het
Or2a14 A G 6: 43,130,567 (GRCm39) I109M probably benign Het
Or4k45 T C 2: 111,395,349 (GRCm39) T147A probably benign Het
Or5ac17 T C 16: 59,036,403 (GRCm39) D191G probably benign Het
Or5g9 T C 2: 85,552,331 (GRCm39) I194T probably benign Het
Otud3 A G 4: 138,624,894 (GRCm39) L269P probably damaging Het
Otx1 A G 11: 21,946,296 (GRCm39) probably benign Het
Pcdhga7 A C 18: 37,849,331 (GRCm39) D446A probably damaging Het
Pcnx2 T G 8: 126,564,754 (GRCm39) K1046N possibly damaging Het
Pfkp C A 13: 6,698,619 (GRCm39) G33W probably damaging Het
Poglut2 C T 1: 44,151,837 (GRCm39) V351M probably damaging Het
Pold1 A G 7: 44,188,043 (GRCm39) I585T probably damaging Het
Pole4 A G 6: 82,629,115 (GRCm39) Y84H possibly damaging Het
Pramel26 G T 4: 143,539,169 (GRCm39) S108* probably null Het
Ptpn23 A G 9: 110,221,809 (GRCm39) S126P possibly damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rin3 T C 12: 102,353,891 (GRCm39) L766P probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rras2 G A 7: 113,649,650 (GRCm39) T138I possibly damaging Het
Scrn2 A G 11: 96,921,751 (GRCm39) I74V probably benign Het
Shd G T 17: 56,278,577 (GRCm39) E47* probably null Het
Slc22a27 T C 19: 7,903,996 (GRCm39) H47R probably damaging Het
Slc36a3 C G 11: 55,033,595 (GRCm39) W141S possibly damaging Het
Slc9c1 T A 16: 45,376,977 (GRCm39) V429E probably benign Het
Smg8 A T 11: 86,976,296 (GRCm39) D428E probably benign Het
Snrpe A T 1: 133,534,211 (GRCm39) F84Y probably benign Het
Tbc1d2b C T 9: 90,109,559 (GRCm39) D306N possibly damaging Het
Trav9n-4 A G 14: 53,532,356 (GRCm39) Y70C probably damaging Het
Tut7 A G 13: 59,936,367 (GRCm39) F843L probably damaging Het
Ush1c A G 7: 45,870,847 (GRCm39) I330T probably damaging Het
Wnt11 T C 7: 98,488,349 (GRCm39) L12P probably damaging Het
Zan A G 5: 137,436,713 (GRCm39) S2047P unknown Het
Zfp763 A C 17: 33,240,768 (GRCm39) S20R 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
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
R9511:Sema6d UTSW 2 124,499,943 (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'- ATACGTGGCCTTCTCTAGCTG -3'
(R):5'- TTCACAATCTACTGCCCTCAAG -3'

Sequencing Primer
(F):5'- GCCTTCTCTAGCTGCGTGG -3'
(R):5'- GGGTCACTCTCTCACAAA -3'
Posted On 2016-10-24