Incidental Mutation 'IGL02852:Sema6c'
ID 361957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sema6c
Ensembl Gene ENSMUSG00000038777
Gene Name sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C
Synonyms Sema Y, Semay
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # IGL02852
Quality Score
Status
Chromosome 3
Chromosomal Location 95067768-95081335 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 95077295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090821] [ENSMUST00000090823] [ENSMUST00000107217] [ENSMUST00000131620] [ENSMUST00000204709] [ENSMUST00000168321] [ENSMUST00000202315] [ENSMUST00000142449]
AlphaFold Q9WTM3
Predicted Effect probably benign
Transcript: ENSMUST00000090821
SMART Domains Protein: ENSMUSP00000088331
Gene: ENSMUSG00000038777

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Sema 62 488 2.55e-165 SMART
transmembrane domain 604 626 N/A INTRINSIC
low complexity region 627 638 N/A INTRINSIC
low complexity region 646 658 N/A INTRINSIC
low complexity region 660 669 N/A INTRINSIC
low complexity region 693 709 N/A INTRINSIC
low complexity region 744 761 N/A INTRINSIC
low complexity region 907 924 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090823
SMART Domains Protein: ENSMUSP00000088333
Gene: ENSMUSG00000038777

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Sema 62 488 2.55e-165 SMART
low complexity region 591 603 N/A INTRINSIC
transmembrane domain 636 658 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
low complexity region 678 690 N/A INTRINSIC
low complexity region 692 701 N/A INTRINSIC
low complexity region 725 741 N/A INTRINSIC
low complexity region 776 793 N/A INTRINSIC
low complexity region 939 956 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107217
SMART Domains Protein: ENSMUSP00000102835
Gene: ENSMUSG00000038777

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Sema 62 448 1.23e-126 SMART
low complexity region 551 563 N/A INTRINSIC
transmembrane domain 596 618 N/A INTRINSIC
low complexity region 619 630 N/A INTRINSIC
low complexity region 638 650 N/A INTRINSIC
low complexity region 652 661 N/A INTRINSIC
low complexity region 685 701 N/A INTRINSIC
low complexity region 736 753 N/A INTRINSIC
low complexity region 899 916 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130662
Predicted Effect probably benign
Transcript: ENSMUST00000131620
SMART Domains Protein: ENSMUSP00000138154
Gene: ENSMUSG00000038777

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204709
SMART Domains Protein: ENSMUSP00000144702
Gene: ENSMUSG00000038777

DomainStartEndE-ValueType
low complexity region 10 20 N/A INTRINSIC
PDB:3OKY|B 25 117 8e-8 PDB
Blast:Sema 62 119 9e-34 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000168321
SMART Domains Protein: ENSMUSP00000129081
Gene: ENSMUSG00000038777

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Sema 62 488 2.55e-165 SMART
transmembrane domain 604 626 N/A INTRINSIC
low complexity region 627 638 N/A INTRINSIC
low complexity region 646 658 N/A INTRINSIC
low complexity region 660 669 N/A INTRINSIC
low complexity region 693 709 N/A INTRINSIC
low complexity region 744 761 N/A INTRINSIC
low complexity region 907 924 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202315
SMART Domains Protein: ENSMUSP00000144039
Gene: ENSMUSG00000038777

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Sema 62 488 2.55e-165 SMART
transmembrane domain 604 626 N/A INTRINSIC
low complexity region 627 638 N/A INTRINSIC
low complexity region 646 658 N/A INTRINSIC
low complexity region 660 669 N/A INTRINSIC
low complexity region 693 709 N/A INTRINSIC
low complexity region 744 761 N/A INTRINSIC
low complexity region 907 924 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134125
Predicted Effect probably benign
Transcript: ENSMUST00000142449
SMART Domains Protein: ENSMUSP00000123457
Gene: ENSMUSG00000038777

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Sema 62 488 2.55e-165 SMART
low complexity region 591 603 N/A INTRINSIC
transmembrane domain 636 658 N/A INTRINSIC
low complexity region 659 670 N/A INTRINSIC
low complexity region 678 690 N/A INTRINSIC
low complexity region 692 701 N/A INTRINSIC
low complexity region 725 741 N/A INTRINSIC
low complexity region 776 793 N/A INTRINSIC
low complexity region 939 956 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141607
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the semaphorin family. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a targeted mutation display a decrease in pain threshold. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcar1 A T 8: 112,441,979 (GRCm39) L287* probably null Het
Birc2 A G 9: 7,854,484 (GRCm39) I402T probably damaging Het
Btrc T A 19: 45,501,095 (GRCm39) L153* probably null Het
C2cd3 T C 7: 100,079,396 (GRCm39) F1245L probably damaging Het
Cabp7 C T 11: 4,688,912 (GRCm39) R186H probably damaging Het
Cdk5r2 T C 1: 74,895,298 (GRCm39) S348P probably benign Het
Cfhr4 T C 1: 139,701,754 (GRCm39) Y120C probably damaging Het
Clca3a2 T C 3: 144,512,104 (GRCm39) D544G probably damaging Het
Col6a6 A C 9: 105,661,272 (GRCm39) I279S probably damaging Het
Csmd1 T A 8: 15,945,728 (GRCm39) T3562S probably damaging Het
Dgkd T C 1: 87,863,135 (GRCm39) S61P probably damaging Het
Dph5 T A 3: 115,722,320 (GRCm39) M266K possibly damaging Het
Gm14226 G A 2: 154,866,841 (GRCm39) S266N possibly damaging Het
Gm28047 A G 15: 102,446,653 (GRCm39) V400A possibly damaging Het
Gucy1a2 A G 9: 3,759,691 (GRCm39) D499G probably benign Het
Hoxb7 C T 11: 96,180,320 (GRCm39) T173M possibly damaging Het
Kcnn3 T A 3: 89,516,923 (GRCm39) I444N probably damaging Het
Kif1b A G 4: 149,375,785 (GRCm39) I27T probably damaging Het
Krtap8-1 A G 16: 89,284,753 (GRCm39) Y15H probably benign Het
Myo18b C T 5: 112,863,377 (GRCm39) V2154I probably benign Het
Pcdhb3 A G 18: 37,435,150 (GRCm39) D372G probably damaging Het
Pfkp G T 13: 6,655,059 (GRCm39) P340Q possibly damaging Het
Plcd3 C T 11: 102,964,631 (GRCm39) R580Q probably damaging Het
Pou5f2 G A 13: 78,173,178 (GRCm39) R40Q probably benign Het
Ppara G T 15: 85,682,079 (GRCm39) M258I probably benign Het
Proc A G 18: 32,258,208 (GRCm39) S246P probably damaging Het
Ptpn21 T C 12: 98,681,454 (GRCm39) probably null Het
Ripor2 T C 13: 24,879,681 (GRCm39) F383S probably damaging Het
Rnf39 T C 17: 37,256,094 (GRCm39) probably benign Het
Slc16a5 A G 11: 115,360,405 (GRCm39) E196G probably benign Het
Slco1c1 T A 6: 141,493,550 (GRCm39) L313* probably null Het
Slit2 T C 5: 48,402,014 (GRCm39) F789S probably damaging Het
Spta1 A G 1: 174,071,676 (GRCm39) M2219V probably benign Het
Sqle A T 15: 59,197,920 (GRCm39) H380L probably damaging Het
Tek T C 4: 94,743,561 (GRCm39) Y859H probably damaging Het
Trcg1 A T 9: 57,148,595 (GRCm39) T56S possibly damaging Het
Ttc23 T A 7: 67,316,903 (GRCm39) probably benign Het
Ttn A G 2: 76,774,648 (GRCm39) probably benign Het
Uba1y C T Y: 828,841 (GRCm39) R550* probably null Het
Ubqln4 T C 3: 88,462,778 (GRCm39) V81A probably damaging Het
Ugt2b38 C T 5: 87,559,600 (GRCm39) E431K probably benign Het
Vmn1r85 T G 7: 12,819,010 (GRCm39) I45L possibly damaging Het
Vmn2r68 T G 7: 84,882,595 (GRCm39) S386R probably damaging Het
Washc4 A G 10: 83,419,173 (GRCm39) T902A possibly damaging Het
Zc3h15 G A 2: 83,475,015 (GRCm39) A7T possibly damaging Het
Zdhhc19 A C 16: 32,316,460 (GRCm39) T72P probably damaging Het
Zfp729a A T 13: 67,768,070 (GRCm39) S720T possibly damaging Het
Zfp729b T C 13: 67,740,942 (GRCm39) K441R probably damaging Het
Zfy2 C T Y: 2,106,894 (GRCm39) G580D probably benign Het
Zfy2 T A Y: 2,117,188 (GRCm39) H213L probably benign Het
Other mutations in Sema6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01547:Sema6c APN 3 95,079,709 (GRCm39) missense probably damaging 1.00
IGL01631:Sema6c APN 3 95,077,714 (GRCm39) missense probably benign 0.10
IGL01799:Sema6c APN 3 95,078,142 (GRCm39) missense probably damaging 1.00
IGL02237:Sema6c APN 3 95,077,430 (GRCm39) missense probably damaging 1.00
IGL02874:Sema6c APN 3 95,077,688 (GRCm39) missense probably damaging 1.00
IGL03003:Sema6c APN 3 95,076,925 (GRCm39) missense probably damaging 1.00
BB005:Sema6c UTSW 3 95,079,620 (GRCm39) missense probably damaging 1.00
BB015:Sema6c UTSW 3 95,079,620 (GRCm39) missense probably damaging 1.00
PIT4418001:Sema6c UTSW 3 95,077,401 (GRCm39) missense possibly damaging 0.57
R0558:Sema6c UTSW 3 95,076,002 (GRCm39) missense probably damaging 1.00
R0582:Sema6c UTSW 3 95,076,508 (GRCm39) missense probably damaging 1.00
R0590:Sema6c UTSW 3 95,079,934 (GRCm39) missense probably damaging 1.00
R0685:Sema6c UTSW 3 95,080,021 (GRCm39) missense possibly damaging 0.46
R1056:Sema6c UTSW 3 95,078,527 (GRCm39) missense probably benign 0.15
R1721:Sema6c UTSW 3 95,078,099 (GRCm39) missense probably damaging 0.98
R1867:Sema6c UTSW 3 95,078,099 (GRCm39) missense probably damaging 0.98
R1868:Sema6c UTSW 3 95,078,124 (GRCm39) missense probably damaging 0.99
R2016:Sema6c UTSW 3 95,078,545 (GRCm39) missense probably benign 0.00
R2343:Sema6c UTSW 3 95,074,394 (GRCm39) missense probably damaging 1.00
R2898:Sema6c UTSW 3 95,080,129 (GRCm39) missense probably damaging 1.00
R4095:Sema6c UTSW 3 95,080,505 (GRCm39) missense probably benign 0.03
R4999:Sema6c UTSW 3 95,075,674 (GRCm39) missense probably damaging 1.00
R5263:Sema6c UTSW 3 95,080,463 (GRCm39) missense probably benign 0.02
R6914:Sema6c UTSW 3 95,080,519 (GRCm39) missense probably benign 0.00
R6942:Sema6c UTSW 3 95,080,519 (GRCm39) missense probably benign 0.00
R7104:Sema6c UTSW 3 95,076,156 (GRCm39) missense possibly damaging 0.95
R7524:Sema6c UTSW 3 95,074,371 (GRCm39) missense probably benign 0.20
R7724:Sema6c UTSW 3 95,080,510 (GRCm39) missense probably damaging 1.00
R7928:Sema6c UTSW 3 95,079,620 (GRCm39) missense probably damaging 1.00
R8045:Sema6c UTSW 3 95,080,535 (GRCm39) missense probably benign 0.27
R8243:Sema6c UTSW 3 95,079,916 (GRCm39) missense probably damaging 1.00
R8790:Sema6c UTSW 3 95,075,341 (GRCm39) missense probably benign 0.34
R9607:Sema6c UTSW 3 95,076,545 (GRCm39) missense probably benign 0.03
R9653:Sema6c UTSW 3 95,080,525 (GRCm39) missense probably benign 0.40
Z1177:Sema6c UTSW 3 95,075,639 (GRCm39) missense probably benign
Posted On 2015-12-18