Incidental Mutation 'R0099:Ly6g6c'
ID 33174
Institutional Source Beutler Lab
Gene Symbol Ly6g6c
Ensembl Gene ENSMUSG00000092586
Gene Name lymphocyte antigen 6 family member G6C
Synonyms G6c, NG24, 1110003M04Rik
MMRRC Submission 038385-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R0099 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 17
Chromosomal Location 35286301-35289024 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35287891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 61 (V61A)
Ref Sequence ENSEMBL: ENSMUSP00000134194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007259] [ENSMUST00000097337] [ENSMUST00000173207] [ENSMUST00000174876] [ENSMUST00000173478] [ENSMUST00000174190]
AlphaFold Q9Z1Q4
Predicted Effect probably benign
Transcript: ENSMUST00000007259
SMART Domains Protein: ENSMUSP00000007259
Gene: ENSMUSG00000073413

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 121 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097337
SMART Domains Protein: ENSMUSP00000094950
Gene: ENSMUSG00000073414

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG 20 121 3.27e0 SMART
low complexity region 145 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173120
Predicted Effect probably damaging
Transcript: ENSMUST00000173207
AA Change: V61A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134194
Gene: ENSMUSG00000092586
AA Change: V61A

DomainStartEndE-ValueType
low complexity region 22 39 N/A INTRINSIC
Blast:LU 48 136 3e-57 BLAST
low complexity region 139 151 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000174876
AA Change: V35A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133838
Gene: ENSMUSG00000092586
AA Change: V35A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:LU 22 56 9e-18 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000173478
AA Change: V35A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133510
Gene: ENSMUSG00000092586
AA Change: V35A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:LU 22 110 2e-57 BLAST
low complexity region 113 125 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174190
SMART Domains Protein: ENSMUSP00000133377
Gene: ENSMUSG00000073414

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
IG 20 121 3.27e0 SMART
low complexity region 145 160 N/A INTRINSIC
low complexity region 168 180 N/A INTRINSIC
Meta Mutation Damage Score 0.1262 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018M24Rik C T 14: 51,134,179 (GRCm39) probably benign Het
Aadacl2fm1 A C 3: 59,843,856 (GRCm39) K183N probably benign Het
Acad10 A C 5: 121,759,353 (GRCm39) D1043E probably damaging Het
Adamtsl4 C T 3: 95,591,449 (GRCm39) G173R probably benign Het
Astn1 G T 1: 158,329,721 (GRCm39) S192I probably damaging Het
Atg2a T A 19: 6,302,819 (GRCm39) V1010E probably damaging Het
Col11a2 A G 17: 34,268,648 (GRCm39) E311G probably damaging Het
Col4a3 A C 1: 82,695,714 (GRCm39) E1638A probably benign Het
Cstf2t A G 19: 31,061,231 (GRCm39) R256G probably benign Het
Cyp4a12a T C 4: 115,183,869 (GRCm39) L225P probably damaging Het
Dnah5 G A 15: 28,240,080 (GRCm39) R479H probably damaging Het
Dsg3 A G 18: 20,673,079 (GRCm39) I917V probably benign Het
Fam76a G T 4: 132,638,098 (GRCm39) probably benign Het
Fras1 T A 5: 96,762,776 (GRCm39) probably null Het
Gli1 A G 10: 127,171,875 (GRCm39) V293A probably damaging Het
Gm10782 T A 13: 56,510,956 (GRCm39) noncoding transcript Het
Greb1l A G 18: 10,509,158 (GRCm39) E490G probably damaging Het
Hydin G A 8: 111,316,193 (GRCm39) G4362R probably damaging Het
Ica1 A T 6: 8,749,778 (GRCm39) probably benign Het
Ikzf4 T A 10: 128,470,066 (GRCm39) I485F probably damaging Het
Irf5 A G 6: 29,533,966 (GRCm39) T34A probably damaging Het
Krt81 A T 15: 101,361,402 (GRCm39) C59* probably null Het
Kynu T A 2: 43,519,065 (GRCm39) probably null Het
Manea A C 4: 26,328,104 (GRCm39) I312M probably damaging Het
Micall1 G T 15: 79,016,101 (GRCm39) probably benign Het
Mthfs A T 9: 89,108,216 (GRCm39) probably benign Het
Myh4 A G 11: 67,150,173 (GRCm39) T1877A probably benign Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Nepn A G 10: 52,277,181 (GRCm39) S306G probably damaging Het
Nol8 T C 13: 49,826,165 (GRCm39) V995A probably benign Het
Or5b101 A G 19: 13,005,165 (GRCm39) F176S probably damaging Het
Or5b105 T A 19: 13,080,504 (GRCm39) T49S probably benign Het
Or8a1b A T 9: 37,622,750 (GRCm39) V275E probably damaging Het
Or8g4 A G 9: 39,661,957 (GRCm39) I92V possibly damaging Het
Pde1a T A 2: 79,698,657 (GRCm39) probably null Het
Phf14 A G 6: 11,987,696 (GRCm39) probably benign Het
Plekhh2 C T 17: 84,899,100 (GRCm39) Q1026* probably null Het
Polr2b T A 5: 77,468,797 (GRCm39) probably benign Het
Ppp1r36 G T 12: 76,483,056 (GRCm39) probably null Het
Prdm14 A T 1: 13,189,169 (GRCm39) C392S probably damaging Het
Rabgap1l A G 1: 160,509,686 (GRCm39) S436P possibly damaging Het
Rfc2 A T 5: 134,624,135 (GRCm39) probably null Het
Rfx4 A T 10: 84,730,168 (GRCm39) M437L probably benign Het
Rgs17 T A 10: 5,792,583 (GRCm39) R74S probably benign Het
Rnf139 C A 15: 58,771,264 (GRCm39) L430I probably damaging Het
Sgsm1 C A 5: 113,422,226 (GRCm39) probably benign Het
Skint6 T A 4: 112,668,698 (GRCm39) T1126S possibly damaging Het
Slc15a2 T C 16: 36,573,398 (GRCm39) E602G probably damaging Het
Stpg2 T C 3: 138,948,954 (GRCm39) probably benign Het
Sycp2l T C 13: 41,283,001 (GRCm39) probably benign Het
Tlr11 A T 14: 50,598,275 (GRCm39) N87I probably benign Het
Tril A G 6: 53,795,348 (GRCm39) F625L probably damaging Het
Ube3c T A 5: 29,812,062 (GRCm39) V434E probably damaging Het
Usp34 G A 11: 23,313,111 (GRCm39) G533R probably damaging Het
Utp25 A G 1: 192,810,778 (GRCm39) L75P probably damaging Het
Zfp93 G T 7: 23,974,900 (GRCm39) R295L probably benign Het
Other mutations in Ly6g6c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03047:Ly6g6c UTSW 17 35,288,325 (GRCm39) splice site probably null
R4876:Ly6g6c UTSW 17 35,288,416 (GRCm39) missense probably damaging 1.00
R5041:Ly6g6c UTSW 17 35,284,428 (GRCm39) critical splice donor site probably null
R6811:Ly6g6c UTSW 17 35,288,386 (GRCm39) missense probably damaging 1.00
R7078:Ly6g6c UTSW 17 35,288,437 (GRCm39) missense probably damaging 1.00
R7208:Ly6g6c UTSW 17 35,286,387 (GRCm39) missense unknown
R8092:Ly6g6c UTSW 17 35,287,867 (GRCm39) missense probably damaging 1.00
R9397:Ly6g6c UTSW 17 35,288,317 (GRCm39) missense probably benign 0.08
X0062:Ly6g6c UTSW 17 35,288,332 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- CTGTCTCTGAACAGAGCAGGTGTG -3'
(R):5'- TTTCGTTGAAGACCTCCCGACAAG -3'

Sequencing Primer
(F):5'- TGTGAGGCACTGACTGC -3'
(R):5'- ACATCTTCCCTAGAGGCAGG -3'
Posted On 2013-05-09