Incidental Mutation 'R2366:Stx6'
ID 246315
Institutional Source Beutler Lab
Gene Symbol Stx6
Ensembl Gene ENSMUSG00000026470
Gene Name syntaxin 6
Synonyms 2310039E05Rik, 2410005I16Rik
MMRRC Submission 040347-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R2366 (G1)
Quality Score 152
Status Validated
Chromosome 1
Chromosomal Location 155034374-155083405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 155077706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 238 (I238L)
Ref Sequence ENSEMBL: ENSMUSP00000027743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027743] [ENSMUST00000193059] [ENSMUST00000195302]
AlphaFold Q9JKK1
Predicted Effect probably benign
Transcript: ENSMUST00000027743
AA Change: I238L

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027743
Gene: ENSMUSG00000026470
AA Change: I238L

DomainStartEndE-ValueType
Pfam:Syntaxin-6_N 5 103 1.9e-41 PFAM
t_SNARE 158 225 3.77e-15 SMART
transmembrane domain 235 254 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192690
Predicted Effect probably benign
Transcript: ENSMUST00000193059
SMART Domains Protein: ENSMUSP00000141976
Gene: ENSMUSG00000026470

DomainStartEndE-ValueType
Pfam:Syntaxin-6_N 5 103 4.2e-32 PFAM
low complexity region 156 175 N/A INTRINSIC
Blast:t_SNARE 176 199 5e-7 BLAST
PDB:2NPS|D 176 199 4e-8 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194158
Predicted Effect probably benign
Transcript: ENSMUST00000195302
SMART Domains Protein: ENSMUSP00000142089
Gene: ENSMUSG00000026470

DomainStartEndE-ValueType
Pfam:Syntaxin-6_N 5 103 5.1e-35 PFAM
t_SNARE 158 225 3.77e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195693
Meta Mutation Damage Score 0.3291 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630091E08Rik G A 7: 98,192,949 (GRCm39) noncoding transcript Het
Adamts5 C T 16: 85,659,646 (GRCm39) G882D probably damaging Het
Arl6ip6 T C 2: 53,082,379 (GRCm39) V82A probably benign Het
Brd10 A T 19: 29,731,035 (GRCm39) I726N probably damaging Het
Cd38 T G 5: 44,060,932 (GRCm39) probably benign Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Col6a6 C A 9: 105,632,893 (GRCm39) G1457V probably damaging Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Cyp2d12 T A 15: 82,439,355 (GRCm39) L3Q probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Drc1 A G 5: 30,523,894 (GRCm39) *754W probably null Het
Erbin G A 13: 103,981,417 (GRCm39) H503Y probably damaging Het
F3 G A 3: 121,526,194 (GRCm39) probably null Het
Gm10033 A T 8: 69,826,232 (GRCm39) M112K unknown Het
Gps1 A C 11: 120,678,945 (GRCm39) I404L probably damaging Het
Hc T C 2: 34,903,648 (GRCm39) N1002S probably benign Het
Impg2 T C 16: 56,080,236 (GRCm39) I571T probably benign Het
Knop1 C A 7: 118,451,751 (GRCm39) V323F possibly damaging Het
Kntc1 C T 5: 123,919,255 (GRCm39) L845F probably damaging Het
Lsm5 T C 6: 56,680,003 (GRCm39) D53G probably damaging Het
Lzts1 T C 8: 69,593,257 (GRCm39) probably null Het
Matr3 A T 18: 35,721,448 (GRCm39) N473I probably damaging Het
Med1 A G 11: 98,052,008 (GRCm39) V452A probably damaging Het
Napsa T A 7: 44,231,909 (GRCm39) D44E probably damaging Het
Nbeal1 T C 1: 60,290,511 (GRCm39) F1036S probably damaging Het
Ncapg2 G A 12: 116,384,349 (GRCm39) W270* probably null Het
Nherf1 G A 11: 115,054,454 (GRCm39) V35M probably benign Het
Or5af1 C A 11: 58,722,039 (GRCm39) Q20K probably benign Het
Pik3ca G A 3: 32,516,943 (GRCm39) W1057* probably null Het
Pkd1l2 A T 8: 117,770,056 (GRCm39) D1133E probably benign Het
Pramel39-ps T C 5: 94,450,972 (GRCm39) K385E probably benign Het
Prox1 T A 1: 189,894,079 (GRCm39) E122V probably damaging Het
Rest C A 5: 77,416,034 (GRCm39) H83N probably benign Het
Rundc3a A G 11: 102,288,491 (GRCm39) I68V probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqln3 C A 7: 103,790,256 (GRCm39) Q611H probably damaging Het
Usp6nl T A 2: 6,445,770 (GRCm39) H559Q probably benign Het
Vipr1 T G 9: 121,494,250 (GRCm39) V277G probably benign Het
Zfp101 A T 17: 33,599,972 (GRCm39) C595S probably benign Het
Zfp398 C T 6: 47,840,143 (GRCm39) T124I possibly damaging Het
Other mutations in Stx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Stx6 APN 1 155,077,679 (GRCm39) unclassified probably benign
IGL01414:Stx6 APN 1 155,077,691 (GRCm39) missense possibly damaging 0.85
IGL02376:Stx6 APN 1 155,077,725 (GRCm39) missense probably benign 0.39
IGL02415:Stx6 APN 1 155,069,059 (GRCm39) missense possibly damaging 0.68
R0276:Stx6 UTSW 1 155,049,909 (GRCm39) splice site probably benign
R0709:Stx6 UTSW 1 155,069,040 (GRCm39) missense probably damaging 1.00
R1218:Stx6 UTSW 1 155,077,737 (GRCm39) missense probably benign 0.39
R1484:Stx6 UTSW 1 155,053,650 (GRCm39) missense probably benign 0.05
R2389:Stx6 UTSW 1 155,073,164 (GRCm39) missense possibly damaging 0.96
R3125:Stx6 UTSW 1 155,034,654 (GRCm39) missense probably damaging 0.99
R4924:Stx6 UTSW 1 155,049,737 (GRCm39) missense probably damaging 1.00
R5642:Stx6 UTSW 1 155,073,925 (GRCm39) missense probably benign 0.00
R7369:Stx6 UTSW 1 155,073,130 (GRCm39) nonsense probably null
R8222:Stx6 UTSW 1 155,073,889 (GRCm39) missense possibly damaging 0.94
R9214:Stx6 UTSW 1 155,067,210 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTTTGAAGTGTAGCCCCAAGG -3'
(R):5'- CTCAAAGCTGGAGTCACAGAGG -3'

Sequencing Primer
(F):5'- CCAAGGCAGAACAGCACAGG -3'
(R):5'- CTGGAGTCACAGAGGAGGCG -3'
Posted On 2014-10-30