Incidental Mutation 'IGL02860:Stx8'
ID362125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stx8
Ensembl Gene ENSMUSG00000020903
Gene Namesyntaxin 8
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02860
Quality Score
Status
Chromosome11
Chromosomal Location67966193-68207148 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 67984565 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 72 (T72K)
Ref Sequence ENSEMBL: ENSMUSP00000021285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021285] [ENSMUST00000021286]
Predicted Effect probably damaging
Transcript: ENSMUST00000021285
AA Change: T72K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021285
Gene: ENSMUSG00000020903
AA Change: T72K

DomainStartEndE-ValueType
low complexity region 47 63 N/A INTRINSIC
t_SNARE 140 207 2.77e-13 SMART
transmembrane domain 211 233 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000021286
AA Change: T72K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021286
Gene: ENSMUSG00000020903
AA Change: T72K

DomainStartEndE-ValueType
low complexity region 47 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129992
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in platelet dense granule secretion, aggregation, and thrombus stability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A T 9: 90,191,862 M832L probably benign Het
Cars A T 7: 143,586,421 D99E probably damaging Het
Ccdc112 A G 18: 46,287,442 F414L probably benign Het
Chst15 C T 7: 132,269,102 V235I probably benign Het
Dysf G T 6: 84,190,898 probably null Het
Elavl2 T C 4: 91,260,953 D174G probably damaging Het
Gapdhs T A 7: 30,729,883 probably null Het
Gnb1l G A 16: 18,552,535 G259R probably damaging Het
Ighv9-2 T G 12: 114,109,237 I39L possibly damaging Het
Kntc1 T A 5: 123,769,873 N474K possibly damaging Het
Lrrc8c T C 5: 105,579,615 probably benign Het
Lyn C T 4: 3,745,594 A131V possibly damaging Het
Mindy2 T C 9: 70,656,544 E168G probably damaging Het
Morc2a T C 11: 3,661,821 probably benign Het
Naip6 T C 13: 100,300,476 Q513R possibly damaging Het
Nell1 A T 7: 50,848,485 I597F probably damaging Het
Nudt12 T A 17: 59,010,435 R72S probably benign Het
Pan2 C T 10: 128,310,735 R414* probably null Het
Rb1 T C 14: 73,206,012 R768G probably damaging Het
Rps6ka2 A G 17: 7,282,856 E440G possibly damaging Het
Serpinb3a C T 1: 107,049,453 probably benign Het
Tecrl A G 5: 83,354,997 F2L probably benign Het
Tmem263 C T 10: 85,114,552 T69I probably damaging Het
Ttc39b T C 4: 83,263,746 N49D probably benign Het
Ttn A G 2: 76,717,015 L32229P probably damaging Het
Zfp358 T C 8: 3,496,074 F219L probably damaging Het
Other mutations in Stx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02679:Stx8 APN 11 67969772 missense probably damaging 1.00
IGL03084:Stx8 APN 11 68020956 nonsense probably null
R0574:Stx8 UTSW 11 67973252 missense probably damaging 0.99
R0599:Stx8 UTSW 11 68109362 missense probably null 0.26
R1696:Stx8 UTSW 11 68011422 missense probably damaging 1.00
R1816:Stx8 UTSW 11 68011326 missense possibly damaging 0.95
R1928:Stx8 UTSW 11 68109280 missense probably damaging 0.98
R2352:Stx8 UTSW 11 67973251 missense probably benign 0.02
R4822:Stx8 UTSW 11 67973273 missense possibly damaging 0.90
R5485:Stx8 UTSW 11 68020966 missense probably benign 0.00
R7673:Stx8 UTSW 11 67984639 missense probably benign 0.29
R7722:Stx8 UTSW 11 68203718 missense probably damaging 1.00
R7832:Stx8 UTSW 11 68109280 missense probably damaging 1.00
R7852:Stx8 UTSW 11 67969785 missense probably damaging 0.99
R8343:Stx8 UTSW 11 68020988 missense probably benign 0.14
Posted On2015-12-18