Incidental Mutation 'R8343:Stx8'
ID645033
Institutional Source Beutler Lab
Gene Symbol Stx8
Ensembl Gene ENSMUSG00000020903
Gene Namesyntaxin 8
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8343 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location67966193-68207148 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 68020988 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 177 (D177E)
Ref Sequence ENSEMBL: ENSMUSP00000021285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021285]
Predicted Effect probably benign
Transcript: ENSMUST00000021285
AA Change: D177E

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021285
Gene: ENSMUSG00000020903
AA Change: D177E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars T A 8: 111,040,729 W156R probably damaging Het
Acvr1 T A 2: 58,474,274 probably null Het
Adamts2 G T 11: 50,603,488 V130L probably damaging Het
Adcy4 C T 14: 55,775,240 V541I probably benign Het
Adgrl2 C T 3: 148,846,906 V654I probably damaging Het
Ago3 T A 4: 126,376,928 K258* probably null Het
Akap11 A T 14: 78,512,489 S819R Het
Alox5ap T C 5: 149,287,609 F121L probably damaging Het
Baz2b A T 2: 59,901,514 M2060K probably damaging Het
C030005K15Rik T C 10: 97,725,552 I106V unknown Het
Carmil2 T A 8: 105,691,084 S604T probably benign Het
Cdhr1 T C 14: 37,091,978 T164A probably benign Het
Dhx30 T C 9: 110,085,501 E976G possibly damaging Het
Dnah17 C T 11: 118,114,195 G788R probably benign Het
Dus2 T C 8: 105,996,013 probably benign Het
Etv6 T C 6: 134,248,754 V316A possibly damaging Het
Fabp9 T G 3: 10,194,025 K107T possibly damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,609,203 probably benign Het
Gapdh A G 6: 125,163,263 V92A probably benign Het
Gfy A G 7: 45,176,595 L453P probably damaging Het
Gm6588 C T 5: 112,450,787 T400I probably benign Het
Gp2 C T 7: 119,442,787 C505Y probably benign Het
Gtpbp8 T C 16: 44,746,313 R9G probably benign Het
Hipk4 G T 7: 27,523,608 R31L probably damaging Het
Htt T A 5: 34,905,724 M2900K probably damaging Het
Ighv1-20 T C 12: 114,724,190 I6V probably benign Het
Il17d C T 14: 57,542,480 T153I probably damaging Het
Izumo3 T A 4: 92,146,344 N117I probably damaging Het
Kcnh7 T C 2: 62,850,535 D236G probably benign Het
Kmt2d T C 15: 98,852,597 D2405G unknown Het
Map4k2 T C 19: 6,346,566 W533R probably damaging Het
Matn1 C A 4: 130,945,989 Y89* probably null Het
Mettl18 T A 1: 163,996,940 Y277N probably damaging Het
Muc5b G A 7: 141,864,161 G3615S probably benign Het
Myh4 T A 11: 67,252,564 S1041T possibly damaging Het
Myl10 G C 5: 136,697,971 V70L probably benign Het
Naaladl1 T C 19: 6,109,673 V378A possibly damaging Het
Nars T C 18: 64,504,387 D374G probably benign Het
Neurl1b A G 17: 26,431,991 Y79C probably damaging Het
Nynrin A G 14: 55,863,791 T306A probably benign Het
Ola1 G T 2: 73,199,401 R125S probably damaging Het
Olfr105-ps T A 17: 37,383,231 F221L probably benign Het
Olfr644 A T 7: 104,068,176 V285D probably damaging Het
Pak1ip1 C A 13: 41,004,738 T29K probably benign Het
Podnl1 T A 8: 84,130,773 L337H Het
Rictor T G 15: 6,778,319 probably null Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 probably benign Het
Sel1l2 T C 2: 140,230,833 I627M probably benign Het
Sh3rf2 T C 18: 42,111,428 S352P probably damaging Het
Slc6a6 G A 6: 91,726,243 W199* probably null Het
Smc2 T A 4: 52,450,965 V261E probably benign Het
Spdye4a T A 5: 143,225,807 M1L probably benign Het
Stag1 T C 9: 100,757,766 I125T possibly damaging Het
Sun2 T C 15: 79,738,924 Y71C probably damaging Het
Tmed9 T C 13: 55,594,804 F129L probably benign Het
Tmem216 T A 19: 10,551,972 T17S probably benign Het
Tmpo A T 10: 91,162,112 N604K probably benign Het
Tmprss11f T A 5: 86,533,807 I196F probably benign Het
Tnks A G 8: 34,834,584 F1244L probably benign Het
Tspan2 T C 3: 102,768,910 C212R probably damaging Het
Tspan4 A G 7: 141,491,805 D155G probably damaging Het
Ttc6 T C 12: 57,660,496 F730L possibly damaging Het
Txnrd2 G A 16: 18,426,541 A33T unknown Het
Uhrf1bp1l T C 10: 89,791,419 S449P probably benign Het
Wnk1 C T 6: 119,963,493 R761H probably damaging Het
Zfp217 T C 2: 170,120,104 D101G probably damaging Het
Zfp281 T C 1: 136,627,882 F866S probably damaging Het
Other mutations in Stx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02679:Stx8 APN 11 67969772 missense probably damaging 1.00
IGL02860:Stx8 APN 11 67984565 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
Predicted Primers PCR Primer
(F):5'- GTCAGTTGCCTGGAGAGATC -3'
(R):5'- ATAGGGGACTTTTGGGATAGCAATG -3'

Sequencing Primer
(F):5'- GAGAGATCTCCCTCTGCATGTG -3'
(R):5'- ACTTTTGGGATAGCAATGGAAATG -3'
Posted On2020-09-02