Incidental Mutation 'R4822:Stx8'
ID 371233
Institutional Source Beutler Lab
Gene Symbol Stx8
Ensembl Gene ENSMUSG00000020903
Gene Name syntaxin 8
Synonyms 1110002H11Rik, 4930571E13Rik, 0610007H08Rik
MMRRC Submission 042438-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4822 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 67857237-68097974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 67864099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 53 (V53G)
Ref Sequence ENSEMBL: ENSMUSP00000104315 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021285] [ENSMUST00000021286] [ENSMUST00000108675]
AlphaFold O88983
Predicted Effect probably benign
Transcript: ENSMUST00000021285
AA Change: V53G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021285
Gene: ENSMUSG00000020903
AA Change: V53G

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 benign
Transcript: ENSMUST00000021286
AA Change: V53G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021286
Gene: ENSMUSG00000020903
AA Change: V53G

DomainStartEndE-ValueType
low complexity region 47 63 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108675
AA Change: V53G

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104315
Gene: ENSMUSG00000020903
AA Change: V53G

DomainStartEndE-ValueType
low complexity region 47 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148642
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (101/103)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik C T 14: 70,393,907 (GRCm39) V243I probably benign Het
Acadvl C T 11: 69,902,010 (GRCm39) G485S probably benign Het
Acap3 T A 4: 155,986,908 (GRCm39) probably benign Het
Adamts19 A G 18: 59,023,356 (GRCm39) I250M probably damaging Het
Amacr T A 15: 10,983,496 (GRCm39) I102N probably damaging Het
Apob A G 12: 8,065,741 (GRCm39) T4237A probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bicd1 A T 6: 149,420,752 (GRCm39) probably benign Het
Caskin2 T A 11: 115,698,125 (GRCm39) E49V probably damaging Het
Cemip T A 7: 83,622,449 (GRCm39) I577F probably benign Het
Chrnb1 T C 11: 69,686,501 (GRCm39) S40G possibly damaging Het
Ctif C T 18: 75,654,632 (GRCm39) C298Y probably benign Het
Cul9 A C 17: 46,840,977 (GRCm39) H764Q probably benign Het
Cwf19l2 T A 9: 3,458,839 (GRCm39) C763S probably damaging Het
Dhx57 A T 17: 80,549,596 (GRCm39) probably null Het
Dnaaf10 T A 11: 17,177,165 (GRCm39) N174K probably damaging Het
Dnhd1 G A 7: 105,353,171 (GRCm39) D2775N probably benign Het
Enpp1 A T 10: 24,537,833 (GRCm39) M384K possibly damaging Het
Fat2 T C 11: 55,202,144 (GRCm39) N310S probably benign Het
Fbxw7 A T 3: 84,874,814 (GRCm39) Y232F possibly damaging Het
Fcamr T A 1: 130,740,423 (GRCm39) S281T possibly damaging Het
Gm10762 C T 2: 128,809,106 (GRCm39) W81* probably null Het
Gm5592 A G 7: 40,805,314 (GRCm39) probably benign Het
Gm5745 T C 9: 73,082,980 (GRCm39) noncoding transcript Het
Gm6185 G C 1: 161,040,824 (GRCm39) noncoding transcript Het
Hid1 T A 11: 115,246,125 (GRCm39) N382Y probably damaging Het
Hoxa10 A T 6: 52,209,569 (GRCm39) F68I probably damaging Het
Ift88 T A 14: 57,679,326 (GRCm39) probably null Het
Ighg2b A T 12: 113,270,011 (GRCm39) *336R probably null Het
Ighv7-2 A C 12: 113,875,892 (GRCm39) L37R probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnn3 G C 3: 89,574,596 (GRCm39) V703L possibly damaging Het
Kiz C A 2: 146,732,989 (GRCm39) S388R probably damaging Het
Klhl20 G A 1: 160,921,333 (GRCm39) Q41* probably null Het
Krt31 T C 11: 99,938,610 (GRCm39) I328V possibly damaging Het
Lama4 A T 10: 38,909,049 (GRCm39) I330L probably benign Het
Lipo2 A T 19: 33,723,151 (GRCm39) S213T probably benign Het
Lrsam1 A T 2: 32,816,804 (GRCm39) I723N probably damaging Het
Man2b2 G A 5: 36,972,865 (GRCm39) R550W probably damaging Het
Map4k5 A T 12: 69,888,758 (GRCm39) L224* probably null Het
Mast3 A G 8: 71,233,010 (GRCm39) S1101P probably damaging Het
Mertk A G 2: 128,643,225 (GRCm39) S875G probably benign Het
Mmel1 A G 4: 154,972,354 (GRCm39) M302V probably benign Het
Mrgpra3 T A 7: 47,239,716 (GRCm39) H70L possibly damaging Het
Myh3 T A 11: 66,979,836 (GRCm39) S592T probably benign Het
Nbeal2 T C 9: 110,465,383 (GRCm39) I451V possibly damaging Het
Nup155 T A 15: 8,158,010 (GRCm39) V489D possibly damaging Het
Obscn T A 11: 58,913,159 (GRCm39) T6300S probably benign Het
Oprm1 A G 10: 6,779,036 (GRCm39) I146V probably damaging Het
Or1ad1 T A 11: 50,875,910 (GRCm39) C127* probably null Het
Or1j4 A G 2: 36,740,888 (GRCm39) M277V probably benign Het
Or4k44 G T 2: 111,367,797 (GRCm39) T279K probably damaging Het
Or5ae1 A C 7: 84,565,634 (GRCm39) I216L possibly damaging Het
Otub1 A T 19: 7,181,794 (GRCm39) D27E probably damaging Het
Pik3ca T C 3: 32,492,131 (GRCm39) V243A probably benign Het
Pla2g12b G A 10: 59,252,336 (GRCm39) probably null Het
Plekha8 A G 6: 54,601,546 (GRCm39) D321G probably damaging Het
Pprc1 T C 19: 46,059,795 (GRCm39) probably benign Het
Prkdc A G 16: 15,468,576 (GRCm39) D129G possibly damaging Het
Rbms3 C T 9: 116,773,441 (GRCm39) probably benign Het
Rictor T A 15: 6,821,161 (GRCm39) V1495D probably benign Het
Rpl31-ps21 T C 5: 21,324,507 (GRCm39) noncoding transcript Het
Ryr3 A T 2: 112,483,090 (GRCm39) I4219N probably damaging Het
Sbf2 G A 7: 109,977,146 (GRCm39) probably benign Het
Scn10a C T 9: 119,467,738 (GRCm39) A801T probably damaging Het
Scn9a T A 2: 66,314,093 (GRCm39) Y1866F possibly damaging Het
Sec1 A C 7: 45,328,727 (GRCm39) Y107D probably damaging Het
Sema6d C T 2: 124,504,214 (GRCm39) T619M possibly damaging Het
Sh2b3 C A 5: 121,966,618 (GRCm39) probably benign Het
Slc2a4 A G 11: 69,837,413 (GRCm39) V44A probably damaging Het
Slc5a12 T C 2: 110,452,085 (GRCm39) I326T possibly damaging Het
Smarca5 T C 8: 81,435,309 (GRCm39) probably null Het
Smarcd2 A G 11: 106,157,357 (GRCm39) probably null Het
Snrpa1 A T 7: 65,719,321 (GRCm39) probably benign Het
Sptbn5 T G 2: 119,898,449 (GRCm39) K470Q probably benign Het
Stard9 T G 2: 120,526,422 (GRCm39) V893G possibly damaging Het
Sv2c A T 13: 96,122,457 (GRCm39) W440R probably damaging Het
Tcstv2a A T 13: 120,725,686 (GRCm39) T117S probably damaging Het
Tmem181a A T 17: 6,330,940 (GRCm39) I67F probably benign Het
Tmprss7 C T 16: 45,483,679 (GRCm39) C565Y probably damaging Het
Trafd1 A T 5: 121,516,561 (GRCm39) L109H probably damaging Het
Trpv4 A G 5: 114,768,083 (GRCm39) I422T possibly damaging Het
Usp24 T A 4: 106,273,244 (GRCm39) Y2210N probably damaging Het
Vmn1r236 A T 17: 21,507,202 (GRCm39) N107Y probably damaging Het
Vmn2r13 A T 5: 109,321,938 (GRCm39) I253K probably damaging Het
Vmn2r2 T A 3: 64,041,960 (GRCm39) I252F probably damaging Het
Vsig8 A G 1: 172,387,205 (GRCm39) D27G probably damaging Het
Wiz A T 17: 32,575,411 (GRCm39) Y908* probably null Het
Wnk1 A T 6: 119,939,399 (GRCm39) S1113T probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp691 G T 4: 119,027,764 (GRCm39) T156K probably damaging Het
Zfp791 A T 8: 85,837,035 (GRCm39) D276E probably benign Het
Other mutations in Stx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02679:Stx8 APN 11 67,860,598 (GRCm39) missense probably damaging 1.00
IGL02860:Stx8 APN 11 67,875,391 (GRCm39) missense probably damaging 1.00
IGL03084:Stx8 APN 11 67,911,782 (GRCm39) nonsense probably null
R0574:Stx8 UTSW 11 67,864,078 (GRCm39) missense probably damaging 0.99
R0599:Stx8 UTSW 11 68,000,188 (GRCm39) missense probably null 0.26
R1696:Stx8 UTSW 11 67,902,248 (GRCm39) missense probably damaging 1.00
R1816:Stx8 UTSW 11 67,902,152 (GRCm39) missense possibly damaging 0.95
R1928:Stx8 UTSW 11 68,000,106 (GRCm39) missense probably damaging 0.98
R2352:Stx8 UTSW 11 67,864,077 (GRCm39) missense probably benign 0.02
R5485:Stx8 UTSW 11 67,911,792 (GRCm39) missense probably benign 0.00
R7673:Stx8 UTSW 11 67,875,465 (GRCm39) missense probably benign 0.29
R7722:Stx8 UTSW 11 68,094,544 (GRCm39) missense probably damaging 1.00
R7832:Stx8 UTSW 11 68,000,106 (GRCm39) missense probably damaging 1.00
R7852:Stx8 UTSW 11 67,860,611 (GRCm39) missense probably damaging 0.99
R8343:Stx8 UTSW 11 67,911,814 (GRCm39) missense probably benign 0.14
R9048:Stx8 UTSW 11 67,902,211 (GRCm39) missense probably damaging 1.00
R9171:Stx8 UTSW 11 67,875,471 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- AGGTTGCCATGAACAGGCAG -3'
(R):5'- ACAGTGTGGAAACCAAGTCC -3'

Sequencing Primer
(F):5'- TGCACTATGGGTACAAGCTC -3'
(R):5'- GTCCTCCTTGAGCTGTGGAAAAATC -3'
Posted On 2016-03-01