Incidental Mutation 'IGL03134:Stxbp4'
ID 453181
Institutional Source Beutler Lab
Gene Symbol Stxbp4
Ensembl Gene ENSMUSG00000020546
Gene Name syntaxin binding protein 4
Synonyms 6030470M02Rik, Synip
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03134 (G1)
Quality Score 79
Status Validated
Chromosome 11
Chromosomal Location 90367318-90528910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 90498010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 96 (R96S)
Ref Sequence ENSEMBL: ENSMUSP00000116191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020858] [ENSMUST00000107872] [ENSMUST00000107875] [ENSMUST00000143203]
AlphaFold Q9WV89
Predicted Effect probably damaging
Transcript: ENSMUST00000020858
AA Change: R96S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020858
Gene: ENSMUSG00000020546
AA Change: R96S

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
coiled coil region 298 409 N/A INTRINSIC
low complexity region 504 522 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107872
AA Change: R96S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103504
Gene: ENSMUSG00000020546
AA Change: R96S

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107875
AA Change: R96S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103507
Gene: ENSMUSG00000020546
AA Change: R96S

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000143203
AA Change: R96S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546
AA Change: R96S

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
coiled coil region 298 409 N/A INTRINSIC
WW 501 533 1.11e-10 SMART
Meta Mutation Damage Score 0.1608 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414J04Rik A T 11: 21,457,249 (GRCm39) noncoding transcript Het
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Afdn C T 17: 14,066,548 (GRCm39) T580I probably benign Het
Ankfy1 G T 11: 72,603,011 (GRCm39) L13F probably damaging Het
Arhgap12 T C 18: 6,111,936 (GRCm39) T143A probably benign Het
Arsi T G 18: 61,050,424 (GRCm39) W436G probably damaging Het
Bcl2l10 C T 9: 75,255,480 (GRCm39) T99M probably damaging Het
Cacna1a A G 8: 85,285,716 (GRCm39) Q740R probably damaging Het
Cacna1g A G 11: 94,350,651 (GRCm39) F398S probably damaging Het
Ccrl2 A C 9: 110,884,725 (GRCm39) Y258D probably damaging Het
Cemip T A 7: 83,648,445 (GRCm39) D38V probably damaging Het
Chd6 C G 2: 160,807,403 (GRCm39) C1937S possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Col1a2 T G 6: 4,521,387 (GRCm39) probably benign Het
Col4a1 T C 8: 11,290,069 (GRCm39) probably null Het
Cops7b T A 1: 86,520,056 (GRCm39) L69Q probably damaging Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Ddx3y T A Y: 1,278,949 (GRCm39) D163V possibly damaging Het
Dnajc19 A G 3: 34,132,884 (GRCm39) probably benign Het
Fhip2b T C 14: 70,826,149 (GRCm39) T288A possibly damaging Het
G2e3 T A 12: 51,410,813 (GRCm39) probably benign Het
Gimap7 A G 6: 48,700,435 (GRCm39) N7S probably benign Het
Gkap1 G A 13: 58,411,746 (GRCm39) probably benign Het
Gm3404 G A 5: 146,463,706 (GRCm39) R117Q probably benign Het
Herc1 T TN 9: 66,341,345 (GRCm39) probably benign Homo
Homer3 T C 8: 70,738,985 (GRCm39) Y115H probably benign Het
Ighv10-1 T A 12: 114,442,689 (GRCm39) M99L probably benign Het
Kdm2b A C 5: 123,070,737 (GRCm39) S398R probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mettl25 G A 10: 105,661,888 (GRCm39) Q361* probably null Het
Mkrn2 T A 6: 115,590,496 (GRCm39) I284N probably damaging Het
Mmp14 T A 14: 54,676,563 (GRCm39) N369K probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Myo6 C G 9: 80,199,749 (GRCm39) N1019K probably damaging Het
Myo7a C T 7: 97,705,974 (GRCm39) V1857I probably damaging Het
Nhsl3 A G 4: 129,116,280 (GRCm39) S783P possibly damaging Het
Nktr T C 9: 121,575,532 (GRCm39) S347P probably damaging Het
Nup210 T G 6: 91,007,172 (GRCm39) D548A probably damaging Het
Nup210l A G 3: 90,098,194 (GRCm39) Y1382C possibly damaging Het
Or14c41 G A 7: 86,235,220 (GRCm39) V246M probably damaging Het
Or1e23 T A 11: 73,407,941 (GRCm39) Y28F probably benign Het
Pax8 T C 2: 24,311,403 (GRCm39) probably benign Het
Pcdhgb7 A G 18: 37,884,935 (GRCm39) Y35C probably damaging Het
Pld1 A T 3: 28,083,316 (GRCm39) R145S probably benign Het
Pom121 G A 5: 135,410,935 (GRCm39) P741S unknown Het
Rarb T C 14: 16,436,910 (GRCm38) N204D probably damaging Het
Sdc3 A G 4: 130,548,815 (GRCm39) E337G probably benign Het
Serpina9 T C 12: 103,967,696 (GRCm39) K233R probably null Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sspo T A 6: 48,427,999 (GRCm39) M159K probably benign Het
Tg A C 15: 66,612,567 (GRCm39) E375A probably damaging Het
Tmem176b A G 6: 48,815,287 (GRCm39) V2A probably benign Het
Toporsl G A 4: 52,610,281 (GRCm39) C58Y probably damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Vav3 T C 3: 109,470,410 (GRCm39) probably benign Het
Zfp180 T A 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Zfp407 C T 18: 84,228,080 (GRCm39) S1843N probably damaging Het
Other mutations in Stxbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:Stxbp4 APN 11 90,426,338 (GRCm39) missense probably benign 0.00
IGL01312:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL01313:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL01314:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL01316:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL01377:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL01380:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL01385:Stxbp4 APN 11 90,431,074 (GRCm39) missense possibly damaging 0.95
IGL01408:Stxbp4 APN 11 90,512,475 (GRCm39) splice site probably benign
IGL02573:Stxbp4 APN 11 90,431,095 (GRCm39) missense probably damaging 0.99
IGL02707:Stxbp4 APN 11 90,428,759 (GRCm39) missense probably benign 0.00
IGL02809:Stxbp4 APN 11 90,491,010 (GRCm39) critical splice donor site probably null
IGL02900:Stxbp4 APN 11 90,497,861 (GRCm39) missense probably benign 0.03
IGL03177:Stxbp4 APN 11 90,462,579 (GRCm39) missense probably benign 0.01
IGL03397:Stxbp4 APN 11 90,431,060 (GRCm39) missense probably damaging 1.00
IGL02799:Stxbp4 UTSW 11 90,385,426 (GRCm39) critical splice donor site probably null
R0005:Stxbp4 UTSW 11 90,439,743 (GRCm39) missense possibly damaging 0.78
R0487:Stxbp4 UTSW 11 90,483,186 (GRCm39) missense probably benign 0.00
R0930:Stxbp4 UTSW 11 90,512,526 (GRCm39) start codon destroyed probably null 0.99
R1633:Stxbp4 UTSW 11 90,430,986 (GRCm39) splice site probably benign
R3785:Stxbp4 UTSW 11 90,426,441 (GRCm39) critical splice acceptor site probably null
R4359:Stxbp4 UTSW 11 90,385,470 (GRCm39) nonsense probably null
R4591:Stxbp4 UTSW 11 90,485,606 (GRCm39) missense probably benign 0.33
R4756:Stxbp4 UTSW 11 90,498,197 (GRCm39) missense probably damaging 1.00
R5095:Stxbp4 UTSW 11 90,439,801 (GRCm39) missense probably benign 0.00
R5870:Stxbp4 UTSW 11 90,428,782 (GRCm39) missense possibly damaging 0.89
R6268:Stxbp4 UTSW 11 90,431,027 (GRCm39) nonsense probably null
R6460:Stxbp4 UTSW 11 90,497,811 (GRCm39) missense probably benign 0.35
R6479:Stxbp4 UTSW 11 90,510,013 (GRCm39) missense probably damaging 0.99
R7139:Stxbp4 UTSW 11 90,497,835 (GRCm39) nonsense probably null
R7349:Stxbp4 UTSW 11 90,482,937 (GRCm39) splice site probably null
R7481:Stxbp4 UTSW 11 90,485,639 (GRCm39) missense possibly damaging 0.94
R7812:Stxbp4 UTSW 11 90,485,654 (GRCm39) missense probably damaging 1.00
R8903:Stxbp4 UTSW 11 90,426,267 (GRCm39) missense unknown
R9023:Stxbp4 UTSW 11 90,426,249 (GRCm39) missense unknown
R9100:Stxbp4 UTSW 11 90,426,320 (GRCm39) missense possibly damaging 0.77
V8831:Stxbp4 UTSW 11 90,371,497 (GRCm39) missense probably benign 0.34
Z1176:Stxbp4 UTSW 11 90,371,497 (GRCm39) missense probably benign 0.34
Z1177:Stxbp4 UTSW 11 90,490,972 (GRCm39) missense probably benign 0.01
Z1177:Stxbp4 UTSW 11 90,483,157 (GRCm39) critical splice donor site probably null
Z1177:Stxbp4 UTSW 11 90,371,497 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- AAGTGGAGTCCTGAGTCTGG -3'
(R):5'- AAGCCAGGAGATCAACTTGTC -3'

Sequencing Primer
(F):5'- AGTCTGGGGAGTGGATGAAGTC -3'
(R):5'- GCATAATTACCAGAGCCAAGTTG -3'
Posted On 2017-01-30