Incidental Mutation 'R4591:Stxbp4'
ID 342841
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 # R4591 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 90367318-90528910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90485606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 247 (V247A)
Ref Sequence ENSEMBL: ENSMUSP00000116191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020858] [ENSMUST00000107875] [ENSMUST00000143203]
AlphaFold Q9WV89
Predicted Effect probably benign
Transcript: ENSMUST00000020858
AA Change: V247A

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020858
Gene: ENSMUSG00000020546
AA Change: V247A

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 benign
Transcript: ENSMUST00000107875
SMART Domains Protein: ENSMUSP00000103507
Gene: ENSMUSG00000020546

DomainStartEndE-ValueType
PDZ 29 109 6.13e-10 SMART
low complexity region 131 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143203
AA Change: V247A

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116191
Gene: ENSMUSG00000020546
AA Change: V247A

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,599 (GRCm39) S187P possibly damaging Het
4932438H23Rik T C 16: 90,852,959 (GRCm39) N59S probably damaging Het
Abca15 A T 7: 119,981,636 (GRCm39) D1030V probably damaging Het
Acmsd A T 1: 127,676,934 (GRCm39) N153I probably damaging Het
Adprh C A 16: 38,266,345 (GRCm39) V266L probably benign Het
Aldh5a1 G A 13: 25,107,991 (GRCm39) P217S probably damaging Het
Alpk2 A T 18: 65,438,894 (GRCm39) L1300Q probably benign Het
Alyref C T 11: 120,486,799 (GRCm39) R154Q probably benign Het
Ano6 T A 15: 95,841,308 (GRCm39) C468* probably null Het
Aox3 A T 1: 58,191,815 (GRCm39) I456F probably damaging Het
Art4 A G 6: 136,831,755 (GRCm39) Y129H probably damaging Het
Asb16 C A 11: 102,167,551 (GRCm39) H306N probably damaging Het
Atp8a2 C A 14: 59,892,078 (GRCm39) R1090L probably benign Het
Brap G T 5: 121,800,113 (GRCm39) V1F probably null Het
C1qb C A 4: 136,609,528 (GRCm39) G31W probably damaging Het
Cacna2d4 T C 6: 119,275,425 (GRCm39) Y666H probably benign Het
Casr T C 16: 36,320,732 (GRCm39) N472S probably benign Het
Ccdc91 T G 6: 147,491,963 (GRCm39) S282A unknown Het
Cd300lg A G 11: 101,937,006 (GRCm39) T164A probably benign Het
Cd79b A T 11: 106,202,872 (GRCm39) D243E probably damaging Het
Cdh6 C A 15: 13,051,572 (GRCm39) V354F possibly damaging Het
Cdhr2 A G 13: 54,863,497 (GRCm39) N126S probably benign Het
Cep192 A T 18: 67,968,039 (GRCm39) N841I probably damaging Het
Cngb1 T C 8: 95,980,012 (GRCm39) T963A probably damaging Het
Col16a1 A G 4: 129,955,592 (GRCm39) probably null Het
Coro1a A G 7: 126,302,164 (GRCm39) V61A probably damaging Het
Crocc T A 4: 140,745,983 (GRCm39) D1712V probably damaging Het
Ddn T C 15: 98,705,687 (GRCm39) D3G possibly damaging Het
Dnal1 T C 12: 84,180,627 (GRCm39) F89S probably benign Het
Dusp3 T A 11: 101,864,446 (GRCm39) probably benign Het
Dyrk3 C A 1: 131,057,895 (GRCm39) G58C probably damaging Het
Fat1 T C 8: 45,479,279 (GRCm39) F2775S probably benign Het
Frk A G 10: 34,481,829 (GRCm39) N373S probably benign Het
Glmn A G 5: 107,708,917 (GRCm39) probably null Het
Gm11565 A T 11: 99,805,769 (GRCm39) T54S possibly damaging Het
Gm14410 A G 2: 176,885,820 (GRCm39) I148T possibly damaging Het
Gm21834 T A 17: 58,048,880 (GRCm39) H112L possibly damaging Het
Gm5862 A G 5: 26,224,486 (GRCm39) I161T possibly damaging Het
Grid2 G T 6: 64,297,086 (GRCm39) G483V probably damaging Het
Hfm1 A T 5: 106,995,533 (GRCm39) S1293T probably benign Het
Il1a G A 2: 129,148,447 (GRCm39) R88W probably damaging Het
Il20rb A T 9: 100,357,043 (GRCm39) V29D possibly damaging Het
Ilvbl C T 10: 78,419,139 (GRCm39) L463F probably benign Het
Kif17 A G 4: 138,005,110 (GRCm39) E225G probably benign Het
Lrp2 A G 2: 69,366,419 (GRCm39) F227L probably damaging Het
Lrrc43 A G 5: 123,639,227 (GRCm39) M419V probably benign Het
Magel2 A G 7: 62,030,837 (GRCm39) Q1247R unknown Het
Mamdc4 T A 2: 25,454,609 (GRCm39) M1068L possibly damaging Het
Mdn1 T G 4: 32,707,636 (GRCm39) S1642A probably damaging Het
Mtarc1 T C 1: 184,539,365 (GRCm39) E102G probably benign Het
Mtcl1 T C 17: 66,655,506 (GRCm39) E819G probably benign Het
Naa15 T C 3: 51,349,345 (GRCm39) L38P probably damaging Het
Nlrp3 A G 11: 59,440,048 (GRCm39) R542G probably benign Het
Or10c1 C T 17: 37,522,010 (GRCm39) V245I probably benign Het
Or4d2b A G 11: 87,780,375 (GRCm39) S116P probably benign Het
Or5ac19 A C 16: 59,089,776 (GRCm39) F85V possibly damaging Het
Or5b125-ps1 ACAC ACACGCAC 19: 13,056,266 (GRCm39) noncoding transcript Het
Pbxip1 T A 3: 89,353,467 (GRCm39) L249Q probably benign Het
Pla2g7 T C 17: 43,911,450 (GRCm39) S201P probably damaging Het
Psmd1 G T 1: 86,055,926 (GRCm39) V763F probably benign Het
Ptp4a2 A G 4: 129,740,308 (GRCm39) E124G probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rbks T A 5: 31,817,352 (GRCm39) K139M possibly damaging Het
Rgs22 T A 15: 36,100,282 (GRCm39) E268D probably benign Het
Slc16a9 T G 10: 70,118,710 (GRCm39) L343R probably damaging Het
Smagp T C 15: 100,519,860 (GRCm39) I55V probably damaging Het
Sox13 T C 1: 133,311,421 (GRCm39) S604G probably damaging Het
St6gal1 G T 16: 23,140,044 (GRCm39) V72F probably benign Het
Susd3 A T 13: 49,384,736 (GRCm39) M217K possibly damaging Het
Tas2r129 T A 6: 132,928,574 (GRCm39) N170K probably benign Het
Tmem245 C A 4: 56,910,204 (GRCm39) A515S probably damaging Het
Tpte T C 8: 22,817,791 (GRCm39) V259A probably benign Het
Trpa1 T C 1: 14,952,332 (GRCm39) probably null Het
Ttc28 G A 5: 111,371,147 (GRCm39) R532H probably damaging Het
Vwa5a A T 9: 38,646,916 (GRCm39) N529I possibly damaging Het
Zfp574 T C 7: 24,778,969 (GRCm39) probably benign 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
IGL03134:Stxbp4 UTSW 11 90,498,010 (GRCm39) missense probably damaging 0.98
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
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'- GGGTAGTGACTGACAATGGC -3'
(R):5'- TCAAGAGACTTTGCACGGATTC -3'

Sequencing Primer
(F):5'- GTGACTGACAATGGCCATTTTTAAAG -3'
(R):5'- CACGGATTCTAATTCTGGTCACGG -3'
Posted On 2015-09-24