Incidental Mutation 'R9503:Stxbp3'
ID 717697
Institutional Source Beutler Lab
Gene Symbol Stxbp3
Ensembl Gene ENSMUSG00000027882
Gene Name syntaxin binding protein 3
Synonyms Stxbp3, Stxbp3a, Munc-18c
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9503 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 108700496-108747818 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108710911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 327 (L327P)
Ref Sequence ENSEMBL: ENSMUSP00000099681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102621]
AlphaFold Q60770
PDB Structure Re-refinement of the crystal structure of Munc18-3 and Syntaxin4 N-peptide complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000102621
AA Change: L327P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: L327P

DomainStartEndE-ValueType
Pfam:Sec1 33 576 5.9e-107 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,987,458 (GRCm39) V2914E probably damaging Het
Bcan G A 3: 87,900,748 (GRCm39) P495L probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Cc2d2b C T 19: 40,804,275 (GRCm39) T934M unknown Het
Ciao1 T C 2: 127,084,916 (GRCm39) D274G probably damaging Het
Cpne9 G T 6: 113,271,732 (GRCm39) R364L possibly damaging Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Fbn2 T C 18: 58,171,313 (GRCm39) Y2150C probably damaging Het
Hdac4 A T 1: 91,929,956 (GRCm39) F177I probably damaging Het
Lama2 A G 10: 26,865,440 (GRCm39) V2906A possibly damaging Het
Mpp2 T C 11: 101,955,468 (GRCm39) D94G probably benign Het
Nudt14 A G 12: 112,898,566 (GRCm39) L178P probably damaging Het
Or14a258 C T 7: 86,035,228 (GRCm39) M213I probably benign Het
Pcnt A G 10: 76,263,882 (GRCm39) W361R possibly damaging Het
Pcnx4 G T 12: 72,588,561 (GRCm39) S123I probably damaging Het
Pnp A G 14: 51,188,423 (GRCm39) N199S probably benign Het
Prr12 G T 7: 44,693,020 (GRCm39) P1504Q unknown Het
Pus7l T A 15: 94,438,666 (GRCm39) I60L probably benign Het
Strn3 A T 12: 51,656,894 (GRCm39) F795I possibly damaging Het
Themis2 A G 4: 132,510,657 (GRCm39) probably null Het
Ube2j1 C T 4: 33,049,781 (GRCm39) Q260* probably null Het
Unc93b1 A G 19: 3,986,373 (GRCm39) I136V possibly damaging Het
Usp9y T A Y: 1,316,045 (GRCm39) Q2030L possibly damaging Het
Other mutations in Stxbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00805:Stxbp3 APN 3 108,723,667 (GRCm39) missense probably benign 0.05
IGL01370:Stxbp3 APN 3 108,704,741 (GRCm39) nonsense probably null
IGL01810:Stxbp3 APN 3 108,707,468 (GRCm39) missense probably benign 0.35
IGL02583:Stxbp3 APN 3 108,708,187 (GRCm39) missense probably damaging 1.00
IGL02827:Stxbp3 APN 3 108,717,211 (GRCm39) missense probably damaging 1.00
IGL03022:Stxbp3 APN 3 108,708,072 (GRCm39) missense probably damaging 1.00
IGL03198:Stxbp3 APN 3 108,734,405 (GRCm39) missense probably damaging 0.96
IGL03410:Stxbp3 APN 3 108,709,476 (GRCm39) missense probably damaging 1.00
G1patch:Stxbp3 UTSW 3 108,734,916 (GRCm39) missense possibly damaging 0.47
R0666:Stxbp3 UTSW 3 108,712,618 (GRCm39) missense possibly damaging 0.49
R3887:Stxbp3 UTSW 3 108,712,549 (GRCm39) splice site probably null
R4128:Stxbp3 UTSW 3 108,702,147 (GRCm39) missense probably benign 0.03
R4683:Stxbp3 UTSW 3 108,708,188 (GRCm39) missense probably damaging 1.00
R5106:Stxbp3 UTSW 3 108,702,243 (GRCm39) missense probably benign 0.01
R5307:Stxbp3 UTSW 3 108,701,114 (GRCm39) missense probably damaging 1.00
R6643:Stxbp3 UTSW 3 108,701,150 (GRCm39) missense probably damaging 1.00
R6722:Stxbp3 UTSW 3 108,723,762 (GRCm39) missense probably benign 0.03
R6725:Stxbp3 UTSW 3 108,734,916 (GRCm39) missense possibly damaging 0.47
R7110:Stxbp3 UTSW 3 108,723,649 (GRCm39) missense probably damaging 1.00
R7135:Stxbp3 UTSW 3 108,708,071 (GRCm39) missense probably damaging 1.00
R7231:Stxbp3 UTSW 3 108,708,125 (GRCm39) missense probably damaging 1.00
R7769:Stxbp3 UTSW 3 108,708,144 (GRCm39) missense probably benign
R8688:Stxbp3 UTSW 3 108,709,425 (GRCm39) critical splice donor site probably benign
R9048:Stxbp3 UTSW 3 108,723,704 (GRCm39) missense probably benign 0.33
R9523:Stxbp3 UTSW 3 108,747,756 (GRCm39) missense probably damaging 1.00
X0020:Stxbp3 UTSW 3 108,701,163 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAACGTCAGTGGCTGCTTCG -3'
(R):5'- AGAAGGTTCTGTTTTGTCCAAC -3'

Sequencing Primer
(F):5'- GGTCACTCTGGGCATTTCTCAG -3'
(R):5'- GAACTCAATGGCAGCTGCTTTAC -3'
Posted On 2022-07-18