Incidental Mutation 'R6314:Snap29'
ID 509963
Institutional Source Beutler Lab
Gene Symbol Snap29
Ensembl Gene ENSMUSG00000022765
Gene Name synaptosomal-associated protein 29
Synonyms 1300018G05Rik
MMRRC Submission 044471-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6314 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 17223864-17248690 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17237183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 98 (M98T)
Ref Sequence ENSEMBL: ENSMUSP00000023449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023449]
AlphaFold Q9ERB0
Predicted Effect probably benign
Transcript: ENSMUST00000023449
AA Change: M98T

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023449
Gene: ENSMUSG00000022765
AA Change: M98T

DomainStartEndE-ValueType
t_SNARE 45 112 1.53e-6 SMART
t_SNARE 193 260 1.39e-13 SMART
Meta Mutation Damage Score 0.4379 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit slightly reduced birth body size and a congenital ichtyotic phenotype associated with scaly and tight skin, hyperkeratosis, acanthosis, abnormalities in epidermal differentiation and autophagy, and increased endoplasmic reticulum stress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik A C 5: 146,441,702 (GRCm39) E283A possibly damaging Het
Aadacl2 A T 3: 59,924,824 (GRCm39) R130S probably damaging Het
Adam22 A T 5: 8,177,365 (GRCm39) C581* probably null Het
Adss2 T A 1: 177,595,334 (GRCm39) Y402F probably damaging Het
Agfg1 A T 1: 82,836,155 (GRCm39) Q13H probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Armc8 A G 9: 99,417,937 (GRCm39) S74P probably benign Het
Atn1 A T 6: 124,724,013 (GRCm39) probably benign Het
Ddx5 T C 11: 106,679,347 (GRCm39) probably benign Het
Depdc1a T A 3: 159,204,051 (GRCm39) H33Q probably damaging Het
Dnmt3l A T 10: 77,895,521 (GRCm39) Y58F probably benign Het
Efemp1 C T 11: 28,864,603 (GRCm39) T219I probably benign Het
Enpp2 T C 15: 54,729,366 (GRCm39) N436D probably damaging Het
Epb41l4a A G 18: 34,007,208 (GRCm39) V261A probably damaging Het
Erap1 A T 13: 74,822,894 (GRCm39) K802N probably damaging Het
Fads2b T C 2: 85,332,520 (GRCm39) N168S probably benign Het
Fcrl6 T A 1: 172,426,186 (GRCm39) probably null Het
Fv1 A T 4: 147,954,156 (GRCm39) probably null Het
Gdpd4 T A 7: 97,623,160 (GRCm39) M257K probably damaging Het
Gorab T C 1: 163,224,658 (GRCm39) S48G probably damaging Het
Gxylt2 A T 6: 100,775,164 (GRCm39) H361L probably damaging Het
Hk1 A G 10: 62,128,223 (GRCm39) Y300H possibly damaging Het
Hk3 T C 13: 55,161,393 (GRCm39) R156G probably benign Het
Hook3 T A 8: 26,578,136 (GRCm39) M118L probably benign Het
Lmnb2 G A 10: 80,745,804 (GRCm39) R92C probably damaging Het
Lsr A G 7: 30,658,024 (GRCm39) L380P probably damaging Het
Mettl16 A T 11: 74,686,832 (GRCm39) R204* probably null Het
Or5h18 A T 16: 58,847,820 (GRCm39) I150K probably benign Het
Or7a37 A G 10: 78,806,179 (GRCm39) H232R probably benign Het
Or7e173 C A 9: 19,938,958 (GRCm39) S92I probably damaging Het
Orc3 C A 4: 34,579,797 (GRCm39) G494C possibly damaging Het
Pcare T G 17: 72,059,452 (GRCm39) Q75P probably benign Het
Pip5k1a G T 3: 94,975,432 (GRCm39) T346K probably damaging Het
Pitx1 A T 13: 55,974,166 (GRCm39) S222T possibly damaging Het
Pm20d1 T C 1: 131,743,754 (GRCm39) V473A possibly damaging Het
Pnpla6 C T 8: 3,571,572 (GRCm39) L168F probably benign Het
Pramel13 T C 4: 144,121,157 (GRCm39) D289G probably damaging Het
Reln C A 5: 22,357,482 (GRCm39) E195* probably null Het
S100a7l2 A T 3: 90,995,683 (GRCm39) V73E possibly damaging Het
Sec24b A T 3: 129,800,894 (GRCm39) probably null Het
Selenbp1 A G 3: 94,844,576 (GRCm39) N78D probably damaging Het
Serpina1d T A 12: 103,730,959 (GRCm39) T340S probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Son G T 16: 91,457,298 (GRCm39) probably benign Het
Spef1l A C 7: 139,556,402 (GRCm39) L195R possibly damaging Het
Tgfbi A T 13: 56,773,976 (GRCm39) T252S probably benign Het
Thsd7a T C 6: 12,554,996 (GRCm39) N296S possibly damaging Het
Tmem225 C G 9: 40,062,016 (GRCm39) T210S probably benign Het
Tmem245 A T 4: 56,888,592 (GRCm39) V778D possibly damaging Het
Tor4a T C 2: 25,084,794 (GRCm39) R370G possibly damaging Het
Tubgcp3 T C 8: 12,698,625 (GRCm39) H442R probably benign Het
Vmn1r20 A T 6: 57,409,042 (GRCm39) M123L probably benign Het
Zfp622 T C 15: 25,987,067 (GRCm39) V273A probably benign Het
Zhx1 C T 15: 57,917,398 (GRCm39) V283I probably benign Het
Other mutations in Snap29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03231:Snap29 APN 16 17,244,964 (GRCm39) missense probably benign 0.06
IGL02799:Snap29 UTSW 16 17,240,367 (GRCm39) missense probably benign
R0086:Snap29 UTSW 16 17,246,100 (GRCm39) missense probably damaging 0.96
R0371:Snap29 UTSW 16 17,224,067 (GRCm39) missense probably benign 0.02
R0616:Snap29 UTSW 16 17,240,370 (GRCm39) nonsense probably null
R0709:Snap29 UTSW 16 17,224,012 (GRCm39) missense probably damaging 0.99
R2002:Snap29 UTSW 16 17,224,190 (GRCm39) nonsense probably null
R2137:Snap29 UTSW 16 17,246,113 (GRCm39) missense possibly damaging 0.60
R4478:Snap29 UTSW 16 17,246,019 (GRCm39) missense probably benign 0.00
R4976:Snap29 UTSW 16 17,237,132 (GRCm39) missense probably damaging 1.00
R5933:Snap29 UTSW 16 17,224,194 (GRCm39) missense probably damaging 1.00
R6824:Snap29 UTSW 16 17,240,370 (GRCm39) missense probably benign 0.01
R7397:Snap29 UTSW 16 17,237,236 (GRCm39) missense probably damaging 1.00
R9088:Snap29 UTSW 16 17,246,058 (GRCm39) missense probably damaging 1.00
R9180:Snap29 UTSW 16 17,224,163 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTAGAAAAGGATGGAAGCAGC -3'
(R):5'- GTCTGAAAGCCTTGGCTCCT -3'

Sequencing Primer
(F):5'- CCAGGATTTTGTGCAAACCAG -3'
(R):5'- GAAAGCCTTGGCTCCTTCACAC -3'
Posted On 2018-04-02