Incidental Mutation 'IGL01777:Snap47'
ID 154136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snap47
Ensembl Gene ENSMUSG00000009894
Gene Name synaptosomal-associated protein, 47
Synonyms SNAP-47, 1110031B06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01777
Quality Score
Status
Chromosome 11
Chromosomal Location 59297967-59340868 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 59312477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000010038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010038] [ENSMUST00000120940]
AlphaFold Q8R570
Predicted Effect probably null
Transcript: ENSMUST00000010038
SMART Domains Protein: ENSMUSP00000010038
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
SCOP:d1fpza_ 181 234 3e-3 SMART
low complexity region 335 349 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120940
SMART Domains Protein: ENSMUSP00000113555
Gene: ENSMUSG00000009894

DomainStartEndE-ValueType
coiled coil region 125 173 N/A INTRINSIC
SCOP:d1fpza_ 181 234 3e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 59,932,205 (GRCm39) V240A possibly damaging Het
Aftph A T 11: 20,676,554 (GRCm39) C352S possibly damaging Het
Cand2 T C 6: 115,769,818 (GRCm39) V876A probably damaging Het
Ccar1 T C 10: 62,616,356 (GRCm39) I125V possibly damaging Het
Celsr3 A T 9: 108,713,141 (GRCm39) M1858L probably benign Het
Csmd3 A T 15: 47,561,594 (GRCm39) N2134K probably benign Het
Dhx29 A G 13: 113,067,406 (GRCm39) I96V probably benign Het
Dst A G 1: 34,238,478 (GRCm39) T3727A probably benign Het
Elavl4 T A 4: 110,063,858 (GRCm39) probably null Het
Eno2 C T 6: 124,743,600 (GRCm39) G113D probably damaging Het
Esf1 A C 2: 139,999,092 (GRCm39) probably null Het
Frmd4b T C 6: 97,272,905 (GRCm39) D783G probably benign Het
Grin2a C T 16: 9,461,994 (GRCm39) V713I probably benign Het
Impa1 C T 3: 10,388,008 (GRCm39) G138D probably damaging Het
Kcnt2 A G 1: 140,523,736 (GRCm39) T1079A probably benign Het
Kmt2a A G 9: 44,760,302 (GRCm39) S549P probably damaging Het
Magoh C A 4: 107,740,373 (GRCm39) Q86K probably benign Het
Moxd1 C A 10: 24,128,494 (GRCm39) T182K probably benign Het
Or5p55 A G 7: 107,566,709 (GRCm39) Y35C probably damaging Het
Pramel25 T G 4: 143,521,688 (GRCm39) C435G possibly damaging Het
Rab3b A T 4: 108,786,607 (GRCm39) Q119L probably damaging Het
Taar3 A G 10: 23,825,903 (GRCm39) R150G probably benign Het
Tas2r102 C T 6: 132,739,815 (GRCm39) T241I probably damaging Het
Tas2r114 C T 6: 131,666,664 (GRCm39) W121* probably null Het
Trak1 G A 9: 121,260,626 (GRCm39) probably null Het
Ubn1 T C 16: 4,890,013 (GRCm39) V426A possibly damaging Het
Vmn1r40 T C 6: 89,691,204 (GRCm39) L7P probably benign Het
Vmn2r43 T C 7: 8,258,272 (GRCm39) I314V probably damaging Het
Vrtn T G 12: 84,695,696 (GRCm39) S149A probably benign Het
Other mutations in Snap47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02113:Snap47 APN 11 59,319,262 (GRCm39) missense probably damaging 0.99
IGL03290:Snap47 APN 11 59,319,424 (GRCm39) missense probably damaging 1.00
R0126:Snap47 UTSW 11 59,328,813 (GRCm39) missense probably damaging 0.99
R0582:Snap47 UTSW 11 59,319,259 (GRCm39) nonsense probably null
R0633:Snap47 UTSW 11 59,319,439 (GRCm39) missense probably benign 0.25
R0883:Snap47 UTSW 11 59,329,326 (GRCm39) utr 5 prime probably benign
R1657:Snap47 UTSW 11 59,319,596 (GRCm39) missense probably benign 0.08
R1855:Snap47 UTSW 11 59,319,159 (GRCm39) unclassified probably benign
R2761:Snap47 UTSW 11 59,328,885 (GRCm39) missense probably benign 0.01
R4079:Snap47 UTSW 11 59,319,377 (GRCm39) missense probably benign 0.38
R4805:Snap47 UTSW 11 59,319,343 (GRCm39) missense possibly damaging 0.91
R4960:Snap47 UTSW 11 59,319,369 (GRCm39) missense probably damaging 1.00
R5212:Snap47 UTSW 11 59,319,178 (GRCm39) missense probably damaging 0.99
R5793:Snap47 UTSW 11 59,329,018 (GRCm39) missense probably damaging 1.00
R7243:Snap47 UTSW 11 59,319,548 (GRCm39) missense probably benign 0.04
R7603:Snap47 UTSW 11 59,319,373 (GRCm39) missense probably damaging 1.00
R7870:Snap47 UTSW 11 59,328,904 (GRCm39) missense probably benign 0.11
R8001:Snap47 UTSW 11 59,329,180 (GRCm39) missense probably benign 0.20
R9156:Snap47 UTSW 11 59,319,290 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04