Incidental Mutation 'IGL01099:Snapin'
ID 50733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snapin
Ensembl Gene ENSMUSG00000001018
Gene Name SNAP-associated protein
Synonyms Snap25bp, Snapap, Bloc1s7
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01099
Quality Score
Status
Chromosome 3
Chromosomal Location 90395333-90398320 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 90397909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001042] [ENSMUST00000149884] [ENSMUST00000184877] [ENSMUST00000185005]
AlphaFold Q9Z266
Predicted Effect probably benign
Transcript: ENSMUST00000001042
SMART Domains Protein: ENSMUSP00000001042
Gene: ENSMUSG00000001016

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
DZF 98 338 5.01e-142 SMART
low complexity region 353 390 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107352
Predicted Effect probably benign
Transcript: ENSMUST00000149884
SMART Domains Protein: ENSMUSP00000122090
Gene: ENSMUSG00000001018

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:Snapin_Pallidin 23 110 5.8e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184877
SMART Domains Protein: ENSMUSP00000139315
Gene: ENSMUSG00000001018

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185005
SMART Domains Protein: ENSMUSP00000139160
Gene: ENSMUSG00000001018

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196769
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198641
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygous mice die shortly after birth. No obvious brain morphological abnormalities are seen. Calcium-dependent exocytosis in adrenal chromaffin cells is reduced due to a reduced number of secretory vesicles in releasable pools. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,965,031 (GRCm39) probably benign Het
Adam28 A G 14: 68,874,778 (GRCm39) probably null Het
Adcy10 A G 1: 165,367,411 (GRCm39) I560M probably benign Het
Alpl G A 4: 137,470,624 (GRCm39) probably benign Het
Ank1 G A 8: 23,598,265 (GRCm39) G753D probably damaging Het
Arhgef28 A T 13: 98,090,480 (GRCm39) probably benign Het
Bmp7 A T 2: 172,717,055 (GRCm39) C329S probably damaging Het
Capn13 T C 17: 73,658,504 (GRCm39) D188G probably damaging Het
Car10 G A 11: 93,469,516 (GRCm39) E164K possibly damaging Het
Cfhr1 T A 1: 139,475,497 (GRCm39) probably benign Het
Col11a1 C T 3: 113,905,690 (GRCm39) R562* probably null Het
Colec12 C T 18: 9,848,826 (GRCm39) R335C probably damaging Het
Cyb561d2 C T 9: 107,417,488 (GRCm39) probably null Het
Epb41l3 A G 17: 69,517,188 (GRCm39) D72G possibly damaging Het
Etl4 T C 2: 20,811,922 (GRCm39) L1335P probably benign Het
F5 T G 1: 164,021,903 (GRCm39) N1459K probably damaging Het
Fam161a T C 11: 22,965,894 (GRCm39) probably benign Het
Flnc G A 6: 29,433,617 (GRCm39) V54M probably damaging Het
Fndc3b T C 3: 27,517,966 (GRCm39) I607V probably benign Het
Fscb A G 12: 64,518,875 (GRCm39) S864P unknown Het
Glod4 T A 11: 76,130,376 (GRCm39) K36* probably null Het
Gm6619 G A 6: 131,467,393 (GRCm39) R86Q possibly damaging Het
Gm7052 T C 17: 22,258,706 (GRCm39) probably benign Het
Gyg1 A T 3: 20,205,211 (GRCm39) M119K probably benign Het
Ifit2 A T 19: 34,550,702 (GRCm39) I81F probably damaging Het
Insr T C 8: 3,308,682 (GRCm39) Y118C probably damaging Het
Katnip T A 7: 125,464,492 (GRCm39) H1286Q probably damaging Het
Kcnh3 T C 15: 99,137,617 (GRCm39) S771P probably benign Het
Kndc1 C A 7: 139,500,700 (GRCm39) H688Q probably damaging Het
Mybpc2 A G 7: 44,165,591 (GRCm39) C330R probably damaging Het
Naa50 A T 16: 43,976,832 (GRCm39) N23I probably damaging Het
Nt5el A T 13: 105,245,868 (GRCm39) H143L probably benign Het
Or55b4 T A 7: 102,133,685 (GRCm39) D214V probably damaging Het
Or5a1 A G 19: 12,097,240 (GRCm39) S279P probably damaging Het
Or8b48 T C 9: 38,493,373 (GRCm39) S267P probably benign Het
Or8c16 T C 9: 38,131,039 (GRCm39) S307P probably benign Het
Pfkp A T 13: 6,653,426 (GRCm39) probably benign Het
Phlda2 G A 7: 143,055,876 (GRCm39) probably null Het
Plxnd1 C A 6: 115,946,906 (GRCm39) V823L probably benign Het
Prpf40a T A 2: 53,031,847 (GRCm39) H794L probably benign Het
Ripor2 A T 13: 24,885,190 (GRCm39) H436L probably benign Het
Rnf138 T A 18: 21,153,970 (GRCm39) C159S possibly damaging Het
Scn7a A T 2: 66,514,582 (GRCm39) V1064D probably damaging Het
Slc12a2 T A 18: 58,039,092 (GRCm39) C557* probably null Het
Slc1a6 T C 10: 78,624,831 (GRCm39) S79P possibly damaging Het
Tdp1 A T 12: 99,881,704 (GRCm39) probably benign Het
Tigar G T 6: 127,065,108 (GRCm39) A180E probably benign Het
Trav6-2 A T 14: 52,905,122 (GRCm39) T48S probably benign Het
Ttn A G 2: 76,558,776 (GRCm39) Y29702H probably damaging Het
Ush1c A G 7: 45,854,686 (GRCm39) S689P probably damaging Het
Vmn1r40 A T 6: 89,691,578 (GRCm39) I132F probably damaging Het
Vmn1r85 T A 7: 12,818,461 (GRCm39) K228* probably null Het
Wdr33 C A 18: 32,039,842 (GRCm39) probably benign Het
Ybx2 A T 11: 69,831,556 (GRCm39) Q136L probably damaging Het
Ypel1 T A 16: 16,909,076 (GRCm39) M368L probably damaging Het
Other mutations in Snapin
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0532:Snapin UTSW 3 90,396,893 (GRCm39) missense probably damaging 1.00
R1925:Snapin UTSW 3 90,397,539 (GRCm39) missense possibly damaging 0.83
R3700:Snapin UTSW 3 90,397,499 (GRCm39) nonsense probably null
R4794:Snapin UTSW 3 90,398,092 (GRCm39) intron probably benign
Posted On 2013-06-21