Incidental Mutation 'IGL00755:Scrn1'
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ID13940
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scrn1
Ensembl Gene ENSMUSG00000019124
Gene Namesecernin 1
Synonyms6330535A03Rik, SES1, 2810019K23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL00755
Quality Score
Status
Chromosome6
Chromosomal Location54501173-54566489 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 54520709 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 299 (D299V)
Ref Sequence ENSEMBL: ENSMUSP00000019268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019268]
Predicted Effect possibly damaging
Transcript: ENSMUST00000019268
AA Change: D299V

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019268
Gene: ENSMUSG00000019124
AA Change: D299V

DomainStartEndE-ValueType
Pfam:Peptidase_C69 45 236 3.4e-10 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000203800
AA Change: D48V
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,542,102 Y4381C possibly damaging Het
Card6 G A 15: 5,098,941 T991I possibly damaging Het
Cd163 A G 6: 124,318,657 N684S possibly damaging Het
Cep290 A G 10: 100,531,104 T1106A probably damaging Het
Cplx4 T A 18: 65,957,095 probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Dnah6 A T 6: 73,212,434 probably null Het
Dock8 A G 19: 25,051,509 K26E probably benign Het
Fancl G A 11: 26,470,916 V349I probably benign Het
Gsg1l A G 7: 125,923,426 F210S possibly damaging Het
Mboat2 T A 12: 24,957,646 V419E probably benign Het
Mycbp2 A G 14: 103,194,621 V2327A possibly damaging Het
Ndnf C T 6: 65,703,258 P174S probably damaging Het
Nlrp9b A T 7: 20,023,522 D228V probably damaging Het
Prps2 A T X: 167,374,142 I56N possibly damaging Het
Reln A G 5: 22,060,380 V438A probably damaging Het
Rmdn1 T A 4: 19,580,401 N42K probably benign Het
Sass6 G A 3: 116,618,328 E312K probably damaging Het
Slk T A 19: 47,609,010 C86S probably damaging Het
Veph1 C T 3: 66,255,010 E76K probably damaging Het
Zfp282 C T 6: 47,880,390 P186S probably damaging Het
Other mutations in Scrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00937:Scrn1 APN 6 54520733 missense probably benign 0.02
IGL01568:Scrn1 APN 6 54522754 unclassified probably benign
IGL02572:Scrn1 APN 6 54512201 missense probably benign 0.01
IGL03251:Scrn1 APN 6 54548337 nonsense probably null
IGL03279:Scrn1 APN 6 54548337 nonsense probably null
IGL03301:Scrn1 APN 6 54548337 nonsense probably null
IGL03307:Scrn1 APN 6 54548337 nonsense probably null
R1583:Scrn1 UTSW 6 54520769 missense probably damaging 1.00
R1658:Scrn1 UTSW 6 54520806 missense probably benign
R1843:Scrn1 UTSW 6 54522841 missense possibly damaging 0.81
R2314:Scrn1 UTSW 6 54525646 missense probably benign 0.43
R4795:Scrn1 UTSW 6 54520769 missense possibly damaging 0.71
R4960:Scrn1 UTSW 6 54534422 missense probably damaging 1.00
R5420:Scrn1 UTSW 6 54512063 missense probably benign 0.15
R8057:Scrn1 UTSW 6 54520773 missense probably benign
R8340:Scrn1 UTSW 6 54534533 missense possibly damaging 0.81
R8544:Scrn1 UTSW 6 54522856 missense probably benign
Posted On2012-12-06