Incidental Mutation 'IGL00937:Scrn1'
ID27639
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: 0.145) question?
Stock #IGL00937
Quality Score
Status
Chromosome6
Chromosomal Location54501173-54566489 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54520733 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 291 (I291T)
Ref Sequence ENSEMBL: ENSMUSP00000019268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019268]
Predicted Effect probably benign
Transcript: ENSMUST00000019268
AA Change: I291T

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000019268
Gene: ENSMUSG00000019124
AA Change: I291T

DomainStartEndE-ValueType
Pfam:Peptidase_C69 45 236 3.4e-10 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000203800
AA Change: I40T
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
Cc2d2a A T 5: 43,688,122 probably null Het
Cd34 A G 1: 194,960,114 E381G probably damaging Het
Chka A G 19: 3,892,189 E381G probably benign Het
Dennd1b T A 1: 139,170,239 C673S probably benign Het
E130308A19Rik G A 4: 59,690,846 A227T probably benign Het
F13b T A 1: 139,517,360 probably benign Het
Hipk3 T C 2: 104,433,172 N933D possibly damaging Het
Mmp27 T C 9: 7,578,899 probably benign Het
Nod1 C T 6: 54,937,364 V815I probably benign Het
Olfr411 C T 11: 74,347,429 V52I probably benign Het
Olfr448 T A 6: 42,896,634 F61Y probably damaging Het
Olfr552 T A 7: 102,604,357 M1K probably null Het
Olfr555 T A 7: 102,659,348 S176T probably damaging Het
Olfr613 C A 7: 103,551,857 A24E probably damaging Het
Olfr697 T A 7: 106,741,157 Y259F probably damaging Het
Pms1 T A 1: 53,275,251 E45V possibly damaging Het
Prkcsh T C 9: 22,006,565 S126P possibly damaging Het
Pros1 A T 16: 62,910,045 L299F probably damaging Het
Slc15a2 A T 16: 36,751,880 Y676* probably null Het
Tenm2 A C 11: 36,024,623 V2028G probably damaging Het
Trpa1 T C 1: 14,880,277 probably benign Het
Other mutations in Scrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00755:Scrn1 APN 6 54520709 missense possibly damaging 0.92
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
Posted On2013-04-17