Incidental Mutation 'IGL00937:Scrn1'
ID 27639
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scrn1
Ensembl Gene ENSMUSG00000019124
Gene Name secernin 1
Synonyms 2810019K23Rik, SES1, 6330535A03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL00937
Quality Score
Status
Chromosome 6
Chromosomal Location 54478158-54543474 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54497718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 291 (I291T)
Ref Sequence ENSEMBL: ENSMUSP00000019268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019268]
AlphaFold Q9CZC8
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: 43,845,464 (GRCm39) probably null Het
Cd34 A G 1: 194,642,422 (GRCm39) E381G probably damaging Het
Chka A G 19: 3,942,189 (GRCm39) E381G probably benign Het
Dennd1b T A 1: 139,097,977 (GRCm39) C673S probably benign Het
E130308A19Rik G A 4: 59,690,846 (GRCm39) A227T probably benign Het
F13b T A 1: 139,445,098 (GRCm39) probably benign Het
Hipk3 T C 2: 104,263,517 (GRCm39) N933D possibly damaging Het
Mmp27 T C 9: 7,578,900 (GRCm39) probably benign Het
Nod1 C T 6: 54,914,349 (GRCm39) V815I probably benign Het
Or2a5 T A 6: 42,873,568 (GRCm39) F61Y probably damaging Het
Or2ag15 T A 7: 106,340,364 (GRCm39) Y259F probably damaging Het
Or3a1d C T 11: 74,238,255 (GRCm39) V52I probably benign Het
Or51ab3 C A 7: 103,201,064 (GRCm39) A24E probably damaging Het
Or51h1 T A 7: 102,308,555 (GRCm39) S176T probably damaging Het
Or52k2 T A 7: 102,253,564 (GRCm39) M1K probably null Het
Pms1 T A 1: 53,314,410 (GRCm39) E45V possibly damaging Het
Prkcsh T C 9: 21,917,861 (GRCm39) S126P possibly damaging Het
Pros1 A T 16: 62,730,408 (GRCm39) L299F probably damaging Het
Slc15a2 A T 16: 36,572,242 (GRCm39) Y676* probably null Het
Tenm2 A C 11: 35,915,450 (GRCm39) V2028G probably damaging Het
Trpa1 T C 1: 14,950,501 (GRCm39) probably benign Het
Other mutations in Scrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00755:Scrn1 APN 6 54,497,694 (GRCm39) missense possibly damaging 0.92
IGL01568:Scrn1 APN 6 54,499,739 (GRCm39) unclassified probably benign
IGL02572:Scrn1 APN 6 54,489,186 (GRCm39) missense probably benign 0.01
IGL03251:Scrn1 APN 6 54,525,322 (GRCm39) nonsense probably null
IGL03279:Scrn1 APN 6 54,525,322 (GRCm39) nonsense probably null
IGL03301:Scrn1 APN 6 54,525,322 (GRCm39) nonsense probably null
IGL03307:Scrn1 APN 6 54,525,322 (GRCm39) nonsense probably null
R1583:Scrn1 UTSW 6 54,497,754 (GRCm39) missense probably damaging 1.00
R1658:Scrn1 UTSW 6 54,497,791 (GRCm39) missense probably benign
R1843:Scrn1 UTSW 6 54,499,826 (GRCm39) missense possibly damaging 0.81
R2314:Scrn1 UTSW 6 54,502,631 (GRCm39) missense probably benign 0.43
R4795:Scrn1 UTSW 6 54,497,754 (GRCm39) missense possibly damaging 0.71
R4960:Scrn1 UTSW 6 54,511,407 (GRCm39) missense probably damaging 1.00
R5420:Scrn1 UTSW 6 54,489,048 (GRCm39) missense probably benign 0.15
R8057:Scrn1 UTSW 6 54,497,758 (GRCm39) missense probably benign
R8340:Scrn1 UTSW 6 54,511,518 (GRCm39) missense possibly damaging 0.81
R8544:Scrn1 UTSW 6 54,499,841 (GRCm39) missense probably benign
R9465:Scrn1 UTSW 6 54,502,649 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17