Incidental Mutation 'IGL03251:Scrn1'
ID414924
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: 0.168) question?
Stock #IGL03251
Quality Score
Status
Chromosome6
Chromosomal Location54501173-54566489 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 54548337 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 16 (R16*)
Ref Sequence ENSEMBL: ENSMUSP00000118255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019268] [ENSMUST00000129744]
Predicted Effect probably null
Transcript: ENSMUST00000019268
AA Change: R16*
SMART Domains Protein: ENSMUSP00000019268
Gene: ENSMUSG00000019124
AA Change: R16*

DomainStartEndE-ValueType
Pfam:Peptidase_C69 45 236 3.4e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000129744
AA Change: R16*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140235
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,982,237 probably benign Het
Cdkl2 A G 5: 92,033,726 I132T probably damaging Het
Ckap4 A T 10: 84,528,605 I198N probably damaging Het
Col6a3 C T 1: 90,810,176 R600H probably damaging Het
Dnah7a A G 1: 53,647,274 I239T probably benign Het
Ei24 A G 9: 36,780,109 *359R probably null Het
Elk3 A T 10: 93,254,821 probably null Het
Eps8l2 T A 7: 141,342,962 M46K probably damaging Het
Frem2 G T 3: 53,572,308 T1988N probably benign Het
Gm5431 T C 11: 48,894,721 K276E probably benign Het
Gm8220 T A 14: 44,288,272 C133S possibly damaging Het
Hectd2 T C 19: 36,585,526 L168P probably damaging Het
Hydin A T 8: 110,490,596 D1372V probably damaging Het
Isl1 T C 13: 116,305,449 S83G probably benign Het
Lrp1b A G 2: 40,600,267 I107T probably benign Het
Mlc1 A T 15: 88,974,731 V117D possibly damaging Het
Ndc1 A G 4: 107,380,659 E220G possibly damaging Het
Nlrp4b T A 7: 10,714,500 M210K probably benign Het
Olfr372 A T 8: 72,058,076 Y132F probably damaging Het
Plch1 T C 3: 63,784,002 E60G possibly damaging Het
Pld1 G A 3: 28,088,665 R674H probably benign Het
Ppp1r13l G A 7: 19,368,869 probably benign Het
Ppp2cb A T 8: 33,610,651 probably benign Het
Rchy1 G T 5: 91,962,643 A26D probably benign Het
Rrm1 T C 7: 102,457,206 F311L probably damaging Het
Slc24a4 T C 12: 102,222,825 L173P probably damaging Het
Srgap1 T C 10: 121,804,921 probably null Het
Tube1 T A 10: 39,134,981 probably benign Het
Utp20 C T 10: 88,817,326 probably null Het
Vmn2r55 T C 7: 12,671,193 probably benign Het
Other mutations in Scrn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00755:Scrn1 APN 6 54520709 missense possibly damaging 0.92
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
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
Posted On2016-08-02