Incidental Mutation 'IGL02442:Sri'
ID293448
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sri
Ensembl Gene ENSMUSG00000003161
Gene Namesorcin
SynonymsSor, 2210417O06Rik, 2900070H08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.227) question?
Stock #IGL02442
Quality Score
Status
Chromosome5
Chromosomal Location8046078-8069379 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 8062411 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 78 (M78K)
Ref Sequence ENSEMBL: ENSMUSP00000118221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088786] [ENSMUST00000148633]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000003245
Predicted Effect probably damaging
Transcript: ENSMUST00000088786
AA Change: M63K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086165
Gene: ENSMUSG00000003161
AA Change: M63K

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
Pfam:EF-hand_5 30 43 8.7e-4 PFAM
EFh 59 87 6.75e0 SMART
EFh 89 117 1.02e-2 SMART
Blast:EFh 153 183 9e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145119
Predicted Effect probably damaging
Transcript: ENSMUST00000148633
AA Change: M78K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161
AA Change: M78K

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
Pfam:EF-hand_5 45 58 9.6e-4 PFAM
EFh 74 102 6.75e0 SMART
EFh 104 132 1.02e-2 SMART
Blast:EFh 168 198 1e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197065
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 encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik T C 11: 101,990,826 V116A probably benign Het
Adap2 A G 11: 80,177,206 E348G probably damaging Het
Ahnak G A 19: 9,004,016 G888D probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csde1 T C 3: 103,054,819 C649R probably benign Het
Cym A C 3: 107,214,285 D230E probably damaging Het
Dnah1 A T 14: 31,287,878 I1911N probably damaging Het
Fam60a A T 6: 148,928,507 probably null Het
Fat1 A G 8: 44,950,323 H37R probably benign Het
Ggt6 T C 11: 72,436,806 V146A possibly damaging Het
Glud1 T A 14: 34,335,438 L54* probably null Het
Grk6 A G 13: 55,458,937 probably benign Het
Gsta4 G A 9: 78,209,165 V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 V620M probably damaging Het
Hspe1 T C 1: 55,089,042 probably benign Het
Icmt T C 4: 152,298,716 V76A possibly damaging Het
Ifrd1 A G 12: 40,216,317 probably benign Het
Lgals12 T C 19: 7,606,654 probably benign Het
Lypla1 T C 1: 4,832,387 probably benign Het
Map1b A T 13: 99,508,198 W66R probably damaging Het
Matn3 T A 12: 8,967,678 C443* probably null Het
Mup8 T A 4: 60,219,695 R191W probably damaging Het
Mycbp2 T C 14: 103,314,375 K140R probably benign Het
Ndfip1 C T 18: 38,447,736 S66L probably damaging Het
Neu1 A G 17: 34,934,469 I323V probably benign Het
Nup205 A T 6: 35,190,068 T341S probably benign Het
Olfr1303 G A 2: 111,813,991 T245I probably benign Het
Olfr1466 T A 19: 13,342,120 C121S probably benign Het
Olfr1469 T A 19: 13,410,987 N139K probably benign Het
Ovch2 T A 7: 107,796,548 I88F possibly damaging Het
Pkd1 T A 17: 24,565,226 S249T probably benign Het
Plekhg3 A T 12: 76,578,353 Q1324L probably benign Het
Ppara T A 15: 85,801,143 V431E probably benign Het
Prkaa1 T G 15: 5,176,888 H408Q probably damaging Het
Sap25 T A 5: 137,641,995 N108K probably benign Het
Setd5 A C 6: 113,110,380 I81L possibly damaging Het
Tyro3 A G 2: 119,808,868 N352S probably benign Het
Ubr5 T A 15: 38,037,901 E332V possibly damaging Het
Vmn2r19 G T 6: 123,309,662 V85F possibly damaging Het
Vmn2r53 A T 7: 12,581,729 V721D probably damaging Het
Vwa5a A G 9: 38,734,784 M483V probably benign Het
Zfp786 T A 6: 47,821,367 Q212H probably benign Het
Other mutations in Sri
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01646:Sri APN 5 8063755 splice site probably null
IGL02661:Sri APN 5 8063252 splice site probably benign
IGL02675:Sri APN 5 8067534 missense probably damaging 1.00
R0847:Sri UTSW 5 8063755 splice site probably null
R0973:Sri UTSW 5 8059381 missense probably damaging 1.00
R0973:Sri UTSW 5 8059381 missense probably damaging 1.00
R0974:Sri UTSW 5 8059381 missense probably damaging 1.00
R1187:Sri UTSW 5 8059416 missense probably damaging 1.00
R2860:Sri UTSW 5 8067540 missense probably benign 0.26
R2861:Sri UTSW 5 8067540 missense probably benign 0.26
R3844:Sri UTSW 5 8064576 missense probably damaging 1.00
R4345:Sri UTSW 5 8059427 splice site probably null
R4575:Sri UTSW 5 8063693 missense probably damaging 1.00
R4704:Sri UTSW 5 8062430 splice site probably null
R5878:Sri UTSW 5 8059353 missense probably damaging 1.00
R6257:Sri UTSW 5 8059596 splice site probably null
R6944:Sri UTSW 5 8063365 missense probably benign 0.09
R7716:Sri UTSW 5 8056641 critical splice donor site probably null
R7917:Sri UTSW 5 8063409 critical splice donor site probably null
R7929:Sri UTSW 5 8057652 intron probably benign
R7960:Sri UTSW 5 8064586 missense probably benign 0.04
R8316:Sri UTSW 5 8063317 missense probably damaging 0.96
X0061:Sri UTSW 5 8063368 missense possibly damaging 0.82
Posted On2015-04-16