Incidental Mutation 'IGL01646:Sri'
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: 0.157) question?
Stock #IGL01646
Quality Score
Chromosomal Location8046078-8069379 bp(+) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) G to A at 8063755 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088786] [ENSMUST00000148633]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000003245
Predicted Effect probably null
Transcript: ENSMUST00000088786
SMART Domains Protein: ENSMUSP00000086165
Gene: ENSMUSG00000003161

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 probably null
Transcript: ENSMUST00000148633
SMART Domains Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik T A 18: 57,667,345 C171* probably null Het
Ambp C T 4: 63,148,740 V188I probably benign Het
Bbs9 G T 9: 22,670,925 E638* probably null Het
Bmp6 A G 13: 38,498,928 M465V probably damaging Het
Cemip T C 7: 83,983,232 E374G possibly damaging Het
Cnbd1 A T 4: 18,895,141 Y200* probably null Het
Cox6b1 G T 7: 30,624,504 Y34* probably null Het
Cyp2d26 A C 15: 82,791,418 I303M probably benign Het
Diaph1 T A 18: 37,893,416 probably null Het
Dmp1 T C 5: 104,211,865 S136P probably damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Eea1 A G 10: 95,997,015 T241A probably damaging Het
Erap1 C A 13: 74,666,172 T25K probably damaging Het
Fras1 A G 5: 96,758,148 E3137G probably benign Het
Fryl C T 5: 73,022,501 probably null Het
Gldc T G 19: 30,100,765 D944A possibly damaging Het
Grm5 A G 7: 88,040,059 Y546C probably damaging Het
Igkv1-122 G A 6: 68,016,744 M1I probably null Het
Jag2 G A 12: 112,916,349 P380S possibly damaging Het
Kcnc2 T C 10: 112,272,406 probably null Het
Kmt2a T C 9: 44,825,484 probably benign Het
Lrrc55 A G 2: 85,191,989 V286A probably damaging Het
Mllt10 C A 2: 18,122,317 H82N probably damaging Het
Myh11 C A 16: 14,221,775 R837L probably damaging Het
Nsg1 C A 5: 38,155,691 D55Y probably damaging Het
Nup107 C A 10: 117,781,342 R221M probably damaging Het
Nup153 G T 13: 46,684,107 A1213D possibly damaging Het
Ovgp1 G A 3: 105,978,349 G174S probably damaging Het
Papss2 C T 19: 32,652,082 A357V probably benign Het
Pclo A G 5: 14,713,867 K4118R unknown Het
Pde2a T C 7: 101,507,711 I628T possibly damaging Het
Pla2r1 A G 2: 60,495,364 W521R probably damaging Het
Pld1 A T 3: 28,099,664 Q744L probably damaging Het
Pnpo T A 11: 96,938,949 E251V possibly damaging Het
Rdh10 C T 1: 16,108,022 H173Y possibly damaging Het
Sgpp2 A T 1: 78,416,896 I179F probably damaging Het
Slc11a1 C T 1: 74,384,740 P409L probably damaging Het
Slc35b4 T A 6: 34,158,429 N316I probably benign Het
Snrnp200 A G 2: 127,222,228 I712V probably benign Het
Spr T C 6: 85,134,240 D216G possibly damaging Het
Tas2r124 T C 6: 132,755,369 S214P probably damaging Het
Tg T A 15: 66,678,087 S233T probably damaging Het
Tgfbr3 A T 5: 107,121,413 probably benign Het
Vmn2r45 A G 7: 8,483,338 F317S probably benign Het
Vmn2r99 C A 17: 19,393,658 probably benign Het
Zfp957 T C 14: 79,213,891 E156G probably benign Het
Other mutations in Sri
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02442:Sri APN 5 8062411 missense probably damaging 1.00
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 intron probably null
R6944:Sri UTSW 5 8063365 missense probably benign 0.09
X0061:Sri UTSW 5 8063368 missense possibly damaging 0.82
Posted On2015-08-05