Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02442:Sri'

293448

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sri

Ensembl Gene

ENSMUSG00000003161

Gene Name

sorcin

Synonyms

Sor, 2210417O06Rik, 2900070H08Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

IGL02442

Quality Score

Status

Chromosome

Chromosomal Location

8046078-8069379 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8062411 bp (GRCm38)

Zygosity

Heterozygous

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]

AlphaFold

Q6P069

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R9062:Sri	UTSW	5	8056625	missense	unknown
R9224:Sri	UTSW	5	8063323	missense	probably damaging	1.00
X0061:Sri	UTSW	5	8063368	missense	possibly damaging	0.82

Posted On

2015-04-16