Mutagenetix > Incidental Mutation

Incidental Mutation 'R7960:Sri'

650040

Institutional Source

Beutler Lab

Gene Symbol

Sri

Ensembl Gene

ENSMUSG00000003161

Gene Name

sorcin

Synonyms

Sor, 2210417O06Rik, 2900070H08Rik

MMRRC Submission

046004-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R7960 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8046078-8069379 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8064586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 180 (Q180H)

Ref Sequence

ENSEMBL: ENSMUSP00000118221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088786] [ENSMUST00000148633]

AlphaFold

Q6P069

Predicted Effect

probably benign
Transcript: ENSMUST00000088786
AA Change: Q165H

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000086165
Gene: ENSMUSG00000003161
AA Change: Q165H

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

probably benign
Transcript: ENSMUST00000148633
AA Change: Q180H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161
AA Change: Q180H

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (71/72)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	C	7: 116,103,246	S82P	possibly damaging	Het
AA792892	A	G	5: 94,383,880	M208V	probably benign	Het
Ablim2	A	C	5: 35,857,149	E450A	probably benign	Het
Acacb	G	T	5: 114,230,861	M1713I	probably benign	Het
Acbd6	C	A	1: 155,687,020	Q256K	probably benign	Het
Agbl2	A	T	2: 90,791,631	N154I	probably benign	Het
Ahcyl2	A	G	6: 29,870,627	N181D	probably benign	Het
Aldh18a1	A	T	19: 40,557,820	D544E	probably benign	Het
Anapc1	A	T	2: 128,674,593	L407Q	probably damaging	Het
Arhgap26	T	A	18: 39,229,927	V34D		Het
Brd3	A	T	2: 27,452,933	S516T	probably benign	Het
Bsn	A	G	9: 108,115,548	S1002P	probably damaging	Het
C4b	G	T	17: 34,741,278		probably null	Het
Camta1	T	C	4: 151,148,533	T228A	probably benign	Het
Cct6b	T	C	11: 82,741,395	K256E	possibly damaging	Het
Cep85l	T	A	10: 53,296,307	Q552L	probably benign	Het
Col6a5	A	G	9: 105,945,850	F103L	unknown	Het
Copb2	A	G	9: 98,580,354	Q464R	possibly damaging	Het
Dlc1	G	T	8: 36,937,835	H267N	probably benign	Het
Dnajb2	T	C	1: 75,241,411	I184T		Het
Dnajc9	C	T	14: 20,388,696	E30K	possibly damaging	Het
Dock1	T	C	7: 135,077,188	L1012P	possibly damaging	Het
Dtnbp1	T	C	13: 44,953,174	K170R	probably benign	Het
F13b	T	A	1: 139,503,771	C26*	probably null	Het
Fam71a	T	A	1: 191,163,448	T333S	probably benign	Het
Ficd	G	T	5: 113,738,959	E398D	probably benign	Het
G6pc	G	A	11: 101,376,533	G270R	probably damaging	Het
Gm3604	T	C	13: 62,369,773	Y257C	probably damaging	Het
Hmcn1	T	A	1: 150,655,855	Y3221F	probably damaging	Het
Hs3st3b1	C	T	11: 63,921,868	G7D	possibly damaging	Het
Htr3b	A	T	9: 48,945,552	S209T	probably benign	Het
Iglon5	T	A	7: 43,476,902	E192D	probably benign	Het
Inpp5f	A	G	7: 128,693,914		probably null	Het
Kif26b	T	A	1: 178,678,919	C187S	probably damaging	Het
Klhl11	A	G	11: 100,463,979	S339P	probably benign	Het
Klk14	G	A	7: 43,692,043	A40T	probably damaging	Het
Kmt2c	G	A	5: 25,315,196	T1972I	probably benign	Het
Lama2	T	C	10: 26,993,098	T2784A	probably benign	Het
Loxhd1	T	A	18: 77,385,050	F1088I	probably damaging	Het
Map2k2	G	A	10: 81,119,134	R185Q	probably benign	Het
Mbd5	G	A	2: 49,279,784		probably null	Het
Mdc1	A	T	17: 35,850,678	R828*	probably null	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Olfr1002	A	G	2: 85,648,073	S83P	possibly damaging	Het
Parp4	C	A	14: 56,595,251		probably null	Het
Pbk	T	A	14: 65,809,201		probably null	Het
Phip	A	T	9: 82,893,348	D1060E	probably benign	Het
Pik3c2b	T	A	1: 133,103,849	L1509Q	probably damaging	Het
Pik3r5	T	A	11: 68,495,970	F808L	probably benign	Het
Plcl1	T	A	1: 55,697,284	S595T	possibly damaging	Het
Plxna2	AT	A	1: 194,793,864		probably null	Het
Pole	A	G	5: 110,289,861	K95R	possibly damaging	Het
Poteg	A	G	8: 27,456,860	T259A	probably benign	Het
Ptpn12	G	T	5: 21,055,689	P20Q	probably benign	Het
Ptpn5	T	A	7: 47,079,547	T440S	possibly damaging	Het
Ptpru	T	C	4: 131,788,509	R845G	probably benign	Het
Rasgrp2	G	T	19: 6,414,809	V596L	probably benign	Het
Rcbtb2	T	G	14: 73,161,944	V16G	probably benign	Het
Rel	T	C	11: 23,744,493	N289S	probably damaging	Het
Rpn1	T	A	6: 88,102,086	Y504N	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,917		probably benign	Het
Scaf8	G	A	17: 3,171,122	V295M	unknown	Het
Slc25a48	T	A	13: 56,463,598	Y173N	probably damaging	Het
Slc8a3	C	T	12: 81,216,732	S627N	probably benign	Het
Snx8	T	A	5: 140,358,093	M123L	probably benign	Het
Sycp2	T	A	2: 178,404,660	R4S	probably null	Het
Tcstv1	G	A	13: 119,893,985	T37I	possibly damaging	Het
Tnnc2	A	T	2: 164,777,784	D87E	probably benign	Het
Trim7	A	T	11: 48,837,801	N92I	probably damaging	Het
Trpv6	C	T	6: 41,627,678	D97N	probably benign	Het
Ttc30a1	A	T	2: 75,980,844	D298E	probably benign	Het
Ttc37	T	C	13: 76,112,199	C87R	probably benign	Het
Ulk4	A	G	9: 121,272,956	Y19H	probably damaging	Het
Vmn2r69	C	T	7: 85,406,765	V722I	probably benign	Het
Zan	T	C	5: 137,409,603	D3643G	unknown	Het
Zan	G	A	5: 137,464,892	T675I	unknown	Het

Other mutations in Sri

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01646:Sri	APN	5	8063755	splice site	probably null
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	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
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

Predicted Primers

PCR Primer
(F):5'- AAATGACCATTGACCACTTTCGG -3'
(R):5'- ATGAGCCACCATGTCCTATTATG -3'

Sequencing Primer
(F):5'- TCGGTCACTGTTACATATTGACTAG -3'
(R):5'- GTTTTAGGCAGAGTCTCACAAGC -3'

Posted On

2020-09-15