Mutagenetix > Incidental Mutation

Incidental Mutation 'R6257:Sri'

519601

Institutional Source

Beutler Lab

Gene Symbol

Sri

Ensembl Gene

ENSMUSG00000003161

Gene Name

sorcin

Synonyms

2210417O06Rik, 2900070H08Rik, Sor

MMRRC Submission

044374-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R6257 (G1)

Quality Score

42.0073

Status

Validated

Chromosome

Chromosomal Location

8096078-8119314 bp(+) (GRCm39)

Type of Mutation

splice site (174 bp from exon)

DNA Base Change (assembly)

T to A at 8109596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000088786

SMART Domains

Protein: ENSMUSP00000086165
Gene: ENSMUSG00000003161

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: ENSMUST00000121828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145119

Predicted Effect

probably null
Transcript: ENSMUST00000148633

SMART Domains

Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (74/76)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,272,074 (GRCm39)	N313K	probably benign	Het
Adamts2	T	C	11: 50,666,153 (GRCm39)	V383A	probably damaging	Het
Adamts6	A	T	13: 104,598,790 (GRCm39)	Q877L	probably benign	Het
Adgre4	C	T	17: 56,109,133 (GRCm39)	T380I	possibly damaging	Het
Aspm	A	G	1: 139,409,791 (GRCm39)		probably null	Het
Atg16l2	A	G	7: 100,951,102 (GRCm39)		probably null	Het
Bcl6b	C	T	11: 70,116,878 (GRCm39)	R467H	probably benign	Het
Cacna2d4	G	A	6: 119,258,580 (GRCm39)		probably null	Het
Casp8ap2	A	G	4: 32,641,364 (GRCm39)	D806G	possibly damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Ccser1	A	G	6: 61,350,946 (GRCm39)	D501G	probably damaging	Het
Ccser1	A	G	6: 62,356,769 (GRCm39)	T736A	probably benign	Het
Cd164l2	T	A	4: 132,948,345 (GRCm39)	C19S	unknown	Het
Cdk15	G	A	1: 59,296,264 (GRCm39)		probably null	Het
Cebpz	T	C	17: 79,243,261 (GRCm39)	E131G	probably benign	Het
Ces1d	T	C	8: 93,893,025 (GRCm39)	D519G	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Chd1	T	G	17: 15,950,465 (GRCm39)		probably null	Het
Chil4	T	A	3: 106,111,412 (GRCm39)	D234V	possibly damaging	Het
Cldn16	T	A	16: 26,300,080 (GRCm39)	S173T	probably damaging	Het
Cpd	A	T	11: 76,703,496 (GRCm39)	F456I	probably benign	Het
Cst8	C	A	2: 148,647,365 (GRCm39)	A125E	probably damaging	Het
Dars2	G	T	1: 160,869,398 (GRCm39)	P617Q	probably damaging	Het
Defb26	A	G	2: 152,349,860 (GRCm39)	V140A	unknown	Het
Dntt	T	G	19: 41,041,501 (GRCm39)	V395G	probably damaging	Het
Dock10	G	A	1: 80,481,413 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,474,914 (GRCm39)	N1216S	possibly damaging	Het
En1	A	T	1: 120,531,636 (GRCm39)	D292V	unknown	Het
Erbb4	A	T	1: 68,435,432 (GRCm39)	L155Q	probably damaging	Het
Erbin	T	C	13: 103,998,796 (GRCm39)	T197A	probably benign	Het
Fat2	A	G	11: 55,153,407 (GRCm39)	F3602L	probably benign	Het
Fcsk	A	T	8: 111,617,177 (GRCm39)	C365S	probably benign	Het
Gm3443	A	T	19: 21,533,075 (GRCm39)	D13V	unknown	Het
Gm6401	T	C	14: 41,789,828 (GRCm39)	Q10R	probably benign	Het
Gmcl1	G	A	6: 86,677,623 (GRCm39)	T410I	possibly damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H2-T24	T	A	17: 36,325,574 (GRCm39)	T305S	probably benign	Het
Ksr2	A	T	5: 117,552,909 (GRCm39)	M6L	probably benign	Het
Lama2	A	G	10: 26,862,895 (GRCm39)	L2956S	possibly damaging	Het
Lhfpl3	A	G	5: 22,951,557 (GRCm39)	T123A	probably benign	Het
Lrp1b	T	A	2: 40,486,981 (GRCm39)		probably null	Het
Ltn1	G	A	16: 87,208,662 (GRCm39)	A812V	possibly damaging	Het
Maml2	C	T	9: 13,531,722 (GRCm39)	S312L	probably damaging	Het
Myo7b	T	A	18: 32,146,468 (GRCm39)	N106Y	probably damaging	Het
Nacc2	A	T	2: 25,950,420 (GRCm39)	C439S	probably damaging	Het
Ncoa7	A	G	10: 30,570,173 (GRCm39)	I224T	probably damaging	Het
Nf1	A	T	11: 79,440,317 (GRCm39)	L2303F	probably damaging	Het
Noc3l	A	T	19: 38,784,349 (GRCm39)		probably null	Het
Nup155	C	T	15: 8,180,282 (GRCm39)	R1120*	probably null	Het
Oas3	C	A	5: 120,899,200 (GRCm39)		probably benign	Het
Ocln	T	C	13: 100,676,017 (GRCm39)	I159V	probably benign	Het
Or1p1c	T	C	11: 74,160,833 (GRCm39)	V206A	probably damaging	Het
Or2t45	T	A	11: 58,669,829 (GRCm39)	V292E	probably damaging	Het
Os9	A	C	10: 126,955,006 (GRCm39)	C181G	probably damaging	Het
Phldb1	C	T	9: 44,607,437 (GRCm39)	R1256Q	probably damaging	Het
Pkd1l1	G	A	11: 8,892,195 (GRCm39)	T208I	probably benign	Het
Plppr4	T	C	3: 117,116,228 (GRCm39)	Q485R	possibly damaging	Het
Prkcb	T	A	7: 122,167,386 (GRCm39)	D365E	probably benign	Het
Ptprz1	T	A	6: 22,959,639 (GRCm39)	N45K	probably damaging	Het
Rbl2	T	C	8: 91,842,306 (GRCm39)	L987P	probably damaging	Het
Runx1	T	A	16: 92,492,799 (GRCm39)		probably benign	Het
Septin4	C	A	11: 87,481,175 (GRCm39)	Q372K	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
St3gal3	C	T	4: 117,964,875 (GRCm39)		probably benign	Het
Tfpt	A	T	7: 3,632,566 (GRCm39)	L3*	probably null	Het
Tgfb3	T	C	12: 86,124,615 (GRCm39)	D31G	possibly damaging	Het
Thsd7a	G	T	6: 12,408,987 (GRCm39)	C678*	probably null	Het
Tmbim1	A	G	1: 74,332,225 (GRCm39)	Y101H	probably damaging	Het
Tmem17	A	G	11: 22,462,297 (GRCm39)		probably benign	Het
Tmprss15	A	T	16: 78,769,113 (GRCm39)	V769E	probably damaging	Het
Trak1	C	T	9: 121,275,821 (GRCm39)	R175C	probably damaging	Het
Trak1	G	T	9: 121,196,290 (GRCm39)	V41F	possibly damaging	Het
Trim30c	T	C	7: 104,039,375 (GRCm39)	Y140C	probably damaging	Het
Tubgcp3	A	T	8: 12,699,835 (GRCm39)		probably null	Het
Ubr7	T	A	12: 102,732,099 (GRCm39)	C158*	probably null	Het
Vmn2r79	A	T	7: 86,651,778 (GRCm39)	L392F	probably benign	Het
Zfp536	T	A	7: 37,179,830 (GRCm39)	D925V	probably damaging	Het

Other mutations in Sri

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01646:Sri	APN	5	8,113,755 (GRCm39)	splice site	probably null
IGL02442:Sri	APN	5	8,112,411 (GRCm39)	missense	probably damaging	1.00
IGL02661:Sri	APN	5	8,113,252 (GRCm39)	splice site	probably benign
IGL02675:Sri	APN	5	8,117,534 (GRCm39)	missense	probably damaging	1.00
R0847:Sri	UTSW	5	8,113,755 (GRCm39)	splice site	probably null
R0973:Sri	UTSW	5	8,109,381 (GRCm39)	missense	probably damaging	1.00
R0973:Sri	UTSW	5	8,109,381 (GRCm39)	missense	probably damaging	1.00
R0974:Sri	UTSW	5	8,109,381 (GRCm39)	missense	probably damaging	1.00
R1187:Sri	UTSW	5	8,109,416 (GRCm39)	missense	probably damaging	1.00
R2860:Sri	UTSW	5	8,117,540 (GRCm39)	missense	probably benign	0.26
R2861:Sri	UTSW	5	8,117,540 (GRCm39)	missense	probably benign	0.26
R3844:Sri	UTSW	5	8,114,576 (GRCm39)	missense	probably damaging	1.00
R4345:Sri	UTSW	5	8,109,427 (GRCm39)	splice site	probably null
R4575:Sri	UTSW	5	8,113,693 (GRCm39)	missense	probably damaging	1.00
R4704:Sri	UTSW	5	8,112,430 (GRCm39)	splice site	probably null
R5878:Sri	UTSW	5	8,109,353 (GRCm39)	missense	probably damaging	1.00
R6944:Sri	UTSW	5	8,113,365 (GRCm39)	missense	probably benign	0.09
R7716:Sri	UTSW	5	8,106,641 (GRCm39)	critical splice donor site	probably null
R7917:Sri	UTSW	5	8,113,409 (GRCm39)	critical splice donor site	probably null
R7929:Sri	UTSW	5	8,107,652 (GRCm39)	intron	probably benign
R7960:Sri	UTSW	5	8,114,586 (GRCm39)	missense	probably benign	0.04
R8316:Sri	UTSW	5	8,113,317 (GRCm39)	missense	probably damaging	0.96
R9062:Sri	UTSW	5	8,106,625 (GRCm39)	missense	unknown
R9224:Sri	UTSW	5	8,113,323 (GRCm39)	missense	probably damaging	1.00
X0061:Sri	UTSW	5	8,113,368 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CTGACGAATTGCAGAGATGCC -3'
(R):5'- CAAGCACTTGGTAGAATCAGTG -3'

Sequencing Primer
(F):5'- TAACACAGTCTGGCATTGCG -3'
(R):5'- CACTTGGTAGAATCAGTGGTACC -3'

Posted On

2018-06-04