Mutagenetix > Incidental Mutation

Incidental Mutation 'R9062:Sri'

689025

Institutional Source

Beutler Lab

Gene Symbol

Sri

Ensembl Gene

ENSMUSG00000003161

Gene Name

sorcin

Synonyms

2210417O06Rik, 2900070H08Rik, Sor

MMRRC Submission

068888-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R9062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8096078-8119314 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8106625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 13 (Y13H)

Ref Sequence

ENSEMBL: ENSMUSP00000118221 (fasta)

Gene Model

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

AlphaFold

Q6P069

Predicted Effect

probably benign
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

unknown
Transcript: ENSMUST00000148633
AA Change: Y13H

SMART Domains

Protein: ENSMUSP00000118221
Gene: ENSMUSG00000003161
AA Change: Y13H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambra1	A	G	2: 91,740,662 (GRCm39)	E1047G	possibly damaging	Het
Ankfn1	T	G	11: 89,325,583 (GRCm39)	I530L	probably benign	Het
Apob	A	T	12: 8,058,046 (GRCm39)	Y2176F	possibly damaging	Het
Atp5f1a	C	T	18: 77,866,459 (GRCm39)	R171*	probably null	Het
Atxn10	T	C	15: 85,275,918 (GRCm39)	V325A	probably benign	Het
B3galt1	T	C	2: 67,948,890 (GRCm39)	Y202H		Het
Calhm1	A	T	19: 47,129,828 (GRCm39)	D231E	possibly damaging	Het
Cel	C	A	2: 28,451,214 (GRCm39)	V48F	probably benign	Het
Cep78	T	A	19: 15,956,318 (GRCm39)	Y207F	probably benign	Het
Cnst	T	C	1: 179,434,100 (GRCm39)		probably null	Het
Cpeb2	C	A	5: 43,391,171 (GRCm39)	N122K		Het
Cyth1	T	C	11: 118,023,142 (GRCm39)	Q432R	unknown	Het
Eif2ak1	T	C	5: 143,803,548 (GRCm39)		probably benign	Het
Eif6	T	C	2: 155,665,928 (GRCm39)	T76A	probably benign	Het
Etfrf1	A	T	6: 145,161,153 (GRCm39)	N41I	probably damaging	Het
Etl4	T	G	2: 20,748,616 (GRCm39)	L318R	probably damaging	Het
Fam151a	G	T	4: 106,605,306 (GRCm39)	W556L	probably benign	Het
Gas2l1	A	G	11: 5,011,497 (GRCm39)	V444A	probably benign	Het
Gbp8	A	G	5: 105,179,124 (GRCm39)	I125T	possibly damaging	Het
Jrkl	A	G	9: 13,245,338 (GRCm39)	F108L	probably benign	Het
Kif13a	G	T	13: 46,941,536 (GRCm39)	D980E	possibly damaging	Het
Leng9	C	T	7: 4,151,666 (GRCm39)	A337T	probably damaging	Het
Lipo3	A	C	19: 33,757,714 (GRCm39)	C252G	probably damaging	Het
Lrp4	C	A	2: 91,303,925 (GRCm39)	D113E	possibly damaging	Het
Mapk8ip1	T	C	2: 92,217,527 (GRCm39)	Y265C	probably damaging	Het
Mios	A	T	6: 8,233,221 (GRCm39)	I790F	probably benign	Het
Mlf2	G	A	6: 124,911,334 (GRCm39)		silent	Het
Mycbp2	T	A	14: 103,479,796 (GRCm39)	Y1226F	probably benign	Het
Ncoa6	T	A	2: 155,263,348 (GRCm39)	Q362L	probably benign	Het
Notch3	T	C	17: 32,341,692 (GRCm39)	D2020G	possibly damaging	Het
Or4a73	T	C	2: 89,420,923 (GRCm39)	M179V	probably benign	Het
Or4c111	T	A	2: 88,843,548 (GRCm39)	T287S	probably damaging	Het
Or52z1	T	A	7: 103,437,155 (GRCm39)	I110L	probably benign	Het
Or8d1b	A	T	9: 38,887,421 (GRCm39)	I150F	probably benign	Het
Otop2	C	A	11: 115,214,465 (GRCm39)	A74E	probably benign	Het
Pgm1	T	C	4: 99,843,954 (GRCm39)	I579T	probably damaging	Het
Preb	A	G	5: 31,116,196 (GRCm39)	V137A	probably benign	Het
Psap	G	T	10: 60,131,738 (GRCm39)	V244L	possibly damaging	Het
Setbp1	A	G	18: 78,900,266 (GRCm39)	S1134P	probably benign	Het
Skp2	G	T	15: 9,113,821 (GRCm39)	P399Q	probably damaging	Het
Slc47a1	T	G	11: 61,253,924 (GRCm39)	I222L	probably benign	Het
Spata31h1	A	G	10: 82,126,945 (GRCm39)	W2022R	probably benign	Het
Spef2	A	G	15: 9,601,717 (GRCm39)	L1515S	unknown	Het
Tcf25	T	C	8: 124,116,448 (GRCm39)	F248L		Het
Tdrd12	T	C	7: 35,179,694 (GRCm39)	T885A	unknown	Het
Ttn	T	C	2: 76,600,944 (GRCm39)	T18813A	probably damaging	Het
Usp42	A	G	5: 143,703,740 (GRCm39)	V441A	possibly damaging	Het
Vwa1	A	T	4: 155,854,820 (GRCm39)	S405T	probably benign	Het
Zbbx	A	T	3: 74,989,124 (GRCm39)	H326Q	possibly damaging	Het
Zfp64	T	C	2: 168,767,747 (GRCm39)	T622A	probably benign	Het
Zfp677	T	G	17: 21,612,815 (GRCm39)		probably null	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
R6257:Sri	UTSW	5	8,109,596 (GRCm39)	splice site	probably null
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
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'- TATAAACTCGTCTGGGGTCCTG -3'
(R):5'- TACAGAATGGGCTTCCTGGG -3'

Sequencing Primer
(F):5'- AGACGGCGCTGACACAG -3'
(R):5'- CCTGGAAAGGCCCTTGGAAG -3'

Posted On

2021-11-19