Mutagenetix > Incidental Mutation

Incidental Mutation 'R9292:Casq1'

704316

Institutional Source

Beutler Lab

Gene Symbol

Casq1

Ensembl Gene

ENSMUSG00000007122

Gene Name

calsequestrin 1

Synonyms

CSQ-1, CSQ, sCSQ, CSQ1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172037461-172047435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172043114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 194 (Y194C)

Ref Sequence

ENSEMBL: ENSMUSP00000003554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003554] [ENSMUST00000170700]

AlphaFold

O09165

Predicted Effect

probably damaging
Transcript: ENSMUST00000003554
AA Change: Y194C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003554
Gene: ENSMUSG00000007122
AA Change: Y194C

Domain	Start	End	E-Value	Type
Pfam:Calsequestrin	11	402	5.3e-238	PFAM
Pfam:Thioredoxin_6	186	379	2e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170700
AA Change: Y132C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129647
Gene: ENSMUSG00000007122
AA Change: Y132C

Domain	Start	End	E-Value	Type
Pfam:Calsequestrin	11	94	9.7e-38	PFAM
Pfam:Calsequestrin	89	156	6.9e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for an insertional mutation that inactivates the gene exhibit structural alterations of the Ca2+ release units, an increased frequency of mitochondria, and significantly impaired calcium handling in skeletal muscle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,862,843 (GRCm39)	T175I	probably benign	Het
Acat3	T	C	17: 13,146,255 (GRCm39)	T243A	probably benign	Het
Aebp1	C	A	11: 5,815,260 (GRCm39)	P264Q	possibly damaging	Het
Aldh1l1	T	C	6: 90,568,867 (GRCm39)	F723L	probably damaging	Het
Atp13a4	T	A	16: 29,241,500 (GRCm39)	I723F		Het
Bop1	T	C	15: 76,351,031 (GRCm39)	T97A	probably benign	Het
Cep250	G	A	2: 155,832,688 (GRCm39)	E1538K	probably damaging	Het
Col12a1	A	T	9: 79,585,805 (GRCm39)	V1218E	probably benign	Het
Coq10b	T	A	1: 55,110,868 (GRCm39)	M212K	probably damaging	Het
Dchs1	T	C	7: 105,403,120 (GRCm39)	T3141A	probably damaging	Het
Dnajc10	A	G	2: 80,176,916 (GRCm39)	T624A	probably benign	Het
Dock8	A	G	19: 25,160,995 (GRCm39)		probably benign	Het
Dsg1c	T	A	18: 20,416,775 (GRCm39)	V892E	probably damaging	Het
Eif4g3	A	G	4: 137,921,382 (GRCm39)	R1370G	possibly damaging	Het
Elmo1	T	G	13: 20,784,429 (GRCm39)		probably null	Het
Erc2	T	A	14: 27,498,799 (GRCm39)	I225N	probably damaging	Het
Ermp1	C	A	19: 29,606,049 (GRCm39)	V422L	probably benign	Het
Fam124b	T	A	1: 80,191,221 (GRCm39)	H54L	probably benign	Het
Gabbr1	T	G	17: 37,366,784 (GRCm39)	I336S	possibly damaging	Het
Galk2	T	C	2: 125,817,218 (GRCm39)	Y336H	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Grm4	A	G	17: 27,692,037 (GRCm39)	F194S	probably damaging	Het
Gtf2a1	G	A	12: 91,534,964 (GRCm39)	Q189*	probably null	Het
Gtf3c1	T	C	7: 125,273,563 (GRCm39)		probably benign	Het
Hspa2	A	G	12: 76,452,047 (GRCm39)	E247G	probably damaging	Het
Lpar1	T	C	4: 58,486,558 (GRCm39)	R238G	probably benign	Het
Ltbp1	C	A	17: 75,583,436 (GRCm39)	S412Y	probably damaging	Het
Nup210	A	C	6: 91,051,235 (GRCm39)	S383A	possibly damaging	Het
Or10j3	C	T	1: 173,031,099 (GRCm39)	P59S	probably damaging	Het
Or11g2	T	C	14: 50,856,513 (GRCm39)	V278A	possibly damaging	Het
Or8b51	T	A	9: 38,569,071 (GRCm39)	N206Y	probably damaging	Het
Pah	T	A	10: 87,403,218 (GRCm39)	Y198N	probably damaging	Het
Pcdhga4	A	T	18: 37,819,713 (GRCm39)	I421L	probably benign	Het
Pde6b	T	C	5: 108,536,751 (GRCm39)	I149T	probably benign	Het
Peli3	G	A	19: 4,988,117 (GRCm39)	P81L	possibly damaging	Het
Pfdn5	T	C	15: 102,234,883 (GRCm39)	S30P	possibly damaging	Het
Plcb3	A	T	19: 6,942,042 (GRCm39)	L263Q	probably damaging	Het
Pld3	T	C	7: 27,238,879 (GRCm39)	M190V	probably benign	Het
Rab6a	A	G	7: 100,285,963 (GRCm39)	E186G	probably benign	Het
Ralyl	T	A	3: 14,172,312 (GRCm39)	D60E	probably benign	Het
Rtl1	G	A	12: 109,556,673 (GRCm39)	A1722V	possibly damaging	Het
Scarf1	T	C	11: 75,406,006 (GRCm39)	Y97H	probably damaging	Het
Sf3a2	T	A	10: 80,640,560 (GRCm39)	V457E	unknown	Het
Sh2d4b	C	G	14: 40,537,914 (GRCm39)	E403Q	probably damaging	Het
Slc12a7	A	G	13: 73,932,707 (GRCm39)	E65G	possibly damaging	Het
Spink5	T	C	18: 44,148,075 (GRCm39)	V905A	possibly damaging	Het
Spred1	T	C	2: 117,005,832 (GRCm39)	F198S	probably benign	Het
St18	C	A	1: 6,898,106 (GRCm39)	T636K	probably benign	Het
Stag3	T	A	5: 138,299,712 (GRCm39)	D874E	probably benign	Het
Suco	T	C	1: 161,671,574 (GRCm39)	T502A	probably damaging	Het
Swt1	T	C	1: 151,278,787 (GRCm39)	I457V	probably benign	Het
Syne2	G	T	12: 75,997,823 (GRCm39)	C2266F	probably benign	Het
Tcirg1	T	C	19: 3,947,840 (GRCm39)	N532D	probably damaging	Het
Tfdp1	T	A	8: 13,420,580 (GRCm39)	N136K	probably benign	Het
Tmem245	T	C	4: 56,926,173 (GRCm39)		probably benign	Het
Tmem245	T	C	4: 56,937,979 (GRCm39)	I190V	probably benign	Het
Trp53bp1	C	T	2: 121,046,177 (GRCm39)	V1208M	probably damaging	Het
Tulp1	T	A	17: 28,582,738 (GRCm39)	K137*	probably null	Het
Zfp534	A	T	4: 147,759,095 (GRCm39)	C525S	probably damaging	Het

Other mutations in Casq1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02165:Casq1	APN	1	172,040,948 (GRCm39)	missense	probably damaging	0.96
IGL02699:Casq1	APN	1	172,047,263 (GRCm39)	start gained	probably benign
IGL02756:Casq1	APN	1	172,042,672 (GRCm39)	missense	probably damaging	1.00
PIT4377001:Casq1	UTSW	1	172,039,568 (GRCm39)	missense	probably benign	0.15
R0026:Casq1	UTSW	1	172,046,967 (GRCm39)	splice site	probably benign
R0026:Casq1	UTSW	1	172,046,967 (GRCm39)	splice site	probably benign
R0124:Casq1	UTSW	1	172,037,992 (GRCm39)	missense	probably damaging	1.00
R0485:Casq1	UTSW	1	172,037,957 (GRCm39)	unclassified	probably benign
R1982:Casq1	UTSW	1	172,043,097 (GRCm39)	missense	probably damaging	1.00
R2095:Casq1	UTSW	1	172,043,529 (GRCm39)	missense	probably benign	0.26
R2097:Casq1	UTSW	1	172,037,988 (GRCm39)	missense	probably damaging	1.00
R3940:Casq1	UTSW	1	172,047,103 (GRCm39)	missense	possibly damaging	0.91
R4654:Casq1	UTSW	1	172,037,965 (GRCm39)	unclassified	probably benign
R4790:Casq1	UTSW	1	172,044,404 (GRCm39)	missense	probably damaging	1.00
R5002:Casq1	UTSW	1	172,040,945 (GRCm39)	missense	possibly damaging	0.50
R5187:Casq1	UTSW	1	172,040,641 (GRCm39)	missense	possibly damaging	0.54
R5307:Casq1	UTSW	1	172,046,983 (GRCm39)	missense	probably damaging	1.00
R5973:Casq1	UTSW	1	172,047,068 (GRCm39)	missense	probably damaging	1.00
R6251:Casq1	UTSW	1	172,044,407 (GRCm39)	missense	probably benign	0.17
R6768:Casq1	UTSW	1	172,047,245 (GRCm39)	missense	probably benign	0.04
R7380:Casq1	UTSW	1	172,044,416 (GRCm39)	missense	probably benign	0.07
R9014:Casq1	UTSW	1	172,038,064 (GRCm39)	missense	probably damaging	1.00
R9739:Casq1	UTSW	1	172,043,051 (GRCm39)	missense	possibly damaging	0.93
Z1176:Casq1	UTSW	1	172,043,481 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GACAGTCTAATGTCCACCTTCC -3'
(R):5'- ACGGTCAGCTCCATCATCTG -3'

Sequencing Primer
(F):5'- ACCTTCCCTTCAATTCTATAGGAG -3'
(R):5'- TGCACTCTGGGGCATTCC -3'

Posted On

2022-03-25