Mutagenetix > Incidental Mutations

Incidental Mutation 'R0026:Casq1'

189159

Institutional Source

Beutler Lab

Gene Symbol

Casq1

Ensembl Gene

ENSMUSG00000007122

Gene Name

calsequestrin 1

Synonyms

CSQ-1, CSQ1, CSQ, sCSQ

MMRRC Submission

038321-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

172209894-172219868 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 172219400 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003554] [ENSMUST00000111243] [ENSMUST00000170700]

AlphaFold

O09165

Predicted Effect

probably benign
Transcript: ENSMUST00000003554

SMART Domains

Protein: ENSMUSP00000003554
Gene: ENSMUSG00000007122

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 benign
Transcript: ENSMUST00000111243

SMART Domains

Protein: ENSMUSP00000106874
Gene: ENSMUSG00000007107

Domain	Start	End	E-Value	Type
low complexity region	33	50	N/A	INTRINSIC
Cation_ATPase_N	51	125	1.22e-14	SMART
Pfam:E1-E2_ATPase	144	375	2.6e-59	PFAM
Pfam:Hydrolase	380	738	8.1e-19	PFAM
Pfam:HAD	383	735	1.6e-17	PFAM
Pfam:Cation_ATPase	437	531	9.2e-25	PFAM
Pfam:Cation_ATPase_C	808	1017	1.2e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170700

SMART Domains

Protein: ENSMUSP00000129647
Gene: ENSMUSG00000007122

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: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,066,805	I585N	possibly damaging	Het
4931408C20Rik	T	A	1: 26,683,369	D910V	probably benign	Het
A830005F24Rik	C	T	13: 48,514,372		probably benign	Het
Abca16	C	T	7: 120,477,923		probably benign	Het
Acot10	G	A	15: 20,666,236	L140F	probably benign	Het
Adam19	G	T	11: 46,136,259	C573F	probably damaging	Het
Aff3	A	G	1: 38,203,893	S948P	probably benign	Het
Anxa3	T	A	5: 96,838,401	Y300N	probably benign	Het
BC016579	T	C	16: 45,640,367	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733	L113P	probably benign	Het
Cdc16	T	A	8: 13,759,130		probably null	Het
Cep135	C	T	5: 76,606,734	R353*	probably null	Het
Cma1	A	T	14: 55,942,164	C188S	probably damaging	Het
Csf3r	A	G	4: 126,031,884	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,647,521	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,477,784	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,727,363	Q203*	probably null	Het
Ephb3	A	G	16: 21,214,917	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,597,691	T118N	probably damaging	Het
Gm10801	T	C	2: 98,663,909		probably benign	Het
Got1l1	C	T	8: 27,200,248	V132I	probably benign	Het
H2-M9	T	C	17: 36,641,527		probably benign	Het
Ibtk	A	G	9: 85,690,303	V1278A	probably benign	Het
Kctd3	T	C	1: 188,976,621	T519A	probably damaging	Het
Lgsn	T	A	1: 31,203,443	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708	F381L	possibly damaging	Het
Map1s	G	A	8: 70,914,638	G729D	probably damaging	Het
Mlycd	A	G	8: 119,410,435	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,447,204	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,482,023	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,438,429	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,591,573	D773G	probably damaging	Het
Nxnl1	A	G	8: 71,566,573	S3P	probably damaging	Het
Olfr109	T	A	17: 37,466,803	V199D	probably damaging	Het
Olfr921	G	A	9: 38,775,596	V114I	probably benign	Het
Otud7a	T	C	7: 63,735,801	F338L	probably benign	Het
Pdcl3	T	A	1: 38,991,280	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,594,930		probably benign	Het
Prpf31	T	A	7: 3,639,668	N413K	probably benign	Het
Rapgef5	T	C	12: 117,689,161	S307P	probably benign	Het
Relt	C	A	7: 100,850,221	E164*	probably null	Het
Rnf185	T	C	11: 3,426,617	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,741	E21G	probably benign	Het
Scn5a	A	G	9: 119,522,566	I783T	probably damaging	Het
Senp1	T	C	15: 98,076,668	R88G	probably damaging	Het
Skint5	A	T	4: 113,546,468		probably benign	Het
Slc35b1	T	C	11: 95,390,642	S294P	probably benign	Het
Slc5a2	T	A	7: 128,270,053	I335N	probably damaging	Het
Sstr1	T	A	12: 58,212,858	M89K	probably damaging	Het
Szt2	A	T	4: 118,384,772	S1612R	possibly damaging	Het
Taf1c	T	C	8: 119,604,236		probably null	Het
Taf1d	T	A	9: 15,308,648	S64R	probably damaging	Het
Tmem125	A	G	4: 118,542,073	S54P	possibly damaging	Het
Ttf1	T	A	2: 29,071,349	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,235,371		probably null	Het
Unc5b	A	T	10: 60,774,592	I482N	possibly damaging	Het
Unc80	C	A	1: 66,521,584	Q824K	probably benign	Het
Utrn	T	C	10: 12,726,196		probably benign	Het
Vmn2r61	T	G	7: 42,275,474	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,301	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,345,160	L240*	probably null	Het

Other mutations in Casq1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02165:Casq1	APN	1	172213381	missense	probably damaging	0.96
IGL02699:Casq1	APN	1	172219696	start gained	probably benign
IGL02756:Casq1	APN	1	172215105	missense	probably damaging	1.00
PIT4377001:Casq1	UTSW	1	172212001	missense	probably benign	0.15
R0026:Casq1	UTSW	1	172219400	splice site	probably benign
R0124:Casq1	UTSW	1	172210425	missense	probably damaging	1.00
R0485:Casq1	UTSW	1	172210390	unclassified	probably benign
R1982:Casq1	UTSW	1	172215530	missense	probably damaging	1.00
R2095:Casq1	UTSW	1	172215962	missense	probably benign	0.26
R2097:Casq1	UTSW	1	172210421	missense	probably damaging	1.00
R3940:Casq1	UTSW	1	172219536	missense	possibly damaging	0.91
R4654:Casq1	UTSW	1	172210398	unclassified	probably benign
R4790:Casq1	UTSW	1	172216837	missense	probably damaging	1.00
R5002:Casq1	UTSW	1	172213378	missense	possibly damaging	0.50
R5187:Casq1	UTSW	1	172213074	missense	possibly damaging	0.54
R5307:Casq1	UTSW	1	172219416	missense	probably damaging	1.00
R5973:Casq1	UTSW	1	172219501	missense	probably damaging	1.00
R6251:Casq1	UTSW	1	172216840	missense	probably benign	0.17
R6768:Casq1	UTSW	1	172219678	missense	probably benign	0.04
R7380:Casq1	UTSW	1	172216849	missense	probably benign	0.07
R9014:Casq1	UTSW	1	172210497	missense	probably damaging	1.00
R9292:Casq1	UTSW	1	172215547	missense	probably damaging	1.00
Z1176:Casq1	UTSW	1	172215914	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTCTGTGGGAAGCCTCTAGAAG -3'
(R):5'- CGTGTGATCAATGTGAACGCCAAG -3'

Sequencing Primer
(F):5'- GGGAAGCCTCTAGAAGTCATTTAAC -3'
(R):5'- TGTGAACGCCAAGAACTACAAG -3'

Posted On

2014-05-13