Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4377001:Casq1'

554903

Institutional Source

Beutler Lab

Gene Symbol

Casq1

Ensembl Gene

ENSMUSG00000007122

Gene Name

calsequestrin 1

Synonyms

CSQ-1, CSQ, sCSQ, CSQ1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4377001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

172037461-172047435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 172039568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 336 (T336S)

Ref Sequence

ENSEMBL: ENSMUSP00000003554 (fasta)

Gene Model

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

AlphaFold

O09165

Predicted Effect

probably benign
Transcript: ENSMUST00000003554
AA Change: T336S

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000003554
Gene: ENSMUSG00000007122
AA Change: T336S

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: 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: 92.9%
3x: 90.8%
10x: 85.9%
20x: 75.6%

Validation Efficiency

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
1700009N14Rik	T	C	4: 39,451,129 (GRCm39)	C112R	possibly damaging	Het
Acadl	G	A	1: 66,877,564 (GRCm39)	T329M	probably damaging	Het
Adgrv1	A	G	13: 81,677,104 (GRCm39)	L1909P	probably damaging	Het
Aff3	A	C	1: 38,578,044 (GRCm39)	V31G	probably damaging	Het
Bag3	A	G	7: 128,147,441 (GRCm39)	D352G	probably damaging	Het
Bcas3	A	T	11: 85,386,668 (GRCm39)	T368S	probably damaging	Het
Bmp3	A	G	5: 99,027,608 (GRCm39)	I434V	unknown	Het
Cib2	T	G	9: 54,467,271 (GRCm39)	E11A	probably damaging	Het
Cttn	C	A	7: 143,993,833 (GRCm39)	E393D	possibly damaging	Het
Dchs1	G	A	7: 105,406,795 (GRCm39)	R2237W	probably damaging	Het
Dclre1a	C	T	19: 56,532,837 (GRCm39)	A586T	probably benign	Het
Defb1	C	A	8: 22,266,716 (GRCm39)	Q17K	possibly damaging	Het
Dgat2	T	C	7: 98,806,342 (GRCm39)	Y285C	probably damaging	Het
Dhx57	A	T	17: 80,571,404 (GRCm39)	F732Y	probably damaging	Het
Dock2	T	G	11: 34,611,835 (GRCm39)	D176A	probably benign	Het
Epha6	A	G	16: 60,025,915 (GRCm39)	I509T	probably damaging	Het
Fblim1	C	T	4: 141,322,720 (GRCm39)	R21H	probably damaging	Het
Fbxw20	T	A	9: 109,050,795 (GRCm39)	H371L	probably benign	Het
Foxa1	T	A	12: 57,589,567 (GRCm39)	I218F	probably damaging	Het
Fstl1	A	T	16: 37,636,167 (GRCm39)	I53F	probably benign	Het
Gdnf	A	G	15: 7,864,011 (GRCm39)	R141G	probably benign	Het
Gemin7	G	A	7: 19,299,242 (GRCm39)	R118*	probably null	Het
Gm43218	T	C	6: 70,217,565 (GRCm39)	T64A	probably benign	Het
Gnat3	G	A	5: 18,220,557 (GRCm39)	M243I		Het
Gramd1a	A	T	7: 30,843,095 (GRCm39)	I71N	possibly damaging	Het
H4c12	C	G	13: 21,934,654 (GRCm39)	G8R	unknown	Het
Htt	A	T	5: 35,033,309 (GRCm39)	D1859V	probably benign	Het
Hyal1	T	C	9: 107,456,468 (GRCm39)	F415S	probably damaging	Het
Ighv1-47	T	C	12: 114,954,858 (GRCm39)	N74S	probably benign	Het
Igkv1-131	T	C	6: 67,743,192 (GRCm39)	R64G	probably benign	Het
Itgb1	T	A	8: 129,436,864 (GRCm39)	V95D	probably damaging	Het
Jak1	A	C	4: 101,036,748 (GRCm39)	N297K	probably benign	Het
Kcna4	T	A	2: 107,127,205 (GRCm39)	N646K	possibly damaging	Het
Krt42	A	G	11: 100,153,931 (GRCm39)	S442P	probably damaging	Het
Mcm3ap	G	A	10: 76,338,596 (GRCm39)	S1408N	possibly damaging	Het
Mdga2	T	A	12: 66,763,469 (GRCm39)	Q278L	probably damaging	Het
Mkln1	C	T	6: 31,451,289 (GRCm39)	T410M	probably damaging	Het
Nav3	T	C	10: 109,552,466 (GRCm39)	E1792G	probably damaging	Het
Ndrg1	A	G	15: 66,820,288 (GRCm39)	C49R	probably benign	Het
Neurl4	A	G	11: 69,801,232 (GRCm39)	H1201R	probably benign	Het
Nfasc	T	C	1: 132,510,804 (GRCm39)	Y1073C	unknown	Het
Nrbp2	A	G	15: 75,958,945 (GRCm39)	Y253H	probably benign	Het
Or10c1	T	A	17: 37,521,980 (GRCm39)	I255F	probably benign	Het
Or4g16	T	A	2: 111,137,225 (GRCm39)	V225D	probably damaging	Het
Or4k45	T	C	2: 111,395,556 (GRCm39)	T78A	probably damaging	Het
Pcsk5	A	T	19: 17,416,466 (GRCm39)	C1661S	probably damaging	Het
Qsox2	T	G	2: 26,110,924 (GRCm39)	D147A	probably damaging	Het
Siglec15	T	A	18: 78,100,590 (GRCm39)		probably benign	Het
Skint5	T	A	4: 113,454,900 (GRCm39)	T1011S	unknown	Het
Slc9a2	A	G	1: 40,783,001 (GRCm39)	T422A	probably damaging	Het
Tert	C	T	13: 73,776,380 (GRCm39)	T377I	possibly damaging	Het
Tex15	T	A	8: 34,061,129 (GRCm39)	S186R	probably damaging	Het
Tgfb1	A	G	7: 25,396,343 (GRCm39)	D212G	probably benign	Het
Tnc	T	G	4: 63,935,973 (GRCm39)	D321A	probably damaging	Het
Topbp1	G	A	9: 103,187,088 (GRCm39)	E98K	possibly damaging	Het
Ugp2	C	A	11: 21,320,203 (GRCm39)	M1I	probably null	Het
Vipr2	G	A	12: 116,058,418 (GRCm39)	D112N	probably benign	Het
Vps13a	T	C	19: 16,718,265 (GRCm39)	E485G	probably damaging	Het
Vps37a	T	A	8: 40,990,087 (GRCm39)	I198N	possibly damaging	Het
Zbtb9	T	C	17: 27,193,735 (GRCm39)	V380A	probably damaging	Het
Zfhx4	G	C	3: 5,307,802 (GRCm39)	V343L	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
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
R9292:Casq1	UTSW	1	172,043,114 (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'- CAGTGCTCGTTTCCTTGACAG -3'
(R):5'- TTTACCTACAACCCAGTGTCTG -3'

Sequencing Primer
(F):5'- CGTTTCCTTGACAGTCAGAGAAC -3'
(R):5'- GGTTGCTGGCTGTCCCTC -3'

Posted On

2019-06-07