Mutagenetix > Incidental Mutation

Incidental Mutation 'R6251:Casq1'

506203

Institutional Source

Beutler Lab

Gene Symbol

Casq1

Ensembl Gene

ENSMUSG00000007122

Gene Name

calsequestrin 1

Synonyms

CSQ-1, CSQ, sCSQ, CSQ1

MMRRC Submission

044368-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6251 (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 172044407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 140 (Y140F)

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: Y140F

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000003554
Gene: ENSMUSG00000007122
AA Change: Y140F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170638

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171429

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,445 (GRCm39)	S36P	probably damaging	Het
Agmo	A	G	12: 37,302,538 (GRCm39)	D125G	probably damaging	Het
Arhgap26	A	T	18: 39,490,880 (GRCm39)	S328C	probably null	Het
Arl6	T	C	16: 59,439,169 (GRCm39)	D175G	probably damaging	Het
Asb3	G	A	11: 31,005,559 (GRCm39)	A192T	probably damaging	Het
Atp10b	A	T	11: 43,126,573 (GRCm39)	M1110L	possibly damaging	Het
Cacna1i	T	C	15: 80,220,883 (GRCm39)	I175T	probably damaging	Het
Car15	A	T	16: 17,655,227 (GRCm39)	I71N	probably benign	Het
Ccdc93	C	T	1: 121,362,269 (GRCm39)	T17M	possibly damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Ciart	G	A	3: 95,788,323 (GRCm39)		probably benign	Het
Cul5	A	T	9: 53,558,094 (GRCm39)	V170D	probably benign	Het
Cyb5r3	T	C	15: 83,038,917 (GRCm39)	D224G	probably benign	Het
Daam1	G	A	12: 72,035,723 (GRCm39)	G964R	probably damaging	Het
Daglb	T	A	5: 143,475,689 (GRCm39)	L383Q	probably damaging	Het
Dazap2	T	G	15: 100,514,864 (GRCm39)	H28Q	possibly damaging	Het
Dnttip2	A	T	3: 122,068,905 (GRCm39)	D40V	probably benign	Het
Dynlt2b	T	A	16: 32,245,727 (GRCm39)	D125E	possibly damaging	Het
Epn1	G	T	7: 5,098,925 (GRCm39)	D406Y	probably damaging	Het
Epn1	G	T	7: 5,098,935 (GRCm39)	R409L	probably damaging	Het
Evc	T	C	5: 37,457,843 (GRCm39)	T966A	probably benign	Het
Extl3	T	C	14: 65,314,375 (GRCm39)	D269G	probably damaging	Het
Gfra3	TGCGC	TGC	18: 34,828,864 (GRCm39)		probably null	Het
Gpr87	A	T	3: 59,086,528 (GRCm39)	F326I	probably damaging	Het
Hivep3	C	A	4: 119,952,137 (GRCm39)	P151H	probably damaging	Het
Kcnj14	T	A	7: 45,467,440 (GRCm39)	E302V	probably damaging	Het
Kdm5d	T	C	Y: 921,693 (GRCm39)	Y534H	probably damaging	Homo
Map3k5	T	A	10: 20,014,006 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,748,590 (GRCm39)	T4212A	probably benign	Het
Ms4a6d	A	T	19: 11,564,504 (GRCm39)	S122R	probably damaging	Het
Mtarc1	G	A	1: 184,527,648 (GRCm39)	R271W	probably damaging	Het
Nectin3	A	T	16: 46,215,513 (GRCm39)	H76Q	probably damaging	Het
Notch1	C	A	2: 26,364,182 (GRCm39)	E846D	possibly damaging	Het
Or1e23	A	G	11: 73,407,534 (GRCm39)	S164P	probably benign	Het
Or4a67	T	C	2: 88,598,632 (GRCm39)	E9G	probably damaging	Het
Or8b36	GTTT	GTTTGCTTTTT	9: 37,937,842 (GRCm39)		probably null	Het
Or8b36	TT	TTGCTGTGT	9: 37,937,844 (GRCm39)		probably null	Het
Or8b36	G	GGGATTGC	9: 37,937,833 (GRCm39)		probably null	Het
Or8b36	TGTTT	TGTTTGCAGTTT	9: 37,937,841 (GRCm39)		probably null	Het
Or8g18	T	A	9: 39,149,514 (GRCm39)	I72F	possibly damaging	Het
Pfkl	C	T	10: 77,825,399 (GRCm39)		probably null	Het
Pigz	T	C	16: 31,764,424 (GRCm39)	V494A	possibly damaging	Het
Pik3r4	T	C	9: 105,531,247 (GRCm39)	V516A	probably benign	Het
Polr2b	G	A	5: 77,496,141 (GRCm39)	R1104K	probably benign	Het
Rap1a	A	T	3: 105,639,311 (GRCm39)	L116*	probably null	Het
Rnf114	T	C	2: 167,356,649 (GRCm39)	*230R	probably null	Het
Rtl1	G	T	12: 109,560,083 (GRCm39)	N585K	probably benign	Het
Serpinb5	G	T	1: 106,802,795 (GRCm39)	R110I	possibly damaging	Het
Spink6	T	C	18: 44,207,498 (GRCm39)		probably null	Het
Spopfm1	G	T	3: 94,173,208 (GRCm39)	S72I	probably damaging	Het
Stk39	A	T	2: 68,137,383 (GRCm39)		probably null	Het
Tcstv2a	T	C	13: 120,724,907 (GRCm39)		probably benign	Het
Tcte1	A	T	17: 45,846,085 (GRCm39)	T230S	probably benign	Het
Tecpr1	C	A	5: 144,135,394 (GRCm39)	V1020L	probably damaging	Het
Tmc7	T	C	7: 118,160,261 (GRCm39)	Y192C	possibly damaging	Het
Trim63	A	T	4: 134,050,537 (GRCm39)	T274S	probably benign	Het
Wdr43	G	A	17: 71,957,048 (GRCm39)		probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	probably benign	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
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'- GCATGAGAATGCATTGTATGTATGT -3'
(R):5'- CTGAACTAATTTGGGAATGAAGGGT -3'

Sequencing Primer
(F):5'- CACACACATATAGGGGCCTATATATG -3'
(R):5'- CTAATTTGGGAATGAAGGGTTTAAGG -3'

Posted On

2018-03-15