Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02165:Casq1'

282634

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02165

Quality Score

Status

Chromosome

Chromosomal Location

172037461-172047435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172040948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 280 (L280P)

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: L280P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003554
Gene: ENSMUSG00000007122
AA Change: L280P

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,904,586 (GRCm39)	M199K	possibly damaging	Het
Abo	C	A	2: 26,733,441 (GRCm39)	V255L	probably damaging	Het
Alas1	A	T	9: 106,115,982 (GRCm39)	M344K	probably damaging	Het
Ap1m1	A	G	8: 73,003,653 (GRCm39)	I118V	probably benign	Het
Ap5m1	A	T	14: 49,316,185 (GRCm39)	I252F	possibly damaging	Het
Arhgef2	G	A	3: 88,553,527 (GRCm39)	R886H	probably damaging	Het
Atp13a4	T	C	16: 29,252,828 (GRCm39)	E706G	probably damaging	Het
Baz2a	C	A	10: 127,955,218 (GRCm39)	A775E	probably benign	Het
C3	A	T	17: 57,532,092 (GRCm39)	F210I	probably benign	Het
Cebpz	A	G	17: 79,229,598 (GRCm39)	F919L	probably damaging	Het
Commd1b	A	T	11: 22,932,072 (GRCm39)		probably benign	Het
Dclre1c	T	A	2: 3,451,418 (GRCm39)		probably benign	Het
Dsc3	T	G	18: 20,116,709 (GRCm39)	M276L	probably benign	Het
Dync2i2	T	C	2: 29,922,172 (GRCm39)	T430A	probably benign	Het
Eftud2	A	G	11: 102,742,573 (GRCm39)		probably benign	Het
Elfn2	T	A	15: 78,557,618 (GRCm39)	T310S	probably benign	Het
Ep300	A	G	15: 81,525,592 (GRCm39)	K1472R	probably benign	Het
Fbxl2	T	C	9: 113,847,099 (GRCm39)	D8G	probably benign	Het
Galnt5	T	A	2: 57,888,877 (GRCm39)	M159K	probably benign	Het
Hars2	T	A	18: 36,916,447 (GRCm39)	M1K	probably null	Het
Hk1	T	C	10: 62,117,667 (GRCm39)	T619A	probably damaging	Het
Ifi44	C	T	3: 151,455,067 (GRCm39)	V53M	probably damaging	Het
Ippk	T	A	13: 49,600,011 (GRCm39)	V339D	possibly damaging	Het
Kcnma1	G	T	14: 23,387,035 (GRCm39)	N875K	possibly damaging	Het
Kdm5a	T	A	6: 120,392,251 (GRCm39)	V991E	probably damaging	Het
Larp6	A	G	9: 60,620,595 (GRCm39)	E36G	probably benign	Het
Lonp2	A	T	8: 87,435,654 (GRCm39)	D210V	probably damaging	Het
Lrrc4c	G	A	2: 97,459,378 (GRCm39)	M1I	probably null	Het
Mmp2	A	G	8: 93,559,847 (GRCm39)	K270R	probably null	Het
Nexmif	C	T	X: 103,128,360 (GRCm39)	V1186I	probably benign	Het
Or11g2	A	G	14: 50,856,468 (GRCm39)	Y263C	probably damaging	Het
Or1x2	A	T	11: 50,918,470 (GRCm39)	I214F	probably benign	Het
Pld2	T	C	11: 70,446,503 (GRCm39)	L763P	probably damaging	Het
Pold1	A	T	7: 44,187,484 (GRCm39)	F644L	probably damaging	Het
Prrc2b	T	C	2: 32,104,652 (GRCm39)	S1377P	probably damaging	Het
Rps18-ps6	T	G	13: 97,896,648 (GRCm39)	K150T	probably benign	Het
Rttn	A	G	18: 89,061,165 (GRCm39)	D1111G	probably benign	Het
Slc27a5	A	G	7: 12,728,875 (GRCm39)	V130A	probably damaging	Het
Slfn8	T	C	11: 82,908,022 (GRCm39)	R174G	probably benign	Het
Slitrk6	G	A	14: 110,989,249 (GRCm39)	P153S	probably benign	Het
Sorcs3	T	C	19: 48,642,511 (GRCm39)	I388T	probably benign	Het
Star	A	T	8: 26,302,843 (GRCm39)	T262S	possibly damaging	Het
Strn	A	T	17: 78,995,049 (GRCm39)	W2R	probably damaging	Het
Tnmd	T	C	X: 132,763,701 (GRCm39)	S172P	probably damaging	Het
Togaram2	A	G	17: 72,004,861 (GRCm39)	K305R	probably benign	Het
Trhde	C	A	10: 114,428,066 (GRCm39)	W410L	probably damaging	Het
Trim5	C	T	7: 103,928,566 (GRCm39)	R125Q	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vmn1r80	T	A	7: 11,927,379 (GRCm39)	M163K	probably benign	Het
Wnk4	C	A	11: 101,166,117 (GRCm39)		probably benign	Het
Zfp277	T	A	12: 40,365,802 (GRCm39)	I430F	possibly damaging	Het
Zfp566	A	T	7: 29,777,255 (GRCm39)	C309S	probably damaging	Het
Zfp740	T	G	15: 102,121,109 (GRCm39)	F141V	possibly damaging	Het
Zfp87	T	A	13: 67,665,989 (GRCm39)	I158F	probably damaging	Het
Zswim3	C	A	2: 164,663,035 (GRCm39)	A505D	possibly damaging	Het

Other mutations in Casq1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16