Mutagenetix > Incidental Mutation

Incidental Mutation 'R6768:Casq1'

532023

Institutional Source

Beutler Lab

Gene Symbol

Casq1

Ensembl Gene

ENSMUSG00000007122

Gene Name

calsequestrin 1

Synonyms

CSQ-1, CSQ, sCSQ, CSQ1

MMRRC Submission

044884-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6768 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

172037461-172047435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 172047245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 5 (D5N)

Ref Sequence

ENSEMBL: ENSMUSP00000003554 (fasta)

Gene Model

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

AlphaFold

O09165

Predicted Effect

probably benign
Transcript: ENSMUST00000003554
AA Change: D5N

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000003554
Gene: ENSMUSG00000007122
AA Change: D5N

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
AA Change: D5N

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000129647
Gene: ENSMUSG00000007122
AA Change: D5N

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

Meta Mutation Damage Score

0.0865

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 97.2%

Validation Efficiency

96% (45/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	G	A	12: 113,453,863 (GRCm39)	V227I	probably benign	Het
Agtrap	A	G	4: 148,166,067 (GRCm39)	V106A	probably benign	Het
Aldh3a2	A	C	11: 61,144,536 (GRCm39)	S341A	probably benign	Het
Bmper	T	A	9: 23,292,749 (GRCm39)	C353S	probably damaging	Het
Ccin	G	A	4: 43,984,574 (GRCm39)	R327H	probably benign	Het
Chuk	A	G	19: 44,085,390 (GRCm39)	V252A	probably damaging	Het
Colec11	T	C	12: 28,645,100 (GRCm39)		probably null	Het
Cpeb3	G	A	19: 37,002,432 (GRCm39)	T643I	possibly damaging	Het
Cstpp1	A	T	2: 91,252,303 (GRCm39)	H19Q	probably damaging	Het
Ctcfl	A	G	2: 172,959,084 (GRCm39)	V214A	possibly damaging	Het
Dst	A	G	1: 34,220,793 (GRCm39)	E2199G	probably damaging	Het
Eno2	T	C	6: 124,744,711 (GRCm39)	E45G	probably damaging	Het
Foxa2	T	C	2: 147,885,747 (GRCm39)	H181R	probably damaging	Het
Fpgs	A	G	2: 32,576,635 (GRCm39)	S331P	probably benign	Het
Gm47189	A	G	14: 41,492,035 (GRCm39)	S81P	probably benign	Het
Igsf8	C	A	1: 172,145,099 (GRCm39)	P142Q	probably damaging	Het
Islr	G	T	9: 58,064,893 (GRCm39)	Q205K	possibly damaging	Het
Josd1	A	G	15: 79,561,323 (GRCm39)	W162R	probably benign	Het
Lrrc37a	G	A	11: 103,390,949 (GRCm39)	T1492I	probably benign	Het
Meox1	A	G	11: 101,770,161 (GRCm39)	F189L	probably damaging	Het
Mtf1	G	A	4: 124,731,578 (GRCm39)	D385N	probably benign	Het
Naip2	A	T	13: 100,314,832 (GRCm39)	C315*	probably null	Het
Ncaph2	T	A	15: 89,248,202 (GRCm39)	Y166*	probably null	Het
Nr1i3	G	A	1: 171,044,966 (GRCm39)	V270M	probably damaging	Het
Or11h4b	A	G	14: 50,919,049 (GRCm39)	L14S	probably damaging	Het
Or13c7	T	C	4: 43,854,351 (GRCm39)	I14T	probably benign	Het
Panx3	T	C	9: 37,575,322 (GRCm39)	K180R	probably benign	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Reln	A	C	5: 22,183,905 (GRCm39)	V1698G	probably damaging	Het
Rnf213	G	T	11: 119,333,062 (GRCm39)	R2757L	probably damaging	Het
Scgb2b26	G	T	7: 33,644,379 (GRCm39)	T4K	probably damaging	Het
Sdhb	A	G	4: 140,706,364 (GRCm39)	E267G	probably damaging	Het
Sorbs1	A	T	19: 40,315,991 (GRCm39)	N383K	probably damaging	Het
Stk11ip	T	A	1: 75,509,279 (GRCm39)	C766S	probably benign	Het
Taf6l	A	C	19: 8,751,913 (GRCm39)	S592A	probably damaging	Het
Tmem145	G	A	7: 25,008,061 (GRCm39)	G235D	probably damaging	Het
Tuba3b	T	A	6: 145,564,455 (GRCm39)		probably null	Het
Ubl7	A	T	9: 57,820,045 (GRCm39)	E32D	probably benign	Het
Vmn1r168	A	T	7: 23,240,460 (GRCm39)	T106S	probably damaging	Het
Vmn2r59	C	A	7: 41,661,392 (GRCm39)	V808F	probably benign	Het
Vmn2r61	C	T	7: 41,949,748 (GRCm39)	P723S	probably damaging	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp11	G	T	5: 129,735,415 (GRCm39)	D15E	probably benign	Het
Zfp428	G	A	7: 24,214,908 (GRCm39)	G162R	probably damaging	Het
Zfp629	G	A	7: 127,209,997 (GRCm39)	T604I	probably benign	Het
Zfpm1	C	A	8: 123,061,195 (GRCm39)	D253E	probably damaging	Het
Zhx1	G	T	15: 57,917,499 (GRCm39)	T249K	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
R6251:Casq1	UTSW	1	172,044,407 (GRCm39)	missense	probably benign	0.17
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'- AATTGTCTCTGCGAGGCCTTG -3'
(R):5'- TCTGTCGGCAGTTTCTCCAG -3'

Sequencing Primer
(F):5'- GAGGGCCAGCACCTCATACTTC -3'
(R):5'- AGTTTCTCCAGGACCCAGCAG -3'

Posted On

2018-08-29