Incidental Mutation 'R2095:Casq1'
ID 232013
Institutional Source Beutler Lab
Gene Symbol Casq1
Ensembl Gene ENSMUSG00000007122
Gene Name calsequestrin 1
Synonyms CSQ-1, CSQ, sCSQ, CSQ1
MMRRC Submission 040099-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2095 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 172037461-172047435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172043529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 113 (N113S)
Ref Sequence ENSEMBL: ENSMUSP00000129647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003554] [ENSMUST00000170700]
AlphaFold O09165
Predicted Effect probably benign
Transcript: ENSMUST00000003554
AA Change: N175S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000003554
Gene: ENSMUSG00000007122
AA Change: N175S

DomainStartEndE-ValueType
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
AA Change: N113S

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129647
Gene: ENSMUSG00000007122
AA Change: N113S

DomainStartEndE-ValueType
Pfam:Calsequestrin 11 94 9.7e-38 PFAM
Pfam:Calsequestrin 89 156 6.9e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171429
Meta Mutation Damage Score 0.0798 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (58/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik C A 4: 122,596,151 (GRCm39) Y127* probably null Het
Adam33 C T 2: 130,895,629 (GRCm39) G562D probably damaging Het
Adh1 T C 3: 137,988,557 (GRCm39) F177L probably damaging Het
Arhgef17 T C 7: 100,530,470 (GRCm39) T1439A probably damaging Het
Arl5c C T 11: 97,884,277 (GRCm39) E105K probably damaging Het
Armc3 T A 2: 19,293,740 (GRCm39) D510E possibly damaging Het
Bbx T C 16: 50,045,052 (GRCm39) E395G possibly damaging Het
Cacna2d2 G A 9: 107,404,364 (GRCm39) E1087K probably benign Het
Cbfa2t3 A G 8: 123,361,727 (GRCm39) S432P probably benign Het
Ccn2 T C 10: 24,472,377 (GRCm39) V140A probably benign Het
Cd163 A G 6: 124,294,781 (GRCm39) D615G probably damaging Het
Chrnb2 A T 3: 89,668,744 (GRCm39) D190E probably benign Het
Clec9a T C 6: 129,393,321 (GRCm39) L115P possibly damaging Het
Cluh C T 11: 74,552,550 (GRCm39) R532* probably null Het
Cntnap5a T A 1: 116,369,990 (GRCm39) L869Q probably damaging Het
Cyp3a57 A T 5: 145,305,944 (GRCm39) K143* probably null Het
Dcaf12 G T 4: 41,294,085 (GRCm39) H351N probably benign Het
Dtna T A 18: 23,702,805 (GRCm39) L112Q probably damaging Het
Fnta G A 8: 26,489,907 (GRCm39) Q303* probably null Het
Frs2 T C 10: 116,910,507 (GRCm39) E285G probably benign Het
Gabra4 T C 5: 71,781,455 (GRCm39) I293V probably damaging Het
Gm2431 A T 7: 141,811,518 (GRCm39) C129S unknown Het
Gnl2 C T 4: 124,928,111 (GRCm39) R49C probably damaging Het
Helz T A 11: 107,536,972 (GRCm39) Y275N probably damaging Het
Hydin A G 8: 111,189,289 (GRCm39) E1231G probably damaging Het
Kctd11 T A 11: 69,770,402 (GRCm39) D212V probably damaging Het
Klf3 T A 5: 64,979,245 (GRCm39) M29K probably benign Het
Klhl21 T C 4: 152,093,850 (GRCm39) S151P probably benign Het
Lsm14b A T 2: 179,673,580 (GRCm39) probably benign Het
Mlxipl T C 5: 135,150,974 (GRCm39) probably benign Het
Mov10 G A 3: 104,708,847 (GRCm39) R389C probably damaging Het
Msh6 A G 17: 88,295,661 (GRCm39) M1071V possibly damaging Het
Myh8 G T 11: 67,177,050 (GRCm39) A401S probably benign Het
Ndufv3 T C 17: 31,746,460 (GRCm39) S117P possibly damaging Het
Obscn A T 11: 58,984,410 (GRCm39) probably null Het
Or1e22 T A 11: 73,377,420 (GRCm39) T77S probably damaging Het
Or2l13 T C 16: 19,305,681 (GRCm39) I31T probably benign Het
Or4c11c T C 2: 88,661,634 (GRCm39) Y58H probably damaging Het
Or8g50 T A 9: 39,648,557 (GRCm39) Y149N probably damaging Het
Pcdhb17 T A 18: 37,619,375 (GRCm39) D388E probably benign Het
Pgm3 T C 9: 86,438,394 (GRCm39) T423A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
S1pr5 T A 9: 21,156,154 (GRCm39) T91S probably benign Het
Sgcz T C 8: 38,007,546 (GRCm39) probably benign Het
Slc33a1 A G 3: 63,871,376 (GRCm39) L79P probably damaging Het
Slco2a1 A G 9: 102,954,167 (GRCm39) T383A probably benign Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Spta1 T A 1: 174,071,764 (GRCm39) M2248K possibly damaging Het
Stub1 A G 17: 26,049,864 (GRCm39) Y304H probably damaging Het
Taar7e T A 10: 23,913,949 (GRCm39) Y146* probably null Het
Tbc1d1 C T 5: 64,473,844 (GRCm39) S660L probably benign Het
Tcea2 C A 2: 181,328,725 (GRCm39) F259L probably damaging Het
Tcp11l1 T A 2: 104,512,185 (GRCm39) K482N probably damaging Het
Trpv6 C T 6: 41,598,690 (GRCm39) R645Q probably damaging Het
Uaca T A 9: 60,748,125 (GRCm39) S30T probably benign Het
Ubap2 C G 4: 41,206,901 (GRCm39) V492L possibly damaging Het
Ube3c T C 5: 29,873,038 (GRCm39) F1026S probably damaging Het
Vmn2r8 T G 5: 108,956,487 (GRCm39) D45A possibly damaging Het
Zfp738 G T 13: 67,819,422 (GRCm39) L180I probably damaging Het
Other mutations in Casq1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGATGATGGAGCTGACCGTG -3'
(R):5'- GCAGAAGATACAGAACATGCGTATC -3'

Sequencing Primer
(F):5'- GCTGACCGTGCAGAAGG -3'
(R):5'- TGCGTATCACACACACTGC -3'
Posted On 2014-09-18