Incidental Mutation 'IGL02699:Casq1'
ID304083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casq1
Ensembl Gene ENSMUSG00000007122
Gene Namecalsequestrin 1
SynonymsCSQ-1, CSQ1, CSQ, sCSQ
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02699
Quality Score
Status
Chromosome1
Chromosomal Location172209894-172219868 bp(-) (GRCm38)
Type of Mutationstart gained
DNA Base Change (assembly) T to C at 172219696 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003554] [ENSMUST00000111243] [ENSMUST00000170700]
AlphaFold O09165
Predicted Effect probably benign
Transcript: ENSMUST00000003554
SMART Domains Protein: ENSMUSP00000003554
Gene: ENSMUSG00000007122

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000129647
Gene: ENSMUSG00000007122

DomainStartEndE-ValueType
Pfam:Calsequestrin 11 94 9.7e-38 PFAM
Pfam:Calsequestrin 89 156 6.9e-38 PFAM
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,322,019 D198G probably benign Het
Cd109 T A 9: 78,671,989 probably benign Het
Col15a1 T G 4: 47,284,471 probably benign Het
Ctdp1 T C 18: 80,450,185 D365G probably benign Het
Daam1 T C 12: 71,988,943 F971L probably damaging Het
Dalrd3 T A 9: 108,570,889 probably benign Het
Dnaaf5 T C 5: 139,153,350 probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fbxo8 A G 8: 56,590,188 T236A possibly damaging Het
Ighv1-12 C A 12: 114,616,116 E29* probably null Het
Il17re A G 6: 113,468,919 D397G probably damaging Het
Ing5 A G 1: 93,816,442 N157D possibly damaging Het
Ipo11 T C 13: 106,889,397 E395G possibly damaging Het
Letm1 T C 5: 33,745,148 E599G possibly damaging Het
Mansc1 T C 6: 134,610,354 T287A probably benign Het
Med1 T C 11: 98,180,025 N131D possibly damaging Het
Olfr1085 A T 2: 86,658,347 I37N probably benign Het
Olfr1337 G T 4: 118,782,152 C144* probably null Het
Olfr1341 T C 4: 118,710,198 S264P probably benign Het
Olfr769 T G 10: 129,111,771 Y218S probably benign Het
Osm T C 11: 4,239,723 V169A possibly damaging Het
Phkg2 C T 7: 127,582,550 A278V probably benign Het
Plod2 T A 9: 92,607,142 M709K probably damaging Het
Pzp A T 6: 128,487,401 probably null Het
Ric1 T C 19: 29,522,557 L12P possibly damaging Het
Skor1 C A 9: 63,140,046 probably benign Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Syncrip A G 9: 88,456,554 probably benign Het
Tex2 T C 11: 106,568,433 E57G possibly damaging Het
Tmc1 C T 19: 20,832,350 probably null Het
Tmem59 T C 4: 107,192,538 M140T probably benign Het
Ttn T C 2: 76,944,089 T2158A probably damaging Het
Other mutations in Casq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02165:Casq1 APN 1 172213381 missense probably damaging 0.96
IGL02756:Casq1 APN 1 172215105 missense probably damaging 1.00
PIT4377001:Casq1 UTSW 1 172212001 missense probably benign 0.15
R0026:Casq1 UTSW 1 172219400 splice site probably benign
R0026:Casq1 UTSW 1 172219400 splice site probably benign
R0124:Casq1 UTSW 1 172210425 missense probably damaging 1.00
R0485:Casq1 UTSW 1 172210390 unclassified probably benign
R1982:Casq1 UTSW 1 172215530 missense probably damaging 1.00
R2095:Casq1 UTSW 1 172215962 missense probably benign 0.26
R2097:Casq1 UTSW 1 172210421 missense probably damaging 1.00
R3940:Casq1 UTSW 1 172219536 missense possibly damaging 0.91
R4654:Casq1 UTSW 1 172210398 unclassified probably benign
R4790:Casq1 UTSW 1 172216837 missense probably damaging 1.00
R5002:Casq1 UTSW 1 172213378 missense possibly damaging 0.50
R5187:Casq1 UTSW 1 172213074 missense possibly damaging 0.54
R5307:Casq1 UTSW 1 172219416 missense probably damaging 1.00
R5973:Casq1 UTSW 1 172219501 missense probably damaging 1.00
R6251:Casq1 UTSW 1 172216840 missense probably benign 0.17
R6768:Casq1 UTSW 1 172219678 missense probably benign 0.04
R7380:Casq1 UTSW 1 172216849 missense probably benign 0.07
R9014:Casq1 UTSW 1 172210497 missense probably damaging 1.00
Z1176:Casq1 UTSW 1 172215914 nonsense probably null
Posted On2015-04-16