Incidental Mutation 'IGL02756:Casq1'
ID306443
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 #IGL02756
Quality Score
Status
Chromosome1
Chromosomal Location172209894-172219868 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 172215105 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 230 (D230V)
Ref Sequence ENSEMBL: ENSMUSP00000003554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003554] [ENSMUST00000170700]
Predicted Effect probably damaging
Transcript: ENSMUST00000003554
AA Change: D230V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003554
Gene: ENSMUSG00000007122
AA Change: D230V

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
SMART Domains Protein: ENSMUSP00000129647
Gene: ENSMUSG00000007122

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,165,108 D54V probably damaging Het
Adamts18 C A 8: 113,714,344 probably benign Het
Angptl3 T A 4: 99,031,162 L53Q probably damaging Het
Apc A G 18: 34,314,535 T1461A probably damaging Het
Arl11 T A 14: 61,311,086 V115D probably damaging Het
Cabp4 C A 19: 4,138,561 V173L possibly damaging Het
Cdc42bpa A G 1: 180,109,259 I821V possibly damaging Het
Cfap65 T C 1: 74,905,080 Y1494C probably benign Het
Chd1 T A 17: 15,730,807 S215T probably damaging Het
Csf2rb2 T C 15: 78,284,849 E593G possibly damaging Het
Cstf1 A G 2: 172,375,875 D136G probably damaging Het
Ddx19b T C 8: 111,011,278 probably benign Het
Dido1 A T 2: 180,661,923 L1396Q probably benign Het
Ermn A G 2: 58,047,812 I263T probably damaging Het
F12 T A 13: 55,421,067 Q294L possibly damaging Het
Far2 A T 6: 148,157,391 I192F probably damaging Het
Fshb T A 2: 107,058,873 I29F probably damaging Het
Gcgr T A 11: 120,536,985 Y251N probably benign Het
Gpr158 A G 2: 21,827,079 I997V possibly damaging Het
Gprc5d A G 6: 135,116,615 V98A probably damaging Het
H2-T23 T C 17: 36,031,688 E186G probably damaging Het
Khdrbs3 C T 15: 69,024,836 T115I probably benign Het
Kifap3 C T 1: 163,862,028 T527M probably damaging Het
Mfsd2a C T 4: 122,948,539 A512T probably benign Het
Mmp9 A G 2: 164,949,315 D135G probably benign Het
Mylk T C 16: 34,963,646 V1394A probably benign Het
Nek9 A C 12: 85,311,336 probably null Het
Olfr1008 T C 2: 85,690,058 S210P probably damaging Het
Olfr638 T C 7: 104,003,659 I128T probably damaging Het
P2rx2 T A 5: 110,342,410 probably benign Het
P4htm A G 9: 108,579,778 L410P probably damaging Het
Pik3c2a A T 7: 116,364,513 W921R probably benign Het
Pnisr T C 4: 21,862,175 F288L probably benign Het
Ppp4r3a C T 12: 101,058,323 probably null Het
Prss34 T C 17: 25,299,277 S144P probably damaging Het
Qrsl1 T C 10: 43,882,114 T328A probably benign Het
Rab33b A T 3: 51,484,524 T65S probably damaging Het
Rdh8 A G 9: 20,825,341 S235G possibly damaging Het
Rrp12 T C 19: 41,896,061 K6R probably benign Het
Sec24a T C 11: 51,696,733 D1025G probably benign Het
Sgo2a T G 1: 58,016,350 N564K probably damaging Het
Slc43a3 A T 2: 84,944,268 M130L probably benign Het
Soat1 T C 1: 156,446,575 I89V probably benign Het
St3gal5 A G 6: 72,149,173 D307G probably null Het
Stxbp3-ps C T 19: 9,557,829 noncoding transcript Het
Tacr2 A G 10: 62,261,690 probably benign Het
Tg C T 15: 66,734,586 T193I probably benign Het
Tnik A G 3: 28,542,030 T191A probably damaging Het
Trim27 T C 13: 21,190,086 probably benign Het
Usf2 A T 7: 30,946,992 C134* probably null Het
Usp14 A G 18: 10,001,769 probably null Het
Usp47 T C 7: 112,093,063 S911P possibly damaging Het
Vmn1r73 T A 7: 11,756,647 S131T possibly damaging Het
Vmn2r80 T C 10: 79,194,311 I657T probably damaging Het
Zfp935 A T 13: 62,454,887 C166* probably null Het
Other mutations in Casq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02165:Casq1 APN 1 172213381 missense probably damaging 0.96
IGL02699:Casq1 APN 1 172219696 start gained probably benign
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
Z1176:Casq1 UTSW 1 172215914 nonsense probably null
Posted On2015-04-16