Incidental Mutation 'R9739:Casq1'
| ID |
731747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casq1
|
| Ensembl Gene |
ENSMUSG00000007122 |
| Gene Name |
calsequestrin 1 |
| Synonyms |
CSQ-1, CSQ, sCSQ, CSQ1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
172037461-172047435 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 172043051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 215
(D215G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003554]
[ENSMUST00000170700]
|
| AlphaFold |
O09165 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003554
AA Change: D215G
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003554
Gene: ENSMUSG00000007122
AA Change: D215G
| 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 damaging
Transcript: ENSMUST00000170700
AA Change: D153G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129647
Gene: ENSMUSG00000007122
AA Change: D153G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calsequestrin
|
11 |
94 |
9.7e-38 |
PFAM |
|
Pfam:Calsequestrin
|
89 |
156 |
6.9e-38 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
T |
1: 25,592,849 (GRCm39) |
V313M |
probably damaging |
Het |
| Alg6 |
G |
A |
4: 99,650,195 (GRCm39) |
V472I |
possibly damaging |
Het |
| Atp8b2 |
A |
G |
3: 89,853,403 (GRCm39) |
V728A |
probably benign |
Het |
| Bach2 |
T |
A |
4: 32,563,042 (GRCm39) |
I503N |
probably damaging |
Het |
| Bend3 |
T |
C |
10: 43,385,847 (GRCm39) |
L80P |
possibly damaging |
Het |
| Ccdc175 |
A |
T |
12: 72,186,792 (GRCm39) |
Y351N |
probably benign |
Het |
| Cd200r4 |
A |
T |
16: 44,641,142 (GRCm39) |
|
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,816,200 (GRCm39) |
D621G |
probably damaging |
Het |
| Esco1 |
T |
A |
18: 10,594,218 (GRCm39) |
H356L |
probably benign |
Het |
| Fhod1 |
C |
T |
8: 106,064,378 (GRCm39) |
V191M |
unknown |
Het |
| Fhod3 |
T |
C |
18: 24,903,566 (GRCm39) |
L100P |
probably damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,410,728 (GRCm39) |
R234G |
probably benign |
Het |
| Flnb |
A |
T |
14: 7,935,954 (GRCm38) |
K2265* |
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,823,896 (GRCm39) |
F6543S |
possibly damaging |
Het |
| Fyb1 |
A |
G |
15: 6,670,063 (GRCm39) |
N594S |
probably benign |
Het |
| Gm17019 |
G |
A |
5: 15,082,841 (GRCm39) |
R38* |
probably null |
Het |
| Gm37240 |
A |
G |
3: 84,417,113 (GRCm39) |
|
probably null |
Het |
| Gm9195 |
C |
T |
14: 72,690,264 (GRCm39) |
D1820N |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,520,229 (GRCm39) |
V729A |
probably benign |
Het |
| Or8g21 |
G |
T |
9: 38,906,302 (GRCm39) |
S143* |
probably null |
Het |
| Or9s18 |
T |
C |
13: 65,300,442 (GRCm39) |
S135P |
probably damaging |
Het |
| Pde12 |
T |
C |
14: 26,386,757 (GRCm39) |
T584A |
possibly damaging |
Het |
| Pfkfb2 |
T |
C |
1: 130,624,815 (GRCm39) |
Q515R |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,420,708 (GRCm39) |
N2466S |
probably damaging |
Het |
| Plcd1 |
A |
G |
9: 118,901,195 (GRCm39) |
V720A |
possibly damaging |
Het |
| Pramel24 |
T |
A |
4: 143,454,997 (GRCm39) |
F432I |
possibly damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,513,189 (GRCm39) |
T285A |
probably benign |
Het |
| Scyl3 |
T |
C |
1: 163,771,419 (GRCm39) |
F255S |
probably damaging |
Het |
| Sfrp5 |
T |
A |
19: 42,188,247 (GRCm39) |
M191L |
probably benign |
Het |
| Snrpf |
C |
T |
10: 93,419,390 (GRCm39) |
C66Y |
probably benign |
Het |
| Syngr2 |
T |
A |
11: 117,703,298 (GRCm39) |
I38N |
probably damaging |
Het |
| Thap1 |
C |
T |
8: 26,650,990 (GRCm39) |
H87Y |
probably benign |
Het |
| Tubgcp3 |
A |
G |
8: 12,699,744 (GRCm39) |
Y370H |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,510,736 (GRCm39) |
N447I |
possibly damaging |
Het |
| Zfp532 |
C |
T |
18: 65,757,894 (GRCm39) |
T609M |
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 |
|
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 |
|
Z1176:Casq1
|
UTSW |
1 |
172,043,481 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCGTTTAACACAATAAAGGTGG -3'
(R):5'- CTAAAGGGGATGGGTCTCTTCC -3'
Sequencing Primer
(F):5'- CGTTTAACACAATAAAGGTGGGTTAG -3'
(R):5'- TTCCTGGGACCCACATGTCAAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation