Incidental Mutation 'R3940:Casq1'
| ID |
307397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casq1
|
| Ensembl Gene |
ENSMUSG00000007122 |
| Gene Name |
calsequestrin 1 |
| Synonyms |
CSQ-1, CSQ, sCSQ, CSQ1 |
| MMRRC Submission |
040922-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3940 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172037461-172047435 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 172047103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 52
(V52A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003554]
[ENSMUST00000111243]
[ENSMUST00000170700]
|
| AlphaFold |
O09165 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003554
AA Change: V52A
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003554
Gene: ENSMUSG00000007122
AA Change: V52A
| 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 |
possibly damaging
Transcript: ENSMUST00000170700
AA Change: V52A
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129647
Gene: ENSMUSG00000007122
AA Change: V52A
| 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 |
0.3319 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (35/37) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,373,109 (GRCm39) |
E204G |
probably benign |
Het |
| Acta2 |
A |
T |
19: 34,220,880 (GRCm39) |
I276N |
possibly damaging |
Het |
| Ankrd16 |
T |
C |
2: 11,789,192 (GRCm39) |
C260R |
probably benign |
Het |
| Ankrd42 |
T |
C |
7: 92,240,996 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Calm5 |
A |
T |
13: 3,904,485 (GRCm39) |
I37F |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,853,782 (GRCm39) |
L260* |
probably null |
Het |
| Cttnbp2 |
C |
A |
6: 18,420,974 (GRCm39) |
V846L |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,444,754 (GRCm39) |
T627A |
probably benign |
Het |
| Eogt |
T |
C |
6: 97,090,875 (GRCm39) |
I421M |
probably damaging |
Het |
| Fam135a |
T |
A |
1: 24,096,556 (GRCm39) |
H63L |
probably damaging |
Het |
| Fmo3 |
T |
A |
1: 162,791,555 (GRCm39) |
T241S |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
| Gm14393 |
T |
C |
2: 174,903,420 (GRCm39) |
|
probably null |
Het |
| Kcna5 |
C |
T |
6: 126,510,614 (GRCm39) |
V505I |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
| Or7a41 |
T |
A |
10: 78,871,038 (GRCm39) |
I136N |
probably damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,275 (GRCm39) |
D269V |
possibly damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,477,021 (GRCm39) |
L719P |
probably damaging |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pik3ip1 |
A |
G |
11: 3,281,987 (GRCm39) |
N48S |
probably damaging |
Het |
| Pkn2 |
G |
A |
3: 142,499,672 (GRCm39) |
S951L |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,376,474 (GRCm39) |
H772R |
possibly damaging |
Het |
| Ric1 |
T |
C |
19: 29,548,162 (GRCm39) |
Y277H |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf123 |
A |
T |
9: 107,941,234 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
T |
C |
16: 72,806,631 (GRCm39) |
S1166P |
probably benign |
Het |
| S100a10 |
A |
G |
3: 93,468,383 (GRCm39) |
E38G |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 55,560,983 (GRCm39) |
I483F |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,084,848 (GRCm39) |
N600S |
probably benign |
Het |
| Ube3c |
T |
A |
5: 29,824,358 (GRCm39) |
N517K |
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 |
|
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'- TACTTGGTGGAGACAGAGGC -3'
(R):5'- GATTGTACTACCTCCATGAGAGC -3'
Sequencing Primer
(F):5'- TCAGACTCAGGGCTCACC -3'
(R):5'- TGTACTACCTCCATGAGAGCTACCG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation