Incidental Mutation 'R0026:Casq1'
| ID |
18679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casq1
|
| Ensembl Gene |
ENSMUSG00000007122 |
| Gene Name |
calsequestrin 1 |
| Synonyms |
CSQ-1, CSQ, sCSQ, CSQ1 |
| MMRRC Submission |
038321-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0026 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
172037461-172047435 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 172046967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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
| 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 |
probably benign
Transcript: ENSMUST00000170700
|
| SMART Domains |
Protein: ENSMUSP00000129647
Gene: ENSMUSG00000007122
| 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: 78.7%
- 3x: 68.7%
- 10x: 42.4%
- 20x: 22.6%
|
| Validation Efficiency |
96% (75/78) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
T |
7: 120,077,146 (GRCm39) |
|
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,666,322 (GRCm39) |
L140F |
probably benign |
Het |
| Asph |
A |
C |
4: 9,601,361 (GRCm39) |
S129A |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,799,840 (GRCm39) |
Y406H |
probably damaging |
Het |
| B4galt3 |
C |
T |
1: 171,101,831 (GRCm39) |
|
probably benign |
Het |
| BC016579 |
T |
C |
16: 45,460,730 (GRCm39) |
T113A |
probably benign |
Het |
| Bmpr1b |
A |
G |
3: 141,576,494 (GRCm39) |
L113P |
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,171,365 (GRCm39) |
D371G |
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Cyp4b1 |
C |
T |
4: 115,504,718 (GRCm39) |
G56D |
possibly damaging |
Het |
| Dock5 |
C |
A |
14: 68,083,530 (GRCm39) |
E126D |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,287,779 (GRCm39) |
D1620V |
probably benign |
Het |
| Fancd2os |
G |
T |
6: 113,574,652 (GRCm39) |
T118N |
probably damaging |
Het |
| Fli1 |
A |
G |
9: 32,387,880 (GRCm39) |
Y37H |
probably damaging |
Het |
| Gm17521 |
G |
A |
X: 121,939,239 (GRCm39) |
S43L |
probably benign |
Het |
| Gnb3 |
A |
G |
6: 124,814,380 (GRCm39) |
V135A |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,572,356 (GRCm39) |
V1278A |
probably benign |
Het |
| Ighv1-58 |
G |
A |
12: 115,275,907 (GRCm39) |
T77I |
probably benign |
Het |
| Lgsn |
T |
A |
1: 31,242,524 (GRCm39) |
V202D |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,053 (GRCm39) |
F381L |
possibly damaging |
Het |
| Ntf3 |
T |
A |
6: 126,078,768 (GRCm39) |
N246I |
probably damaging |
Het |
| Pds5b |
G |
A |
5: 150,673,295 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
C |
T |
14: 20,581,836 (GRCm39) |
V60I |
probably benign |
Het |
| Prc1 |
T |
C |
7: 79,960,809 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,642,667 (GRCm39) |
N413K |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,896 (GRCm39) |
S307P |
probably benign |
Het |
| Rbfox2 |
T |
C |
15: 76,968,357 (GRCm39) |
T435A |
possibly damaging |
Het |
| Senp1 |
T |
C |
15: 97,974,549 (GRCm39) |
R88G |
probably damaging |
Het |
| Slc35b1 |
T |
C |
11: 95,281,468 (GRCm39) |
S294P |
probably benign |
Het |
| Slc44a5 |
G |
A |
3: 153,945,907 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,450 (GRCm39) |
D910V |
probably benign |
Het |
| Taf1d |
T |
A |
9: 15,219,944 (GRCm39) |
S64R |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,875,016 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,599,534 (GRCm39) |
T19186A |
probably damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,653 (GRCm39) |
|
probably null |
Het |
| Usp32 |
T |
C |
11: 84,922,900 (GRCm39) |
S673G |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,601,940 (GRCm39) |
|
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,923,447 (GRCm39) |
I3774T |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,379,434 (GRCm39) |
Q513R |
probably damaging |
Het |
| Yipf1 |
T |
A |
4: 107,202,357 (GRCm39) |
L240* |
probably null |
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 |
|
|
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 |
|
R9739:Casq1
|
UTSW |
1 |
172,043,051 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Casq1
|
UTSW |
1 |
172,043,481 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation