Incidental Mutation 'R5002:Casq1'
ID |
389980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casq1
|
Ensembl Gene |
ENSMUSG00000007122 |
Gene Name |
calsequestrin 1 |
Synonyms |
CSQ-1, CSQ, sCSQ, CSQ1 |
MMRRC Submission |
042596-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5002 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
172037461-172047435 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 172040945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 281
(D281V)
|
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: D281V
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000003554 Gene: ENSMUSG00000007122 AA Change: D281V
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
Pfam:Calsequestrin
|
11 |
94 |
9.7e-38 |
PFAM |
Pfam:Calsequestrin
|
89 |
156 |
6.9e-38 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171429
|
Meta Mutation Damage Score |
0.4825 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
94% (44/47) |
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 |
Abca8b |
G |
A |
11: 109,852,623 (GRCm39) |
P736S |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,470,668 (GRCm39) |
I523T |
possibly damaging |
Het |
Catsperb |
T |
C |
12: 101,486,813 (GRCm39) |
F447L |
probably benign |
Het |
Cenpe |
A |
T |
3: 134,952,842 (GRCm39) |
M1511L |
probably benign |
Het |
Cep128 |
T |
C |
12: 91,222,497 (GRCm39) |
|
probably null |
Het |
Col6a6 |
T |
C |
9: 105,663,292 (GRCm39) |
T82A |
probably benign |
Het |
Dna2 |
A |
G |
10: 62,786,621 (GRCm39) |
D123G |
probably damaging |
Het |
Ergic2 |
A |
G |
6: 148,085,656 (GRCm39) |
I281T |
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,785,528 (GRCm39) |
|
probably null |
Het |
Filip1l |
T |
C |
16: 57,391,466 (GRCm39) |
Y447H |
probably benign |
Het |
Flnb |
T |
A |
14: 7,945,882 (GRCm38) |
M2429K |
probably damaging |
Het |
Fn1 |
T |
A |
1: 71,668,887 (GRCm39) |
Q686L |
possibly damaging |
Het |
Gm10644 |
T |
C |
8: 84,660,216 (GRCm39) |
D43G |
possibly damaging |
Het |
Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
Gpx6 |
A |
G |
13: 21,497,858 (GRCm39) |
Y43C |
probably damaging |
Het |
Hhat |
A |
T |
1: 192,225,498 (GRCm39) |
F494I |
probably benign |
Het |
Itga9 |
C |
A |
9: 118,492,966 (GRCm39) |
S287* |
probably null |
Het |
Lrrk1 |
C |
A |
7: 65,982,111 (GRCm39) |
G177W |
probably damaging |
Het |
Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
Ms4a14 |
T |
C |
19: 11,281,653 (GRCm39) |
I302V |
probably benign |
Het |
Nepn |
A |
C |
10: 52,267,850 (GRCm39) |
M39L |
probably benign |
Het |
Nfil3 |
C |
A |
13: 53,122,712 (GRCm39) |
R64L |
probably damaging |
Het |
Ociad1 |
T |
C |
5: 73,467,659 (GRCm39) |
V199A |
possibly damaging |
Het |
Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
Or8k3b |
C |
A |
2: 86,520,429 (GRCm39) |
V297L |
possibly damaging |
Het |
Polk |
A |
G |
13: 96,625,752 (GRCm39) |
Y431H |
probably damaging |
Het |
Prss33 |
C |
T |
17: 24,054,332 (GRCm39) |
|
probably benign |
Het |
Semp2l2b |
G |
C |
10: 21,943,716 (GRCm39) |
P88R |
probably damaging |
Het |
Slc12a7 |
A |
G |
13: 73,911,896 (GRCm39) |
N4S |
possibly damaging |
Het |
Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
Smarce1 |
T |
C |
11: 99,115,889 (GRCm39) |
N44S |
probably damaging |
Het |
Spast |
C |
T |
17: 74,676,221 (GRCm39) |
Q344* |
probably null |
Het |
Stk11ip |
C |
A |
1: 75,509,187 (GRCm39) |
|
probably benign |
Het |
Tas2r131 |
T |
C |
6: 132,934,114 (GRCm39) |
I232V |
probably benign |
Het |
Tesk1 |
T |
C |
4: 43,444,573 (GRCm39) |
Y126H |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,999,976 (GRCm39) |
V164A |
possibly damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vwc2l |
T |
G |
1: 70,768,205 (GRCm39) |
C43G |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,914,924 (GRCm39) |
T1626I |
probably benign |
Het |
Zpld2 |
T |
A |
4: 133,924,231 (GRCm39) |
N438I |
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 |
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'- ATAGCCATCTTGGAGGGAGC -3'
(R):5'- CCTAGAGCAGAAAGGATGCC -3'
Sequencing Primer
(F):5'- GGAAATGAGTCCAGACCTATTTCC -3'
(R):5'- GGATGCCATTAGAAAAGTCACC -3'
|
Posted On |
2016-06-06 |