Incidental Mutation 'IGL00766:Myoz2'
| ID |
12747 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myoz2
|
| Ensembl Gene |
ENSMUSG00000028116 |
| Gene Name |
myozenin 2 |
| Synonyms |
calsarcin-1, 1110012I24Rik, Fatz-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
IGL00766
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
122799855-122828649 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 122810193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029761]
[ENSMUST00000141588]
|
| AlphaFold |
Q9JJW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029761
|
| SMART Domains |
Protein: ENSMUSP00000029761
Gene: ENSMUSG00000028116
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calsarcin
|
1 |
264 |
1.3e-89 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000103761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141588
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200514
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mutants show an excess of skeletal muscle fibers and chronically activated hypertrophic gene program despite the absence of hypertrophy. However, stressed null mutants do form cardiac hypertrophy. [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 |
|---|
| Adgrl3 |
T |
A |
5: 81,942,415 (GRCm39) |
D1379E |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,354,260 (GRCm39) |
T1794A |
probably damaging |
Het |
| Ano2 |
A |
T |
6: 125,990,216 (GRCm39) |
D779V |
probably damaging |
Het |
| Ap3b1 |
G |
T |
13: 94,679,392 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,270,012 (GRCm39) |
V379A |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 15,025,006 (GRCm39) |
Y398C |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,268,286 (GRCm39) |
R800C |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,451,046 (GRCm39) |
H306Q |
probably damaging |
Het |
| Cckar |
C |
A |
5: 53,857,378 (GRCm39) |
R344L |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,281,648 (GRCm39) |
Q2829L |
unknown |
Het |
| Egfem1 |
A |
G |
3: 29,711,302 (GRCm39) |
I237V |
possibly damaging |
Het |
| Erlec1 |
T |
A |
11: 30,900,623 (GRCm39) |
K143* |
probably null |
Het |
| Glyat |
T |
G |
19: 12,628,626 (GRCm39) |
D140E |
probably benign |
Het |
| Grhl2 |
T |
C |
15: 37,336,545 (GRCm39) |
F50L |
probably damaging |
Het |
| Havcr2 |
T |
C |
11: 46,360,373 (GRCm39) |
V151A |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,023 (GRCm39) |
Y2368C |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,821,986 (GRCm39) |
Y686* |
probably null |
Het |
| Itga7 |
G |
T |
10: 128,777,723 (GRCm39) |
D235Y |
possibly damaging |
Het |
| Kctd3 |
C |
T |
1: 188,727,973 (GRCm39) |
V199I |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,615,443 (GRCm39) |
|
probably benign |
Het |
| Nepro |
C |
T |
16: 44,549,668 (GRCm39) |
Q43* |
probably null |
Het |
| Ophn1 |
T |
C |
X: 97,846,720 (GRCm39) |
D74G |
probably damaging |
Het |
| Plau |
A |
G |
14: 20,888,635 (GRCm39) |
N84S |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,672,691 (GRCm39) |
V904A |
possibly damaging |
Het |
| Satl1 |
T |
C |
X: 111,315,466 (GRCm39) |
K330E |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,814,570 (GRCm39) |
|
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,341,181 (GRCm39) |
I386S |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,493,609 (GRCm39) |
Y264H |
probably damaging |
Het |
| Sulf1 |
A |
C |
1: 12,890,687 (GRCm39) |
D375A |
probably damaging |
Het |
| Tesl1 |
C |
A |
X: 23,772,838 (GRCm39) |
A113E |
probably benign |
Het |
| Tgfbi |
A |
G |
13: 56,778,408 (GRCm39) |
D393G |
probably benign |
Het |
| Trim59 |
A |
C |
3: 68,944,712 (GRCm39) |
D209E |
probably benign |
Het |
| Ubqln3 |
G |
T |
7: 103,792,031 (GRCm39) |
Q20K |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,168,077 (GRCm39) |
D2808G |
probably damaging |
Het |
|
| Other mutations in Myoz2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01417:Myoz2
|
APN |
3 |
122,800,081 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01645:Myoz2
|
APN |
3 |
122,827,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01759:Myoz2
|
APN |
3 |
122,807,430 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03167:Myoz2
|
APN |
3 |
122,800,139 (GRCm39) |
nonsense |
probably null |
|
|
R1384:Myoz2
|
UTSW |
3 |
122,819,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Myoz2
|
UTSW |
3 |
122,819,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Myoz2
|
UTSW |
3 |
122,819,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Myoz2
|
UTSW |
3 |
122,819,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2137:Myoz2
|
UTSW |
3 |
122,827,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3881:Myoz2
|
UTSW |
3 |
122,807,369 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6730:Myoz2
|
UTSW |
3 |
122,810,276 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8265:Myoz2
|
UTSW |
3 |
122,800,172 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8548:Myoz2
|
UTSW |
3 |
122,827,916 (GRCm39) |
start codon destroyed |
possibly damaging |
0.51 |
|
R8778:Myoz2
|
UTSW |
3 |
122,800,156 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9021:Myoz2
|
UTSW |
3 |
122,807,284 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9775:Myoz2
|
UTSW |
3 |
122,807,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation