Incidental Mutation 'IGL01417:Myoz2'
| ID |
80432 |
| 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: 0.096)
|
| Stock # |
IGL01417
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
122799855-122828649 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 122800081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 249
(T249I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029761]
[ENSMUST00000141588]
|
| AlphaFold |
Q9JJW5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029761
AA Change: T249I
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029761
Gene: ENSMUSG00000028116
AA Change: T249I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calsarcin
|
1 |
264 |
1.3e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141588
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143464
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa13 |
T |
A |
15: 58,228,043 (GRCm39) |
|
noncoding transcript |
Het |
| Ctdsp2 |
T |
C |
10: 126,829,743 (GRCm39) |
I125T |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,623,759 (GRCm39) |
K1044E |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,570,898 (GRCm39) |
Y44C |
probably damaging |
Het |
| Elmo1 |
T |
C |
13: 20,435,345 (GRCm39) |
|
probably null |
Het |
| Flnb |
T |
C |
14: 7,905,513 (GRCm38) |
S1088P |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,087,520 (GRCm39) |
|
probably benign |
Het |
| Fv1 |
T |
A |
4: 147,953,786 (GRCm39) |
C117* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,734,990 (GRCm39) |
D174G |
probably damaging |
Het |
| Htatip2 |
G |
A |
7: 49,420,573 (GRCm39) |
V140I |
possibly damaging |
Het |
| Mill1 |
G |
T |
7: 17,998,708 (GRCm39) |
R306L |
probably benign |
Het |
| Nrdc |
T |
C |
4: 108,858,027 (GRCm39) |
|
probably benign |
Het |
| Or2r3 |
T |
A |
6: 42,449,046 (GRCm39) |
H22L |
probably benign |
Het |
| Pcbp1 |
T |
C |
6: 86,502,836 (GRCm39) |
H21R |
probably damaging |
Het |
| Pdcd2l |
A |
C |
7: 33,892,170 (GRCm39) |
L221R |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,566 (GRCm39) |
E135G |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,184,100 (GRCm39) |
E71G |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,585,200 (GRCm39) |
R472G |
probably benign |
Het |
| Sox8 |
A |
C |
17: 25,786,502 (GRCm39) |
|
probably null |
Het |
| Tacr3 |
G |
T |
3: 134,535,242 (GRCm39) |
W70L |
possibly damaging |
Het |
| Tacr3 |
A |
T |
3: 134,535,307 (GRCm39) |
I92F |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,138,111 (GRCm39) |
N1156S |
probably damaging |
Het |
| Upk3b |
T |
C |
5: 136,067,920 (GRCm39) |
I37T |
possibly damaging |
Het |
| Vmn1r35 |
T |
A |
6: 66,656,191 (GRCm39) |
I160F |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,522,377 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Myoz2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Myoz2
|
APN |
3 |
122,810,193 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-11-05 |
Incidental Mutation