Incidental Mutation 'R1029:Myoz1'
| ID |
95167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myoz1
|
| Ensembl Gene |
ENSMUSG00000068697 |
| Gene Name |
myozenin 1 |
| Synonyms |
2310001N11Rik, FATZ, calsarcin-2 |
| MMRRC Submission |
039131-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20699175-20706608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20700600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 206
(Y206H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090469]
|
| AlphaFold |
Q9JK37 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090469
AA Change: Y206H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087955
Gene: ENSMUSG00000068697
AA Change: Y206H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calsarcin
|
1 |
296 |
1.9e-105 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224436
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225231
|
| Meta Mutation Damage Score |
0.0754 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
92% (36/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body weight and fast-twitch muscle mass, a fiber type shift toward more oxidative fibers, increased exercise capacity and calcineurin activity, and enhanced muscle regeneration after cardiotoxin injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
A |
G |
11: 30,376,177 (GRCm39) |
L230S |
probably damaging |
Het |
| 4930505A04Rik |
A |
G |
11: 30,396,389 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,602,032 (GRCm39) |
I1648T |
probably damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,394,817 (GRCm39) |
F236S |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,230,782 (GRCm39) |
D363G |
possibly damaging |
Het |
| Cntn5 |
T |
A |
9: 9,831,577 (GRCm39) |
D601V |
probably damaging |
Het |
| Cog7 |
C |
T |
7: 121,529,752 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
G |
1: 46,651,881 (GRCm39) |
K1365E |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,837,096 (GRCm39) |
|
probably null |
Het |
| Ehd3 |
T |
A |
17: 74,123,321 (GRCm39) |
I108N |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,348,773 (GRCm39) |
S535P |
probably damaging |
Het |
| Fam170a |
T |
C |
18: 50,414,741 (GRCm39) |
V129A |
probably damaging |
Het |
| Gfra3 |
T |
C |
18: 34,823,892 (GRCm39) |
T361A |
probably benign |
Het |
| Gm10295 |
A |
T |
7: 71,000,448 (GRCm39) |
I44K |
unknown |
Het |
| Gm10553 |
T |
C |
1: 85,078,170 (GRCm39) |
S96P |
probably benign |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Hspa13 |
A |
T |
16: 75,562,125 (GRCm39) |
Y25N |
probably damaging |
Het |
| Lrfn3 |
G |
A |
7: 30,055,347 (GRCm39) |
P533S |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,317,372 (GRCm39) |
|
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,911,639 (GRCm39) |
D1991G |
probably benign |
Het |
| Or2at1 |
A |
T |
7: 99,416,431 (GRCm39) |
I21F |
probably benign |
Het |
| Otog |
A |
G |
7: 45,924,019 (GRCm39) |
E1126G |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,472,613 (GRCm39) |
|
probably benign |
Het |
| Pttg1ip2 |
C |
T |
5: 5,505,919 (GRCm39) |
A121T |
probably benign |
Het |
| Rab7 |
A |
G |
6: 87,990,624 (GRCm39) |
S17P |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,765,514 (GRCm39) |
S203P |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,439 (GRCm39) |
I314T |
possibly damaging |
Het |
| Tgs1 |
T |
C |
4: 3,593,471 (GRCm39) |
I453T |
probably damaging |
Het |
| Tmem117 |
C |
A |
15: 94,909,217 (GRCm39) |
T210N |
probably benign |
Het |
| Trim55 |
A |
G |
3: 19,698,906 (GRCm39) |
N45S |
probably damaging |
Het |
| Ugt2b34 |
G |
C |
5: 87,052,246 (GRCm39) |
S250* |
probably null |
Het |
| Vmn2r67 |
G |
A |
7: 84,785,974 (GRCm39) |
T677I |
probably damaging |
Het |
| Zfp335 |
C |
G |
2: 164,734,598 (GRCm39) |
|
probably benign |
Het |
| Znrf1 |
T |
A |
8: 112,263,986 (GRCm39) |
Y72N |
probably damaging |
Het |
|
| Other mutations in Myoz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01886:Myoz1
|
APN |
14 |
20,705,377 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0081:Myoz1
|
UTSW |
14 |
20,699,622 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0826:Myoz1
|
UTSW |
14 |
20,703,679 (GRCm39) |
splice site |
probably benign |
|
|
R0893:Myoz1
|
UTSW |
14 |
20,701,252 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3078:Myoz1
|
UTSW |
14 |
20,703,685 (GRCm39) |
splice site |
probably benign |
|
|
R4584:Myoz1
|
UTSW |
14 |
20,700,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Myoz1
|
UTSW |
14 |
20,700,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Myoz1
|
UTSW |
14 |
20,700,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Myoz1
|
UTSW |
14 |
20,705,377 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4912:Myoz1
|
UTSW |
14 |
20,699,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Myoz1
|
UTSW |
14 |
20,703,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5015:Myoz1
|
UTSW |
14 |
20,703,787 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5120:Myoz1
|
UTSW |
14 |
20,700,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6682:Myoz1
|
UTSW |
14 |
20,703,687 (GRCm39) |
splice site |
probably null |
|
|
R7097:Myoz1
|
UTSW |
14 |
20,699,477 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9400:Myoz1
|
UTSW |
14 |
20,699,504 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACCACCCTGCTATGAGAGGCAAG -3'
(R):5'- GGATACAGCAATGTTCCACTCCACC -3'
Sequencing Primer
(F):5'- CGGCAGAGCCTCCAAGAG -3'
(R):5'- CTCAGCTACTTCCTTAGTGGTAGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation