Incidental Mutation 'IGL01478:Myzap'
| ID |
88530 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myzap
|
| Ensembl Gene |
ENSMUSG00000041361 |
| Gene Name |
myocardial zonula adherens protein |
| Synonyms |
Gcom1, Myozap, Grinl1a7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
IGL01478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
71411629-71499642 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 71422349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093823]
[ENSMUST00000163998]
[ENSMUST00000164962]
[ENSMUST00000165936]
[ENSMUST00000166843]
[ENSMUST00000169573]
|
| AlphaFold |
Q3UIJ9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093823
|
| SMART Domains |
Protein: ENSMUSP00000091342
Gene: ENSMUSG00000041361
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCOM2
|
96 |
416 |
1.1e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163708
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000163998
|
| SMART Domains |
Protein: ENSMUSP00000131267
Gene: ENSMUSG00000092137
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
105 |
138 |
N/A |
INTRINSIC |
|
coiled coil region
|
187 |
415 |
N/A |
INTRINSIC |
|
coiled coil region
|
483 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164962
|
| SMART Domains |
Protein: ENSMUSP00000131353
Gene: ENSMUSG00000092137
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCOM2
|
96 |
390 |
7.5e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165936
|
| SMART Domains |
Protein: ENSMUSP00000127356
Gene: ENSMUSG00000092137
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCOM2
|
96 |
379 |
4.2e-64 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166843
|
| SMART Domains |
Protein: ENSMUSP00000128698
Gene: ENSMUSG00000092137
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCOM2
|
96 |
416 |
4.6e-67 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169573
|
| SMART Domains |
Protein: ENSMUSP00000127028
Gene: ENSMUSG00000041361
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCOM2
|
96 |
388 |
6.6e-68 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous KO results in a maladaptive response to increased biomechanical stress, resulting in adverse cardiac remodeling, contractile dysfunction, heart failure, and increased mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,911,590 (GRCm39) |
T613A |
probably benign |
Het |
| Cdh16 |
G |
T |
8: 105,341,120 (GRCm39) |
|
probably benign |
Het |
| Epn2 |
A |
G |
11: 61,413,912 (GRCm39) |
S419P |
probably benign |
Het |
| Eral1 |
A |
T |
11: 77,966,558 (GRCm39) |
V234D |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,678,949 (GRCm39) |
K576E |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,305,254 (GRCm39) |
D170V |
probably damaging |
Het |
| Gm4353 |
A |
G |
7: 115,682,975 (GRCm39) |
V202A |
possibly damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,324,531 (GRCm39) |
I245T |
probably benign |
Het |
| Igsf23 |
G |
A |
7: 19,672,161 (GRCm39) |
|
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,754,721 (GRCm39) |
|
probably benign |
Het |
| Mapk8 |
A |
G |
14: 33,105,857 (GRCm39) |
V371A |
probably benign |
Het |
| Mtrf1 |
T |
G |
14: 79,640,360 (GRCm39) |
|
probably benign |
Het |
| Nsrp1 |
C |
T |
11: 76,941,478 (GRCm39) |
V73I |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,555 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8k39 |
A |
T |
2: 86,563,673 (GRCm39) |
Y94* |
probably null |
Het |
| Pex6 |
C |
T |
17: 47,036,230 (GRCm39) |
R976C |
probably benign |
Het |
| Ranbp9 |
G |
A |
13: 43,567,560 (GRCm39) |
T546I |
probably benign |
Het |
| Rfx5 |
T |
C |
3: 94,865,751 (GRCm39) |
V350A |
possibly damaging |
Het |
| Rnf19b |
A |
G |
4: 128,952,623 (GRCm39) |
E187G |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,183,946 (GRCm39) |
V1217A |
probably damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,478 (GRCm39) |
D618E |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,493,672 (GRCm39) |
E1697G |
probably benign |
Het |
| Syk |
A |
G |
13: 52,778,784 (GRCm39) |
Y290C |
probably benign |
Het |
| Trim69 |
T |
C |
2: 122,008,924 (GRCm39) |
L328P |
probably damaging |
Het |
| Unc5c |
T |
A |
3: 141,534,212 (GRCm39) |
I911N |
probably damaging |
Het |
| Wdr5 |
T |
C |
2: 27,423,844 (GRCm39) |
V294A |
probably damaging |
Het |
|
| Other mutations in Myzap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Myzap
|
APN |
9 |
71,462,953 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01077:Myzap
|
APN |
9 |
71,454,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02146:Myzap
|
APN |
9 |
71,471,730 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02715:Myzap
|
APN |
9 |
71,422,397 (GRCm39) |
nonsense |
probably null |
|
|
IGL03218:Myzap
|
APN |
9 |
71,462,871 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0674:Myzap
|
UTSW |
9 |
71,422,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2298:Myzap
|
UTSW |
9 |
71,456,039 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4463:Myzap
|
UTSW |
9 |
71,462,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4470:Myzap
|
UTSW |
9 |
71,499,563 (GRCm39) |
unclassified |
probably benign |
|
|
R4548:Myzap
|
UTSW |
9 |
71,457,528 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4841:Myzap
|
UTSW |
9 |
71,456,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Myzap
|
UTSW |
9 |
71,456,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Myzap
|
UTSW |
9 |
71,466,207 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6307:Myzap
|
UTSW |
9 |
71,466,146 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7427:Myzap
|
UTSW |
9 |
71,412,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7489:Myzap
|
UTSW |
9 |
71,468,320 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8958:Myzap
|
UTSW |
9 |
71,457,485 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9281:Myzap
|
UTSW |
9 |
71,493,482 (GRCm39) |
missense |
unknown |
|
|
R9794:Myzap
|
UTSW |
9 |
71,487,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0018:Myzap
|
UTSW |
9 |
71,457,577 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Posted On |
2013-11-18 |
Incidental Mutation