Incidental Mutation 'R4463:Myzap'
| ID |
330233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myzap
|
| Ensembl Gene |
ENSMUSG00000041361 |
| Gene Name |
myocardial zonula adherens protein |
| Synonyms |
Gcom1, Myozap, Grinl1a7 |
| MMRRC Submission |
041721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R4463 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
71411629-71499642 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 71462933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 204
(D204E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093823]
[ENSMUST00000163998]
[ENSMUST00000164962]
[ENSMUST00000165936]
[ENSMUST00000166843]
[ENSMUST00000169573]
|
| AlphaFold |
Q3UIJ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093823
AA Change: D204E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091342
Gene: ENSMUSG00000041361
AA Change: D204E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCOM2
|
96 |
416 |
1.1e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163998
AA Change: D204E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131267
Gene: ENSMUSG00000092137
AA Change: D204E
| 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
AA Change: D204E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131353
Gene: ENSMUSG00000092137
AA Change: D204E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCOM2
|
96 |
390 |
7.5e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165936
AA Change: D204E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127356
Gene: ENSMUSG00000092137
AA Change: D204E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCOM2
|
96 |
379 |
4.2e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166843
AA Change: D204E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128698
Gene: ENSMUSG00000092137
AA Change: D204E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCOM2
|
96 |
416 |
4.6e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169573
AA Change: D204E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127028
Gene: ENSMUSG00000041361
AA Change: D204E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCOM2
|
96 |
388 |
6.6e-68 |
PFAM |
|
| Meta Mutation Damage Score |
0.0598 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (57/57) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,769,981 (GRCm39) |
|
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,756,005 (GRCm39) |
|
probably null |
Het |
| Alox12e |
A |
G |
11: 70,209,082 (GRCm39) |
L388P |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,382,748 (GRCm39) |
S27T |
possibly damaging |
Het |
| Capn2 |
G |
A |
1: 182,307,329 (GRCm39) |
|
probably benign |
Het |
| Catspere1 |
G |
A |
1: 177,765,279 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc158 |
T |
C |
5: 92,782,159 (GRCm39) |
D820G |
probably null |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,705,627 (GRCm39) |
D761E |
probably benign |
Het |
| Chst8 |
T |
C |
7: 34,374,645 (GRCm39) |
D398G |
probably damaging |
Het |
| Clns1a |
T |
C |
7: 97,370,156 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,318,084 (GRCm39) |
Y355F |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,846,710 (GRCm39) |
|
probably null |
Het |
| Eif1ad11 |
A |
G |
12: 87,994,129 (GRCm39) |
D119G |
probably benign |
Het |
| Eipr1 |
G |
A |
12: 28,909,338 (GRCm39) |
A202T |
probably damaging |
Het |
| Fam83a |
T |
C |
15: 57,858,655 (GRCm39) |
S232P |
probably damaging |
Het |
| Fastkd2 |
C |
T |
1: 63,774,968 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,850,144 (GRCm39) |
M1197V |
probably benign |
Het |
| Fgfr4 |
G |
A |
13: 55,304,280 (GRCm39) |
V107I |
probably benign |
Het |
| Gatad1 |
G |
T |
5: 3,697,404 (GRCm39) |
S72R |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,763,738 (GRCm39) |
D1471G |
probably damaging |
Het |
| Gm1330 |
A |
T |
2: 148,845,064 (GRCm39) |
Y36* |
probably null |
Het |
| Gm29125 |
T |
C |
1: 80,360,903 (GRCm39) |
|
noncoding transcript |
Het |
| Idi1 |
G |
A |
13: 8,937,508 (GRCm39) |
|
probably benign |
Het |
| Itgbl1 |
C |
T |
14: 124,078,080 (GRCm39) |
T190I |
probably damaging |
Het |
| Kbtbd3 |
G |
A |
9: 4,331,257 (GRCm39) |
G544R |
probably damaging |
Het |
| Kifc3 |
T |
C |
8: 95,828,744 (GRCm39) |
T638A |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,068,695 (GRCm39) |
C798Y |
probably damaging |
Het |
| Larp6 |
C |
A |
9: 60,644,279 (GRCm39) |
H140N |
probably damaging |
Het |
| Mctp1 |
A |
T |
13: 76,860,206 (GRCm39) |
D108V |
probably damaging |
Het |
| Neb |
GCC |
GC |
2: 52,169,734 (GRCm39) |
|
probably null |
Het |
| Or13p8 |
T |
C |
4: 118,583,855 (GRCm39) |
V137A |
probably benign |
Het |
| Or1j20 |
T |
C |
2: 36,760,205 (GRCm39) |
I209T |
probably benign |
Het |
| Or4c102 |
T |
C |
2: 88,422,976 (GRCm39) |
V276A |
possibly damaging |
Het |
| Phka1 |
A |
G |
X: 101,588,990 (GRCm39) |
V818A |
probably benign |
Het |
| Plek |
T |
C |
11: 16,931,873 (GRCm39) |
Y326C |
possibly damaging |
Het |
| Pp2d1 |
A |
G |
17: 53,822,886 (GRCm39) |
I60T |
probably benign |
Het |
| Prmt3 |
T |
C |
7: 49,467,837 (GRCm39) |
Y348H |
probably damaging |
Het |
| Psg27 |
G |
T |
7: 18,291,010 (GRCm39) |
Q398K |
possibly damaging |
Het |
| Raver1 |
T |
C |
9: 21,003,123 (GRCm39) |
T51A |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,151,968 (GRCm39) |
N197S |
possibly damaging |
Het |
| Sectm1a |
T |
A |
11: 120,960,477 (GRCm39) |
I113L |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Snph |
A |
T |
2: 151,436,035 (GRCm39) |
S229T |
probably damaging |
Het |
| Stpg4 |
A |
G |
17: 87,697,101 (GRCm39) |
F183L |
probably benign |
Het |
| Tango6 |
A |
T |
8: 107,415,706 (GRCm39) |
T176S |
probably benign |
Het |
| Vmn1r196 |
A |
G |
13: 22,477,853 (GRCm39) |
Q164R |
probably benign |
Het |
| Vstm4 |
T |
A |
14: 32,639,833 (GRCm39) |
L236Q |
probably damaging |
Het |
| Xylb |
A |
G |
9: 119,215,433 (GRCm39) |
D462G |
probably benign |
Het |
| Zc2hc1c |
A |
G |
12: 85,337,071 (GRCm39) |
R243G |
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 |
|
IGL01478:Myzap
|
APN |
9 |
71,422,349 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTAGAAAGGCACGCCCAAC -3'
(R):5'- CTACAGCGTCAGACAAATGGAC -3'
Sequencing Primer
(F):5'- TATGAACAGACAGCTCCTTGG -3'
(R):5'- TCAGACAAATGGACTGCTGCTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation