Incidental Mutation 'R0584:Mef2a'
| ID |
56554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mef2a
|
| Ensembl Gene |
ENSMUSG00000030557 |
| Gene Name |
myocyte enhancer factor 2A |
| Synonyms |
A430079H05Rik |
| MMRRC Submission |
038774-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0584 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
66880911-67022606 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 66884896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 406
(S406*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032776]
[ENSMUST00000072460]
[ENSMUST00000076325]
[ENSMUST00000107476]
[ENSMUST00000135493]
[ENSMUST00000156690]
[ENSMUST00000207715]
[ENSMUST00000208512]
|
| AlphaFold |
Q60929 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032776
AA Change: S400*
|
| SMART Domains |
Protein: ENSMUSP00000032776
Gene: ENSMUSG00000030557
AA Change: S400*
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
155 |
5.2e-30 |
PFAM |
|
low complexity region
|
161 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
457 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072460
|
| SMART Domains |
Protein: ENSMUSP00000138645
Gene: ENSMUSG00000030557
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000076325
AA Change: S400*
|
| SMART Domains |
Protein: ENSMUSP00000075664
Gene: ENSMUSG00000030557
AA Change: S400*
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
155 |
5.2e-30 |
PFAM |
|
low complexity region
|
161 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
457 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107476
AA Change: S398*
|
| SMART Domains |
Protein: ENSMUSP00000103100
Gene: ENSMUSG00000030557
AA Change: S398*
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
153 |
3.7e-8 |
PFAM |
|
low complexity region
|
159 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
429 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
455 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135493
AA Change: S406*
|
| SMART Domains |
Protein: ENSMUSP00000138566
Gene: ENSMUSG00000030557
AA Change: S406*
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
153 |
3.7e-8 |
PFAM |
|
low complexity region
|
159 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000156690
AA Change: S406*
|
| SMART Domains |
Protein: ENSMUSP00000117496
Gene: ENSMUSG00000030557
AA Change: S406*
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
6.15e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
152 |
1.3e-8 |
PFAM |
|
low complexity region
|
159 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207715
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208569
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207794
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208512
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 93.7%
|
| Validation Efficiency |
98% (47/48) |
| 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 a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Inactivation of this gene results in cardiac sudden death. Mice dying in the early postnatal period exhibit ventricular dilation, while mice dying in adulthood show a reduced number of mitochondria in the heart. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,847,564 (GRCm39) |
S1745P |
probably damaging |
Het |
| Agfg2 |
G |
A |
5: 137,665,992 (GRCm39) |
T89I |
probably damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,017 (GRCm39) |
I27M |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,087,047 (GRCm39) |
L206Q |
probably damaging |
Het |
| Asxl2 |
A |
T |
12: 3,546,632 (GRCm39) |
E472V |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,465,157 (GRCm39) |
V313E |
probably benign |
Het |
| Casp12 |
A |
G |
9: 5,352,268 (GRCm39) |
I87V |
probably null |
Het |
| Ccl25 |
C |
T |
8: 4,404,085 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
T |
C |
1: 24,263,571 (GRCm39) |
|
probably benign |
Het |
| Cyth4 |
A |
G |
15: 78,494,078 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,881,315 (GRCm39) |
Y2587H |
probably damaging |
Het |
| Dppa3 |
T |
C |
6: 122,606,951 (GRCm39) |
I147T |
probably benign |
Het |
| Fam120b |
T |
C |
17: 15,622,384 (GRCm39) |
S121P |
probably damaging |
Het |
| Fam209 |
C |
T |
2: 172,316,081 (GRCm39) |
T152M |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,851,772 (GRCm39) |
L103P |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
| Fitm1 |
T |
C |
14: 55,814,113 (GRCm39) |
V203A |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,733,074 (GRCm39) |
R1037Q |
probably damaging |
Het |
| Gm11563 |
A |
G |
11: 99,549,451 (GRCm39) |
I101T |
unknown |
Het |
| Gpd1l |
A |
G |
9: 114,743,412 (GRCm39) |
F163L |
probably damaging |
Het |
| Grp |
C |
A |
18: 66,006,766 (GRCm39) |
A30E |
possibly damaging |
Het |
| H1f7 |
C |
A |
15: 98,154,958 (GRCm39) |
E64* |
probably null |
Het |
| Icosl |
T |
C |
10: 77,907,709 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,747,180 (GRCm39) |
T1194A |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,433,039 (GRCm39) |
S1431P |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,670,467 (GRCm39) |
S1503P |
probably damaging |
Het |
| Myh13 |
G |
T |
11: 67,251,200 (GRCm39) |
E1360* |
probably null |
Het |
| Nop58 |
A |
G |
1: 59,745,919 (GRCm39) |
D400G |
probably benign |
Het |
| Or5p79 |
T |
C |
7: 108,221,622 (GRCm39) |
L201P |
probably benign |
Het |
| Or6c205 |
T |
C |
10: 129,086,817 (GRCm39) |
V138A |
probably benign |
Het |
| Oscp1 |
A |
G |
4: 125,977,387 (GRCm39) |
|
probably null |
Het |
| Pde9a |
A |
T |
17: 31,678,951 (GRCm39) |
Y264F |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,309,660 (GRCm39) |
K2763* |
probably null |
Het |
| Prkci |
T |
A |
3: 31,079,289 (GRCm39) |
C42* |
probably null |
Het |
| Ptprr |
T |
C |
10: 116,087,063 (GRCm39) |
V270A |
probably damaging |
Het |
| Rsf1 |
T |
A |
7: 97,311,335 (GRCm39) |
N688K |
possibly damaging |
Het |
| S1pr3 |
A |
T |
13: 51,573,697 (GRCm39) |
M293L |
probably benign |
Het |
| Scn10a |
A |
C |
9: 119,499,597 (GRCm39) |
L232R |
probably damaging |
Het |
| Sirt5 |
T |
A |
13: 43,548,204 (GRCm39) |
|
probably null |
Het |
| Sp6 |
C |
T |
11: 96,913,091 (GRCm39) |
T268M |
probably damaging |
Het |
| Spag5 |
A |
G |
11: 78,194,921 (GRCm39) |
N76S |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,259,204 (GRCm39) |
N1560D |
possibly damaging |
Het |
| Togaram1 |
T |
C |
12: 65,014,279 (GRCm39) |
L510P |
probably damaging |
Het |
| Umps |
A |
G |
16: 33,779,494 (GRCm39) |
I401T |
probably damaging |
Het |
| Vars2 |
A |
G |
17: 35,977,578 (GRCm39) |
V118A |
possibly damaging |
Het |
|
| Other mutations in Mef2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01923:Mef2a
|
APN |
7 |
66,914,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02112:Mef2a
|
APN |
7 |
66,914,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0597_Mef2a_122
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R4635_Mef2a_439
|
UTSW |
7 |
66,890,175 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
P0024:Mef2a
|
UTSW |
7 |
66,945,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Mef2a
|
UTSW |
7 |
66,901,472 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0583:Mef2a
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R0589:Mef2a
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R0597:Mef2a
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R0608:Mef2a
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R0704:Mef2a
|
UTSW |
7 |
66,884,896 (GRCm39) |
nonsense |
probably null |
|
|
R1859:Mef2a
|
UTSW |
7 |
66,915,766 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2166:Mef2a
|
UTSW |
7 |
66,915,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2427:Mef2a
|
UTSW |
7 |
66,915,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3618:Mef2a
|
UTSW |
7 |
66,918,075 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3619:Mef2a
|
UTSW |
7 |
66,918,075 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4576:Mef2a
|
UTSW |
7 |
66,890,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4577:Mef2a
|
UTSW |
7 |
66,890,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4578:Mef2a
|
UTSW |
7 |
66,890,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4635:Mef2a
|
UTSW |
7 |
66,890,175 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5805:Mef2a
|
UTSW |
7 |
66,901,416 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7655:Mef2a
|
UTSW |
7 |
66,945,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7656:Mef2a
|
UTSW |
7 |
66,945,142 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8182:Mef2a
|
UTSW |
7 |
66,917,875 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8526:Mef2a
|
UTSW |
7 |
66,901,473 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8870:Mef2a
|
UTSW |
7 |
66,890,176 (GRCm39) |
missense |
probably benign |
|
|
X0011:Mef2a
|
UTSW |
7 |
66,884,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGAACCAGGAAGCCTTAGGTCAC -3'
(R):5'- TTAGGCCCTCAGTCTTCTCAGACAG -3'
Sequencing Primer
(F):5'- CCTCATGCGTTTTACAGAAGG -3'
(R):5'- CAGACAGTTTCCTGAGCTTTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation