Incidental Mutation 'R0589:Mef2a'
| ID |
55870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mef2a
|
| Ensembl Gene |
ENSMUSG00000030557 |
| Gene Name |
myocyte enhancer factor 2A |
| Synonyms |
A430079H05Rik |
| MMRRC Submission |
038779-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0589 (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: 97.3%
- 20x: 94.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
T |
11: 109,833,094 (GRCm39) |
A1202E |
probably damaging |
Het |
| Abcc12 |
A |
T |
8: 87,287,101 (GRCm39) |
I155N |
possibly damaging |
Het |
| Atf4 |
T |
A |
15: 80,140,640 (GRCm39) |
H47Q |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,401,492 (GRCm39) |
D1459V |
possibly damaging |
Het |
| Bicral |
A |
G |
17: 47,112,522 (GRCm39) |
S893P |
probably benign |
Het |
| Camk2a |
G |
A |
18: 61,097,036 (GRCm39) |
|
probably null |
Het |
| Cebpz |
G |
A |
17: 79,244,308 (GRCm39) |
T51I |
probably damaging |
Het |
| Cers5 |
A |
T |
15: 99,638,837 (GRCm39) |
D208E |
probably damaging |
Het |
| Cimip2b |
T |
C |
4: 43,427,355 (GRCm39) |
|
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,586,345 (GRCm39) |
D391G |
possibly damaging |
Het |
| Dct |
G |
T |
14: 118,280,682 (GRCm39) |
F111L |
probably benign |
Het |
| Ddb1 |
T |
G |
19: 10,599,080 (GRCm39) |
I529S |
probably benign |
Het |
| Dhx9 |
G |
T |
1: 153,348,037 (GRCm39) |
Q361K |
probably damaging |
Het |
| Dnai3 |
A |
G |
3: 145,768,086 (GRCm39) |
S592P |
probably benign |
Het |
| Erbin |
G |
T |
13: 104,022,795 (GRCm39) |
R15S |
probably damaging |
Het |
| F13b |
T |
C |
1: 139,434,671 (GRCm39) |
S146P |
possibly damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,727,277 (GRCm39) |
C520S |
probably damaging |
Het |
| Gpx3 |
A |
G |
11: 54,800,329 (GRCm39) |
I208V |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,076,629 (GRCm39) |
|
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,405,516 (GRCm39) |
|
probably benign |
Het |
| Heg1 |
T |
G |
16: 33,552,077 (GRCm39) |
I762R |
probably damaging |
Het |
| Ints11 |
A |
T |
4: 155,971,343 (GRCm39) |
T264S |
probably damaging |
Het |
| Ints14 |
T |
C |
9: 64,887,113 (GRCm39) |
L348P |
probably damaging |
Het |
| Maco1 |
C |
A |
4: 134,555,528 (GRCm39) |
C315F |
probably benign |
Het |
| Marf1 |
C |
A |
16: 13,959,919 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,174,075 (GRCm39) |
Y1808H |
probably damaging |
Het |
| Mrpl45 |
A |
T |
11: 97,214,714 (GRCm39) |
T134S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,189,453 (GRCm39) |
I1210V |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,131,303 (GRCm39) |
S223P |
probably damaging |
Het |
| Or2j6 |
T |
G |
7: 139,980,813 (GRCm39) |
S49R |
possibly damaging |
Het |
| Or4c115 |
A |
G |
2: 88,927,606 (GRCm39) |
F222L |
probably benign |
Het |
| Or5be3 |
A |
T |
2: 86,864,459 (GRCm39) |
Y35* |
probably null |
Het |
| P3h3 |
T |
A |
6: 124,818,644 (GRCm39) |
E731D |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,279,527 (GRCm39) |
R836G |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,376,385 (GRCm39) |
V1250A |
probably benign |
Het |
| Pgbd1 |
G |
A |
13: 21,618,600 (GRCm39) |
T19I |
possibly damaging |
Het |
| Phtf2 |
T |
A |
5: 21,018,249 (GRCm39) |
R31* |
probably null |
Het |
| Plod2 |
T |
A |
9: 92,475,799 (GRCm39) |
V294D |
probably benign |
Het |
| Rassf5 |
C |
T |
1: 131,172,720 (GRCm39) |
G50R |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,444,606 (GRCm39) |
T694A |
probably benign |
Het |
| Rtcb |
A |
C |
10: 85,787,315 (GRCm39) |
S82A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,172,042 (GRCm39) |
L255P |
probably damaging |
Het |
| Slc35c1 |
A |
G |
2: 92,284,859 (GRCm39) |
F252L |
probably damaging |
Het |
| Slco6d1 |
A |
T |
1: 98,427,472 (GRCm39) |
|
probably benign |
Het |
| Sox10 |
T |
G |
15: 79,047,485 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,529,028 (GRCm39) |
M1762V |
probably benign |
Het |
| Stat3 |
A |
T |
11: 100,798,909 (GRCm39) |
Y94N |
probably damaging |
Het |
| Tasor |
T |
C |
14: 27,183,107 (GRCm39) |
I522T |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,256,930 (GRCm39) |
Y1582F |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,355,453 (GRCm39) |
D454G |
probably damaging |
Het |
| Tle6 |
A |
G |
10: 81,431,253 (GRCm39) |
|
probably benign |
Het |
| Tmod2 |
T |
C |
9: 75,484,041 (GRCm39) |
E303G |
probably damaging |
Het |
| Trem1 |
A |
G |
17: 48,544,245 (GRCm39) |
D90G |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,284,229 (GRCm39) |
D751E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,795,589 (GRCm39) |
|
probably null |
Het |
| Vars2 |
T |
C |
17: 35,970,068 (GRCm39) |
T774A |
probably benign |
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 |
|
|
R0584: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