Incidental Mutation 'R0704:Mef2a'
ID |
63092 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mef2a
|
Ensembl Gene |
ENSMUSG00000030557 |
Gene Name |
myocyte enhancer factor 2A |
Synonyms |
A430079H05Rik |
MMRRC Submission |
038887-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0704 (G1)
|
Quality Score |
138 |
Status
|
Not 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: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
Validation Efficiency |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
A |
7: 40,643,381 (GRCm39) |
L441Q |
probably damaging |
Het |
Abca15 |
A |
T |
7: 119,953,746 (GRCm39) |
E550V |
probably damaging |
Het |
Adcy4 |
A |
G |
14: 56,010,213 (GRCm39) |
F690L |
probably benign |
Het |
Aspg |
T |
A |
12: 112,080,906 (GRCm39) |
N132K |
probably damaging |
Het |
B430305J03Rik |
A |
T |
3: 61,271,414 (GRCm39) |
Y110* |
probably null |
Het |
Cep135 |
A |
G |
5: 76,778,796 (GRCm39) |
E741G |
possibly damaging |
Het |
Cplane1 |
T |
C |
15: 8,239,567 (GRCm39) |
V1256A |
possibly damaging |
Het |
Dkkl1 |
T |
C |
7: 44,859,539 (GRCm39) |
K128E |
probably damaging |
Het |
Duox2 |
A |
T |
2: 122,115,249 (GRCm39) |
M1101K |
probably benign |
Het |
Gpr89 |
T |
C |
3: 96,787,484 (GRCm39) |
|
probably null |
Het |
Hormad1 |
T |
C |
3: 95,473,997 (GRCm39) |
|
probably null |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
Itga2 |
A |
G |
13: 114,998,911 (GRCm39) |
F658S |
possibly damaging |
Het |
Kcnc4 |
T |
C |
3: 107,355,279 (GRCm39) |
I390V |
possibly damaging |
Het |
Krt84 |
G |
T |
15: 101,441,112 (GRCm39) |
H27N |
probably benign |
Het |
Lama5 |
A |
G |
2: 179,821,277 (GRCm39) |
I3095T |
possibly damaging |
Het |
Ms4a1 |
T |
C |
19: 11,230,596 (GRCm39) |
T202A |
probably benign |
Het |
Nrbp2 |
A |
G |
15: 75,960,801 (GRCm39) |
S294P |
probably damaging |
Het |
Or6b13 |
A |
G |
7: 139,782,548 (GRCm39) |
V45A |
probably benign |
Het |
Or6c215 |
A |
G |
10: 129,638,172 (GRCm39) |
V74A |
probably benign |
Het |
Pde4b |
C |
T |
4: 102,344,589 (GRCm39) |
L155F |
probably damaging |
Het |
Pds5a |
A |
G |
5: 65,777,928 (GRCm39) |
S6P |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,293,704 (GRCm39) |
L150Q |
probably damaging |
Het |
Reln |
C |
T |
5: 22,101,809 (GRCm39) |
V3374I |
probably damaging |
Het |
Rgs12 |
T |
G |
5: 35,180,466 (GRCm39) |
S253A |
possibly damaging |
Het |
Sap130 |
C |
A |
18: 31,786,607 (GRCm39) |
T266K |
probably damaging |
Het |
Sis |
T |
C |
3: 72,857,155 (GRCm39) |
I379V |
possibly damaging |
Het |
Slc39a10 |
T |
A |
1: 46,875,021 (GRCm39) |
I94F |
possibly damaging |
Het |
Sptb |
A |
T |
12: 76,630,368 (GRCm39) |
N2263K |
probably damaging |
Het |
Srsf12 |
A |
G |
4: 33,231,069 (GRCm39) |
R188G |
probably damaging |
Het |
Ssxb9 |
T |
G |
X: 8,238,022 (GRCm39) |
S130R |
probably damaging |
Het |
Tg |
A |
G |
15: 66,629,729 (GRCm39) |
D470G |
probably benign |
Het |
Urb1 |
T |
C |
16: 90,573,095 (GRCm39) |
Q979R |
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Zfp78 |
T |
A |
7: 6,382,251 (GRCm39) |
C402S |
probably 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 |
|
R0584: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 |
|
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 |
2013-07-30 |