Incidental Mutation 'R0583:Mef2a'
ID |
56509 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mef2a
|
Ensembl Gene |
ENSMUSG00000030557 |
Gene Name |
myocyte enhancer factor 2A |
Synonyms |
A430079H05Rik |
MMRRC Submission |
038773-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0583 (G1)
|
Quality Score |
209 |
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 |
noncoding transcript
Transcript: ENSMUST00000208569
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207715
|
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: 97.1%
- 20x: 93.2%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
G |
9: 57,164,926 (GRCm39) |
S483P |
probably benign |
Het |
5730480H06Rik |
A |
G |
5: 48,537,470 (GRCm39) |
H169R |
probably damaging |
Het |
Actn1 |
T |
A |
12: 80,245,803 (GRCm39) |
I127F |
probably damaging |
Het |
Cadm3 |
T |
G |
1: 173,168,738 (GRCm39) |
T277P |
probably benign |
Het |
Cast |
T |
C |
13: 74,861,797 (GRCm39) |
T629A |
probably damaging |
Het |
Cblc |
C |
A |
7: 19,526,486 (GRCm39) |
C201F |
probably benign |
Het |
Ccdc154 |
T |
A |
17: 25,387,398 (GRCm39) |
D375E |
possibly damaging |
Het |
Cdk6 |
A |
G |
5: 3,523,183 (GRCm39) |
D201G |
probably damaging |
Het |
Cep95 |
T |
C |
11: 106,705,449 (GRCm39) |
V478A |
probably benign |
Het |
Ciita |
T |
C |
16: 10,341,668 (GRCm39) |
|
probably null |
Het |
Clec4e |
A |
G |
6: 123,260,653 (GRCm39) |
F135S |
probably damaging |
Het |
Cntn6 |
A |
G |
6: 104,753,275 (GRCm39) |
D337G |
possibly damaging |
Het |
Crlf3 |
A |
T |
11: 79,950,107 (GRCm39) |
H174Q |
probably damaging |
Het |
Cyb5r1 |
T |
A |
1: 134,335,339 (GRCm39) |
F93I |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,552,374 (GRCm39) |
I271T |
probably benign |
Het |
Duxf1 |
G |
A |
10: 58,059,210 (GRCm39) |
L515F |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
Fhad1 |
C |
T |
4: 141,631,301 (GRCm39) |
M1297I |
probably benign |
Het |
Igdcc4 |
T |
C |
9: 65,029,095 (GRCm39) |
V244A |
possibly damaging |
Het |
Ikzf5 |
A |
G |
7: 130,993,514 (GRCm39) |
|
probably null |
Het |
Ilvbl |
T |
A |
10: 78,419,101 (GRCm39) |
V450E |
probably damaging |
Het |
Kcns3 |
T |
G |
12: 11,141,479 (GRCm39) |
N407H |
probably damaging |
Het |
Klhl11 |
T |
C |
11: 100,355,150 (GRCm39) |
K224E |
possibly damaging |
Het |
Klra17 |
T |
A |
6: 129,845,656 (GRCm39) |
D186V |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,389,263 (GRCm39) |
D2054G |
probably benign |
Het |
Mrgbp |
A |
G |
2: 180,226,239 (GRCm39) |
N104S |
probably benign |
Het |
Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
Muc5ac |
C |
A |
7: 141,361,345 (GRCm39) |
T1552N |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,410,435 (GRCm39) |
Y1269* |
probably null |
Het |
Myef2 |
T |
C |
2: 124,939,901 (GRCm39) |
|
probably null |
Het |
Myg1 |
C |
T |
15: 102,246,225 (GRCm39) |
Q367* |
probably null |
Het |
Nalcn |
T |
C |
14: 123,531,755 (GRCm39) |
N1365S |
possibly damaging |
Het |
Nfu1 |
T |
C |
6: 86,986,934 (GRCm39) |
C18R |
probably benign |
Het |
Nkx2-6 |
A |
T |
14: 69,412,228 (GRCm39) |
Q132L |
probably damaging |
Het |
Or10a3b |
C |
T |
7: 108,444,621 (GRCm39) |
A199T |
possibly damaging |
Het |
Or8k38 |
T |
A |
2: 86,488,704 (GRCm39) |
I33F |
probably benign |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Prh1 |
A |
T |
6: 132,548,796 (GRCm39) |
Q101L |
unknown |
Het |
Ribc2 |
A |
T |
15: 85,017,115 (GRCm39) |
|
probably null |
Het |
Rnf19a |
C |
A |
15: 36,253,151 (GRCm39) |
R396L |
probably damaging |
Het |
Sdad1 |
A |
G |
5: 92,452,923 (GRCm39) |
I105T |
probably damaging |
Het |
Sec24b |
G |
T |
3: 129,834,960 (GRCm39) |
Y79* |
probably null |
Het |
Tatdn2 |
A |
G |
6: 113,679,486 (GRCm39) |
E277G |
possibly damaging |
Het |
Tex10 |
A |
C |
4: 48,451,952 (GRCm39) |
F725V |
probably damaging |
Het |
Themis3 |
T |
C |
17: 66,866,748 (GRCm39) |
D164G |
probably benign |
Het |
Ubxn7 |
T |
C |
16: 32,194,732 (GRCm39) |
W220R |
probably damaging |
Het |
Usp33 |
C |
A |
3: 152,073,891 (GRCm39) |
R246S |
probably damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,897,043 (GRCm39) |
V130E |
probably benign |
Het |
Vmn2r112 |
C |
T |
17: 22,837,930 (GRCm39) |
P797L |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Yme1l1 |
T |
C |
2: 23,076,262 (GRCm39) |
V340A |
probably damaging |
Het |
Zfta |
A |
G |
19: 7,397,639 (GRCm39) |
D62G |
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 |
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 |
|
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'- AAGCCTTAGGTCACCCATGTGTCC -3'
(R):5'- TTAGGCCCTCAGTCTTCTCAGACAG -3'
Sequencing Primer
(F):5'- CCTCATGCGTTTTACAGAAGG -3'
(R):5'- CAGACAGTTTCCTGAGCTTTG -3'
|
Posted On |
2013-07-11 |