Incidental Mutation 'R5805:Mef2a'
ID |
448446 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mef2a
|
Ensembl Gene |
ENSMUSG00000030557 |
Gene Name |
myocyte enhancer factor 2A |
Synonyms |
A430079H05Rik |
MMRRC Submission |
043212-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5805 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
66880911-67022606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66901416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 285
(M285V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075664
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032776]
[ENSMUST00000072460]
[ENSMUST00000076325]
[ENSMUST00000107476]
[ENSMUST00000133074]
[ENSMUST00000135493]
[ENSMUST00000156690]
[ENSMUST00000207715]
[ENSMUST00000208512]
|
AlphaFold |
Q60929 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032776
AA Change: M285V
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032776 Gene: ENSMUSG00000030557 AA Change: M285V
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 |
possibly damaging
Transcript: ENSMUST00000076325
AA Change: M285V
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000075664 Gene: ENSMUSG00000030557 AA Change: M285V
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 |
possibly damaging
Transcript: ENSMUST00000107476
AA Change: M283V
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103100 Gene: ENSMUSG00000030557 AA Change: M283V
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 benign
Transcript: ENSMUST00000133074
|
SMART Domains |
Protein: ENSMUSP00000116144 Gene: ENSMUSG00000030557
Domain | Start | End | E-Value | Type |
MADS
|
1 |
60 |
6.15e-37 |
SMART |
Pfam:HJURP_C
|
90 |
153 |
8.7e-9 |
PFAM |
low complexity region
|
159 |
179 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135493
AA Change: M283V
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000138566 Gene: ENSMUSG00000030557 AA Change: M283V
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 |
possibly damaging
Transcript: ENSMUST00000156690
AA Change: M283V
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117496 Gene: ENSMUSG00000030557 AA Change: M283V
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 |
possibly damaging
Transcript: ENSMUST00000207715
AA Change: M119V
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207794
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208512
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
C |
T |
11: 110,170,216 (GRCm39) |
C1293Y |
probably benign |
Het |
Adam8 |
T |
A |
7: 139,565,794 (GRCm39) |
D611V |
probably damaging |
Het |
Arhgap33 |
T |
C |
7: 30,225,839 (GRCm39) |
T576A |
probably benign |
Het |
Atf7 |
A |
T |
15: 102,466,022 (GRCm39) |
|
probably null |
Het |
Baiap3 |
T |
A |
17: 25,466,489 (GRCm39) |
T464S |
probably benign |
Het |
Ccdc40 |
T |
C |
11: 119,136,906 (GRCm39) |
|
probably null |
Het |
Celf2 |
T |
C |
2: 6,558,598 (GRCm39) |
E430G |
probably damaging |
Het |
Chia1 |
A |
G |
3: 106,035,792 (GRCm39) |
T211A |
probably damaging |
Het |
Ciz1 |
T |
C |
2: 32,257,408 (GRCm39) |
F151S |
probably damaging |
Het |
Dnm2 |
A |
G |
9: 21,378,965 (GRCm39) |
T175A |
probably damaging |
Het |
Doc2b |
A |
G |
11: 75,663,364 (GRCm39) |
S363P |
probably damaging |
Het |
Garem1 |
C |
T |
18: 21,281,492 (GRCm39) |
R288H |
probably benign |
Het |
Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
Helz2 |
C |
A |
2: 180,882,301 (GRCm39) |
C164F |
probably damaging |
Het |
Itfg1 |
A |
T |
8: 86,493,601 (GRCm39) |
S293T |
probably benign |
Het |
Kcnn2 |
T |
A |
18: 45,816,198 (GRCm39) |
D336E |
probably damaging |
Het |
Kifc2 |
C |
T |
15: 76,546,353 (GRCm39) |
A245V |
probably benign |
Het |
Krt18 |
T |
A |
15: 101,939,735 (GRCm39) |
I311N |
probably benign |
Het |
Lypla1 |
T |
C |
1: 4,900,517 (GRCm39) |
M7T |
possibly damaging |
Het |
Micu1 |
A |
C |
10: 59,663,128 (GRCm39) |
K353Q |
possibly damaging |
Het |
Mpv17l |
A |
G |
16: 13,760,013 (GRCm39) |
|
probably benign |
Het |
Ntrk1 |
G |
A |
3: 87,687,479 (GRCm39) |
R652W |
probably damaging |
Het |
Or13a28 |
T |
A |
7: 140,218,384 (GRCm39) |
F257I |
probably benign |
Het |
Or13c7 |
T |
C |
4: 43,855,152 (GRCm39) |
I281T |
probably benign |
Het |
Or4c107 |
G |
A |
2: 88,788,985 (GRCm39) |
M58I |
possibly damaging |
Het |
Pcdh15 |
C |
A |
10: 74,066,091 (GRCm39) |
T252K |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,434,193 (GRCm39) |
M1392V |
probably benign |
Het |
Phf20 |
T |
A |
2: 156,149,214 (GRCm39) |
V964E |
probably damaging |
Het |
Pira13 |
G |
A |
7: 3,825,622 (GRCm39) |
L416F |
probably benign |
Het |
Plcg2 |
T |
C |
8: 118,325,234 (GRCm39) |
|
probably null |
Het |
Rnf10 |
A |
T |
5: 115,382,127 (GRCm39) |
C693S |
probably benign |
Het |
Rnf19b |
A |
G |
4: 128,952,617 (GRCm39) |
Y185C |
probably damaging |
Het |
Ros1 |
G |
T |
10: 51,999,385 (GRCm39) |
D1167E |
probably damaging |
Het |
Sidt2 |
G |
A |
9: 45,853,497 (GRCm39) |
S701L |
probably damaging |
Het |
Slc66a2 |
C |
T |
18: 80,306,658 (GRCm39) |
P76L |
probably damaging |
Het |
Spag1 |
T |
C |
15: 36,200,430 (GRCm39) |
I345T |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,141,211 (GRCm39) |
S1603T |
possibly damaging |
Het |
Stag1 |
T |
A |
9: 100,678,831 (GRCm39) |
Y251N |
probably damaging |
Het |
Stxbp5 |
T |
C |
10: 9,776,330 (GRCm39) |
N33S |
probably benign |
Het |
Tnrc6a |
T |
C |
7: 122,769,299 (GRCm39) |
L363P |
probably damaging |
Het |
U2surp |
C |
T |
9: 95,361,357 (GRCm39) |
R591H |
possibly damaging |
Het |
Usf3 |
A |
G |
16: 44,041,109 (GRCm39) |
N1863S |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,434,806 (GRCm39) |
I633V |
possibly damaging |
Het |
Zfp979 |
T |
C |
4: 147,698,067 (GRCm39) |
D214G |
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 |
|
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 |
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'- GCAAGCATTCTTTCCTAGATAGTC -3'
(R):5'- GGATTTGTAAACTCAAGGGCCTC -3'
Sequencing Primer
(F):5'- TCTAAAGAAAGTTTTCAGCCTGAG -3'
(R):5'- CAAGGGCCTCTCCAAATTTGATTG -3'
|
Posted On |
2016-12-15 |