Incidental Mutation 'R2166:Mef2a'
| ID |
235491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mef2a
|
| Ensembl Gene |
ENSMUSG00000030557 |
| Gene Name |
myocyte enhancer factor 2A |
| Synonyms |
A430079H05Rik |
| MMRRC Submission |
040169-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2166 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
66880911-67022606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66915870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 144
(V144A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032776]
[ENSMUST00000072460]
[ENSMUST00000076325]
[ENSMUST00000107476]
[ENSMUST00000133074]
[ENSMUST00000135493]
[ENSMUST00000156690]
[ENSMUST00000207715]
[ENSMUST00000208512]
|
| AlphaFold |
Q60929 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032776
AA Change: V146A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000032776
Gene: ENSMUSG00000030557
AA Change: V146A
| 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 damaging
Transcript: ENSMUST00000076325
AA Change: V146A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075664
Gene: ENSMUSG00000030557
AA Change: V146A
| 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 damaging
Transcript: ENSMUST00000107476
AA Change: V144A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103100
Gene: ENSMUSG00000030557
AA Change: V144A
| 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 |
possibly damaging
Transcript: ENSMUST00000133074
AA Change: V144A
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116144
Gene: ENSMUSG00000030557
AA Change: V144A
| 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 |
probably damaging
Transcript: ENSMUST00000135493
AA Change: V144A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138566
Gene: ENSMUSG00000030557
AA Change: V144A
| 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 damaging
Transcript: ENSMUST00000156690
AA Change: V144A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117496
Gene: ENSMUSG00000030557
AA Change: V144A
| 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 damaging
Transcript: ENSMUST00000207715
AA Change: V14A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207794
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208512
|
| Meta Mutation Damage Score |
0.1155 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,942,790 (GRCm39) |
T2761S |
probably benign |
Het |
| Cav1 |
A |
T |
6: 17,339,430 (GRCm39) |
I141F |
possibly damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,223,107 (GRCm39) |
F43L |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,565,898 (GRCm39) |
D39G |
possibly damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,579,513 (GRCm39) |
|
probably null |
Het |
| Il1b |
A |
T |
2: 129,206,968 (GRCm39) |
M264K |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,365,186 (GRCm39) |
Y38C |
probably damaging |
Het |
| Kcnb2 |
A |
C |
1: 15,781,540 (GRCm39) |
D804A |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,781,195 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,587,050 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
A |
G |
1: 136,113,791 (GRCm39) |
M666T |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,607,363 (GRCm39) |
Y702F |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,888,230 (GRCm39) |
K73I |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Or8g21 |
G |
A |
9: 38,906,513 (GRCm39) |
Q73* |
probably null |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Plbd1 |
A |
G |
6: 136,590,788 (GRCm39) |
|
probably null |
Het |
| Ppp1r10 |
G |
T |
17: 36,241,481 (GRCm39) |
R752L |
unknown |
Het |
| Prep |
T |
C |
10: 44,968,751 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,045,632 (GRCm39) |
N2134S |
possibly damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,210,523 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rtkn2 |
T |
C |
10: 67,877,526 (GRCm39) |
S532P |
possibly damaging |
Het |
| Rtl1 |
T |
A |
12: 109,556,988 (GRCm39) |
H1617L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,711,649 (GRCm39) |
N956I |
probably benign |
Het |
| Slc13a2 |
A |
G |
11: 78,293,901 (GRCm39) |
V287A |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,781,928 (GRCm39) |
K386E |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,369,930 (GRCm39) |
H789Y |
probably benign |
Het |
| Stk19 |
A |
G |
17: 35,051,486 (GRCm39) |
I23T |
possibly damaging |
Het |
| Tonsl |
A |
G |
15: 76,521,513 (GRCm39) |
I293T |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,190,128 (GRCm39) |
|
probably null |
Het |
| Trappc2l |
T |
A |
8: 123,339,901 (GRCm39) |
S44T |
probably benign |
Het |
| Tsr1 |
A |
G |
11: 74,798,280 (GRCm39) |
|
probably null |
Het |
| Ugdh |
A |
G |
5: 65,574,357 (GRCm39) |
|
probably benign |
Het |
| Unc119 |
A |
G |
11: 78,238,161 (GRCm39) |
|
probably null |
Het |
| Zkscan14 |
G |
A |
5: 145,132,944 (GRCm39) |
P196S |
probably benign |
Het |
| Zmat4 |
T |
C |
8: 24,392,152 (GRCm39) |
L36P |
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 |
|
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'- GTGACTCTTGTTCATTCTGACAAC -3'
(R):5'- AGCTTAACACTGCAAATGAAGC -3'
Sequencing Primer
(F):5'- GTCCTGGAACTCACTATGTAGAC -3'
(R):5'- TGCAAATGAAGCAACTGTTCC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation