Incidental Mutation 'R8526:Mef2a'
| ID |
658808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mef2a
|
| Ensembl Gene |
ENSMUSG00000030557 |
| Gene Name |
myocyte enhancer factor 2A |
| Synonyms |
A430079H05Rik |
| MMRRC Submission |
067951-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8526 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
66880911-67022606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66901473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 100
(M100V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032776]
[ENSMUST00000072460]
[ENSMUST00000076325]
[ENSMUST00000107476]
[ENSMUST00000133074]
[ENSMUST00000135493]
[ENSMUST00000156690]
[ENSMUST00000207715]
[ENSMUST00000208512]
|
| AlphaFold |
Q60929 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032776
AA Change: M266V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000032776
Gene: ENSMUSG00000030557
AA Change: M266V
| 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 benign
Transcript: ENSMUST00000076325
AA Change: M266V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000075664
Gene: ENSMUSG00000030557
AA Change: M266V
| 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: ENSMUST00000107476
AA Change: M264V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103100
Gene: ENSMUSG00000030557
AA Change: M264V
| 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 |
probably benign
Transcript: ENSMUST00000135493
AA Change: M264V
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000138566
Gene: ENSMUSG00000030557
AA Change: M264V
| 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 benign
Transcript: ENSMUST00000156690
AA Change: M264V
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000117496
Gene: ENSMUSG00000030557
AA Change: M264V
| 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: M100V
PolyPhen 2
Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208512
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,417,935 (GRCm39) |
C706* |
probably null |
Het |
| 4930522L14Rik |
T |
C |
5: 109,885,655 (GRCm39) |
I68V |
possibly damaging |
Het |
| 4931422A03Rik |
G |
A |
2: 103,856,499 (GRCm39) |
R21C |
unknown |
Het |
| Actr5 |
T |
G |
2: 158,474,224 (GRCm39) |
F342L |
probably damaging |
Het |
| Adamts13 |
T |
C |
2: 26,868,012 (GRCm39) |
V124A |
probably benign |
Het |
| Amotl1 |
T |
C |
9: 14,473,492 (GRCm39) |
E606G |
probably damaging |
Het |
| Carmil2 |
C |
T |
8: 106,415,447 (GRCm39) |
A265V |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,954,178 (GRCm39) |
E781G |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 138,950,858 (GRCm39) |
W33* |
probably null |
Het |
| Dlc1 |
C |
T |
8: 37,404,968 (GRCm39) |
V274I |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Ect2l |
C |
T |
10: 18,020,375 (GRCm39) |
E582K |
probably benign |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Ift88 |
A |
T |
14: 57,683,126 (GRCm39) |
K40* |
probably null |
Het |
| Igkv4-72 |
A |
G |
6: 69,204,140 (GRCm39) |
V17A |
probably benign |
Het |
| Klhl28 |
T |
G |
12: 64,998,400 (GRCm39) |
T365P |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,137,309 (GRCm39) |
Y434F |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,935,391 (GRCm39) |
V3620E |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,506,221 (GRCm39) |
|
probably benign |
Het |
| Mos |
T |
C |
4: 3,871,709 (GRCm39) |
K36E |
probably damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,403,679 (GRCm39) |
Y864H |
probably benign |
Het |
| Or1o2 |
A |
G |
17: 37,542,470 (GRCm39) |
S264P |
probably damaging |
Het |
| Or4k2 |
C |
T |
14: 50,423,719 (GRCm39) |
|
probably null |
Het |
| Parp14 |
A |
T |
16: 35,661,307 (GRCm39) |
I1547N |
possibly damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,710,023 (GRCm39) |
Y431N |
probably damaging |
Het |
| Phyhd1 |
T |
C |
2: 30,156,955 (GRCm39) |
|
probably null |
Het |
| Pkd2 |
T |
C |
5: 104,637,102 (GRCm39) |
F572L |
probably damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,856,901 (GRCm39) |
I453N |
probably damaging |
Het |
| Robo4 |
T |
A |
9: 37,314,801 (GRCm39) |
C218* |
probably null |
Het |
| Rrbp1 |
A |
G |
2: 143,816,403 (GRCm39) |
V742A |
probably benign |
Het |
| Serpinb3a |
A |
T |
1: 106,976,504 (GRCm39) |
|
probably null |
Het |
| Sgsm2 |
T |
G |
11: 74,759,847 (GRCm39) |
E97A |
probably benign |
Het |
| Smad4 |
A |
T |
18: 73,790,330 (GRCm39) |
|
probably null |
Het |
| Snd1 |
T |
C |
6: 28,745,253 (GRCm39) |
Y533H |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Stk36 |
A |
G |
1: 74,673,703 (GRCm39) |
T1199A |
probably benign |
Het |
| Veph1 |
T |
A |
3: 66,066,737 (GRCm39) |
N417I |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,362 (GRCm39) |
S138G |
probably benign |
Het |
| Vmn2r10 |
C |
T |
5: 109,145,572 (GRCm39) |
V512I |
possibly damaging |
Het |
| Zfp740 |
A |
G |
15: 102,116,726 (GRCm39) |
D47G |
probably null |
Het |
| Zfp810 |
T |
C |
9: 22,189,586 (GRCm39) |
K441E |
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 |
|
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 |
|
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'- TCTAAAGAAAGTTTTCAGCCTGAG -3'
(R):5'- CCTCCCATTTCAAGATTTCAAGATAG -3'
Sequencing Primer
(F):5'- AGCACTTAAATGTCTTTCTTCAACTC -3'
(R):5'- CATATATATGGGCAGTTAGCA -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation