Incidental Mutation 'R8438:Mef2c'
| ID |
654118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mef2c
|
| Ensembl Gene |
ENSMUSG00000005583 |
| Gene Name |
myocyte enhancer factor 2C |
| Synonyms |
5430401D19Rik, 9930028G15Rik |
| MMRRC Submission |
067778-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8438 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
83652153-83815199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83804336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 312
(E312G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005722]
[ENSMUST00000163888]
[ENSMUST00000185052]
[ENSMUST00000197145]
[ENSMUST00000197146]
[ENSMUST00000197681]
[ENSMUST00000197722]
[ENSMUST00000198199]
[ENSMUST00000197938]
[ENSMUST00000198217]
[ENSMUST00000198360]
[ENSMUST00000199019]
[ENSMUST00000199105]
[ENSMUST00000199167]
[ENSMUST00000199210]
[ENSMUST00000199432]
[ENSMUST00000199450]
|
| AlphaFold |
Q8CFN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005722
AA Change: E312G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005722
Gene: ENSMUSG00000005583
AA Change: E312G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.29e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
154 |
5.3e-27 |
PFAM |
|
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163888
AA Change: E332G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132547
Gene: ENSMUSG00000005583
AA Change: E332G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.29e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
155 |
1.4e-17 |
PFAM |
|
low complexity region
|
316 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185052
AA Change: E320G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138826
Gene: ENSMUSG00000005583
AA Change: E320G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.29e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
154 |
6e-27 |
PFAM |
|
low complexity region
|
322 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197145
AA Change: E85G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142619
Gene: ENSMUSG00000005583
AA Change: E85G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
97 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197146
AA Change: E322G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143227
Gene: ENSMUSG00000005583
AA Change: E322G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.29e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
156 |
9.5e-15 |
PFAM |
|
low complexity region
|
324 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197681
AA Change: E322G
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143420
Gene: ENSMUSG00000005583
AA Change: E322G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.29e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
156 |
9.5e-15 |
PFAM |
|
low complexity region
|
324 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197722
AA Change: E322G
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142456
Gene: ENSMUSG00000005583
AA Change: E322G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
1.1e-39 |
SMART |
|
Pfam:HJURP_C
|
90 |
156 |
2.8e-12 |
PFAM |
|
low complexity region
|
324 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
374 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198199
AA Change: E312G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143742
Gene: ENSMUSG00000005583
AA Change: E312G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.29e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
153 |
2e-23 |
PFAM |
|
low complexity region
|
314 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197938
|
| SMART Domains |
Protein: ENSMUSP00000143187
Gene: ENSMUSG00000005583
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
1.1e-39 |
SMART |
|
Pfam:HJURP_C
|
90 |
154 |
6.8e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198217
AA Change: E266G
PolyPhen 2
Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142487
Gene: ENSMUSG00000005583
AA Change: E266G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
1.1e-39 |
SMART |
|
low complexity region
|
268 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
380 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198360
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199019
AA Change: E322G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143401
Gene: ENSMUSG00000005583
AA Change: E322G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.29e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
156 |
1.1e-14 |
PFAM |
|
low complexity region
|
324 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199105
AA Change: E322G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143212
Gene: ENSMUSG00000005583
AA Change: E322G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.29e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
156 |
1.1e-14 |
PFAM |
|
low complexity region
|
324 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199167
|
| SMART Domains |
Protein: ENSMUSP00000142884
Gene: ENSMUSG00000005583
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
1.1e-39 |
SMART |
|
Pfam:HJURP_C
|
90 |
154 |
6e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199210
AA Change: E274G
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142595
Gene: ENSMUSG00000005583
AA Change: E274G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
1.1e-39 |
SMART |
|
low complexity region
|
276 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
356 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199432
AA Change: E314G
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142714
Gene: ENSMUSG00000005583
AA Change: E314G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
1.1e-39 |
SMART |
|
Pfam:HJURP_C
|
90 |
156 |
3.1e-12 |
PFAM |
|
low complexity region
|
316 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199450
AA Change: E314G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143315
Gene: ENSMUSG00000005583
AA Change: E314G
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.29e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
156 |
5.1e-15 |
PFAM |
|
low complexity region
|
316 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
428 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene have cardiovascular abnormalities and die as embryos. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
C |
T |
9: 15,201,962 (GRCm39) |
|
probably null |
Het |
| 5730480H06Rik |
A |
T |
5: 48,534,425 (GRCm39) |
H95L |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,966,404 (GRCm39) |
Y410H |
probably damaging |
Het |
| Abcb4 |
G |
A |
5: 8,996,120 (GRCm39) |
|
probably null |
Het |
| Adam8 |
C |
T |
7: 139,565,249 (GRCm39) |
|
probably null |
Het |
| Aldh1l1 |
C |
T |
6: 90,536,428 (GRCm39) |
P111L |
probably damaging |
Het |
| Baz2b |
G |
T |
2: 59,747,828 (GRCm39) |
Y1278* |
probably null |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Casp9 |
C |
A |
4: 141,540,934 (GRCm39) |
T434N |
probably benign |
Het |
| Cd19 |
C |
A |
7: 126,013,515 (GRCm39) |
M91I |
possibly damaging |
Het |
| Celsr2 |
G |
A |
3: 108,301,139 (GRCm39) |
T2718M |
probably damaging |
Het |
| Clptm1 |
G |
T |
7: 19,379,776 (GRCm39) |
D153E |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,515,517 (GRCm39) |
G127S |
unknown |
Het |
| Col1a2 |
G |
T |
6: 4,515,518 (GRCm39) |
G127V |
unknown |
Het |
| Crybg3 |
A |
G |
16: 59,385,655 (GRCm39) |
S190P |
probably benign |
Het |
| Ddrgk1 |
G |
A |
2: 130,505,302 (GRCm39) |
|
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,746,150 (GRCm39) |
H402R |
probably benign |
Het |
| Dgat2 |
T |
C |
7: 98,806,207 (GRCm39) |
Y330C |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,227,839 (GRCm39) |
C1354Y |
probably damaging |
Het |
| Ecd |
T |
A |
14: 20,388,533 (GRCm39) |
I119L |
possibly damaging |
Het |
| Entpd1 |
A |
G |
19: 40,725,224 (GRCm39) |
K437E |
possibly damaging |
Het |
| Fcgbp |
C |
T |
7: 27,789,231 (GRCm39) |
A599V |
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,241,701 (GRCm39) |
S1999* |
probably null |
Het |
| Hesx1 |
C |
T |
14: 26,723,460 (GRCm39) |
R97C |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hoxb3 |
A |
G |
11: 96,236,609 (GRCm39) |
N229S |
probably benign |
Het |
| Itpk1 |
G |
A |
12: 102,572,418 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
C |
T |
6: 55,874,878 (GRCm39) |
S276L |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,289,153 (GRCm39) |
D549G |
probably benign |
Het |
| Morn5 |
A |
G |
2: 35,945,076 (GRCm39) |
K100R |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,430,455 (GRCm39) |
D610E |
probably benign |
Het |
| Obox6 |
G |
C |
7: 15,567,853 (GRCm39) |
A198G |
probably damaging |
Het |
| Or2t43 |
A |
T |
11: 58,457,665 (GRCm39) |
S169T |
possibly damaging |
Het |
| Or4a75 |
C |
T |
2: 89,448,054 (GRCm39) |
V161M |
possibly damaging |
Het |
| Or4a80 |
A |
T |
2: 89,583,061 (GRCm39) |
M37K |
probably damaging |
Het |
| Or6b13 |
C |
A |
7: 139,782,170 (GRCm39) |
C171F |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,825,232 (GRCm39) |
N741S |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,877,379 (GRCm39) |
N575D |
probably benign |
Het |
| Plxna4 |
C |
A |
6: 32,179,115 (GRCm39) |
G967W |
probably damaging |
Het |
| Ppp3cb |
C |
T |
14: 20,565,658 (GRCm39) |
M373I |
probably damaging |
Het |
| Sec14l2 |
C |
A |
11: 4,059,202 (GRCm39) |
E156* |
probably null |
Het |
| Srrt |
A |
T |
5: 137,301,262 (GRCm39) |
Y55N |
unknown |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Thada |
G |
A |
17: 84,743,057 (GRCm39) |
T789I |
probably damaging |
Het |
| Top3b |
G |
T |
16: 16,709,364 (GRCm39) |
S684I |
probably benign |
Het |
| Trpc4 |
A |
G |
3: 54,129,674 (GRCm39) |
I147V |
possibly damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,454,363 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
T |
A |
6: 58,449,646 (GRCm39) |
D73V |
|
Het |
| Wasf3 |
A |
T |
5: 146,390,237 (GRCm39) |
Q127L |
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,760,054 (GRCm39) |
T182A |
possibly damaging |
Het |
| Xpo7 |
C |
A |
14: 70,940,672 (GRCm39) |
R139S |
probably benign |
Het |
| Zfp687 |
A |
T |
3: 94,915,433 (GRCm39) |
S1058T |
probably benign |
Het |
| Zfp786 |
T |
C |
6: 47,796,934 (GRCm39) |
E668G |
probably damaging |
Het |
| Zfp831 |
A |
T |
2: 174,486,796 (GRCm39) |
R490S |
possibly damaging |
Het |
|
| Other mutations in Mef2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Mef2c
|
APN |
13 |
83,773,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01012:Mef2c
|
APN |
13 |
83,803,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03131:Mef2c
|
APN |
13 |
83,810,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03186:Mef2c
|
APN |
13 |
83,800,987 (GRCm39) |
missense |
probably benign |
0.03 |
|
LCD18:Mef2c
|
UTSW |
13 |
83,753,942 (GRCm39) |
intron |
probably benign |
|
|
R0021:Mef2c
|
UTSW |
13 |
83,804,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Mef2c
|
UTSW |
13 |
83,800,992 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0480:Mef2c
|
UTSW |
13 |
83,741,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0755:Mef2c
|
UTSW |
13 |
83,804,472 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1290:Mef2c
|
UTSW |
13 |
83,810,478 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4085:Mef2c
|
UTSW |
13 |
83,723,821 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4734:Mef2c
|
UTSW |
13 |
83,810,748 (GRCm39) |
makesense |
probably null |
|
|
R5230:Mef2c
|
UTSW |
13 |
83,801,026 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5385:Mef2c
|
UTSW |
13 |
83,810,532 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6032:Mef2c
|
UTSW |
13 |
83,810,478 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6032:Mef2c
|
UTSW |
13 |
83,810,478 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6258:Mef2c
|
UTSW |
13 |
83,801,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6670:Mef2c
|
UTSW |
13 |
83,810,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6672:Mef2c
|
UTSW |
13 |
83,800,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Mef2c
|
UTSW |
13 |
83,773,525 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6703:Mef2c
|
UTSW |
13 |
83,773,525 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6881:Mef2c
|
UTSW |
13 |
83,741,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6907:Mef2c
|
UTSW |
13 |
83,802,730 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7503:Mef2c
|
UTSW |
13 |
83,810,623 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8168:Mef2c
|
UTSW |
13 |
83,804,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9374:Mef2c
|
UTSW |
13 |
83,810,461 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9552:Mef2c
|
UTSW |
13 |
83,810,461 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1177:Mef2c
|
UTSW |
13 |
83,773,385 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTGACATCCTTACTCAGATGG -3'
(R):5'- GCGCATTGTTGAAGACAGAC -3'
Sequencing Primer
(F):5'- caaattatCCGTGGTGTTTT -3'
(R):5'- CAGATGGCGGCATGTTAT -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation