Incidental Mutation 'IGL01012:Mef2c'
| ID |
53934 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mef2c
|
| Ensembl Gene |
ENSMUSG00000005583 |
| Gene Name |
myocyte enhancer factor 2C |
| Synonyms |
5430401D19Rik, 9930028G15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
83652153-83815199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83803714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 306
(M306K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138826
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005722]
[ENSMUST00000163888]
[ENSMUST00000185052]
[ENSMUST00000197145]
[ENSMUST00000197146]
[ENSMUST00000197681]
[ENSMUST00000197722]
[ENSMUST00000199210]
[ENSMUST00000199019]
[ENSMUST00000198217]
[ENSMUST00000199105]
[ENSMUST00000199432]
[ENSMUST00000199450]
[ENSMUST00000198199]
[ENSMUST00000199167]
[ENSMUST00000198360]
[ENSMUST00000197938]
|
| AlphaFold |
Q8CFN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005722
AA Change: M298K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000005722
Gene: ENSMUSG00000005583
AA Change: M298K
| 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: M318K
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132547
Gene: ENSMUSG00000005583
AA Change: M318K
| 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: M306K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138826
Gene: ENSMUSG00000005583
AA Change: M306K
| 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: M71K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142619
Gene: ENSMUSG00000005583
AA Change: M71K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
97 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197146
AA Change: M308K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143227
Gene: ENSMUSG00000005583
AA Change: M308K
| 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 |
probably damaging
Transcript: ENSMUST00000197681
AA Change: M308K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143420
Gene: ENSMUSG00000005583
AA Change: M308K
| 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: M308K
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142456
Gene: ENSMUSG00000005583
AA Change: M308K
| 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 |
possibly damaging
Transcript: ENSMUST00000199210
AA Change: M260K
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142595
Gene: ENSMUSG00000005583
AA Change: M260K
| 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 |
probably damaging
Transcript: ENSMUST00000199019
AA Change: M308K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143401
Gene: ENSMUSG00000005583
AA Change: M308K
| 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: ENSMUST00000198217
AA Change: M252K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142487
Gene: ENSMUSG00000005583
AA Change: M252K
| 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 damaging
Transcript: ENSMUST00000199105
AA Change: M308K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143212
Gene: ENSMUSG00000005583
AA Change: M308K
| 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: ENSMUST00000199432
AA Change: M300K
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142714
Gene: ENSMUSG00000005583
AA Change: M300K
| 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: M300K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143315
Gene: ENSMUSG00000005583
AA Change: M300K
| 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 |
unknown
Transcript: ENSMUST00000200138
AA Change: M167K
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198199
AA Change: M298K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143742
Gene: ENSMUSG00000005583
AA Change: M298K
| 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: 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 |
probably benign
Transcript: ENSMUST00000198360
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
T |
18: 61,972,772 (GRCm39) |
M249K |
possibly damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,260,426 (GRCm39) |
F879S |
possibly damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,918,693 (GRCm39) |
E30G |
probably damaging |
Het |
| Aqp9 |
A |
G |
9: 71,037,831 (GRCm39) |
|
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,885,791 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,029,977 (GRCm39) |
S921P |
probably damaging |
Het |
| Atp6v0e2 |
T |
C |
6: 48,514,749 (GRCm39) |
I22T |
probably damaging |
Het |
| AY074887 |
C |
T |
9: 54,857,963 (GRCm39) |
|
probably benign |
Het |
| Bcl2l15 |
T |
A |
3: 103,740,730 (GRCm39) |
D65E |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,036,507 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
G |
A |
10: 58,376,737 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
A |
G |
8: 129,904,838 (GRCm39) |
T159A |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 61,615,474 (GRCm39) |
T659A |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,123 (GRCm39) |
I241F |
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,945,477 (GRCm39) |
N192K |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 15,967,341 (GRCm39) |
K3174R |
probably benign |
Het |
| Dpy30 |
A |
T |
17: 74,614,749 (GRCm39) |
L65I |
probably damaging |
Het |
| Eci2 |
A |
T |
13: 35,174,312 (GRCm39) |
L83* |
probably null |
Het |
| F7 |
A |
T |
8: 13,083,409 (GRCm39) |
E183V |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,935,512 (GRCm39) |
K214R |
probably benign |
Het |
| Galr2 |
A |
T |
11: 116,173,996 (GRCm39) |
T209S |
probably damaging |
Het |
| Gimap9 |
T |
C |
6: 48,654,851 (GRCm39) |
|
probably null |
Het |
| Gip |
C |
A |
11: 95,916,285 (GRCm39) |
F28L |
probably benign |
Het |
| Gpd2 |
A |
G |
2: 57,254,542 (GRCm39) |
N662S |
probably benign |
Het |
| Grik2 |
T |
G |
10: 49,149,052 (GRCm39) |
D511A |
probably damaging |
Het |
| Ift122 |
T |
A |
6: 115,876,452 (GRCm39) |
Y563N |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,690,561 (GRCm39) |
|
probably benign |
Het |
| Islr |
T |
C |
9: 58,064,511 (GRCm39) |
E332G |
probably damaging |
Het |
| Itgb7 |
G |
A |
15: 102,136,020 (GRCm39) |
S5L |
probably benign |
Het |
| Itpr2 |
G |
A |
6: 146,246,659 (GRCm39) |
R1087W |
probably damaging |
Het |
| Katnal2 |
C |
A |
18: 77,105,250 (GRCm39) |
V66F |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,900 (GRCm39) |
D284G |
probably benign |
Het |
| Krtap4-8 |
T |
A |
11: 99,670,831 (GRCm39) |
|
probably benign |
Het |
| Map1s |
C |
A |
8: 71,366,554 (GRCm39) |
N486K |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,872,093 (GRCm39) |
D842N |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,022,159 (GRCm39) |
V377I |
probably benign |
Het |
| Myocd |
C |
T |
11: 65,075,451 (GRCm39) |
G558R |
possibly damaging |
Het |
| Nars1 |
G |
T |
18: 64,638,039 (GRCm39) |
A305E |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,086,373 (GRCm39) |
N5233K |
probably benign |
Het |
| Nipsnap2 |
T |
C |
5: 129,823,503 (GRCm39) |
I181T |
possibly damaging |
Het |
| Or10d4b |
A |
T |
9: 39,534,661 (GRCm39) |
M81L |
probably benign |
Het |
| Or1s2 |
T |
C |
19: 13,758,937 (GRCm39) |
|
probably benign |
Het |
| P3h2 |
A |
C |
16: 25,805,998 (GRCm39) |
C282G |
probably damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,420,268 (GRCm39) |
C167S |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,781,526 (GRCm39) |
|
probably benign |
Het |
| Peli2 |
C |
T |
14: 48,490,187 (GRCm39) |
R169* |
probably null |
Het |
| Pramel16 |
T |
A |
4: 143,676,784 (GRCm39) |
|
probably benign |
Het |
| Psme3ip1 |
G |
A |
8: 95,313,990 (GRCm39) |
R104W |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,263,659 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Scap |
C |
A |
9: 110,191,488 (GRCm39) |
P50H |
probably damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,187,257 (GRCm39) |
D125E |
possibly damaging |
Het |
| Slc25a38 |
T |
C |
9: 119,945,560 (GRCm39) |
|
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,964,195 (GRCm39) |
V346A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,808,880 (GRCm39) |
N129I |
probably damaging |
Het |
| Sod2 |
C |
T |
17: 13,232,464 (GRCm39) |
A163V |
possibly damaging |
Het |
| Spred3 |
T |
A |
7: 28,860,948 (GRCm39) |
|
probably benign |
Het |
| Stag1 |
C |
A |
9: 100,737,912 (GRCm39) |
A423E |
possibly damaging |
Het |
| Stk17b |
A |
T |
1: 53,800,196 (GRCm39) |
S261T |
probably benign |
Het |
| Stx3 |
T |
C |
19: 11,769,152 (GRCm39) |
K58E |
probably damaging |
Het |
| Timm10b |
C |
A |
7: 105,290,345 (GRCm39) |
Y79* |
probably null |
Het |
| Tmem204 |
T |
C |
17: 25,289,329 (GRCm39) |
D97G |
probably damaging |
Het |
| Tnfrsf25 |
T |
C |
4: 152,202,885 (GRCm39) |
V181A |
probably benign |
Het |
| Trim54 |
T |
G |
5: 31,294,302 (GRCm39) |
S313A |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,078,714 (GRCm39) |
D1433E |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,706,555 (GRCm39) |
T462A |
probably benign |
Het |
| Wdr27 |
T |
A |
17: 15,146,509 (GRCm39) |
H162L |
probably 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 |
|
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 |
|
R8438:Mef2c
|
UTSW |
13 |
83,804,336 (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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation