Incidental Mutation 'IGL03131:Mef2c'
ID |
410326 |
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 # |
IGL03131
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
83652153-83815199 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83810494 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 382
(I382T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143315
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005722]
[ENSMUST00000163888]
[ENSMUST00000185052]
[ENSMUST00000197145]
[ENSMUST00000197146]
[ENSMUST00000197681]
[ENSMUST00000198217]
[ENSMUST00000199019]
[ENSMUST00000199105]
[ENSMUST00000199450]
[ENSMUST00000197722]
[ENSMUST00000199432]
[ENSMUST00000198199]
[ENSMUST00000199210]
|
AlphaFold |
Q8CFN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005722
AA Change: I380T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000005722 Gene: ENSMUSG00000005583 AA Change: I380T
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: I400T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132547 Gene: ENSMUSG00000005583 AA Change: I400T
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: I388T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138826 Gene: ENSMUSG00000005583 AA Change: I388T
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 benign
Transcript: ENSMUST00000197145
|
SMART Domains |
Protein: ENSMUSP00000142619 Gene: ENSMUSG00000005583
Domain | Start | End | E-Value | Type |
low complexity region
|
87 |
97 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197146
|
SMART Domains |
Protein: ENSMUSP00000143227 Gene: ENSMUSG00000005583
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 benign
Transcript: ENSMUST00000197681
|
SMART Domains |
Protein: ENSMUSP00000143420 Gene: ENSMUSG00000005583
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: ENSMUST00000198217
AA Change: I334T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142487 Gene: ENSMUSG00000005583 AA Change: I334T
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: ENSMUST00000199019
AA Change: I390T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143401 Gene: ENSMUSG00000005583 AA Change: I390T
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: I390T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143212 Gene: ENSMUSG00000005583 AA Change: I390T
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: ENSMUST00000199450
AA Change: I382T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143315 Gene: ENSMUSG00000005583 AA Change: I382T
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 |
probably benign
Transcript: ENSMUST00000197722
|
SMART Domains |
Protein: ENSMUSP00000142456 Gene: ENSMUSG00000005583
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 benign
Transcript: ENSMUST00000199432
|
SMART Domains |
Protein: ENSMUSP00000142714 Gene: ENSMUSG00000005583
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 benign
Transcript: ENSMUST00000200138
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198199
|
SMART Domains |
Protein: ENSMUSP00000143742 Gene: ENSMUSG00000005583
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: ENSMUST00000199210
|
SMART Domains |
Protein: ENSMUSP00000142595 Gene: ENSMUSG00000005583
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 |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432M17Rik |
A |
C |
3: 121,473,251 (GRCm39) |
R135S |
unknown |
Het |
A1bg |
T |
C |
15: 60,791,605 (GRCm39) |
Y277C |
probably damaging |
Het |
Abca12 |
A |
T |
1: 71,385,861 (GRCm39) |
F252L |
probably benign |
Het |
Abcd3 |
A |
T |
3: 121,575,640 (GRCm39) |
|
probably benign |
Het |
Acvr2b |
C |
A |
9: 119,260,350 (GRCm39) |
F364L |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,345,650 (GRCm39) |
C1564R |
probably damaging |
Het |
Agap3 |
A |
G |
5: 24,682,130 (GRCm39) |
T392A |
probably benign |
Het |
Ano1 |
A |
G |
7: 144,157,322 (GRCm39) |
F767L |
possibly damaging |
Het |
Atg10 |
C |
A |
13: 91,085,412 (GRCm39) |
R179I |
probably null |
Het |
Bsph1 |
A |
T |
7: 13,207,012 (GRCm39) |
K129N |
probably damaging |
Het |
Calml4 |
A |
G |
9: 62,782,765 (GRCm39) |
D77G |
probably benign |
Het |
Cc2d1a |
T |
A |
8: 84,870,056 (GRCm39) |
K153M |
probably damaging |
Het |
Col4a2 |
G |
A |
8: 11,475,979 (GRCm39) |
V672I |
probably benign |
Het |
Crnkl1 |
T |
C |
2: 145,774,178 (GRCm39) |
K95R |
probably benign |
Het |
Crtap |
T |
C |
9: 114,209,072 (GRCm39) |
D324G |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 16,138,231 (GRCm39) |
G1607E |
probably damaging |
Het |
Dcbld2 |
T |
G |
16: 58,272,051 (GRCm39) |
I369R |
probably benign |
Het |
Dmc1 |
T |
A |
15: 79,452,892 (GRCm39) |
I246L |
probably benign |
Het |
Dock1 |
G |
T |
7: 134,475,912 (GRCm39) |
V896L |
possibly damaging |
Het |
Eftud2 |
G |
A |
11: 102,761,009 (GRCm39) |
T112M |
probably damaging |
Het |
F5 |
A |
T |
1: 163,989,388 (GRCm39) |
I97F |
possibly damaging |
Het |
Fasn |
C |
T |
11: 120,701,550 (GRCm39) |
V1939M |
possibly damaging |
Het |
Gpatch2l |
T |
C |
12: 86,328,285 (GRCm39) |
V414A |
probably benign |
Het |
Gpd2 |
T |
C |
2: 57,228,855 (GRCm39) |
|
probably benign |
Het |
Gria4 |
T |
G |
9: 4,432,876 (GRCm39) |
N769T |
probably damaging |
Het |
Gtf3c2 |
A |
T |
5: 31,314,964 (GRCm39) |
F885I |
probably damaging |
Het |
Ifi209 |
C |
T |
1: 173,468,800 (GRCm39) |
T210I |
possibly damaging |
Het |
Kmt2c |
A |
G |
5: 25,520,359 (GRCm39) |
V1917A |
probably benign |
Het |
Mad1l1 |
G |
A |
5: 140,293,458 (GRCm39) |
A120V |
probably benign |
Het |
Ms4a14 |
A |
T |
19: 11,285,056 (GRCm39) |
L171I |
probably benign |
Het |
Myf6 |
T |
A |
10: 107,330,132 (GRCm39) |
Q145L |
probably damaging |
Het |
Myh3 |
G |
A |
11: 66,981,935 (GRCm39) |
|
probably benign |
Het |
Nbas |
A |
G |
12: 13,329,417 (GRCm39) |
I121V |
probably benign |
Het |
Ncoa2 |
A |
T |
1: 13,247,398 (GRCm39) |
S342T |
probably damaging |
Het |
Nlrp1b |
C |
T |
11: 71,052,741 (GRCm39) |
D896N |
possibly damaging |
Het |
Prss41 |
A |
G |
17: 24,061,498 (GRCm39) |
Y98H |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,665,425 (GRCm39) |
T450S |
probably benign |
Het |
Rab39 |
G |
A |
9: 53,597,861 (GRCm39) |
R135C |
probably damaging |
Het |
Radil |
A |
G |
5: 142,481,097 (GRCm39) |
V570A |
probably damaging |
Het |
Sbno1 |
C |
T |
5: 124,526,668 (GRCm39) |
R949Q |
probably damaging |
Het |
Sec61a2 |
T |
A |
2: 5,887,689 (GRCm39) |
K98* |
probably null |
Het |
Serbp1 |
T |
A |
6: 67,258,807 (GRCm39) |
|
probably null |
Het |
Serpinb3c |
G |
T |
1: 107,199,457 (GRCm39) |
Q355K |
probably benign |
Het |
Slc34a3 |
T |
G |
2: 25,121,246 (GRCm39) |
D307A |
probably benign |
Het |
Smarcad1 |
T |
A |
6: 65,051,937 (GRCm39) |
S357T |
probably damaging |
Het |
Spag17 |
G |
A |
3: 99,918,075 (GRCm39) |
D353N |
possibly damaging |
Het |
Spdl1 |
T |
A |
11: 34,721,592 (GRCm39) |
Q39L |
possibly damaging |
Het |
Syne2 |
A |
C |
12: 76,104,264 (GRCm39) |
Q5485P |
probably damaging |
Het |
Synj1 |
C |
A |
16: 90,785,056 (GRCm39) |
V227F |
probably damaging |
Het |
Syt12 |
T |
C |
19: 4,506,882 (GRCm39) |
T88A |
probably benign |
Het |
Tasor |
C |
T |
14: 27,183,136 (GRCm39) |
Q532* |
probably null |
Het |
Tlr12 |
A |
G |
4: 128,509,670 (GRCm39) |
F860S |
probably damaging |
Het |
Trdn |
C |
A |
10: 33,274,410 (GRCm39) |
S461* |
probably null |
Het |
Trip4 |
G |
A |
9: 65,764,727 (GRCm39) |
P413S |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,149,302 (GRCm39) |
|
probably null |
Het |
Wnt9a |
T |
C |
11: 59,221,855 (GRCm39) |
L251P |
probably damaging |
Het |
Xrcc1 |
A |
T |
7: 24,272,719 (GRCm39) |
K618* |
probably null |
Het |
Zfp759 |
T |
C |
13: 67,286,728 (GRCm39) |
L93P |
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 |
IGL01012:Mef2c
|
APN |
13 |
83,803,714 (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 |
2016-08-02 |