Incidental Mutation 'R1023:Mef2b'
| ID |
94632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mef2b
|
| Ensembl Gene |
ENSMUSG00000079033 |
| Gene Name |
myocyte enhancer factor 2B |
| Synonyms |
|
| MMRRC Submission |
039125-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1023 (G1)
|
| Quality Score |
162 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70605411-70620138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70618247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 109
(P109L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110140]
[ENSMUST00000110141]
[ENSMUST00000110143]
[ENSMUST00000110146]
[ENSMUST00000163756]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110140
AA Change: P109L
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105767
Gene: ENSMUSG00000079033
AA Change: P109L
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.15e-34 |
SMART |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110141
AA Change: P109L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105768
Gene: ENSMUSG00000079033
AA Change: P109L
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.15e-34 |
SMART |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110143
AA Change: P109L
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105770
Gene: ENSMUSG00000079033
AA Change: P109L
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.15e-34 |
SMART |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110146
AA Change: P109L
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105773
Gene: ENSMUSG00000079033
AA Change: P109L
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.15e-34 |
SMART |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163756
AA Change: P109L
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033
AA Change: P109L
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
3.15e-34 |
SMART |
|
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
335 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0924 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on GeneID 4207. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,772,632 (GRCm39) |
A607V |
probably damaging |
Het |
| 4930523C07Rik |
A |
G |
1: 159,905,057 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,550,092 (GRCm39) |
L713Q |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,957,676 (GRCm39) |
T1010A |
possibly damaging |
Het |
| Cdh15 |
T |
C |
8: 123,591,939 (GRCm39) |
I608T |
probably damaging |
Het |
| Cdkl2 |
A |
T |
5: 92,187,145 (GRCm39) |
D40E |
possibly damaging |
Het |
| Col9a2 |
G |
A |
4: 120,901,207 (GRCm39) |
G118R |
unknown |
Het |
| Cryge |
C |
A |
1: 65,089,945 (GRCm39) |
C79F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,878,799 (GRCm39) |
L596P |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,196,277 (GRCm39) |
E490G |
probably damaging |
Het |
| Enam |
A |
G |
5: 88,649,826 (GRCm39) |
Q445R |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
T |
8: 125,597,519 (GRCm39) |
D27V |
probably benign |
Het |
| Htr5a |
A |
T |
5: 28,047,996 (GRCm39) |
T184S |
possibly damaging |
Het |
| Lap3 |
C |
T |
5: 45,652,553 (GRCm39) |
P50S |
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,288,271 (GRCm39) |
M589K |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,703,778 (GRCm39) |
F168L |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,211,641 (GRCm39) |
F1661I |
probably damaging |
Het |
| Or11h4b |
A |
T |
14: 50,918,473 (GRCm39) |
L206H |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 58,856,178 (GRCm39) |
N307K |
probably benign |
Het |
| Plac8 |
A |
T |
5: 100,704,447 (GRCm39) |
D83E |
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,091,328 (GRCm39) |
|
probably benign |
Het |
| Pold2 |
G |
T |
11: 5,825,140 (GRCm39) |
Q86K |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,400,863 (GRCm39) |
L1057P |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,708,635 (GRCm39) |
H2284R |
probably damaging |
Het |
| Scart1 |
T |
A |
7: 139,804,376 (GRCm39) |
C484S |
possibly damaging |
Het |
| Skint6 |
A |
C |
4: 113,095,300 (GRCm39) |
S120A |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,864,770 (GRCm39) |
V270M |
probably damaging |
Het |
| Spata2 |
A |
G |
2: 167,327,142 (GRCm39) |
M85T |
probably benign |
Het |
| Taf1b |
G |
T |
12: 24,559,558 (GRCm39) |
|
probably benign |
Het |
| Tert |
A |
G |
13: 73,790,178 (GRCm39) |
N844S |
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,073,882 (GRCm39) |
S288L |
possibly damaging |
Het |
| Ubap2l |
A |
G |
3: 89,955,180 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
T |
C |
11: 102,202,276 (GRCm39) |
E197G |
possibly damaging |
Het |
| Usp20 |
G |
T |
2: 30,897,825 (GRCm39) |
G216W |
probably damaging |
Het |
| Yy1 |
T |
A |
12: 108,759,457 (GRCm39) |
V40E |
unknown |
Het |
| Zfp335 |
G |
A |
2: 164,734,505 (GRCm39) |
H1254Y |
possibly damaging |
Het |
|
| Other mutations in Mef2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4378001:Mef2b
|
UTSW |
8 |
70,616,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4091:Mef2b
|
UTSW |
8 |
70,617,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4162:Mef2b
|
UTSW |
8 |
70,618,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4562:Mef2b
|
UTSW |
8 |
70,619,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4950:Mef2b
|
UTSW |
8 |
70,619,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Mef2b
|
UTSW |
8 |
70,619,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5752:Mef2b
|
UTSW |
8 |
70,618,267 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6126:Mef2b
|
UTSW |
8 |
70,619,526 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6279:Mef2b
|
UTSW |
8 |
70,619,769 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6300:Mef2b
|
UTSW |
8 |
70,619,769 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6332:Mef2b
|
UTSW |
8 |
70,616,789 (GRCm39) |
splice site |
probably null |
|
|
R6369:Mef2b
|
UTSW |
8 |
70,618,209 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6873:Mef2b
|
UTSW |
8 |
70,618,957 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7266:Mef2b
|
UTSW |
8 |
70,616,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9638:Mef2b
|
UTSW |
8 |
70,619,506 (GRCm39) |
frame shift |
probably null |
|
|
X0022:Mef2b
|
UTSW |
8 |
70,619,484 (GRCm39) |
missense |
probably benign |
0.41 |
|
Z1176:Mef2b
|
UTSW |
8 |
70,619,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTTGAACTTCAGGGGAACTCAC -3'
(R):5'- ATCCAGGACAAGACTGGCTTCCAC -3'
Sequencing Primer
(F):5'- GAACTCACAGTGGTTTTAGTCC -3'
(R):5'- AGACTGGCTTCCACGAAGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation