Incidental Mutation 'R8776-TAIL:Mef2d'
| ID |
668060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mef2d
|
| Ensembl Gene |
ENSMUSG00000001419 |
| Gene Name |
myocyte enhancer factor 2D |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
R8776-TAIL
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
88049679-88079393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88074956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 381
(S381P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001455]
[ENSMUST00000107558]
[ENSMUST00000107559]
[ENSMUST00000119251]
|
| AlphaFold |
Q63943 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001455
AA Change: S374P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001455
Gene: ENSMUSG00000001419
AA Change: S374P
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
1.54e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
155 |
1.6e-13 |
PFAM |
|
low complexity region
|
358 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107558
AA Change: S373P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103183
Gene: ENSMUSG00000001419
AA Change: S373P
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
1.54e-37 |
SMART |
|
Pfam:HJURP_C
|
89 |
153 |
4.1e-24 |
PFAM |
|
low complexity region
|
357 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107559
AA Change: S381P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103184
Gene: ENSMUSG00000001419
AA Change: S381P
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
1.54e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
154 |
1.4e-11 |
PFAM |
|
low complexity region
|
365 |
398 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119251
AA Change: S374P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113638
Gene: ENSMUSG00000001419
AA Change: S374P
| Domain | Start | End | E-Value | Type |
|---|
|
MADS
|
1 |
60 |
1.54e-37 |
SMART |
|
Pfam:HJURP_C
|
90 |
155 |
5.9e-14 |
PFAM |
|
low complexity region
|
358 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
477 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal synapse formation between retinal photoreceptor and bipolar cells, progressive photoreceptor degeneration, and severely impaired electroretinograms. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,245,002 (GRCm39) |
Y117H |
probably benign |
Het |
| a |
A |
G |
2: 154,892,612 (GRCm39) |
D97G |
probably damaging |
Het |
| Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
| Chst9 |
T |
A |
18: 15,586,086 (GRCm39) |
Y159F |
possibly damaging |
Het |
| Col26a1 |
G |
A |
5: 136,911,708 (GRCm39) |
R52C |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,263,701 (GRCm39) |
D3323V |
possibly damaging |
Het |
| Dqx1 |
T |
A |
6: 83,035,619 (GRCm39) |
I44N |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 106,613,992 (GRCm39) |
D415G |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,650,733 (GRCm39) |
D801V |
probably damaging |
Het |
| Fam13b |
G |
A |
18: 34,584,446 (GRCm39) |
R573C |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,798,002 (GRCm39) |
I415N |
possibly damaging |
Het |
| Gm32742 |
T |
A |
9: 51,067,230 (GRCm39) |
M366L |
probably benign |
Het |
| Gm49336 |
A |
T |
14: 60,457,515 (GRCm39) |
S563T |
possibly damaging |
Het |
| Gm5475 |
T |
C |
15: 100,324,892 (GRCm39) |
F107L |
unknown |
Het |
| Lamp3 |
T |
C |
16: 19,474,252 (GRCm39) |
D374G |
probably damaging |
Het |
| Lin9 |
T |
C |
1: 180,496,450 (GRCm39) |
|
probably null |
Het |
| Mfsd9 |
A |
G |
1: 40,812,915 (GRCm39) |
*467Q |
probably null |
Het |
| Mpo |
A |
G |
11: 87,693,538 (GRCm39) |
I639V |
possibly damaging |
Het |
| Mrgprh |
T |
C |
17: 13,096,375 (GRCm39) |
I205T |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,154,476 (GRCm39) |
D580G |
probably benign |
Het |
| Nkain4 |
T |
A |
2: 180,585,920 (GRCm39) |
I48F |
probably damaging |
Het |
| Notch4 |
C |
A |
17: 34,806,579 (GRCm39) |
R1839S |
probably damaging |
Het |
| Nr6a1 |
A |
G |
2: 38,650,244 (GRCm39) |
Y129H |
probably damaging |
Het |
| Or7g19 |
T |
A |
9: 18,856,286 (GRCm39) |
I114N |
possibly damaging |
Het |
| Robo1 |
G |
T |
16: 72,821,141 (GRCm39) |
E1294* |
probably null |
Het |
| Septin8 |
A |
G |
11: 53,428,343 (GRCm39) |
K331R |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,356,785 (GRCm39) |
|
probably null |
Het |
| Skint6 |
A |
C |
4: 112,661,885 (GRCm39) |
L1233R |
possibly damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,621,165 (GRCm39) |
T402S |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,781,889 (GRCm39) |
T373A |
probably damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,863,283 (GRCm39) |
C144R |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,181,783 (GRCm39) |
V4184A |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,544,239 (GRCm39) |
R2122H |
probably damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,532,316 (GRCm39) |
D38E |
probably benign |
Het |
| Tnnc2 |
C |
T |
2: 164,620,135 (GRCm39) |
A6T |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,356,320 (GRCm39) |
V1127A |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,077,195 (GRCm39) |
Y1307H |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,411,509 (GRCm39) |
S223G |
probably benign |
Het |
|
| Other mutations in Mef2d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01953:Mef2d
|
APN |
3 |
88,063,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02416:Mef2d
|
APN |
3 |
88,063,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Mef2d
|
UTSW |
3 |
88,063,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4194:Mef2d
|
UTSW |
3 |
88,065,610 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4816:Mef2d
|
UTSW |
3 |
88,075,397 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4964:Mef2d
|
UTSW |
3 |
88,075,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5837:Mef2d
|
UTSW |
3 |
88,069,088 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6238:Mef2d
|
UTSW |
3 |
88,066,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7227:Mef2d
|
UTSW |
3 |
88,065,514 (GRCm39) |
splice site |
probably null |
|
|
R7400:Mef2d
|
UTSW |
3 |
88,075,038 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8776:Mef2d
|
UTSW |
3 |
88,074,956 (GRCm39) |
missense |
probably benign |
|
|
R9046:Mef2d
|
UTSW |
3 |
88,074,825 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9176:Mef2d
|
UTSW |
3 |
88,066,463 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
RF022:Mef2d
|
UTSW |
3 |
88,075,574 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Mef2d
|
UTSW |
3 |
88,065,435 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
|
| Posted On |
2021-03-08 |
Incidental Mutation