Incidental Mutation 'IGL02416:Mef2d'
| ID |
292455 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mef2d
|
| Ensembl Gene |
ENSMUSG00000001419 |
| Gene Name |
myocyte enhancer factor 2D |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
IGL02416
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
88049679-88079393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88063809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 79
(R79C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001455]
[ENSMUST00000107558]
[ENSMUST00000107559]
[ENSMUST00000119251]
|
| AlphaFold |
Q63943 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001455
AA Change: R79C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001455
Gene: ENSMUSG00000001419
AA Change: R79C
| 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 damaging
Transcript: ENSMUST00000107558
AA Change: R79C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103183
Gene: ENSMUSG00000001419
AA Change: R79C
| 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 damaging
Transcript: ENSMUST00000107559
AA Change: R79C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103184
Gene: ENSMUSG00000001419
AA Change: R79C
| 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 damaging
Transcript: ENSMUST00000119251
AA Change: R79C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113638
Gene: ENSMUSG00000001419
AA Change: R79C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140927
|
| Coding Region Coverage |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
C |
14: 68,810,282 (GRCm39) |
N227S |
probably null |
Het |
| Adgrf5 |
T |
G |
17: 43,755,871 (GRCm39) |
|
probably null |
Het |
| Arid2 |
G |
A |
15: 96,247,936 (GRCm39) |
G116D |
possibly damaging |
Het |
| Arsa |
T |
A |
15: 89,358,991 (GRCm39) |
H225L |
probably damaging |
Het |
| Atf6 |
T |
A |
1: 170,574,726 (GRCm39) |
K571* |
probably null |
Het |
| Bicdl1 |
A |
C |
5: 115,801,944 (GRCm39) |
L38R |
probably damaging |
Het |
| Cct4 |
T |
C |
11: 22,952,868 (GRCm39) |
S515P |
probably damaging |
Het |
| Celsr3 |
A |
C |
9: 108,709,318 (GRCm39) |
D1388A |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,790,777 (GRCm39) |
T432A |
probably benign |
Het |
| Des |
T |
A |
1: 75,339,372 (GRCm39) |
|
probably null |
Het |
| Dock11 |
T |
A |
X: 35,283,739 (GRCm39) |
V1119E |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,169,896 (GRCm39) |
N1763S |
possibly damaging |
Het |
| Emilin1 |
A |
G |
5: 31,075,132 (GRCm39) |
S458G |
possibly damaging |
Het |
| Fhdc1 |
T |
G |
3: 84,352,535 (GRCm39) |
M897L |
probably benign |
Het |
| Foxj1 |
T |
C |
11: 116,222,829 (GRCm39) |
S325G |
probably benign |
Het |
| Gm5407 |
A |
G |
16: 49,117,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6576 |
T |
C |
15: 27,026,073 (GRCm39) |
|
noncoding transcript |
Het |
| Hells |
G |
A |
19: 38,953,071 (GRCm39) |
S743N |
probably benign |
Het |
| Ighv2-9-1 |
A |
T |
12: 113,733,731 (GRCm39) |
L30Q |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,375,786 (GRCm39) |
L1363H |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,299,977 (GRCm39) |
D3025G |
probably damaging |
Het |
| Mical1 |
G |
T |
10: 41,360,806 (GRCm39) |
|
probably null |
Het |
| Micu2 |
A |
T |
14: 58,161,422 (GRCm39) |
V300E |
probably damaging |
Het |
| Mmgt2 |
T |
C |
11: 62,555,703 (GRCm39) |
L17P |
probably damaging |
Het |
| Or4p21 |
A |
G |
2: 88,277,174 (GRCm39) |
I36T |
probably benign |
Het |
| Or7c19 |
T |
A |
8: 85,957,662 (GRCm39) |
C179* |
probably null |
Het |
| Or7e177 |
A |
T |
9: 20,211,541 (GRCm39) |
E15V |
probably benign |
Het |
| Pigb |
A |
G |
9: 72,924,714 (GRCm39) |
S482P |
probably benign |
Het |
| Pkd1l2 |
T |
A |
8: 117,767,574 (GRCm39) |
T1239S |
possibly damaging |
Het |
| Pou1f1 |
T |
C |
16: 65,328,842 (GRCm39) |
I187T |
probably damaging |
Het |
| Prox1 |
C |
T |
1: 189,893,327 (GRCm39) |
A373T |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,451,962 (GRCm39) |
I954T |
probably benign |
Het |
| Scube3 |
T |
G |
17: 28,383,110 (GRCm39) |
C429W |
probably damaging |
Het |
| Slco6b1 |
T |
A |
1: 96,852,058 (GRCm39) |
|
noncoding transcript |
Het |
| Strc |
A |
T |
2: 121,199,539 (GRCm39) |
I1300N |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,935,629 (GRCm39) |
R1806S |
probably benign |
Het |
| Trpm8 |
T |
A |
1: 88,288,438 (GRCm39) |
L860Q |
probably damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,605 (GRCm39) |
R219G |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,753,826 (GRCm39) |
S649G |
probably damaging |
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 |
|
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 |
|
|
R8776-TAIL: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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation