Mutagenetix > Incidental Mutation

Incidental Mutation 'R7227:Mef2d'

574619

Institutional Source

Beutler Lab

Gene Symbol

Mef2d

Ensembl Gene

ENSMUSG00000001419

Gene Name

myocyte enhancer factor 2D

Synonyms

MMRRC Submission

045299-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R7227 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88049679-88079393 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 88065514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001455] [ENSMUST00000107558] [ENSMUST00000107558] [ENSMUST00000107559] [ENSMUST00000119251]

AlphaFold

Q63943

Predicted Effect

probably benign
Transcript: ENSMUST00000001455

SMART Domains

Protein: ENSMUSP00000001455
Gene: ENSMUSG00000001419

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 null
Transcript: ENSMUST00000107558

SMART Domains

Protein: ENSMUSP00000103183
Gene: ENSMUSG00000001419

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 null
Transcript: ENSMUST00000107558

SMART Domains

Protein: ENSMUSP00000103183
Gene: ENSMUSG00000001419

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

SMART Domains

Protein: ENSMUSP00000103184
Gene: ENSMUSG00000001419

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

SMART Domains

Protein: ENSMUSP00000113638
Gene: ENSMUSG00000001419

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

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (57/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,952,449 (GRCm39)	L344H	probably damaging	Het
Abcb1b	T	A	5: 8,875,593 (GRCm39)	S589T	probably damaging	Het
Acsm2	A	C	7: 119,190,556 (GRCm39)	I520L	probably benign	Het
Ap2a2	T	C	7: 141,200,784 (GRCm39)	Y544H	probably damaging	Het
Ascc1	T	A	10: 59,843,560 (GRCm39)	Y41N	probably benign	Het
Bend3	T	A	10: 43,387,401 (GRCm39)	L598Q	probably damaging	Het
Cfap74	T	G	4: 155,545,405 (GRCm39)	Y1108*	probably null	Het
Cxcl17	C	A	7: 25,102,319 (GRCm39)	R41S	probably damaging	Het
Cyp2c69	C	A	19: 39,869,610 (GRCm39)	M136I	possibly damaging	Het
Dnah2	A	G	11: 69,312,222 (GRCm39)	Y4370H	probably damaging	Het
Dzip3	T	A	16: 48,771,932 (GRCm39)	Q579L	probably damaging	Het
Enpp3	C	T	10: 24,693,742 (GRCm39)	M195I	unknown	Het
Esyt2	A	G	12: 116,305,745 (GRCm39)	D325G	probably damaging	Het
Fat1	T	G	8: 45,463,646 (GRCm39)	I1396S	probably benign	Het
Gigyf1	T	A	5: 137,522,085 (GRCm39)	I661K	unknown	Het
Gja1	T	A	10: 56,263,752 (GRCm39)	L37Q	probably damaging	Het
Hivep1	T	C	13: 42,310,387 (GRCm39)	S876P	probably benign	Het
Hk3	C	T	13: 55,160,053 (GRCm39)	R362H	probably benign	Het
Ier3ip1	T	A	18: 77,027,330 (GRCm39)	M53K	probably benign	Het
Klhl5	T	C	5: 65,298,631 (GRCm39)	S137P	probably benign	Het
Kremen2	G	T	17: 23,963,573 (GRCm39)	Y70*	probably null	Het
Lag3	C	T	6: 124,885,457 (GRCm39)	G308S	possibly damaging	Het
Mab21l4	G	T	1: 93,079,736 (GRCm39)	N451K	probably benign	Het
Map4k2	T	A	19: 6,396,624 (GRCm39)	L542Q	probably damaging	Het
Mkrn3	C	A	7: 62,069,415 (GRCm39)	R125S	probably benign	Het
Mpp3	T	A	11: 101,895,904 (GRCm39)	Y457F	possibly damaging	Het
Mrpl12	T	A	11: 120,379,178 (GRCm39)	I175N	probably damaging	Het
Mybbp1a	G	T	11: 72,338,585 (GRCm39)	K728N	possibly damaging	Het
Nfkb1	C	T	3: 135,332,420 (GRCm39)	V112M	probably damaging	Het
Nucb2	A	T	7: 116,125,311 (GRCm39)	D123V	probably damaging	Het
Or12j2	A	G	7: 139,915,534 (GRCm39)		probably benign	Het
Orc3	T	C	4: 34,572,542 (GRCm39)	T629A	probably benign	Het
Pdk1	T	A	2: 71,714,245 (GRCm39)	N218K	possibly damaging	Het
Plce1	A	G	19: 38,715,346 (GRCm39)	T1298A	probably benign	Het
Ppan	T	A	9: 20,799,496 (GRCm39)		probably benign	Het
Rap1gds1	C	T	3: 138,663,228 (GRCm39)	G373R	probably damaging	Het
Scn2a	A	C	2: 65,582,367 (GRCm39)	I1572L	probably damaging	Het
Sec16a	A	T	2: 26,328,935 (GRCm39)	Y1027N	probably benign	Het
Serpinb3a	T	A	1: 106,979,359 (GRCm39)	T48S	probably damaging	Het
Slc30a8	A	G	15: 52,195,032 (GRCm39)	M264V	probably benign	Het
Slc44a3	A	T	3: 121,303,879 (GRCm39)	C286S	possibly damaging	Het
Slc8a2	T	C	7: 15,878,906 (GRCm39)	I464T	possibly damaging	Het
Smco1	T	C	16: 32,092,833 (GRCm39)	M168T	possibly damaging	Het
Spns2	A	T	11: 72,349,513 (GRCm39)	Y246*	probably null	Het
Ssbp2	T	C	13: 91,823,244 (GRCm39)	M213T	probably benign	Het
Stk40	G	T	4: 126,017,559 (GRCm39)	A29S	probably benign	Het
Thrap3	A	T	4: 126,067,296 (GRCm39)	F683I	probably damaging	Het
Tmc5	A	G	7: 118,269,889 (GRCm39)	T880A	possibly damaging	Het
Trim38	T	A	13: 23,969,946 (GRCm39)	N168K	possibly damaging	Het
Ube2d1	T	A	10: 71,091,702 (GRCm39)	Y134F	possibly damaging	Het
Vmn1r67	T	A	7: 10,181,475 (GRCm39)	Y246*	probably null	Het
Vmn2r18	T	C	5: 151,496,264 (GRCm39)	T485A	probably damaging	Het
Wrn	T	A	8: 33,738,974 (GRCm39)	I1285F	probably damaging	Het
Xrcc1	C	A	7: 24,246,757 (GRCm39)	H8Q	probably damaging	Het
Zkscan4	T	C	13: 21,668,413 (GRCm39)	V317A	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
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

Predicted Primers

PCR Primer
(F):5'- CCTGAGGAAGAAGGGTTTCAAC -3'
(R):5'- TACATCCATCAGAGGCAGCC -3'

Sequencing Primer
(F):5'- AAGGGTTTCAACGGCTGTGAC -3'
(R):5'- GCTGAGTGAAGCCACACCATG -3'

Posted On

2019-09-23