Mutagenetix > Incidental Mutation

Incidental Mutation 'R4964:Mef2d'

383771

Institutional Source

Beutler Lab

Gene Symbol

Mef2d

Ensembl Gene

ENSMUSG00000001419

Gene Name

myocyte enhancer factor 2D

Synonyms

MMRRC Submission

042561-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R4964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88049679-88079393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88075404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 422 (I422N)

Ref Sequence

ENSEMBL: ENSMUSP00000001455 (fasta)

Gene Model

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

AlphaFold

Q63943

Predicted Effect

probably damaging
Transcript: ENSMUST00000001455
AA Change: I422N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001455
Gene: ENSMUSG00000001419
AA Change: I422N

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: I421N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103183
Gene: ENSMUSG00000001419
AA Change: I421N

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: I429N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103184
Gene: ENSMUSG00000001419
AA Change: I429N

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: I422N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113638
Gene: ENSMUSG00000001419
AA Change: I422N

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: ENSMUST00000139153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152861

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200006

Meta Mutation Damage Score

0.0798

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

98% (100/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abcb1b	A	T	5: 8,862,671 (GRCm39)	T118S	probably benign	Het
Abcb1b	T	A	5: 8,911,602 (GRCm39)	I133N	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Adam5	T	C	8: 25,276,248 (GRCm39)	Y473C	probably damaging	Het
Ankmy2	A	G	12: 36,236,917 (GRCm39)	K242E	possibly damaging	Het
Apc2	A	C	10: 80,149,841 (GRCm39)	I1603L	probably benign	Het
Arhgef25	T	A	10: 127,021,472 (GRCm39)	I249F	probably damaging	Het
Birc2	T	C	9: 7,860,553 (GRCm39)	H255R	probably benign	Het
Cables1	A	T	18: 12,074,334 (GRCm39)	R486W	possibly damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc175	A	G	12: 72,227,619 (GRCm39)	S55P	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Ccny	A	T	18: 9,449,516 (GRCm39)		probably null	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cul9	C	T	17: 46,849,451 (GRCm39)	D565N	probably damaging	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Cyb5rl	A	G	4: 106,926,329 (GRCm39)		probably benign	Het
Ddx18	T	C	1: 121,493,823 (GRCm39)	K54E	probably benign	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Eif2s1	T	A	12: 78,926,785 (GRCm39)	N178K	probably benign	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Galntl6	T	C	8: 59,152,945 (GRCm39)		probably benign	Het
Glipr1l2	T	A	10: 111,942,904 (GRCm39)	I253K	possibly damaging	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,217,305 (GRCm39)	I1398F	possibly damaging	Het
Ifnar1	T	C	16: 91,301,974 (GRCm39)	V483A	probably benign	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Krt7	C	T	15: 101,311,853 (GRCm39)	R104C	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Mterf2	T	A	10: 84,955,979 (GRCm39)	Q215L	probably damaging	Het
Mybpc1	T	A	10: 88,391,525 (GRCm39)	Y324F	probably benign	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo1g	A	T	11: 6,465,976 (GRCm39)	F370I	probably damaging	Het
Myo5c	T	A	9: 75,204,791 (GRCm39)	M1548K	possibly damaging	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nle1	A	G	11: 82,799,018 (GRCm39)	F21S	probably damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Or1e17	A	T	11: 73,832,028 (GRCm39)	I319F	probably benign	Het
Or2z2	A	G	11: 58,346,733 (GRCm39)	V14A	probably benign	Het
Orc1	T	C	4: 108,471,670 (GRCm39)	*841R	probably null	Het
Patz1	A	G	11: 3,257,720 (GRCm39)	D573G	probably damaging	Het
Pcdhga3	A	G	18: 37,809,154 (GRCm39)	T536A	probably benign	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf122	T	A	8: 31,602,177 (GRCm39)	M1K	probably null	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3m	T	C	12: 104,355,360 (GRCm39)	I9T	probably benign	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sf3b1	T	C	1: 55,038,871 (GRCm39)	N804S	probably benign	Het
Shroom1	A	G	11: 53,355,999 (GRCm39)	T350A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Slc38a8	A	T	8: 120,209,423 (GRCm39)		probably null	Het
Smarcd1	A	G	15: 99,605,862 (GRCm39)	S378G	possibly damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Sult2a8	A	G	7: 14,159,457 (GRCm39)	V54A	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tmco6	T	C	18: 36,868,555 (GRCm39)		probably null	Het
Treh	T	C	9: 44,593,945 (GRCm39)	L144P	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vps35l	T	C	7: 118,379,491 (GRCm39)	I426T	possibly damaging	Het
Xbp1	A	G	11: 5,471,125 (GRCm39)	E44G	probably damaging	Het
Zfp451	A	T	1: 33,816,942 (GRCm39)	V119D	probably damaging	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	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
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

Predicted Primers

PCR Primer
(F):5'- GGACAGACTGCAGCTAACACTC -3'
(R):5'- ATCCTCTTCACAGCTGAGCC -3'

Sequencing Primer
(F):5'- GACTGCAGCTAACACTCATTTC -3'
(R):5'- TGAGCCCTCAGCCTCAG -3'

Posted On

2016-04-27