Mutagenetix > Incidental Mutation

Incidental Mutation 'R6238:Mef2d'

505038

Institutional Source

Beutler Lab

Gene Symbol

Mef2d

Ensembl Gene

ENSMUSG00000001419

Gene Name

myocyte enhancer factor 2D

Synonyms

MMRRC Submission

044401-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R6238 (G1)

Quality Score

198.009

Status

Validated

Chromosome

Chromosomal Location

88049679-88079393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88066852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 205 (L205Q)

Ref Sequence

ENSEMBL: ENSMUSP00000103183 (fasta)

Gene Model

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

AlphaFold

Q63943

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001455
AA Change: L206Q

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001455
Gene: ENSMUSG00000001419
AA Change: L206Q

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: L205Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103183
Gene: ENSMUSG00000001419
AA Change: L205Q

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: L206Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103184
Gene: ENSMUSG00000001419
AA Change: L206Q

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: L206Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113638
Gene: ENSMUSG00000001419
AA Change: L206Q

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: ENSMUST00000140927

Meta Mutation Damage Score

0.1168

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	C	10: 76,285,096 (GRCm39)	T2P	possibly damaging	Het
2610042L04Rik	A	G	14: 4,348,962 (GRCm38)	N41S	probably damaging	Het
4933402N03Rik	T	C	7: 130,747,863 (GRCm39)	D43G	probably benign	Het
Adcy10	C	A	1: 165,403,297 (GRCm39)	Y1598*	probably null	Het
Adgrv1	G	A	13: 81,614,402 (GRCm39)	T3997M	probably benign	Het
Amfr	A	C	8: 94,726,992 (GRCm39)	F74V	probably damaging	Het
Ankrd13a	T	C	5: 114,924,787 (GRCm39)	Y91H	probably benign	Het
Baiap3	A	G	17: 25,464,732 (GRCm39)	S767P	probably benign	Het
Car12	C	T	9: 66,661,008 (GRCm39)	T124I	probably damaging	Het
Casp9	G	T	4: 141,534,448 (GRCm39)	G286V	probably damaging	Het
Cc2d2a	T	A	5: 43,828,577 (GRCm39)	D18E	probably benign	Het
Cdc27	T	C	11: 104,419,270 (GRCm39)	N221D	probably damaging	Het
Cebpz	A	G	17: 79,244,339 (GRCm39)	S41P	possibly damaging	Het
Cenpo	T	A	12: 4,281,968 (GRCm39)	S10C	possibly damaging	Het
Chid1	A	G	7: 141,076,049 (GRCm39)	V368A	probably benign	Het
Clca3a1	C	A	3: 144,714,716 (GRCm39)	V634L	probably benign	Het
Cmtr1	A	G	17: 29,901,122 (GRCm39)	D683G	probably damaging	Het
Cpsf3	G	T	12: 21,350,163 (GRCm39)	R294L	probably damaging	Het
Ddrgk1	G	A	2: 130,496,599 (GRCm39)	T255M	possibly damaging	Het
Dennd6a	T	A	14: 26,337,813 (GRCm39)		probably null	Het
Dnah10	A	G	5: 124,820,743 (GRCm39)	R526G	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Efcab10	T	C	12: 33,448,433 (GRCm39)	Y89H	probably damaging	Het
Etl4	T	A	2: 20,806,379 (GRCm39)	D1200E	probably damaging	Het
Fbn1	T	A	2: 125,166,865 (GRCm39)	D2017V	probably damaging	Het
Ftmt	G	A	18: 52,465,307 (GRCm39)	V208M	probably damaging	Het
Fzd10	T	C	5: 128,679,995 (GRCm39)	Y572H	probably damaging	Het
Gcc1	T	C	6: 28,420,742 (GRCm39)	K39E	probably damaging	Het
Hydin	A	G	8: 111,118,743 (GRCm39)		probably null	Het
Lif	A	G	11: 4,218,940 (GRCm39)	E73G	possibly damaging	Het
Lrtm1	C	A	14: 28,749,628 (GRCm39)	Q357K	probably benign	Het
Naalad2	T	A	9: 18,296,361 (GRCm39)	E96D	probably damaging	Het
Nbas	T	C	12: 13,532,596 (GRCm39)	I1768T	probably benign	Het
Nodal	T	C	10: 61,259,258 (GRCm39)	S232P	probably damaging	Het
Or52ab7	A	T	7: 102,978,115 (GRCm39)	I141F	possibly damaging	Het
Or8b12c	A	G	9: 37,715,317 (GRCm39)	T37A	probably benign	Het
Parl	G	A	16: 20,120,963 (GRCm39)	R39C	possibly damaging	Het
Pcdha9	G	A	18: 37,132,028 (GRCm39)	V366I	probably benign	Het
Pdzd8	A	G	19: 59,288,994 (GRCm39)	V802A	probably benign	Het
Plcl2	T	C	17: 50,913,873 (GRCm39)	V294A	probably damaging	Het
Plxna2	T	A	1: 194,472,504 (GRCm39)	S1083T	probably benign	Het
Polr2a	G	T	11: 69,638,047 (GRCm39)	L141I	possibly damaging	Het
Ptpre	C	A	7: 135,272,909 (GRCm39)	R468S	probably damaging	Het
Raet1e	T	A	10: 22,056,770 (GRCm39)	N115K	probably benign	Het
Rfx8	C	A	1: 39,709,554 (GRCm39)	S491I	probably damaging	Het
Rpe	T	A	1: 66,740,807 (GRCm39)	L48*	probably null	Het
Skint5	A	T	4: 113,800,064 (GRCm39)		probably null	Het
Spata24	C	A	18: 35,793,389 (GRCm39)	S111I	possibly damaging	Het
Suz12	G	C	11: 79,893,006 (GRCm39)		probably benign	Het
Taf4	T	A	2: 179,573,832 (GRCm39)	I679F	probably damaging	Het
Tlr1	G	T	5: 65,084,472 (GRCm39)	P35Q	possibly damaging	Het
Tonsl	T	C	15: 76,520,418 (GRCm39)		probably null	Het
Tsen54	G	A	11: 115,711,513 (GRCm39)	R310H	probably benign	Het
Ttc7b	A	G	12: 100,461,681 (GRCm39)	S99P	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uhmk1	T	A	1: 170,027,563 (GRCm39)	N378I	probably damaging	Het
Vmn2r107	A	G	17: 20,565,849 (GRCm39)	T55A	probably benign	Het
Vmn2r74	C	T	7: 85,601,280 (GRCm39)	C786Y	probably damaging	Het
Wdr20rt	C	T	12: 65,272,964 (GRCm39)		probably benign	Het
Zfand2a	T	A	5: 139,467,746 (GRCm39)	H42L	probably damaging	Het
Zfp990	T	A	4: 145,264,483 (GRCm39)	C494S	probably damaging	Het
Zkscan4	A	T	13: 21,668,757 (GRCm39)	R403W	possibly 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
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
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'- AGTGTTTCTCCAGGCTTGCC -3'
(R):5'- GTCCTGATCCCAACAAGATGC -3'

Sequencing Primer
(F):5'- AGTCCCTGAGGTCAGAGTG -3'
(R):5'- GCTCAGGCCCTGTTATTT -3'

Posted On

2018-02-28