Mutagenetix > Incidental Mutation

Incidental Mutation 'R0499:Mef2d'

46996

Institutional Source

Beutler Lab

Gene Symbol

Mef2d

Ensembl Gene

ENSMUSG00000001419

Gene Name

myocyte enhancer factor 2D

Synonyms

MMRRC Submission

038695-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R0499 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

88049679-88079393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88063825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 84 (I84N)

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: I84N

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

SMART Domains

Protein: ENSMUSP00000001455
Gene: ENSMUSG00000001419
AA Change: I84N

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: I84N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103183
Gene: ENSMUSG00000001419
AA Change: I84N

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: I84N

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

SMART Domains

Protein: ENSMUSP00000103184
Gene: ENSMUSG00000001419
AA Change: I84N

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: I84N

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

SMART Domains

Protein: ENSMUSP00000113638
Gene: ENSMUSG00000001419
AA Change: I84N

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

Meta Mutation Damage Score

0.8416

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adap2	A	T	11: 80,066,905 (GRCm39)	R276S	probably damaging	Het
Agbl3	A	T	6: 34,816,270 (GRCm39)	M727L	probably benign	Het
Ahnak	T	A	19: 8,977,628 (GRCm39)		probably benign	Het
Ankmy1	G	T	1: 92,813,948 (GRCm39)	D410E	probably damaging	Het
Ankra2	T	C	13: 98,402,962 (GRCm39)	S70P	probably damaging	Het
Aox4	T	C	1: 58,302,556 (GRCm39)		probably null	Het
Arl13b	G	A	16: 62,622,096 (GRCm39)	T399I	probably benign	Het
Atad2	A	T	15: 57,966,636 (GRCm39)	D652E	possibly damaging	Het
Atad2	T	G	15: 57,984,345 (GRCm39)	M328L	probably benign	Het
Ccnb1	T	C	13: 100,916,642 (GRCm39)		probably null	Het
Ccr2	G	C	9: 123,905,976 (GRCm39)	K85N	possibly damaging	Het
Ccr2	A	T	9: 123,906,163 (GRCm39)	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,192,484 (GRCm39)	V59A	probably benign	Het
Cdin1	C	T	2: 115,473,172 (GRCm39)	R101W	probably damaging	Het
Cdkl3	T	C	11: 51,923,243 (GRCm39)	S507P	possibly damaging	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1g	A	G	8: 94,060,317 (GRCm39)	F101L	probably benign	Het
Cimap1d	T	C	10: 79,476,099 (GRCm39)	D155G	probably damaging	Het
Cntnap3	C	T	13: 65,006,492 (GRCm39)	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Col27a1	A	G	4: 63,218,978 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Cstf3	A	G	2: 104,479,950 (GRCm39)	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,645,418 (GRCm39)	T150A	probably benign	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Dop1b	A	T	16: 93,567,325 (GRCm39)	T1251S	probably benign	Het
Dtx2	G	A	5: 136,057,957 (GRCm39)	G421R	probably damaging	Het
Epb41l3	T	A	17: 69,554,654 (GRCm39)	D251E	probably benign	Het
Erg	A	C	16: 95,161,842 (GRCm39)	Y305*	probably null	Het
Exosc4	G	A	15: 76,213,766 (GRCm39)	A197T	probably benign	Het
Fam227b	T	A	2: 125,942,829 (GRCm39)	I323L	probably benign	Het
Far1	G	T	7: 113,153,503 (GRCm39)		probably benign	Het
Fmod	A	G	1: 133,968,934 (GRCm39)	I325V	possibly damaging	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm4076	G	T	13: 85,275,345 (GRCm39)		noncoding transcript	Het
Gm5134	A	T	10: 75,828,359 (GRCm39)	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,644,179 (GRCm39)	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,161,954 (GRCm39)	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121 (GRCm39)	L268P	probably damaging	Het
Herc2	C	A	7: 55,834,117 (GRCm39)	C3107*	probably null	Het
Herc4	T	C	10: 63,099,811 (GRCm39)	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,920 (GRCm39)	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,056,419 (GRCm39)		probably null	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Il1r2	T	A	1: 40,162,309 (GRCm39)	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097 (GRCm39)	V190L	probably benign	Het
Ipo11	T	C	13: 107,061,595 (GRCm39)	T22A	probably benign	Het
Itgb4	C	A	11: 115,870,521 (GRCm39)	R117S	probably benign	Het
Lcorl	C	G	5: 45,891,711 (GRCm39)	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,289,019 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,791,298 (GRCm39)	L54I	probably damaging	Het
Mcm9	T	C	10: 53,414,250 (GRCm39)	T1015A	probably benign	Het
Mmrn2	A	G	14: 34,119,913 (GRCm39)	N261S	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,103,143 (GRCm39)	Y160N	probably damaging	Het
Muc6	T	C	7: 141,226,735 (GRCm39)	T1431A	probably benign	Het
Nek9	A	T	12: 85,348,657 (GRCm39)	M959K	probably benign	Het
Or2ak6	G	A	11: 58,593,069 (GRCm39)	V181I	probably benign	Het
Or4f58	A	T	2: 111,851,777 (GRCm39)	C141S	probably damaging	Het
Or8b47	A	T	9: 38,435,801 (GRCm39)	M258L	probably benign	Het
Otog	G	T	7: 45,923,256 (GRCm39)	G1044W	probably damaging	Het
Pcdh9	G	A	14: 94,123,671 (GRCm39)	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,434,958 (GRCm39)	K111R	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,887,971 (GRCm39)	V355A	probably damaging	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Psd	T	C	19: 46,310,600 (GRCm39)	E483G	probably damaging	Het
Ptch2	T	A	4: 116,968,340 (GRCm39)	L905*	probably null	Het
Rxfp2	T	A	5: 149,989,880 (GRCm39)	N420K	probably damaging	Het
Scpppq1	C	A	5: 104,222,747 (GRCm39)	G24*	probably null	Het
Sde2	T	A	1: 180,689,992 (GRCm39)	D237E	probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Shc3	C	T	13: 51,634,264 (GRCm39)		probably benign	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Slc23a2	A	G	2: 131,913,937 (GRCm39)	L280P	probably damaging	Het
Smchd1	G	T	17: 71,694,083 (GRCm39)	Q1221K	probably benign	Het
Spmip2	T	A	3: 79,313,093 (GRCm39)	W56R	probably damaging	Het
Spocd1	A	G	4: 129,849,263 (GRCm39)	N694S	possibly damaging	Het
Styxl2	C	A	1: 165,926,670 (GRCm39)	V981L	probably benign	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,880,754 (GRCm39)	V172D	probably damaging	Het
Trpm3	T	C	19: 22,964,237 (GRCm39)	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,417,708 (GRCm39)	N478S	probably benign	Het
Usp36	A	G	11: 118,164,397 (GRCm39)	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,955,494 (GRCm39)	Q265L	probably damaging	Het
Vwf	A	T	6: 125,615,077 (GRCm39)	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,389,550 (GRCm39)	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,882,817 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGACGTGTGGCCTCCTTTCTTG -3'
(R):5'- TCCTCAGACTGGCAGATCACAGAC -3'

Sequencing Primer
(F):5'- ATTTCCATCAACCGTGGCTAGG -3'
(R):5'- CAGACTGCCTAAATTAAGCTGAG -3'

Posted On

2013-06-12