Mutagenetix > Incidental Mutation

Incidental Mutation 'R4950:Mef2b'

381919

Institutional Source

Beutler Lab

Gene Symbol

Mef2b

Ensembl Gene

ENSMUSG00000079033

Gene Name

myocyte enhancer factor 2B

Synonyms

MMRRC Submission

042547-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70605411-70620138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70619846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 311 (Y311H)

Ref Sequence

ENSEMBL: ENSMUSP00000105770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110140] [ENSMUST00000110141] [ENSMUST00000110143] [ENSMUST00000110146] [ENSMUST00000163756]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110140

SMART Domains

Protein: ENSMUSP00000105767
Gene: ENSMUSG00000079033

Domain	Start	End	E-Value	Type
MADS	1	60	3.15e-34	SMART
low complexity region	97	114	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110141

SMART Domains

Protein: ENSMUSP00000105768
Gene: ENSMUSG00000079033

Domain	Start	End	E-Value	Type
MADS	1	60	3.15e-34	SMART
low complexity region	97	114	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110143
AA Change: Y311H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105770
Gene: ENSMUSG00000079033
AA Change: Y311H

Domain	Start	End	E-Value	Type
MADS	1	60	3.15e-34	SMART
low complexity region	97	114	N/A	INTRINSIC
low complexity region	275	287	N/A	INTRINSIC
low complexity region	310	325	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110146
AA Change: Y321H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105773
Gene: ENSMUSG00000079033
AA Change: Y321H

Domain	Start	End	E-Value	Type
MADS	1	60	3.15e-34	SMART
low complexity region	97	114	N/A	INTRINSIC
low complexity region	285	297	N/A	INTRINSIC
low complexity region	320	335	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163756
AA Change: Y321H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033
AA Change: Y321H

Domain	Start	End	E-Value	Type
MADS	1	60	3.15e-34	SMART
low complexity region	97	114	N/A	INTRINSIC
low complexity region	285	297	N/A	INTRINSIC
low complexity region	320	335	N/A	INTRINSIC

Meta Mutation Damage Score

0.0603

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on GeneID 4207. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifb9b	A	T	2: 154,153,579 (GRCm39)	D215V	probably damaging	Het
Cacna1i	A	G	15: 80,252,872 (GRCm39)	E625G	probably damaging	Het
Cage1	C	T	13: 38,207,302 (GRCm39)	S181N	possibly damaging	Het
Ccdc73	A	C	2: 104,822,711 (GRCm39)	I887L	probably benign	Het
Cfap65	T	A	1: 74,945,495 (GRCm39)	K1408*	probably null	Het
Cngb1	C	A	8: 95,975,135 (GRCm39)	G654W	probably damaging	Het
Cxcl15	A	T	5: 90,943,104 (GRCm39)	E35D	possibly damaging	Het
Ddi1	A	G	9: 6,266,073 (GRCm39)	S99P	probably benign	Het
Disp3	A	T	4: 148,342,583 (GRCm39)	D622E	possibly damaging	Het
Dnajc22	G	A	15: 98,999,615 (GRCm39)	V267I	probably benign	Het
Dph5	G	A	3: 115,722,292 (GRCm39)	G257S	probably benign	Het
Elmo2	A	T	2: 165,156,733 (GRCm39)		probably null	Het
Fam186a	T	C	15: 99,839,534 (GRCm39)	R2237G	unknown	Het
Fez1	G	A	9: 36,779,178 (GRCm39)	R285Q	probably damaging	Het
Fsip2	A	T	2: 82,777,276 (GRCm39)	H101L	probably damaging	Het
Fsip2	G	A	2: 82,807,758 (GRCm39)	C1359Y	probably benign	Het
Fxyd7	G	A	7: 30,746,815 (GRCm39)	T15I	probably benign	Het
Gpr155	A	T	2: 73,212,529 (GRCm39)	D31E	probably benign	Het
Iho1	A	C	9: 108,298,709 (GRCm39)	S36R	probably damaging	Het
Irx6	A	T	8: 93,405,428 (GRCm39)	Y432F	probably damaging	Het
Itih5	A	C	2: 10,239,892 (GRCm39)	I340L	probably damaging	Het
Lao1	T	C	4: 118,822,572 (GRCm39)	L164S	probably damaging	Het
Mcoln3	T	C	3: 145,845,274 (GRCm39)	I490T	probably damaging	Het
Mras	A	T	9: 99,276,537 (GRCm39)	L111Q	probably damaging	Het
Mrc1	A	G	2: 14,276,091 (GRCm39)	D475G	probably damaging	Het
Nrcam	T	C	12: 44,645,273 (GRCm39)	I1155T	probably damaging	Het
Ntrk1	A	G	3: 87,696,918 (GRCm39)		probably null	Het
Or7e165	G	A	9: 19,695,027 (GRCm39)	M199I	probably benign	Het
Or8b38	T	C	9: 37,973,297 (GRCm39)	I227T	probably damaging	Het
Parp9	A	T	16: 35,768,377 (GRCm39)	I186F	probably damaging	Het
Pcdhac2	T	A	18: 37,278,283 (GRCm39)	V421E	probably benign	Het
Pck1	T	A	2: 172,996,620 (GRCm39)	I178K	probably benign	Het
Pde6b	A	G	5: 108,578,569 (GRCm39)	K836E	probably benign	Het
Ptprd	T	A	4: 76,058,752 (GRCm39)		probably null	Het
Pwp2	A	G	10: 78,018,840 (GRCm39)	Y56H	probably benign	Het
Rarb	G	A	14: 16,432,085 (GRCm38)		probably benign	Het
Rpain	C	G	11: 70,861,747 (GRCm39)	H50Q	probably benign	Het
Rps9	CTGTTTG	CTG	7: 3,707,758 (GRCm39)		probably null	Het
Rubcn	A	T	16: 32,663,563 (GRCm39)	S358T	probably damaging	Het
Ryr2	G	A	13: 11,756,897 (GRCm39)	R1586C	probably damaging	Het
Slfn9	T	C	11: 82,872,730 (GRCm39)	I669V	probably benign	Het
Slx1b	T	C	7: 126,290,939 (GRCm39)		probably benign	Het
Spsb3	T	A	17: 25,106,485 (GRCm39)		probably benign	Het
Tbx15	A	G	3: 99,233,700 (GRCm39)	I288V	possibly damaging	Het
Tlr2	C	A	3: 83,744,639 (GRCm39)	E481D	probably damaging	Het
Trim17	A	T	11: 58,861,254 (GRCm39)	D253V	probably damaging	Het
Trim69	A	G	2: 122,009,227 (GRCm39)	D429G	probably damaging	Het
Vstm5	A	G	9: 15,169,090 (GRCm39)		probably null	Het
Vwa3b	A	G	1: 37,124,413 (GRCm39)	Q337R	probably benign	Het
Zfp113	T	C	5: 138,143,734 (GRCm39)	N172S	probably benign	Het
Zfp607a	T	A	7: 27,578,176 (GRCm39)	H415Q	probably damaging	Het
Zfp87	G	A	13: 67,666,018 (GRCm39)	T148I	probably benign	Het

Other mutations in Mef2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4378001:Mef2b	UTSW	8	70,616,910 (GRCm39)	missense	probably damaging	1.00
R1023:Mef2b	UTSW	8	70,618,247 (GRCm39)	missense	possibly damaging	0.82
R4091:Mef2b	UTSW	8	70,617,752 (GRCm39)	missense	probably damaging	1.00
R4162:Mef2b	UTSW	8	70,618,961 (GRCm39)	missense	probably damaging	1.00
R4562:Mef2b	UTSW	8	70,619,918 (GRCm39)	missense	probably damaging	1.00
R5318:Mef2b	UTSW	8	70,619,493 (GRCm39)	missense	probably damaging	0.99
R5752:Mef2b	UTSW	8	70,618,267 (GRCm39)	missense	possibly damaging	0.77
R6126:Mef2b	UTSW	8	70,619,526 (GRCm39)	missense	probably benign	0.01
R6279:Mef2b	UTSW	8	70,619,769 (GRCm39)	missense	possibly damaging	0.78
R6300:Mef2b	UTSW	8	70,619,769 (GRCm39)	missense	possibly damaging	0.78
R6332:Mef2b	UTSW	8	70,616,789 (GRCm39)	splice site	probably null
R6369:Mef2b	UTSW	8	70,618,209 (GRCm39)	missense	probably benign	0.05
R6873:Mef2b	UTSW	8	70,618,957 (GRCm39)	missense	probably benign	0.29
R7266:Mef2b	UTSW	8	70,616,938 (GRCm39)	missense	probably damaging	1.00
R9638:Mef2b	UTSW	8	70,619,506 (GRCm39)	frame shift	probably null
X0022:Mef2b	UTSW	8	70,619,484 (GRCm39)	missense	probably benign	0.41
Z1176:Mef2b	UTSW	8	70,619,025 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAGAGAGAACCCCATGGCCTAC -3'
(R):5'- GCCTTAGTGATGCACAGTGG -3'

Sequencing Primer
(F):5'- ACAAGCCTTCTTACCTATCTTGTGGG -3'
(R):5'- ACAGTGGGTGCCCTCGTC -3'

Posted On

2016-04-27