Mutagenetix > Incidental Mutation

Incidental Mutation 'R6300:Mef2b'

509033

Institutional Source

Beutler Lab

Gene Symbol

Mef2b

Ensembl Gene

ENSMUSG00000079033

Gene Name

myocyte enhancer factor 2B

Synonyms

MMRRC Submission

044409-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70605411-70620138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70619769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 285 (T285I)

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

possibly damaging
Transcript: ENSMUST00000110143
AA Change: T285I

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105770
Gene: ENSMUSG00000079033
AA Change: T285I

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

possibly damaging
Transcript: ENSMUST00000110146
AA Change: T295I

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105773
Gene: ENSMUSG00000079033
AA Change: T295I

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

possibly damaging
Transcript: ENSMUST00000163756
AA Change: T295I

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033
AA Change: T295I

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

0.0973

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (72/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,642,885 (GRCm39)	T185A	possibly damaging	Het
4932414N04Rik	A	G	2: 68,561,453 (GRCm39)	Y260C	possibly damaging	Het
Adamtsl1	G	A	4: 86,166,254 (GRCm39)	G395S	probably damaging	Het
Amn	T	C	12: 111,240,623 (GRCm39)	L85P	probably benign	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apip	C	T	2: 102,917,498 (GRCm39)	R66C	possibly damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Apol6	A	T	15: 76,935,471 (GRCm39)	I247L	probably benign	Het
Arfgap2	A	G	2: 91,097,540 (GRCm39)	Q112R	probably benign	Het
Armh1	A	G	4: 117,088,979 (GRCm39)	Y139H	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cct2	C	T	10: 116,892,064 (GRCm39)	G328D	probably damaging	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cers5	G	T	15: 99,670,100 (GRCm39)	A54E	probably damaging	Het
Ctdp1	T	A	18: 80,502,455 (GRCm39)	M152L	probably benign	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Defb36	T	A	2: 152,454,418 (GRCm39)	W26R	probably damaging	Het
Dnah17	T	C	11: 117,925,136 (GRCm39)	E3899G	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Duox1	T	G	2: 122,168,181 (GRCm39)	L1102R	probably damaging	Het
Dzip3	A	G	16: 48,772,170 (GRCm39)	S500P	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Hoxd3	A	G	2: 74,574,420 (GRCm39)	Y22C	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il6ra	A	G	3: 89,794,436 (GRCm39)	V175A	probably damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Marchf10	T	C	11: 105,273,063 (GRCm39)	E692G	probably damaging	Het
Mars1	G	A	10: 127,132,429 (GRCm39)	T856M	probably benign	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pepd	G	A	7: 34,668,968 (GRCm39)	R196H	probably damaging	Het
Pla2g4e	A	T	2: 120,013,219 (GRCm39)	M367K	probably benign	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Serpina3k	A	T	12: 104,306,981 (GRCm39)	N71I	probably damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Smc4	T	C	3: 68,935,224 (GRCm39)	V771A	probably benign	Het
Snapc4	A	G	2: 26,268,563 (GRCm39)	S33P	probably benign	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tjp3	T	A	10: 81,116,951 (GRCm39)	R193*	probably null	Het
Tm7sf2	A	T	19: 6,117,230 (GRCm39)	W58R	probably damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Utrn	T	A	10: 12,377,220 (GRCm39)	Y2612F	probably benign	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp382	G	A	7: 29,831,054 (GRCm39)		probably null	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	probably damaging	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
R4950:Mef2b	UTSW	8	70,619,846 (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
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'- TTGGAGTACTGACAGGATCTCCG -3'
(R):5'- AGACTTCGGGAACTCTGTGGAG -3'

Sequencing Primer
(F):5'- GTACTGACAGGATCTCCGCTCAC -3'
(R):5'- AGGAACCTCTTGGAGCGCTAC -3'

Posted On

2018-04-02