Mutagenetix > Incidental Mutation

Incidental Mutation 'R6873:Mef2b'

536258

Institutional Source

Beutler Lab

Gene Symbol

Mef2b

Ensembl Gene

ENSMUSG00000079033

Gene Name

myocyte enhancer factor 2B

Synonyms

MMRRC Submission

044970-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6873 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70605411-70620138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70618957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 180 (I180V)

Ref Sequence

ENSEMBL: ENSMUSP00000105768 (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
AA Change: I180V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105767
Gene: ENSMUSG00000079033
AA Change: I180V

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
AA Change: I180V

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105768
Gene: ENSMUSG00000079033
AA Change: I180V

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: ENSMUST00000110143
AA Change: I180V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000105770
Gene: ENSMUSG00000079033
AA Change: I180V

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 benign
Transcript: ENSMUST00000110146
AA Change: I180V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105773
Gene: ENSMUSG00000079033
AA Change: I180V

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 benign
Transcript: ENSMUST00000163756
AA Change: I180V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033
AA Change: I180V

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (48/49)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss1	A	G	12: 112,599,138 (GRCm39)	D123G	probably benign	Het
Agbl4	A	G	4: 111,423,856 (GRCm39)	D294G	possibly damaging	Het
Apob	G	T	12: 8,065,995 (GRCm39)	M4288I	probably benign	Het
Arnt	T	G	3: 95,381,886 (GRCm39)	F160V	probably damaging	Het
Atp5f1a	C	T	18: 77,863,540 (GRCm39)	R42*	probably null	Het
Bhlha15	A	G	5: 144,128,203 (GRCm39)	D105G	probably benign	Het
C6	A	G	15: 4,820,461 (GRCm39)	T491A	probably benign	Het
Calhm5	G	C	10: 33,968,448 (GRCm39)	R202G	probably damaging	Het
Caskin1	A	G	17: 24,723,153 (GRCm39)	E647G	probably benign	Het
Col11a2	A	G	17: 34,283,993 (GRCm39)	D1579G	unknown	Het
Dctn2	T	G	10: 127,112,105 (GRCm39)		probably null	Het
Eqtn	A	G	4: 94,815,258 (GRCm39)	V80A	probably damaging	Het
Etl4	A	G	2: 20,802,803 (GRCm39)		probably null	Het
Fbxo10	T	C	4: 45,041,787 (GRCm39)	D814G	possibly damaging	Het
Galnt10	A	G	11: 57,672,045 (GRCm39)	D445G	probably damaging	Het
Gm6309	T	C	5: 146,104,998 (GRCm39)	D305G	probably damaging	Het
Grap2	G	A	15: 80,527,874 (GRCm39)	V107I	probably damaging	Het
Igsf10	C	T	3: 59,235,865 (GRCm39)	A1439T	probably benign	Het
Krt5	G	A	15: 101,621,312 (GRCm39)		probably benign	Het
Lancl2	A	G	6: 57,699,642 (GRCm39)	I152M	possibly damaging	Het
Mast3	A	T	8: 71,239,236 (GRCm39)	C447*	probably null	Het
Mon1b	T	C	8: 114,368,697 (GRCm39)	Y533H	probably damaging	Het
Mst1r	A	T	9: 107,788,843 (GRCm39)	H454L	possibly damaging	Het
Nhlrc4	G	A	17: 26,162,496 (GRCm39)	Q84*	probably null	Het
Nlk	A	G	11: 78,481,774 (GRCm39)	I229T	possibly damaging	Het
Nlrp6	T	C	7: 140,503,433 (GRCm39)	I513T	probably benign	Het
Or1j12	A	T	2: 36,343,508 (GRCm39)	I304F	probably benign	Het
Or2n1	A	T	17: 38,486,259 (GRCm39)	M95L	probably benign	Het
Or4c108	T	C	2: 88,803,768 (GRCm39)	T156A	probably benign	Het
Panx1	A	T	9: 14,921,513 (GRCm39)	Y121N	probably damaging	Het
Pfkfb4	A	C	9: 108,839,403 (GRCm39)		probably null	Het
Setbp1	A	G	18: 78,902,774 (GRCm39)	S298P	probably benign	Het
Sh3bgr	A	C	16: 96,007,691 (GRCm39)	K19Q	probably damaging	Het
Slc35c2	T	C	2: 165,124,729 (GRCm39)	D82G	possibly damaging	Het
Spata13	T	A	14: 60,929,406 (GRCm39)	D321E	probably benign	Het
Stab2	A	G	10: 86,697,230 (GRCm39)		probably null	Het
Sulf2	T	A	2: 165,931,195 (GRCm39)	I271F	probably damaging	Het
Sult2a5	A	T	7: 13,359,311 (GRCm39)	I96L	probably benign	Het
Sv2b	A	G	7: 74,855,954 (GRCm39)	F112S	probably damaging	Het
Sycp1	G	A	3: 102,748,296 (GRCm39)	T832I	probably benign	Het
Tm9sf2	A	T	14: 122,382,525 (GRCm39)	E179V	probably damaging	Het
Tmem209	A	G	6: 30,508,455 (GRCm39)	I66T	probably damaging	Het
Tspan10	T	C	11: 120,335,549 (GRCm39)	W220R	probably damaging	Het
Ttc39b	G	C	4: 83,164,513 (GRCm39)	N266K	probably damaging	Het
Uri1	A	T	7: 37,664,764 (GRCm39)	D309E	probably benign	Het
Zfhx3	C	T	8: 109,527,273 (GRCm39)	R1057W	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
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
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'- TTTCAGAGCTGTCCTACCGG -3'
(R):5'- GCTTCTCTGCAGGAACAACAG -3'

Sequencing Primer
(F):5'- CACTCCAGGCTGTGATCC -3'
(R):5'- AAAACTGTAGTTGGTTGTGACC -3'

Posted On

2018-10-18