Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Mef2b'

512856

Institutional Source

Beutler Lab

Gene Symbol

Mef2b

Ensembl Gene

ENSMUSG00000079033

Gene Name

myocyte enhancer factor 2B

Synonyms

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70605411-70620138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70618209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 96 (D96E)

Ref Sequence

ENSEMBL: ENSMUSP00000132314 (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: D96E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105767
Gene: ENSMUSG00000079033
AA Change: D96E

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: D96E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000105768
Gene: ENSMUSG00000079033
AA Change: D96E

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: D96E

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105770
Gene: ENSMUSG00000079033
AA Change: D96E

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: D96E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000105773
Gene: ENSMUSG00000079033
AA Change: D96E

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: D96E

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033
AA Change: D96E

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

0.0593

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 14,055,605 (GRCm39)	R571*	probably null	Het
Asb18	A	T	1: 89,942,193 (GRCm39)	I36N	probably damaging	Het
Ascc3	G	A	10: 50,576,081 (GRCm39)	G779S	probably damaging	Het
Atl2	T	C	17: 80,161,984 (GRCm39)	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,220,315 (GRCm39)	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,531,765 (GRCm39)	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,735,848 (GRCm39)	N256S	probably benign	Het
Cchcr1	T	C	17: 35,839,073 (GRCm39)	I474T	probably damaging	Het
Cd209c	T	C	8: 3,994,984 (GRCm39)	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,848,381 (GRCm39)	D171Y	probably damaging	Het
Crb1	C	T	1: 139,165,200 (GRCm39)	V975M	probably damaging	Het
Csmd1	C	T	8: 17,585,020 (GRCm39)		probably benign	Het
Ctnna2	A	G	6: 76,957,678 (GRCm39)	S524P	possibly damaging	Het
Eno1	T	C	4: 150,324,025 (GRCm39)		probably null	Het
Ero1a	T	C	14: 45,537,415 (GRCm39)	I170M	probably damaging	Het
Fam186a	A	G	15: 99,845,212 (GRCm39)	M344T	unknown	Het
Frem1	A	T	4: 82,832,029 (GRCm39)		probably null	Het
Gjb5	G	T	4: 127,249,723 (GRCm39)	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Hk2	G	T	6: 82,713,734 (GRCm39)	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,411,427 (GRCm39)	I322F	probably benign	Het
Itga1	T	C	13: 115,102,196 (GRCm39)	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,693 (GRCm39)	L1295S	probably damaging	Het
Macf1	T	C	4: 123,304,355 (GRCm39)	D49G	possibly damaging	Het
Megf10	A	T	18: 57,394,259 (GRCm39)	D461V	probably benign	Het
Myom1	T	C	17: 71,408,071 (GRCm39)	S1104P	probably damaging	Het
Nab1	A	G	1: 52,529,381 (GRCm39)	L172P	probably damaging	Het
Or2g1	T	G	17: 38,106,387 (GRCm39)	D17E	probably benign	Het
Pate1	A	G	9: 35,598,324 (GRCm39)	V18A	probably benign	Het
Pink1	T	C	4: 138,048,045 (GRCm39)		probably null	Het
Pnpla1	T	A	17: 29,097,455 (GRCm39)	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,814,280 (GRCm39)	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,889,840 (GRCm39)		probably null	Het
Rad52	A	G	6: 119,891,168 (GRCm39)	E76G	unknown	Het
Rad54l	A	G	4: 115,968,386 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,267,954 (GRCm39)	M17V	probably benign	Het
Rbm42	A	G	7: 30,340,738 (GRCm39)	M411T	unknown	Het
Reln	A	G	5: 22,256,359 (GRCm39)	I495T	probably benign	Het
Rnf224	A	G	2: 25,125,954 (GRCm39)	F133S	probably damaging	Het
Rrm1	C	A	7: 102,095,909 (GRCm39)	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,053,962 (GRCm39)	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,008,483 (GRCm39)	N127K	probably benign	Het
Skint7	A	T	4: 111,837,490 (GRCm39)	E89D	probably benign	Het
Slc22a5	T	G	11: 53,782,196 (GRCm39)	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,799,982 (GRCm39)	F263I	probably damaging	Het
Sncaip	A	G	18: 53,001,676 (GRCm39)	I66V	probably damaging	Het
Syngr1	A	C	15: 79,999,791 (GRCm39)		probably benign	Het
Tbc1d2	A	G	4: 46,614,420 (GRCm39)	Y554H	probably benign	Het
Tmem198	T	C	1: 75,456,387 (GRCm39)	V44A	probably benign	Het
Trappc11	T	C	8: 47,965,320 (GRCm39)		probably null	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vmn2r111	C	T	17: 22,767,583 (GRCm39)	C638Y	probably damaging	Het
Washc4	A	G	10: 83,410,308 (GRCm39)	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,907,831 (GRCm39)	V270A	probably benign	Het
Zfp92	G	A	X: 72,465,574 (GRCm39)	R189H	possibly damaging	Homo

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
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'- TTGAACTTCAGGGGAACTCACAG -3'
(R):5'- TTAGCACTACTCCCGGAGTC -3'

Sequencing Primer
(F):5'- GGAACTCACAGTGGTTTTAGTCCC -3'
(R):5'- GTCTCAAACTCAGACTGTGTATTGG -3'

Posted On

2018-04-27