Mutagenetix > Incidental Mutation

Incidental Mutation 'R6455:Myog'

519515

Institutional Source

Beutler Lab

Gene Symbol

Myog

Ensembl Gene

ENSMUSG00000026459

Gene Name

myogenin

Synonyms

bHLHc3, myo

MMRRC Submission

044591-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6455 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

134217742-134220286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134218226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 145 (D145N)

Ref Sequence

ENSEMBL: ENSMUSP00000027730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027730]

AlphaFold

P12979

Predicted Effect

probably benign
Transcript: ENSMUST00000027730
AA Change: D145N

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027730
Gene: ENSMUSG00000026459
AA Change: D145N

Domain	Start	End	E-Value	Type
BASIC	1	86	7.02e-46	SMART
HLH	87	138	3.43e-13	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a severe reduction in muscle mass associated with delayed primary myogenesis and very little secondary myofiber formation, defects of the thoracic skeleton, and perinatal death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,042,376 (GRCm39)	R1899G	probably damaging	Het
Abca6	C	T	11: 110,132,407 (GRCm39)	G296D	probably damaging	Het
Abcb5	A	T	12: 118,854,284 (GRCm39)		probably null	Het
Adam28	T	G	14: 68,870,657 (GRCm39)	T339P	probably damaging	Het
Adam34l	T	A	8: 44,079,189 (GRCm39)	H345L	probably damaging	Het
Adcy10	C	G	1: 165,345,943 (GRCm39)	Q331E	probably damaging	Het
Aldh1a2	A	T	9: 71,160,196 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,673,639 (GRCm39)	I3078N	probably damaging	Het
Amtn	A	T	5: 88,528,139 (GRCm39)	N71Y	probably damaging	Het
Arhgef18	A	T	8: 3,438,753 (GRCm39)	Y370F	probably benign	Het
Arid4a	T	C	12: 71,121,862 (GRCm39)	S748P	probably benign	Het
Atp2b1	C	A	10: 98,852,842 (GRCm39)	Q108K	possibly damaging	Het
Bcdin3d	T	C	15: 99,368,830 (GRCm39)	D123G	probably benign	Het
Capn15	A	G	17: 26,184,410 (GRCm39)	S24P	probably damaging	Het
Cc2d2a	T	A	5: 43,896,754 (GRCm39)	S1550R	possibly damaging	Het
Ccdc7a	C	T	8: 129,559,091 (GRCm39)	V1174M	probably damaging	Het
Cd22	T	A	7: 30,575,578 (GRCm39)	I155F	probably damaging	Het
Ceacam3	T	C	7: 16,895,863 (GRCm39)	I611T	possibly damaging	Het
Chrna1	C	T	2: 73,397,180 (GRCm39)	D370N	possibly damaging	Het
Dlg2	C	A	7: 92,093,716 (GRCm39)		probably null	Het
Dll4	A	T	2: 119,164,276 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,058,108 (GRCm39)	S137P	probably benign	Het
Epn2	A	T	11: 61,424,467 (GRCm39)	M250K	probably damaging	Het
Fat2	T	A	11: 55,161,283 (GRCm39)	Q3149L	probably damaging	Het
Fbxl13	G	A	5: 21,761,812 (GRCm39)	S341F	probably benign	Het
Gm5141	A	T	13: 62,922,597 (GRCm39)	C191S	probably damaging	Het
Gm5150	C	T	3: 16,044,815 (GRCm39)	G137S	probably damaging	Het
Gpr75	C	T	11: 30,841,529 (GRCm39)	R145W	probably damaging	Het
Heatr5b	G	A	17: 79,060,502 (GRCm39)	H2058Y	probably benign	Het
Ina	G	A	19: 47,012,000 (GRCm39)	E473K	probably benign	Het
Irx6	T	C	8: 93,402,700 (GRCm39)	S22P	probably benign	Het
Itpr1	T	A	6: 108,394,933 (GRCm39)	M32K	probably damaging	Het
Jmjd1c	T	A	10: 67,061,795 (GRCm39)	S1383T	probably benign	Het
Lclat1	T	A	17: 73,468,828 (GRCm39)	S3T	probably damaging	Het
Llgl1	G	A	11: 60,600,486 (GRCm39)	V612M	probably damaging	Het
Mios	A	G	6: 8,231,239 (GRCm39)	R708G	probably benign	Het
Mphosph8	T	C	14: 56,925,943 (GRCm39)	L636P	probably damaging	Het
Mrgpra2b	T	A	7: 47,113,893 (GRCm39)	N254Y	probably damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Nat10	T	A	2: 103,570,231 (GRCm39)	I371F	possibly damaging	Het
Neb	A	T	2: 52,057,656 (GRCm39)	Y229*	probably null	Het
Nlrp6	T	A	7: 140,507,422 (GRCm39)	I896K	possibly damaging	Het
Or11g7	A	T	14: 50,691,042 (GRCm39)	I178L	possibly damaging	Het
Or52p2	G	A	7: 102,237,878 (GRCm39)	A24V	probably benign	Het
Or5an11	T	C	19: 12,246,070 (GRCm39)	S159P	probably damaging	Het
Pate5	T	A	9: 35,755,351 (GRCm39)	K3*	probably null	Het
Pcdhgc5	A	C	18: 37,954,301 (GRCm39)	E525A	probably damaging	Het
Pira1	T	A	7: 3,741,930 (GRCm39)	Y150F	probably benign	Het
Pkd2	C	A	5: 104,607,790 (GRCm39)	D96E	probably benign	Het
Prtg	A	G	9: 72,815,138 (GRCm39)	D1022G	probably damaging	Het
Ptpn13	T	C	5: 103,689,150 (GRCm39)	M981T	probably benign	Het
Rc3h2	C	A	2: 37,299,482 (GRCm39)	A183S	probably damaging	Het
Rorb	A	T	19: 18,937,856 (GRCm39)	I270N	probably damaging	Het
Rpgrip1	C	T	14: 52,378,646 (GRCm39)	R524W	probably damaging	Het
Slc25a10	T	C	11: 120,386,031 (GRCm39)	V124A	probably damaging	Het
Slc40a1	T	A	1: 45,958,107 (GRCm39)	I109F	probably damaging	Het
Spen	G	A	4: 141,202,820 (GRCm39)	R1936W	probably damaging	Het
St6gal2	T	A	17: 55,789,514 (GRCm39)	Y183N	probably benign	Het
Svil	A	G	18: 5,056,629 (GRCm39)	K588E	possibly damaging	Het
Tas2r122	C	T	6: 132,688,626 (GRCm39)	W89*	probably null	Het
Tbxas1	T	A	6: 38,929,079 (GRCm39)		probably benign	Het
Tia1	T	A	6: 86,397,360 (GRCm39)	I111N	probably damaging	Het
Tlr9	T	A	9: 106,101,198 (GRCm39)	L163H	probably damaging	Het
Tnn	C	T	1: 159,942,289 (GRCm39)	V806M	probably damaging	Het
Traf5	G	A	1: 191,731,887 (GRCm39)	A318V	probably benign	Het
Ttc3	T	A	16: 94,219,482 (GRCm39)	M1K	probably null	Het
Utp25	G	T	1: 192,810,684 (GRCm39)	D106E	probably benign	Het
Vmn1r192	T	A	13: 22,372,000 (GRCm39)	R73S	probably benign	Het
Vmn1r71	T	C	7: 10,482,331 (GRCm39)	Y53C	probably benign	Het
Vmn2r34	T	A	7: 7,686,582 (GRCm39)	N372Y	probably damaging	Het
Wbp2	A	T	11: 115,970,579 (GRCm39)	S229R	probably damaging	Het
Wdr18	C	T	10: 79,801,115 (GRCm39)	T176I	probably damaging	Het

Other mutations in Myog

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0013:Myog	UTSW	1	134,217,973 (GRCm39)	missense	probably damaging	0.99
R0013:Myog	UTSW	1	134,217,973 (GRCm39)	missense	probably damaging	0.99
R0533:Myog	UTSW	1	134,218,211 (GRCm39)	missense	possibly damaging	0.82
R5309:Myog	UTSW	1	134,218,064 (GRCm39)	missense	probably damaging	0.99
R5312:Myog	UTSW	1	134,218,064 (GRCm39)	missense	probably damaging	0.99
R7730:Myog	UTSW	1	134,218,914 (GRCm39)	critical splice donor site	probably null
R9285:Myog	UTSW	1	134,218,895 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- AGCCCCACTTCTATGATGGG -3'
(R):5'- TGGACAGTCTAGCCGACAAG -3'

Sequencing Primer
(F):5'- GATGGGGAAAACTACCTTCCTGTC -3'
(R):5'- CAGTCTAGCCGACAAGGAAAG -3'

Posted On

2018-05-24