Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01545:Myod1'

90318

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myod1

Ensembl Gene

ENSMUSG00000009471

Gene Name

myogenic differentiation 1

Synonyms

bHLHc1, MYF3, Myod-1, MyoD

Accession Numbers

Essential gene?

Probably essential (E-score: 0.882) question?

Stock #

IGL01545

Quality Score

Status

Chromosome

Chromosomal Location

46025898-46028516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46026539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 148 (E148V)

Ref Sequence

ENSEMBL: ENSMUSP00000072330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072514]

AlphaFold

P10085

PDB Structure

CRYSTAL STRUCTURE OF MYOD BHLH DOMAIN BOUND TO DNA: PERSPECTIVES ON DNA RECOGNITION AND IMPLICATIONS FOR TRANSCRIPTIONAL ACTIVATION [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000072514
AA Change: E148V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072330
Gene: ENSMUSG00000009471
AA Change: E148V

Domain	Start	End	E-Value	Type
BASIC	1	114	1.29e-62	SMART
HLH	115	166	1.44e-15	SMART
low complexity region	169	186	N/A	INTRINSIC
Pfam:Myf5	190	258	1.6e-27	PFAM
low complexity region	261	286	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal muscle development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	G	A	11: 30,376,228 (GRCm39)	S213L	probably benign	Het
Adgrv1	A	G	13: 81,614,303 (GRCm39)	I4030T	possibly damaging	Het
Ap4b1	G	A	3: 103,720,143 (GRCm39)	R55H	probably benign	Het
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Atp6v1h	T	A	1: 5,159,282 (GRCm39)	M55K	probably benign	Het
B3galt4	A	C	17: 34,170,187 (GRCm39)	V17G	probably benign	Het
Cd79a	A	T	7: 24,600,691 (GRCm39)	M172L	probably benign	Het
Cry1	A	T	10: 85,020,226 (GRCm39)	L37H	possibly damaging	Het
D5Ertd615e	A	T	5: 45,326,755 (GRCm39)		noncoding transcript	Het
Dnah17	A	T	11: 118,010,394 (GRCm39)	L308Q	probably damaging	Het
Dnah7a	C	T	1: 53,557,941 (GRCm39)	A2158T	probably benign	Het
Dusp2	A	G	2: 127,179,695 (GRCm39)	T313A	probably benign	Het
Fam110c	T	C	12: 31,124,982 (GRCm39)	S315P	probably damaging	Het
Fcer2a	G	A	8: 3,733,598 (GRCm39)	R198*	probably null	Het
Fryl	G	A	5: 73,211,940 (GRCm39)	T2359M	probably damaging	Het
Gm14221	G	A	2: 160,410,303 (GRCm39)		noncoding transcript	Het
Gpc6	T	G	14: 118,202,242 (GRCm39)	L484R	probably damaging	Het
Igdcc3	G	A	9: 65,087,355 (GRCm39)	V298M	probably damaging	Het
Impg2	T	A	16: 56,046,080 (GRCm39)		probably benign	Het
Iqca1	T	A	1: 89,973,364 (GRCm39)	M803L	probably benign	Het
Itga4	T	C	2: 79,146,314 (GRCm39)		probably benign	Het
Katnip	A	G	7: 125,352,143 (GRCm39)		probably null	Het
Kidins220	T	C	12: 25,090,459 (GRCm39)	F1141S	possibly damaging	Het
Kif7	A	G	7: 79,352,026 (GRCm39)	I912T	probably damaging	Het
Klhl38	G	A	15: 58,185,854 (GRCm39)	R292W	probably damaging	Het
Lama3	A	G	18: 12,574,188 (GRCm39)	D590G	probably benign	Het
Map4k4	T	C	1: 40,053,389 (GRCm39)		probably benign	Het
Mbd4	A	T	6: 115,827,758 (GRCm39)	D39E	probably damaging	Het
Mrm2	A	G	5: 140,317,010 (GRCm39)	V8A	probably benign	Het
Or5d47	A	C	2: 87,804,895 (GRCm39)	I38S	probably benign	Het
Pdcd10	A	T	3: 75,448,475 (GRCm39)	F30I	possibly damaging	Het
Ptcd1	T	A	5: 145,096,346 (GRCm39)	H249L	probably damaging	Het
Ptcd3	A	T	6: 71,865,561 (GRCm39)	D451E	probably benign	Het
Rab44	C	A	17: 29,366,351 (GRCm39)	S680R	unknown	Het
Rad21l	A	T	2: 151,497,084 (GRCm39)	D340E	probably benign	Het
Ranbp2	T	C	10: 58,314,703 (GRCm39)	F1808L	possibly damaging	Het
Rnf122	T	C	8: 31,618,630 (GRCm39)	V126A	probably damaging	Het
Slc25a47	G	T	12: 108,820,142 (GRCm39)	V49L	probably benign	Het
Slc36a2	T	C	11: 55,075,633 (GRCm39)		probably null	Het
Sorl1	G	A	9: 41,955,252 (GRCm39)	R668W	probably damaging	Het
Tbx19	T	A	1: 164,966,725 (GRCm39)	N383I	possibly damaging	Het
Tenm4	A	G	7: 96,523,510 (GRCm39)	H1676R	probably benign	Het
Tgm5	G	T	2: 120,883,289 (GRCm39)	R351S	probably damaging	Het
Tmem106b	A	G	6: 13,071,842 (GRCm39)	S34G	probably benign	Het
Trmo	C	T	4: 46,386,169 (GRCm39)	G119R	probably damaging	Het
Ubr4	G	A	4: 139,170,140 (GRCm39)		probably benign	Het
Wfdc11	A	G	2: 164,507,365 (GRCm39)		probably null	Het
Xrn2	T	A	2: 146,880,099 (GRCm39)	I474K	probably benign	Het
Zfp827	A	G	8: 79,797,063 (GRCm39)	K383R	probably damaging	Het

Other mutations in Myod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02226:Myod1	APN	7	46,027,730 (GRCm39)	missense	probably benign
R0193:Myod1	UTSW	7	46,026,536 (GRCm39)	missense	probably damaging	1.00
R4928:Myod1	UTSW	7	46,026,474 (GRCm39)	missense	probably damaging	1.00
R5107:Myod1	UTSW	7	46,027,218 (GRCm39)	missense	probably benign	0.00
R5699:Myod1	UTSW	7	46,026,407 (GRCm39)	missense	probably damaging	0.99
R5985:Myod1	UTSW	7	46,027,222 (GRCm39)	missense	probably damaging	1.00
R6362:Myod1	UTSW	7	46,026,305 (GRCm39)	missense	possibly damaging	0.56
R6665:Myod1	UTSW	7	46,026,281 (GRCm39)	missense	probably damaging	0.99
R6786:Myod1	UTSW	7	46,027,741 (GRCm39)	missense	probably benign
R7295:Myod1	UTSW	7	46,027,643 (GRCm39)	missense	probably benign	0.05
R7542:Myod1	UTSW	7	46,026,097 (GRCm39)	start codon destroyed	probably benign	0.41
R8862:Myod1	UTSW	7	46,026,487 (GRCm39)	missense	probably damaging	0.99
R9149:Myod1	UTSW	7	46,026,593 (GRCm39)	missense
R9297:Myod1	UTSW	7	46,026,356 (GRCm39)	missense	probably damaging	0.99
R9318:Myod1	UTSW	7	46,026,356 (GRCm39)	missense	probably damaging	0.99
R9710:Myod1	UTSW	7	46,026,575 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03