Mutagenetix > Incidental Mutation

Incidental Mutation 'R8862:Myod1'

675714

Institutional Source

Beutler Lab

Gene Symbol

Myod1

Ensembl Gene

ENSMUSG00000009471

Gene Name

myogenic differentiation 1

Synonyms

bHLHc1, MYF3, Myod-1, MyoD

MMRRC Submission

068741-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R8862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46025898-46028516 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46026487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 131 (T131A)

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: T131A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072330
Gene: ENSMUSG00000009471
AA Change: T131A

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,901,172 (GRCm39)	G685R	probably benign	Het
Ahdc1	T	C	4: 132,791,129 (GRCm39)	F790S	possibly damaging	Het
Alg10b	T	C	15: 90,109,893 (GRCm39)	Y69H	probably damaging	Het
Amer3	A	T	1: 34,626,465 (GRCm39)	S235C	probably damaging	Het
Ankfy1	G	T	11: 72,644,469 (GRCm39)	S722I	probably benign	Het
Baz1a	T	C	12: 55,032,624 (GRCm39)		probably benign	Het
Ccdc177	A	G	12: 80,804,208 (GRCm39)	S689P	unknown	Het
Cdh24	C	A	14: 54,869,874 (GRCm39)	R681L	probably damaging	Het
Cdk14	T	G	5: 5,060,862 (GRCm39)	I338L	probably benign	Het
Clec2m	T	C	6: 129,308,494 (GRCm39)	T12A	probably benign	Het
Col18a1	G	T	10: 76,949,044 (GRCm39)	S156*	probably null	Het
Col6a6	T	C	9: 105,663,348 (GRCm39)	Y63C	probably damaging	Het
Cytip	G	A	2: 58,037,887 (GRCm39)	T159M	probably benign	Het
Dnah5	T	C	15: 28,459,502 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,855,927 (GRCm39)	Y744C	probably damaging	Het
Dop1a	T	C	9: 86,406,404 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,934 (GRCm39)	D385E	probably damaging	Het
Efhc1	A	C	1: 21,037,573 (GRCm39)	D250A		Het
Epha3	T	A	16: 63,431,348 (GRCm39)	T519S	probably benign	Het
Gas2l3	A	G	10: 89,250,282 (GRCm39)	Y279H	probably damaging	Het
Gatd3a	A	G	10: 78,005,461 (GRCm39)	S35P	probably damaging	Het
Gemin6	G	A	17: 80,535,432 (GRCm39)	V131I	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gnai2	C	A	9: 107,512,326 (GRCm39)	A31S		Het
Greb1l	A	G	18: 10,555,042 (GRCm39)	D1696G	possibly damaging	Het
Itfg2	T	C	6: 128,394,668 (GRCm39)	E35G	probably damaging	Het
Kctd10	A	G	5: 114,503,921 (GRCm39)	F244L	probably damaging	Het
Kif19b	C	A	5: 140,472,534 (GRCm39)	P686Q	probably damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Lgals9	G	T	11: 78,860,716 (GRCm39)		probably benign	Het
Lrriq4	A	T	3: 30,705,088 (GRCm39)	N372I	probably damaging	Het
Mical2	A	G	7: 111,910,574 (GRCm39)	N248S	probably damaging	Het
Mipep	T	A	14: 61,080,689 (GRCm39)	C560*	probably null	Het
Myo1a	G	A	10: 127,548,653 (GRCm39)	V396M	probably benign	Het
Nalcn	T	A	14: 123,647,199 (GRCm39)	D558V	possibly damaging	Het
Odf2l	T	A	3: 144,833,758 (GRCm39)		probably benign	Het
Or6d13	G	A	6: 116,518,186 (GRCm39)	M257I	probably benign	Het
Plbd2	A	T	5: 120,624,728 (GRCm39)	M480K	probably damaging	Het
Ppargc1a	A	G	5: 51,631,235 (GRCm39)	F465L	possibly damaging	Het
Ppp1r15b	A	T	1: 133,064,506 (GRCm39)	I659F	probably damaging	Het
Prune2	C	T	19: 17,097,510 (GRCm39)	L1005F	probably benign	Het
Pter	T	C	2: 12,985,341 (GRCm39)	S224P	probably damaging	Het
Ralgapa2	A	G	2: 146,266,731 (GRCm39)	I615T	probably benign	Het
Ror1	T	C	4: 100,191,715 (GRCm39)		probably null	Het
Rps2	A	G	17: 24,940,662 (GRCm39)	T259A	probably benign	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
S1pr4	G	A	10: 81,334,533 (GRCm39)	R314C	probably damaging	Het
Sema4f	A	T	6: 82,891,081 (GRCm39)	H575Q	probably benign	Het
Son	A	G	16: 91,453,734 (GRCm39)	D827G	probably damaging	Het
Sox8	A	T	17: 25,787,045 (GRCm39)	H219Q	possibly damaging	Het
Spink2	C	T	5: 77,357,615 (GRCm39)	D24N	probably benign	Het
Stard9	A	G	2: 120,534,099 (GRCm39)	D3452G	probably benign	Het
Syngr2	G	T	11: 117,703,507 (GRCm39)	D108Y	probably damaging	Het
Tardbp	G	A	4: 148,702,755 (GRCm39)	S403L	possibly damaging	Het
Tomm70a	T	C	16: 56,942,546 (GRCm39)	S108P	probably benign	Het
Ttc12	T	C	9: 49,351,515 (GRCm39)	T661A	probably benign	Het
Tubgcp6	A	G	15: 89,006,824 (GRCm39)	V66A	probably benign	Het
Unc13b	T	A	4: 43,235,207 (GRCm39)	L477Q	probably damaging	Het
Vmn1r77	T	A	7: 11,776,060 (GRCm39)	C279S	probably benign	Het
Vmn2r79	T	C	7: 86,645,712 (GRCm39)	S14P	probably benign	Het
Zan	T	C	5: 137,472,674 (GRCm39)	T72A	probably benign	Het
Zcchc2	A	G	1: 105,958,998 (GRCm39)	*1156W	probably null	Het
Zfp354c	A	T	11: 50,708,718 (GRCm39)	D26E	probably benign	Het

Other mutations in Myod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01545:Myod1	APN	7	46,026,539 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCGTGAGGATGAGCATGTGC -3'
(R):5'- AACCTGTTGCAGATACCCCAG -3'

Sequencing Primer
(F):5'- TGCAAGGCGTGCAAGCGCAAGA -3'
(R):5'- TTACCATGCCATCAGAGCAGTTG -3'

Posted On

2021-07-15