Mutagenetix > Incidental Mutation

Incidental Mutation 'R0067:Myf6'

59650

Institutional Source

Beutler Lab

Gene Symbol

Myf6

Ensembl Gene

ENSMUSG00000035923

Gene Name

myogenic factor 6

Synonyms

herculin, bHLHc4, MRF4

MMRRC Submission

038358-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

R0067 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

107328709-107330584 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 107329340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044210]

AlphaFold

P15375

Predicted Effect

probably null
Transcript: ENSMUST00000044210

SMART Domains

Protein: ENSMUSP00000047529
Gene: ENSMUSG00000035923

Domain	Start	End	E-Value	Type
BASIC	3	98	4.23e-40	SMART
HLH	99	150	8.72e-15	SMART
low complexity region	210	221	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for targeted mutations exhibit variable rib abnormalities, abnormal intercostal muscle morphology, reduced expression of Myf5, and postnatal mortality proportional to the severity of the rib defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	T	7: 28,610,995 (GRCm39)	V248M	possibly damaging	Het
Adamts9	T	A	6: 92,867,148 (GRCm39)	K79N	probably damaging	Het
AW209491	A	T	13: 14,812,328 (GRCm39)	I394F	probably benign	Het
Cacna1d	A	T	14: 29,796,967 (GRCm39)		probably benign	Het
Cacna1i	A	T	15: 80,265,373 (GRCm39)	I1542F	probably damaging	Het
Cep97	A	T	16: 55,735,924 (GRCm39)	N291K	possibly damaging	Het
Clasp2	A	T	9: 113,689,209 (GRCm39)		probably benign	Het
Coq8b	T	C	7: 26,932,906 (GRCm39)	L5P	possibly damaging	Het
Dennd1c	T	C	17: 57,382,465 (GRCm39)	Q67R	probably damaging	Het
Dysf	T	C	6: 84,040,313 (GRCm39)	V119A	possibly damaging	Het
Eml1	A	G	12: 108,429,786 (GRCm39)	D23G	possibly damaging	Het
Eva1c	A	T	16: 90,663,305 (GRCm39)	D13V	possibly damaging	Het
Fam151b	T	C	13: 92,610,504 (GRCm39)	K95R	probably benign	Het
Glo1	A	T	17: 30,813,245 (GRCm39)		probably null	Het
Gm11360	T	A	13: 28,140,214 (GRCm39)	M26K	probably benign	Het
Gps2	C	T	11: 69,805,607 (GRCm39)	Q42*	probably null	Het
Gypa	A	G	8: 81,229,710 (GRCm39)	H102R	possibly damaging	Het
Hdac4	G	A	1: 91,957,706 (GRCm39)	H103Y	probably damaging	Het
Hivep1	T	A	13: 42,312,132 (GRCm39)	D1457E	probably benign	Het
Hunk	A	G	16: 90,244,200 (GRCm39)	D110G	probably damaging	Het
L3mbtl1	A	G	2: 162,790,748 (GRCm39)	K225E	probably damaging	Het
Limch1	A	G	5: 67,131,965 (GRCm39)	S143G	probably damaging	Het
Macf1	T	C	4: 123,369,041 (GRCm39)	K342E	possibly damaging	Het
Mc5r	T	A	18: 68,472,637 (GRCm39)	M332K	probably damaging	Het
Memo1	A	G	17: 74,532,453 (GRCm39)	V185A	probably damaging	Het
Mtrex	C	T	13: 113,023,396 (GRCm39)	V727I	probably benign	Het
Myh14	G	A	7: 44,272,551 (GRCm39)	T1418I	probably benign	Het
Pbk	G	A	14: 66,052,675 (GRCm39)	V173I	possibly damaging	Het
Plekha5	C	T	6: 140,470,629 (GRCm39)	T90I	probably damaging	Het
Ptbp2	T	C	3: 119,514,290 (GRCm39)	T478A	probably benign	Het
Rasgrp1	C	A	2: 117,125,301 (GRCm39)	R246S	probably damaging	Het
Rflnb	A	T	11: 75,912,987 (GRCm39)	S134T	possibly damaging	Het
Rnf214	A	G	9: 45,778,796 (GRCm39)		probably null	Het
Rps6ka5	T	A	12: 100,582,342 (GRCm39)	I177F	probably damaging	Het
Rtn2	T	A	7: 19,028,396 (GRCm39)		probably benign	Het
Satb1	T	C	17: 52,111,364 (GRCm39)	T165A	probably damaging	Het
Scamp1	T	C	13: 94,340,658 (GRCm39)	Y237C	probably damaging	Het
Skint10	A	T	4: 112,568,753 (GRCm39)	F321L	probably benign	Het
Slc36a2	A	G	11: 55,053,466 (GRCm39)		probably benign	Het
Slc8a1	A	G	17: 81,745,188 (GRCm39)	V672A	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Sp140l2	T	A	1: 85,247,773 (GRCm39)	N5Y	probably benign	Het
Spats2	C	A	15: 99,110,168 (GRCm39)	P522T	possibly damaging	Het
Stkld1	A	T	2: 26,839,352 (GRCm39)	E339D	probably benign	Het
Tbc1d9	A	G	8: 83,960,872 (GRCm39)	T241A	probably damaging	Het
Ticrr	A	T	7: 79,327,158 (GRCm39)	D622V	probably damaging	Het
Tie1	A	G	4: 118,333,477 (GRCm39)		probably benign	Het
Trak1	G	C	9: 121,301,973 (GRCm39)	V910L	probably damaging	Het
Trmt1l	T	C	1: 151,324,131 (GRCm39)	V326A	probably benign	Het
Tshr	A	G	12: 91,472,057 (GRCm39)	T136A	probably damaging	Het
Ube3c	A	G	5: 29,803,936 (GRCm39)	T180A	possibly damaging	Het
Unc13a	A	C	8: 72,087,302 (GRCm39)	F1482V	probably damaging	Het
Unc79	A	G	12: 103,025,777 (GRCm39)	E388G	probably damaging	Het
Ush2a	A	T	1: 188,697,043 (GRCm39)	D5167V	probably damaging	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Wdfy4	G	A	14: 32,884,708 (GRCm39)	R65C	probably null	Het
Zcchc9	T	C	13: 91,945,368 (GRCm39)	I72V	probably benign	Het
Zfc3h1	G	T	10: 115,259,379 (GRCm39)	L1650F	possibly damaging	Het
Zzz3	A	G	3: 152,134,040 (GRCm39)	D366G	possibly damaging	Het

Other mutations in Myf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Myf6	APN	10	107,330,259 (GRCm39)	missense	probably damaging	1.00
IGL03131:Myf6	APN	10	107,330,132 (GRCm39)	missense	probably damaging	1.00
R0067:Myf6	UTSW	10	107,329,340 (GRCm39)	splice site	probably null
R0562:Myf6	UTSW	10	107,330,420 (GRCm39)	missense	probably benign	0.45
R1635:Myf6	UTSW	10	107,330,534 (GRCm39)	missense	probably damaging	1.00
R1700:Myf6	UTSW	10	107,329,220 (GRCm39)	missense	probably damaging	1.00
R4361:Myf6	UTSW	10	107,330,293 (GRCm39)	small deletion	probably benign
R4686:Myf6	UTSW	10	107,329,689 (GRCm39)	missense	probably benign
R5601:Myf6	UTSW	10	107,330,475 (GRCm39)	missense	probably damaging	0.99
R6229:Myf6	UTSW	10	107,330,280 (GRCm39)	missense	possibly damaging	0.92
R6705:Myf6	UTSW	10	107,329,690 (GRCm39)	missense	possibly damaging	0.70
R7024:Myf6	UTSW	10	107,330,390 (GRCm39)	missense	probably damaging	1.00
R9041:Myf6	UTSW	10	107,329,225 (GRCm39)	missense	probably benign
R9180:Myf6	UTSW	10	107,329,318 (GRCm39)	missense	probably benign	0.38
R9487:Myf6	UTSW	10	107,330,073 (GRCm39)	missense	probably benign	0.03
Z1176:Myf6	UTSW	10	107,330,121 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CTCGCCTTTCATAAAAGCTGGCATC -3'
(R):5'- ACTGGAAGCATCTAGGCTCAGCAC -3'

Sequencing Primer
(F):5'- GGCATCTGTGAGCCCTAATC -3'
(R):5'- TCTCAGGGATGCAATCCTCC -3'

Posted On

2013-07-11