Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03131:Myf6'

410312

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myf6

Ensembl Gene

ENSMUSG00000035923

Gene Name

myogenic factor 6

Synonyms

herculin, bHLHc4, MRF4

Accession Numbers

Essential gene?

Probably essential (E-score: 0.909) question?

Stock #

IGL03131

Quality Score

Status

Chromosome

Chromosomal Location

107328709-107330584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107330132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 145 (Q145L)

Ref Sequence

ENSEMBL: ENSMUSP00000047529 (fasta)

Gene Model

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

AlphaFold

P15375

Predicted Effect

probably damaging
Transcript: ENSMUST00000044210
AA Change: Q145L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047529
Gene: ENSMUSG00000035923
AA Change: Q145L

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

Coding Region Coverage

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,251 (GRCm39)	R135S	unknown	Het
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Abca12	A	T	1: 71,385,861 (GRCm39)	F252L	probably benign	Het
Abcd3	A	T	3: 121,575,640 (GRCm39)		probably benign	Het
Acvr2b	C	A	9: 119,260,350 (GRCm39)	F364L	possibly damaging	Het
Adamts12	T	C	15: 11,345,650 (GRCm39)	C1564R	probably damaging	Het
Agap3	A	G	5: 24,682,130 (GRCm39)	T392A	probably benign	Het
Ano1	A	G	7: 144,157,322 (GRCm39)	F767L	possibly damaging	Het
Atg10	C	A	13: 91,085,412 (GRCm39)	R179I	probably null	Het
Bsph1	A	T	7: 13,207,012 (GRCm39)	K129N	probably damaging	Het
Calml4	A	G	9: 62,782,765 (GRCm39)	D77G	probably benign	Het
Cc2d1a	T	A	8: 84,870,056 (GRCm39)	K153M	probably damaging	Het
Col4a2	G	A	8: 11,475,979 (GRCm39)	V672I	probably benign	Het
Crnkl1	T	C	2: 145,774,178 (GRCm39)	K95R	probably benign	Het
Crtap	T	C	9: 114,209,072 (GRCm39)	D324G	possibly damaging	Het
Csmd1	C	T	8: 16,138,231 (GRCm39)	G1607E	probably damaging	Het
Dcbld2	T	G	16: 58,272,051 (GRCm39)	I369R	probably benign	Het
Dmc1	T	A	15: 79,452,892 (GRCm39)	I246L	probably benign	Het
Dock1	G	T	7: 134,475,912 (GRCm39)	V896L	possibly damaging	Het
Eftud2	G	A	11: 102,761,009 (GRCm39)	T112M	probably damaging	Het
F5	A	T	1: 163,989,388 (GRCm39)	I97F	possibly damaging	Het
Fasn	C	T	11: 120,701,550 (GRCm39)	V1939M	possibly damaging	Het
Gpatch2l	T	C	12: 86,328,285 (GRCm39)	V414A	probably benign	Het
Gpd2	T	C	2: 57,228,855 (GRCm39)		probably benign	Het
Gria4	T	G	9: 4,432,876 (GRCm39)	N769T	probably damaging	Het
Gtf3c2	A	T	5: 31,314,964 (GRCm39)	F885I	probably damaging	Het
Ifi209	C	T	1: 173,468,800 (GRCm39)	T210I	possibly damaging	Het
Kmt2c	A	G	5: 25,520,359 (GRCm39)	V1917A	probably benign	Het
Mad1l1	G	A	5: 140,293,458 (GRCm39)	A120V	probably benign	Het
Mef2c	T	C	13: 83,810,494 (GRCm39)	I382T	probably damaging	Het
Ms4a14	A	T	19: 11,285,056 (GRCm39)	L171I	probably benign	Het
Myh3	G	A	11: 66,981,935 (GRCm39)		probably benign	Het
Nbas	A	G	12: 13,329,417 (GRCm39)	I121V	probably benign	Het
Ncoa2	A	T	1: 13,247,398 (GRCm39)	S342T	probably damaging	Het
Nlrp1b	C	T	11: 71,052,741 (GRCm39)	D896N	possibly damaging	Het
Prss41	A	G	17: 24,061,498 (GRCm39)	Y98H	probably benign	Het
Ptpn13	A	T	5: 103,665,425 (GRCm39)	T450S	probably benign	Het
Rab39	G	A	9: 53,597,861 (GRCm39)	R135C	probably damaging	Het
Radil	A	G	5: 142,481,097 (GRCm39)	V570A	probably damaging	Het
Sbno1	C	T	5: 124,526,668 (GRCm39)	R949Q	probably damaging	Het
Sec61a2	T	A	2: 5,887,689 (GRCm39)	K98*	probably null	Het
Serbp1	T	A	6: 67,258,807 (GRCm39)		probably null	Het
Serpinb3c	G	T	1: 107,199,457 (GRCm39)	Q355K	probably benign	Het
Slc34a3	T	G	2: 25,121,246 (GRCm39)	D307A	probably benign	Het
Smarcad1	T	A	6: 65,051,937 (GRCm39)	S357T	probably damaging	Het
Spag17	G	A	3: 99,918,075 (GRCm39)	D353N	possibly damaging	Het
Spdl1	T	A	11: 34,721,592 (GRCm39)	Q39L	possibly damaging	Het
Syne2	A	C	12: 76,104,264 (GRCm39)	Q5485P	probably damaging	Het
Synj1	C	A	16: 90,785,056 (GRCm39)	V227F	probably damaging	Het
Syt12	T	C	19: 4,506,882 (GRCm39)	T88A	probably benign	Het
Tasor	C	T	14: 27,183,136 (GRCm39)	Q532*	probably null	Het
Tlr12	A	G	4: 128,509,670 (GRCm39)	F860S	probably damaging	Het
Trdn	C	A	10: 33,274,410 (GRCm39)	S461*	probably null	Het
Trip4	G	A	9: 65,764,727 (GRCm39)	P413S	probably benign	Het
Wdr17	A	G	8: 55,149,302 (GRCm39)		probably null	Het
Wnt9a	T	C	11: 59,221,855 (GRCm39)	L251P	probably damaging	Het
Xrcc1	A	T	7: 24,272,719 (GRCm39)	K618*	probably null	Het
Zfp759	T	C	13: 67,286,728 (GRCm39)	L93P	probably 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
R0067:Myf6	UTSW	10	107,329,340 (GRCm39)	splice site	probably null
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

Posted On

2016-08-02