Mutagenetix > Incidental Mutation

Incidental Mutation 'R4903:Myf5'

377963

Institutional Source

Beutler Lab

Gene Symbol

Myf5

Ensembl Gene

ENSMUSG00000000435

Gene Name

myogenic factor 5

Synonyms

Myf-5, bHLHc2, B130010J22Rik

MMRRC Submission

042506-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4903 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

107318769-107321995 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 107321733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 20 (C20*)

Ref Sequence

ENSEMBL: ENSMUSP00000000445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000445]

AlphaFold

P24699

Predicted Effect

probably null
Transcript: ENSMUST00000000445
AA Change: C20*

SMART Domains

Protein: ENSMUSP00000000445
Gene: ENSMUSG00000000435
AA Change: C20*

Domain	Start	End	E-Value	Type
BASIC	1	88	5e-51	SMART
HLH	89	140	7.7e-16	SMART
Pfam:Myf5	143	214	4.5e-29	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit delayed appearance of myotomal cells in somites, and lack the distal portion of ribs resulting in inability to breathe and lethality at birth. Other mutants lack the rib phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abca9	A	G	11: 110,037,827 (GRCm39)	Y508H	probably damaging	Het
Abcc9	A	T	6: 142,546,691 (GRCm39)	L1347H	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Adam5	T	C	8: 25,276,248 (GRCm39)	Y473C	probably damaging	Het
Agbl2	A	G	2: 90,627,817 (GRCm39)	I207M	possibly damaging	Het
Akna	C	A	4: 63,292,274 (GRCm39)	R1130S	probably damaging	Het
Alg12	A	T	15: 88,698,743 (GRCm39)	I194N	probably damaging	Het
Alk	T	A	17: 72,176,558 (GRCm39)	H1582L	probably damaging	Het
Atn1	G	C	6: 124,720,220 (GRCm39)		probably benign	Het
Carhsp1	T	C	16: 8,478,864 (GRCm39)	T130A	probably damaging	Het
Chrna3	T	C	9: 54,922,810 (GRCm39)	T333A	probably benign	Het
Ctsr	T	A	13: 61,310,945 (GRCm39)	I34L	probably benign	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Dars2	G	C	1: 160,878,941 (GRCm39)	P362R	probably benign	Het
Dnah10	A	G	5: 124,894,812 (GRCm39)	E3459G	probably damaging	Het
Dus2	G	A	8: 106,771,437 (GRCm39)	D188N	probably benign	Het
Ece2	C	T	16: 20,449,972 (GRCm39)	R189*	probably null	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Egr2	T	A	10: 67,374,163 (GRCm39)	I51N	probably damaging	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
G2e3	A	G	12: 51,418,413 (GRCm39)	I603V	probably benign	Het
Gm11564	A	C	11: 99,705,858 (GRCm39)	C191G	unknown	Het
Gpatch8	A	G	11: 102,370,959 (GRCm39)	S860P	unknown	Het
Gprin1	C	G	13: 54,885,742 (GRCm39)	W844S	probably damaging	Het
Hhipl2	T	A	1: 183,207,698 (GRCm39)	Y252*	probably null	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hrg	A	G	16: 22,779,901 (GRCm39)		probably benign	Het
Hsh2d	C	T	8: 72,947,372 (GRCm39)	A23V	probably benign	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Jak2	A	G	19: 29,252,436 (GRCm39)	S129G	probably benign	Het
Kif1a	C	T	1: 92,949,456 (GRCm39)	E1579K	probably damaging	Het
Lhcgr	A	T	17: 89,049,789 (GRCm39)	I579N	probably damaging	Het
Lrig3	A	T	10: 125,832,482 (GRCm39)		probably null	Het
Man2c1	C	A	9: 57,046,240 (GRCm39)	Q465K	probably benign	Het
Map3k5	T	A	10: 19,994,235 (GRCm39)	L1043Q	probably null	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mapk8ip3	A	G	17: 25,120,183 (GRCm39)	S946P	probably benign	Het
Mrpl50	T	C	4: 49,514,488 (GRCm39)	Y61C	probably damaging	Het
Nek11	T	C	9: 105,191,921 (GRCm39)	K163R	possibly damaging	Het
Or1l4b	A	T	2: 37,036,383 (GRCm39)	H53L	probably benign	Het
Or4c105	A	T	2: 88,648,342 (GRCm39)	I276L	probably benign	Het
Pcdhga9	C	A	18: 37,872,058 (GRCm39)	T629K	probably damaging	Het
Pglyrp1	A	G	7: 18,624,128 (GRCm39)	N137S	probably benign	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pitpnm2	T	A	5: 124,290,668 (GRCm39)	Y6F	probably damaging	Het
Pkd1	T	G	17: 24,790,976 (GRCm39)	V1057G	probably benign	Het
Plcb3	C	A	19: 6,933,211 (GRCm39)	R970L	probably damaging	Het
Plekha5	T	A	6: 140,532,093 (GRCm39)	M586K	probably damaging	Het
Ppp4r4	T	A	12: 103,557,030 (GRCm39)		probably null	Het
Rasal3	C	T	17: 32,616,357 (GRCm39)	C278Y	probably damaging	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Sema3d	A	G	5: 12,613,125 (GRCm39)	K401E	probably benign	Het
Sema7a	T	C	9: 57,862,378 (GRCm39)	Y194H	probably benign	Het
Senp5	A	T	16: 31,802,117 (GRCm39)	Y585N	probably damaging	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Shbg	C	T	11: 69,505,912 (GRCm39)	S365N	probably benign	Het
Slc39a6	A	T	18: 24,730,925 (GRCm39)	S65T	probably damaging	Het
Stk3	T	C	15: 34,959,212 (GRCm39)	E320G	probably damaging	Het
Syk	T	A	13: 52,765,117 (GRCm39)	H81Q	probably damaging	Het
Tet1	A	G	10: 62,658,437 (GRCm39)	W1470R	probably damaging	Het
Thada	C	A	17: 84,559,828 (GRCm39)	V1450L	possibly damaging	Het
Tmem241	A	G	18: 12,237,176 (GRCm39)	S87P	probably damaging	Het
Trdv1	T	A	14: 54,119,375 (GRCm39)		probably benign	Het
Trim40	T	C	17: 37,194,117 (GRCm39)	E192G	possibly damaging	Het
Trip11	A	T	12: 101,853,065 (GRCm39)		probably null	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Tshr	A	G	12: 91,367,962 (GRCm39)	D35G	probably benign	Het
Tssc4	T	C	7: 142,624,322 (GRCm39)	V210A	probably damaging	Het
Ttk	T	A	9: 83,747,201 (GRCm39)	I680N	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl4a	T	C	18: 80,250,493 (GRCm39)	F30L	probably damaging	Het
Ubac2	G	T	14: 122,231,650 (GRCm39)	C192F	probably benign	Het
Vmn1r12	A	G	6: 57,136,502 (GRCm39)	T156A	possibly damaging	Het
Zfp747l1	T	A	7: 126,984,578 (GRCm39)	T175S	probably benign	Het

Other mutations in Myf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02236:Myf5	APN	10	107,320,051 (GRCm39)	missense	possibly damaging	0.80
R0179:Myf5	UTSW	10	107,321,779 (GRCm39)	missense	possibly damaging	0.76
R1475:Myf5	UTSW	10	107,320,515 (GRCm39)	missense	probably benign	0.24
R4966:Myf5	UTSW	10	107,321,733 (GRCm39)	nonsense	probably null
R5861:Myf5	UTSW	10	107,320,069 (GRCm39)	missense	probably benign	0.00
R8785:Myf5	UTSW	10	107,321,548 (GRCm39)	missense	probably benign	0.00
R9026:Myf5	UTSW	10	107,321,308 (GRCm39)	missense	probably benign
R9408:Myf5	UTSW	10	107,321,527 (GRCm39)	missense	probably damaging	1.00
Z1177:Myf5	UTSW	10	107,319,955 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GGACTTCCTCTTGCAAGCTTTG -3'
(R):5'- TGCTAATAACGCCCAGCTACAG -3'

Sequencing Primer
(F):5'- AAGCTTTGCAGGCCCACATG -3'
(R):5'- GGCATCTGTCCTTGTTAATTACAGAG -3'

Posted On

2016-04-15