Mutagenetix > Incidental Mutation

Incidental Mutation 'R3081:Mylk2'

265412

Institutional Source

Beutler Lab

Gene Symbol

Mylk2

Ensembl Gene

ENSMUSG00000027470

Gene Name

myosin, light polypeptide kinase 2, skeletal muscle

Synonyms

9830004H17Rik

MMRRC Submission

040571-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.404) question?

Stock #

R3081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152753272-152764988 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152761274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 459 (N459S)

Ref Sequence

ENSEMBL: ENSMUSP00000028970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028970]

AlphaFold

Q8VCR8

Predicted Effect

probably benign
Transcript: ENSMUST00000028970
AA Change: N459S

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028970
Gene: ENSMUSG00000027470
AA Change: N459S

Domain	Start	End	E-Value	Type
low complexity region	90	122	N/A	INTRINSIC
low complexity region	142	157	N/A	INTRINSIC
low complexity region	216	228	N/A	INTRINSIC
low complexity region	278	285	N/A	INTRINSIC
S_TKc	302	557	6.08e-87	SMART

Meta Mutation Damage Score

0.0934

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout mice display impaired skeletal muscle twitch tension response to tetanic stimulation. [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
Aamdc	T	A	7: 97,214,432 (GRCm39)	T48S	probably benign	Het
Abcc3	T	A	11: 94,247,802 (GRCm39)	L1230F	probably damaging	Het
Abcf3	T	A	16: 20,378,114 (GRCm39)	I542N	probably benign	Het
Als2	A	G	1: 59,226,508 (GRCm39)	L932P	probably damaging	Het
Arhgap45	G	A	10: 79,862,281 (GRCm39)	R583H	probably damaging	Het
Asl	T	C	5: 130,042,245 (GRCm39)	Y277C	probably damaging	Het
Bcl9	A	T	3: 97,112,989 (GRCm39)	N1155K	possibly damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Cdkn2aip	T	C	8: 48,164,532 (GRCm39)	K394E	probably damaging	Het
Cfap70	A	G	14: 20,470,830 (GRCm39)	Y472H	probably damaging	Het
Cfap77	T	A	2: 28,852,662 (GRCm39)	K203N	probably damaging	Het
Cldn14	T	C	16: 93,716,192 (GRCm39)	K218R	probably damaging	Het
Coro6	T	C	11: 77,359,738 (GRCm39)	F336S	probably damaging	Het
Derl1	C	A	15: 57,739,007 (GRCm39)		probably benign	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dock2	T	A	11: 34,181,610 (GRCm39)	H1651L	probably benign	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Dzip3	T	C	16: 48,747,921 (GRCm39)	H1163R	probably damaging	Het
Efcab9	T	C	11: 32,473,689 (GRCm39)	D35G	probably benign	Het
Evpl	T	C	11: 116,111,678 (GRCm39)	D2004G	probably damaging	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fastkd3	T	C	13: 68,732,987 (GRCm39)	V436A	probably benign	Het
Fbxl5	A	G	5: 43,908,222 (GRCm39)	Y660H	probably damaging	Het
Glt8d1	T	C	14: 30,728,617 (GRCm39)	V15A	probably benign	Het
Gpr25	A	C	1: 136,187,623 (GRCm39)	I330S	possibly damaging	Het
Hdac5	A	T	11: 102,096,436 (GRCm39)	V257E	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Lrriq1	T	A	10: 102,980,750 (GRCm39)	S1462C	probably damaging	Het
Mgat3	A	G	15: 80,096,055 (GRCm39)	D294G	probably benign	Het
Myo3b	A	C	2: 70,086,927 (GRCm39)		probably benign	Het
Naip6	T	C	13: 100,436,961 (GRCm39)	T521A	probably benign	Het
Nfxl1	C	T	5: 72,686,378 (GRCm39)	A608T	possibly damaging	Het
Nmd3	A	G	3: 69,631,732 (GRCm39)		probably benign	Het
Nol8	C	T	13: 49,831,868 (GRCm39)		probably benign	Het
Or1e29	A	T	11: 73,668,051 (GRCm39)	M34K	probably damaging	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8b42	T	A	9: 38,342,352 (GRCm39)	M258K	possibly damaging	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pcdhgb2	T	C	18: 37,824,566 (GRCm39)	F519S	probably damaging	Het
Phf11c	A	G	14: 59,618,933 (GRCm39)	V284A	probably benign	Het
Rasl11a	G	T	5: 146,784,113 (GRCm39)	C186F	probably benign	Het
Rps18-ps3	T	C	8: 107,989,469 (GRCm39)		noncoding transcript	Het
Rusc1	A	G	3: 88,999,030 (GRCm39)	S251P	possibly damaging	Het
Rxfp3	T	C	15: 11,037,303 (GRCm39)	E23G	probably benign	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Slc22a4	A	G	11: 53,898,615 (GRCm39)	V159A	probably benign	Het
Spata31d1a	T	C	13: 59,850,907 (GRCm39)	N407S	probably benign	Het
Ssc4d	T	C	5: 135,994,578 (GRCm39)	T51A	possibly damaging	Het
Stip1	C	T	19: 7,013,016 (GRCm39)	A23T	probably benign	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Tmed4	T	C	11: 6,224,151 (GRCm39)	H115R	probably benign	Het
Tmem255b	T	A	8: 13,501,048 (GRCm39)	L74H	probably damaging	Het
Trav6n-5	A	T	14: 53,342,741 (GRCm39)	H93L	possibly damaging	Het
Tsen54	T	A	11: 115,710,990 (GRCm39)	D187E	probably benign	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Vmn2r88	A	G	14: 51,656,089 (GRCm39)	N775S	probably damaging	Het
Vps13a	G	T	19: 16,642,101 (GRCm39)	N2175K	probably benign	Het
Wnk4	A	G	11: 101,167,717 (GRCm39)		probably benign	Het
Zfp180	A	T	7: 23,804,928 (GRCm39)	Q449L	probably damaging	Het

Other mutations in Mylk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01870:Mylk2	APN	2	152,757,134 (GRCm39)	missense	probably benign	0.20
IGL02097:Mylk2	APN	2	152,757,056 (GRCm39)	missense	probably damaging	0.98
IGL02158:Mylk2	APN	2	152,761,077 (GRCm39)	missense	probably damaging	1.00
IGL02189:Mylk2	APN	2	152,757,074 (GRCm39)	missense	probably damaging	1.00
IGL02243:Mylk2	APN	2	152,762,473 (GRCm39)	missense	probably damaging	1.00
IGL02716:Mylk2	APN	2	152,764,073 (GRCm39)	makesense	probably null
IGL02946:Mylk2	APN	2	152,761,130 (GRCm39)	nonsense	probably null
IGL03105:Mylk2	APN	2	152,759,279 (GRCm39)	missense	possibly damaging	0.94
R1184:Mylk2	UTSW	2	152,755,661 (GRCm39)	critical splice donor site	probably null
R1443:Mylk2	UTSW	2	152,761,336 (GRCm39)	missense	probably damaging	1.00
R1957:Mylk2	UTSW	2	152,759,527 (GRCm39)	missense	possibly damaging	0.86
R2496:Mylk2	UTSW	2	152,755,588 (GRCm39)	missense	probably damaging	1.00
R2870:Mylk2	UTSW	2	152,761,268 (GRCm39)	missense	probably damaging	1.00
R2870:Mylk2	UTSW	2	152,761,268 (GRCm39)	missense	probably damaging	1.00
R4510:Mylk2	UTSW	2	152,759,330 (GRCm39)	missense	probably damaging	1.00
R4511:Mylk2	UTSW	2	152,759,330 (GRCm39)	missense	probably damaging	1.00
R4600:Mylk2	UTSW	2	152,759,476 (GRCm39)	missense	probably damaging	1.00
R4633:Mylk2	UTSW	2	152,759,335 (GRCm39)	missense	probably benign	0.00
R4890:Mylk2	UTSW	2	152,762,274 (GRCm39)	missense	possibly damaging	0.88
R5267:Mylk2	UTSW	2	152,755,469 (GRCm39)	missense	probably benign
R5430:Mylk2	UTSW	2	152,759,468 (GRCm39)	missense	probably damaging	1.00
R5447:Mylk2	UTSW	2	152,754,430 (GRCm39)	missense	probably damaging	0.96
R6167:Mylk2	UTSW	2	152,757,673 (GRCm39)	splice site	probably null
R6327:Mylk2	UTSW	2	152,755,613 (GRCm39)	missense	possibly damaging	0.77
R6391:Mylk2	UTSW	2	152,759,315 (GRCm39)	missense	probably damaging	1.00
R6913:Mylk2	UTSW	2	152,755,610 (GRCm39)	missense	possibly damaging	0.76
R7066:Mylk2	UTSW	2	152,753,588 (GRCm39)	splice site	probably null
R7092:Mylk2	UTSW	2	152,757,110 (GRCm39)	missense	probably benign	0.21
R7403:Mylk2	UTSW	2	152,759,261 (GRCm39)	missense	probably damaging	1.00
R7442:Mylk2	UTSW	2	152,753,346 (GRCm39)	start gained	probably benign
R7443:Mylk2	UTSW	2	152,753,346 (GRCm39)	start gained	probably benign
R7453:Mylk2	UTSW	2	152,754,353 (GRCm39)	missense	probably damaging	1.00
R7477:Mylk2	UTSW	2	152,762,261 (GRCm39)	missense	probably damaging	1.00
R7529:Mylk2	UTSW	2	152,757,624 (GRCm39)	missense	probably damaging	1.00
R8029:Mylk2	UTSW	2	152,762,219 (GRCm39)	missense	probably damaging	1.00
R9339:Mylk2	UTSW	2	152,755,370 (GRCm39)	missense	probably damaging	1.00
R9462:Mylk2	UTSW	2	152,761,373 (GRCm39)	missense	probably damaging	1.00
R9525:Mylk2	UTSW	2	152,759,552 (GRCm39)	missense	probably damaging	0.99
Z1177:Mylk2	UTSW	2	152,762,250 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATACCACTGGGCACTTGGTG -3'
(R):5'- TTCTCCCTAGCATTCACCAAAG -3'

Sequencing Primer
(F):5'- CTGGGCACTTGGTGAAGATAATTGAC -3'
(R):5'- ATGCACCCAGGCTGAAGGATC -3'

Posted On

2015-02-05