Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01870:Mylk2'

178693

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mylk2

Ensembl Gene

ENSMUSG00000027470

Gene Name

myosin, light polypeptide kinase 2, skeletal muscle

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.455) question?

Stock #

IGL01870

Quality Score

Status

Chromosome

Chromosomal Location

152911352-152923068 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152915214 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 303 (N303S)

Ref Sequence

ENSEMBL: ENSMUSP00000028970 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028970
AA Change: N303S

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028970
Gene: ENSMUSG00000027470
AA Change: N303S

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

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,381,327	D125G	probably damaging	Het
Arhgap31	T	C	16: 38,618,242	K300E	probably damaging	Het
Cma2	C	A	14: 55,973,737	S162Y	probably benign	Het
Cntn4	A	G	6: 106,489,715	T193A	possibly damaging	Het
Col22a1	T	A	15: 71,952,528	M556L	probably benign	Het
Dld	A	G	12: 31,335,467	S292P	possibly damaging	Het
Dnah6	A	T	6: 73,032,569	D3746E	probably benign	Het
Eea1	A	G	10: 95,973,986	T9A	probably damaging	Het
Fam102a	T	C	2: 32,566,282	S319P	probably benign	Het
Gbf1	A	G	19: 46,285,669	K1714R	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm12794	T	A	4: 101,940,690	L95H	probably benign	Het
H2-M1	A	T	17: 36,670,063	M327K	probably benign	Het
Ifnz	T	A	4: 88,783,311	S176T	possibly damaging	Het
Irak4	T	C	15: 94,547,870	Y10H	probably benign	Het
Irx5	T	C	8: 92,359,777	F163L	probably damaging	Het
Jak3	C	T	8: 71,680,790	P376S	probably damaging	Het
Lrrc25	T	C	8: 70,617,787	S73P	possibly damaging	Het
Macf1	C	T	4: 123,474,113	G2285D	probably damaging	Het
Muc4	A	T	16: 32,753,196	T1025S	probably benign	Het
Olfr111	G	A	17: 37,530,664	R229H	probably benign	Het
Pcnx	T	C	12: 81,975,893	V1512A	probably benign	Het
Phlda3	A	G	1: 135,766,638	S64G	probably benign	Het
Pptc7	C	A	5: 122,313,602	S40R	probably damaging	Het
Ptpn4	A	C	1: 119,675,547		probably null	Het
Slc10a1	T	C	12: 80,960,528	M160V	probably benign	Het
Stac	T	C	9: 111,572,332	I349V	probably benign	Het
Synm	A	G	7: 67,736,118	S157P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,162,088	L924P	probably damaging	Het
Tcaf2	C	T	6: 42,624,477	V883I	possibly damaging	Het
Upp1	T	C	11: 9,125,700		probably null	Het
Whamm	C	T	7: 81,595,974	T726I	probably damaging	Het

Other mutations in Mylk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02097:Mylk2	APN	2	152915136	missense	probably damaging	0.98
IGL02158:Mylk2	APN	2	152919157	missense	probably damaging	1.00
IGL02189:Mylk2	APN	2	152915154	missense	probably damaging	1.00
IGL02243:Mylk2	APN	2	152920553	missense	probably damaging	1.00
IGL02716:Mylk2	APN	2	152922153	makesense	probably null
IGL02946:Mylk2	APN	2	152919210	nonsense	probably null
IGL03105:Mylk2	APN	2	152917359	missense	possibly damaging	0.94
R1184:Mylk2	UTSW	2	152913741	critical splice donor site	probably null
R1443:Mylk2	UTSW	2	152919416	missense	probably damaging	1.00
R1957:Mylk2	UTSW	2	152917607	missense	possibly damaging	0.86
R2496:Mylk2	UTSW	2	152913668	missense	probably damaging	1.00
R2870:Mylk2	UTSW	2	152919348	missense	probably damaging	1.00
R2870:Mylk2	UTSW	2	152919348	missense	probably damaging	1.00
R3081:Mylk2	UTSW	2	152919354	missense	probably benign	0.31
R4510:Mylk2	UTSW	2	152917410	missense	probably damaging	1.00
R4511:Mylk2	UTSW	2	152917410	missense	probably damaging	1.00
R4600:Mylk2	UTSW	2	152917556	missense	probably damaging	1.00
R4633:Mylk2	UTSW	2	152917415	missense	probably benign	0.00
R4890:Mylk2	UTSW	2	152920354	missense	possibly damaging	0.88
R5267:Mylk2	UTSW	2	152913549	missense	probably benign
R5430:Mylk2	UTSW	2	152917548	missense	probably damaging	1.00
R5447:Mylk2	UTSW	2	152912510	missense	probably damaging	0.96
R6167:Mylk2	UTSW	2	152915753	splice site	probably null
R6327:Mylk2	UTSW	2	152913693	missense	possibly damaging	0.77
R6391:Mylk2	UTSW	2	152917395	missense	probably damaging	1.00
R6913:Mylk2	UTSW	2	152913690	missense	possibly damaging	0.76
R7066:Mylk2	UTSW	2	152911668	intron	probably null
R7092:Mylk2	UTSW	2	152915190	missense	probably benign	0.21
R7403:Mylk2	UTSW	2	152917341	missense	probably damaging	1.00
R7442:Mylk2	UTSW	2	152911426	start gained	probably benign
R7443:Mylk2	UTSW	2	152911426	start gained	probably benign
R7453:Mylk2	UTSW	2	152912433	missense	probably damaging	1.00
R7477:Mylk2	UTSW	2	152920341	missense	probably damaging	1.00
R7529:Mylk2	UTSW	2	152915704	missense	probably damaging	1.00
R8029:Mylk2	UTSW	2	152920299	missense	probably damaging	1.00
Z1177:Mylk2	UTSW	2	152920330	missense	probably damaging	1.00

Posted On

2014-05-07