Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Mylk2'

279646

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

Essential gene?

Possibly non essential (E-score: 0.333) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

152911352-152923068 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 152915136 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 277 (C277Y)

Ref Sequence

ENSEMBL: ENSMUSP00000028970 (fasta)

Gene Model

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

AlphaFold

Q8VCR8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028970
AA Change: C277Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028970
Gene: ENSMUSG00000027470
AA Change: C277Y

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 104,961,186	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,212,118	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,272,098	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,880,002	T788I	probably benign	Het
Asic1	T	C	15: 99,694,686		probably benign	Het
Cdhr4	T	A	9: 107,993,000	M68K	probably benign	Het
Cdhr5	G	T	7: 141,269,981	T637K	probably damaging	Het
Corin	A	T	5: 72,372,146	C289S	probably damaging	Het
Cpne4	T	C	9: 104,686,502	V26A	probably damaging	Het
Csmd1	T	C	8: 16,211,759	D908G	probably null	Het
Cyp2c29	A	G	19: 39,307,620	D126G	probably damaging	Het
Ddx42	G	A	11: 106,239,160	S426N	probably benign	Het
Dnah1	C	T	14: 31,305,001	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,164,795	T246A	probably damaging	Het
Fbn1	A	T	2: 125,363,969	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527	N536S	probably benign	Het
Gnal	G	A	18: 67,217,208		probably benign	Het
Gns	A	G	10: 121,390,693	T416A	probably benign	Het
Heatr5b	G	A	17: 78,817,514	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,691,684		probably benign	Het
Krt23	C	T	11: 99,493,010	G19R	probably benign	Het
Lama2	C	T	10: 27,138,960	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,917,891	V11M	probably damaging	Het
Man1a2	T	C	3: 100,582,131	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,589,456	V241F	possibly damaging	Het
Myh3	A	G	11: 67,082,924	D141G	probably benign	Het
Myo3b	A	T	2: 70,238,829	T471S	probably damaging	Het
Naip1	A	G	13: 100,425,588	V1023A	probably benign	Het
Olfm5	T	A	7: 104,154,231	T342S	probably benign	Het
Olfr1510	A	G	14: 52,410,054	F273L	probably benign	Het
Olfr38	T	A	6: 42,762,460	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,735,603	F263L	probably benign	Het
Plekhh2	A	T	17: 84,599,180	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,191,501		probably benign	Het
Rbm28	G	T	6: 29,138,618	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,273,327	F234L	probably benign	Het
Sele	T	C	1: 164,053,093	S415P	probably benign	Het
Shpk	T	C	11: 73,203,995	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,306,246	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,660,619	P120S	possibly damaging	Het
Slc8a2	A	G	7: 16,157,156	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,940,039	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,202,824	D739A	probably damaging	Het
Thg1l	A	G	11: 45,950,228	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,654,479	V540M	probably damaging	Het
Wdr48	A	G	9: 119,924,263	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,386,597	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,062,894	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,381,723	Y133*	probably null	Het

Other mutations in Mylk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01870:Mylk2	APN	2	152915214	missense	probably benign	0.20
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	splice site	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
R9339:Mylk2	UTSW	2	152913450	missense	probably damaging	1.00
R9462:Mylk2	UTSW	2	152919453	missense	probably damaging	1.00
R9525:Mylk2	UTSW	2	152917632	missense	probably damaging	0.99
Z1177:Mylk2	UTSW	2	152920330	missense	probably damaging	1.00

Posted On

2015-04-16