Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00978:Mylk3'

28084

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mylk3

Ensembl Gene

ENSMUSG00000031698

Gene Name

myosin light chain kinase 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

IGL00978

Quality Score

Status

Chromosome

Chromosomal Location

85324303-85386345 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 85355526 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 211 (L211*)

Ref Sequence

ENSEMBL: ENSMUSP00000113389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034133] [ENSMUST00000121972] [ENSMUST00000122452] [ENSMUST00000137290]

Predicted Effect

probably null
Transcript: ENSMUST00000034133
AA Change: L344*

SMART Domains

Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: L344*

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
low complexity region	304	316	N/A	INTRINSIC
S_TKc	491	746	6.93e-91	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000121972
AA Change: L281*

SMART Domains

Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: L281*

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
low complexity region	241	253	N/A	INTRINSIC
S_TKc	428	683	6.93e-91	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000122452
AA Change: L211*

SMART Domains

Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: L211*

Domain	Start	End	E-Value	Type
low complexity region	171	183	N/A	INTRINSIC
S_TKc	358	613	6.93e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138825

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cardiac hypertrophy, reduced cardiac function and increased response of heart to induced stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009L18Rik	T	C	11: 120,350,947		probably benign	Het
Alpk2	A	T	18: 65,291,534		probably benign	Het
Angptl8	T	C	9: 21,837,053		probably benign	Het
AU040320	T	A	4: 126,828,839	D383E	probably benign	Het
Cep97	C	T	16: 55,924,960		probably benign	Het
Clcn4	A	T	7: 7,287,673	L649H	probably damaging	Het
Col5a2	T	C	1: 45,376,739	N1416S	probably benign	Het
Erbb2	C	T	11: 98,435,630	P1027S	probably damaging	Het
Eya1	A	G	1: 14,270,701		probably benign	Het
Gfm2	T	C	13: 97,162,977	I402T	probably benign	Het
Gmeb2	A	T	2: 181,259,043	V187E	probably benign	Het
Hectd1	T	C	12: 51,791,390	H662R	possibly damaging	Het
Ifne	T	C	4: 88,880,031	Q50R	probably benign	Het
Kidins220	A	G	12: 25,057,474	D1642G	probably damaging	Het
Klhl32	T	A	4: 24,682,245	D146V	probably damaging	Het
Krt36	T	C	11: 100,102,948	I355V	probably damaging	Het
Lrrcc1	T	A	3: 14,536,128	S73R	possibly damaging	Het
Ltbp3	A	T	19: 5,754,019	H853L	probably benign	Het
Map3k5	G	A	10: 20,141,567	R1369Q	probably damaging	Het
Mcm8	A	G	2: 132,821,406	N148S	probably benign	Het
Nras	T	C	3: 103,058,916		probably benign	Het
Olfr135	A	T	17: 38,208,982	I246F	probably damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Os9	A	T	10: 127,120,509	Y66N	probably damaging	Het
Pitpnm1	A	G	19: 4,101,228	D15G	possibly damaging	Het
Reg3a	A	T	6: 78,382,301	R95*	probably null	Het
Rnf17	C	T	14: 56,512,271	P1425S	probably damaging	Het
Smad2	T	C	18: 76,299,775		probably benign	Het
Ttll5	C	T	12: 85,933,482	Q76*	probably null	Het
Uri1	A	T	7: 37,996,731		probably benign	Het
Vmn2r102	G	T	17: 19,678,923		probably null	Het
Vmn2r70	T	G	7: 85,563,799	M467L	probably benign	Het
Zfp318	T	A	17: 46,413,726	D2218E	possibly damaging	Het
Zfp692	T	C	11: 58,314,029	I405T	possibly damaging	Het
Zfp692	A	G	11: 58,309,998	H235R	possibly damaging	Het

Other mutations in Mylk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01088:Mylk3	APN	8	85351957	splice site	probably null
IGL01431:Mylk3	APN	8	85336401	missense	probably damaging	1.00
IGL01488:Mylk3	APN	8	85352027	missense	probably damaging	1.00
IGL01550:Mylk3	APN	8	85365089	missense	probably damaging	1.00
IGL01786:Mylk3	APN	8	85359317	missense	probably benign	0.27
IGL01877:Mylk3	APN	8	85359042	missense	possibly damaging	0.66
IGL01995:Mylk3	APN	8	85359261	missense	possibly damaging	0.83
IGL02003:Mylk3	APN	8	85359098	missense	probably benign
IGL02251:Mylk3	APN	8	85355176	missense	probably benign	0.04
IGL02252:Mylk3	APN	8	85355476	missense	probably benign	0.04
IGL02341:Mylk3	APN	8	85351972	missense	probably damaging	1.00
IGL02352:Mylk3	APN	8	85355302	missense	probably benign	0.00
IGL02359:Mylk3	APN	8	85355302	missense	probably benign	0.00
IGL03000:Mylk3	APN	8	85359177	missense	probably damaging	0.97
IGL03185:Mylk3	APN	8	85327204	missense	probably damaging	0.97
IGL03404:Mylk3	APN	8	85342681	missense	probably damaging	1.00
R0005:Mylk3	UTSW	8	85327203	missense	possibly damaging	0.93
R0219:Mylk3	UTSW	8	85355244	missense	probably damaging	0.99
R0324:Mylk3	UTSW	8	85352906	missense	probably damaging	0.98
R0402:Mylk3	UTSW	8	85352910	missense	probably damaging	1.00
R0667:Mylk3	UTSW	8	85355165	critical splice donor site	probably null
R1711:Mylk3	UTSW	8	85364831	missense	probably damaging	1.00
R1857:Mylk3	UTSW	8	85328594	missense	probably damaging	0.98
R1875:Mylk3	UTSW	8	85352865	missense	probably damaging	1.00
R1878:Mylk3	UTSW	8	85355399	missense	possibly damaging	0.82
R1916:Mylk3	UTSW	8	85327192	missense	probably damaging	1.00
R3887:Mylk3	UTSW	8	85352047	missense	probably damaging	1.00
R4081:Mylk3	UTSW	8	85328682	missense	probably damaging	1.00
R4775:Mylk3	UTSW	8	85359060	nonsense	probably null
R4796:Mylk3	UTSW	8	85350385	missense	probably damaging	1.00
R4974:Mylk3	UTSW	8	85364783	missense	probably damaging	0.97
R5108:Mylk3	UTSW	8	85359092	missense	possibly damaging	0.83
R5194:Mylk3	UTSW	8	85352866	missense	probably benign	0.26
R5276:Mylk3	UTSW	8	85355442	missense	probably damaging	1.00
R5296:Mylk3	UTSW	8	85355431	missense	possibly damaging	0.66
R5303:Mylk3	UTSW	8	85350476	missense	probably damaging	1.00
R5338:Mylk3	UTSW	8	85342721	missense	probably damaging	1.00
R5957:Mylk3	UTSW	8	85328637	missense	probably damaging	0.98
R6021:Mylk3	UTSW	8	85364813	missense	possibly damaging	0.92
R6294:Mylk3	UTSW	8	85350383	missense	probably damaging	1.00
R6305:Mylk3	UTSW	8	85350419	missense	probably damaging	1.00
R6376:Mylk3	UTSW	8	85358942	missense	possibly damaging	0.53
R6970:Mylk3	UTSW	8	85359263	missense	probably damaging	0.97
R7081:Mylk3	UTSW	8	85364793	missense	probably benign	0.10
R7170:Mylk3	UTSW	8	85350485	missense	probably damaging	1.00
R7318:Mylk3	UTSW	8	85359097	missense	probably benign
R7422:Mylk3	UTSW	8	85355244	missense	probably benign	0.16
R7503:Mylk3	UTSW	8	85353589	missense	probably benign	0.00
R7536:Mylk3	UTSW	8	85353604	missense	probably benign	0.05
Z1176:Mylk3	UTSW	8	85365179
Z1177:Mylk3	UTSW	8	85359194	missense	probably benign	0.14
Z1177:Mylk3	UTSW	8	85365179

Posted On

2013-04-17