Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01088:Mylk3'

51742

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mylk3

Ensembl Gene

ENSMUSG00000031698

Gene Name

myosin light chain kinase 3

Synonyms

D830007F02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

IGL01088

Quality Score

Status

Chromosome

Chromosomal Location

86050933-86112969 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to C at 86078586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113389 (fasta)

Gene Model

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

AlphaFold

Q3UIZ8

Predicted Effect

probably null
Transcript: ENSMUST00000034133

SMART Domains

Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698

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

SMART Domains

Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698

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

SMART Domains

Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr6	C	T	10: 89,561,703 (GRCm39)	V148I	probably damaging	Het
Aspn	G	T	13: 49,720,029 (GRCm39)	K348N	probably benign	Het
C1qtnf9	T	C	14: 61,017,205 (GRCm39)	V245A	probably benign	Het
Cfhr4	T	C	1: 139,625,823 (GRCm39)		probably benign	Het
Chd4	T	C	6: 125,099,431 (GRCm39)		probably benign	Het
Clcn3	A	T	8: 61,390,381 (GRCm39)	C187S	probably damaging	Het
Dcxr	T	C	11: 120,616,993 (GRCm39)	I123M	possibly damaging	Het
Fstl1	T	C	16: 37,647,175 (GRCm39)	Y182H	probably damaging	Het
Ghrhr	T	C	6: 55,356,178 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,228,627 (GRCm39)	E1176G	probably damaging	Het
H2-T22	A	G	17: 36,352,811 (GRCm39)	S99P	probably damaging	Het
Igkv4-79	T	A	6: 69,020,110 (GRCm39)	K68N	probably damaging	Het
Kpna6	C	T	4: 129,549,276 (GRCm39)	V169I	probably damaging	Het
Krit1	G	T	5: 3,862,844 (GRCm39)	V278F	probably damaging	Het
Mrpl4	T	C	9: 20,914,627 (GRCm39)	S68P	probably damaging	Het
Nfasc	A	T	1: 132,570,514 (GRCm39)		probably benign	Het
Ntsr1	T	C	2: 180,184,335 (GRCm39)	F346S	probably damaging	Het
Or10ak11	A	G	4: 118,686,989 (GRCm39)	V216A	probably benign	Het
Or5b107	T	C	19: 13,142,735 (GRCm39)	M119T	probably damaging	Het
Phox2a	T	C	7: 101,470,942 (GRCm39)	F145L	probably damaging	Het
Rbm7	A	G	9: 48,402,149 (GRCm39)	V146A	probably damaging	Het
Sall3	A	T	18: 81,016,447 (GRCm39)	Y494N	probably damaging	Het
Ssbp1	T	A	6: 40,455,004 (GRCm39)		probably benign	Het
Stard7	T	C	2: 127,112,746 (GRCm39)	L4P	probably damaging	Het
Stk-ps2	A	T	1: 46,069,010 (GRCm39)		noncoding transcript	Het
Tmem67	G	A	4: 12,063,126 (GRCm39)	R507C	probably damaging	Het
Unc13c	A	T	9: 73,839,563 (GRCm39)	D429E	possibly damaging	Het
Unc93b1	A	G	19: 3,985,356 (GRCm39)		probably null	Het
Vmn1r171	T	C	7: 23,332,252 (GRCm39)	V159A	probably damaging	Het
Zfp608	T	C	18: 55,031,159 (GRCm39)	E927G	probably benign	Het
Zfp820	T	A	17: 22,040,162 (GRCm39)	K16*	probably null	Het
Zgrf1	T	C	3: 127,381,790 (GRCm39)		probably benign	Het

Other mutations in Mylk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Mylk3	APN	8	86,082,155 (GRCm39)	nonsense	probably null
IGL01431:Mylk3	APN	8	86,063,030 (GRCm39)	missense	probably damaging	1.00
IGL01488:Mylk3	APN	8	86,078,656 (GRCm39)	missense	probably damaging	1.00
IGL01550:Mylk3	APN	8	86,091,718 (GRCm39)	missense	probably damaging	1.00
IGL01786:Mylk3	APN	8	86,085,946 (GRCm39)	missense	probably benign	0.27
IGL01877:Mylk3	APN	8	86,085,671 (GRCm39)	missense	possibly damaging	0.66
IGL01995:Mylk3	APN	8	86,085,890 (GRCm39)	missense	possibly damaging	0.83
IGL02003:Mylk3	APN	8	86,085,727 (GRCm39)	missense	probably benign
IGL02251:Mylk3	APN	8	86,081,805 (GRCm39)	missense	probably benign	0.04
IGL02252:Mylk3	APN	8	86,082,105 (GRCm39)	missense	probably benign	0.04
IGL02341:Mylk3	APN	8	86,078,601 (GRCm39)	missense	probably damaging	1.00
IGL02352:Mylk3	APN	8	86,081,931 (GRCm39)	missense	probably benign	0.00
IGL02359:Mylk3	APN	8	86,081,931 (GRCm39)	missense	probably benign	0.00
IGL03000:Mylk3	APN	8	86,085,806 (GRCm39)	missense	probably damaging	0.97
IGL03185:Mylk3	APN	8	86,053,833 (GRCm39)	missense	probably damaging	0.97
IGL03404:Mylk3	APN	8	86,069,310 (GRCm39)	missense	probably damaging	1.00
R0005:Mylk3	UTSW	8	86,053,832 (GRCm39)	missense	possibly damaging	0.93
R0219:Mylk3	UTSW	8	86,081,873 (GRCm39)	missense	probably damaging	0.99
R0324:Mylk3	UTSW	8	86,079,535 (GRCm39)	missense	probably damaging	0.98
R0402:Mylk3	UTSW	8	86,079,539 (GRCm39)	missense	probably damaging	1.00
R0667:Mylk3	UTSW	8	86,081,794 (GRCm39)	critical splice donor site	probably null
R1711:Mylk3	UTSW	8	86,091,460 (GRCm39)	missense	probably damaging	1.00
R1857:Mylk3	UTSW	8	86,055,223 (GRCm39)	missense	probably damaging	0.98
R1875:Mylk3	UTSW	8	86,079,494 (GRCm39)	missense	probably damaging	1.00
R1878:Mylk3	UTSW	8	86,082,028 (GRCm39)	missense	possibly damaging	0.82
R1916:Mylk3	UTSW	8	86,053,821 (GRCm39)	missense	probably damaging	1.00
R3887:Mylk3	UTSW	8	86,078,676 (GRCm39)	missense	probably damaging	1.00
R4081:Mylk3	UTSW	8	86,055,311 (GRCm39)	missense	probably damaging	1.00
R4775:Mylk3	UTSW	8	86,085,689 (GRCm39)	nonsense	probably null
R4796:Mylk3	UTSW	8	86,077,014 (GRCm39)	missense	probably damaging	1.00
R4974:Mylk3	UTSW	8	86,091,412 (GRCm39)	missense	probably damaging	0.97
R5108:Mylk3	UTSW	8	86,085,721 (GRCm39)	missense	possibly damaging	0.83
R5194:Mylk3	UTSW	8	86,079,495 (GRCm39)	missense	probably benign	0.26
R5276:Mylk3	UTSW	8	86,082,071 (GRCm39)	missense	probably damaging	1.00
R5296:Mylk3	UTSW	8	86,082,060 (GRCm39)	missense	possibly damaging	0.66
R5303:Mylk3	UTSW	8	86,077,105 (GRCm39)	missense	probably damaging	1.00
R5338:Mylk3	UTSW	8	86,069,350 (GRCm39)	missense	probably damaging	1.00
R5957:Mylk3	UTSW	8	86,055,266 (GRCm39)	missense	probably damaging	0.98
R6021:Mylk3	UTSW	8	86,091,442 (GRCm39)	missense	possibly damaging	0.92
R6294:Mylk3	UTSW	8	86,077,012 (GRCm39)	missense	probably damaging	1.00
R6305:Mylk3	UTSW	8	86,077,048 (GRCm39)	missense	probably damaging	1.00
R6376:Mylk3	UTSW	8	86,085,571 (GRCm39)	missense	possibly damaging	0.53
R6970:Mylk3	UTSW	8	86,085,892 (GRCm39)	missense	probably damaging	0.97
R7081:Mylk3	UTSW	8	86,091,422 (GRCm39)	missense	probably benign	0.10
R7170:Mylk3	UTSW	8	86,077,114 (GRCm39)	missense	probably damaging	1.00
R7318:Mylk3	UTSW	8	86,085,726 (GRCm39)	missense	probably benign
R7422:Mylk3	UTSW	8	86,081,873 (GRCm39)	missense	probably benign	0.16
R7503:Mylk3	UTSW	8	86,080,218 (GRCm39)	missense	probably benign	0.00
R7536:Mylk3	UTSW	8	86,080,233 (GRCm39)	missense	probably benign	0.05
R8556:Mylk3	UTSW	8	86,053,902 (GRCm39)	missense	possibly damaging	0.78
R8731:Mylk3	UTSW	8	86,085,634 (GRCm39)	missense	probably benign	0.01
R8770:Mylk3	UTSW	8	86,091,460 (GRCm39)	missense	probably damaging	1.00
R8804:Mylk3	UTSW	8	86,085,874 (GRCm39)	missense	probably benign	0.10
R9064:Mylk3	UTSW	8	86,081,940 (GRCm39)	missense	probably benign
R9296:Mylk3	UTSW	8	86,085,561 (GRCm39)	missense	probably benign	0.01
R9418:Mylk3	UTSW	8	86,091,444 (GRCm39)	missense	possibly damaging	0.67
Z1176:Mylk3	UTSW	8	86,091,808 (GRCm39)
Z1177:Mylk3	UTSW	8	86,091,808 (GRCm39)
Z1177:Mylk3	UTSW	8	86,085,823 (GRCm39)	missense	probably benign	0.14

Posted On

2013-06-21