Mutagenetix > Incidental Mutations

Incidental Mutation 'R6021:Mylk3'

478945

Institutional Source

Beutler Lab

Gene Symbol

Mylk3

Ensembl Gene

ENSMUSG00000031698

Gene Name

myosin light chain kinase 3

Synonyms

MMRRC Submission

044194-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R6021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85324303-85386345 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85364813 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 121 (V121A)

Ref Sequence

ENSEMBL: ENSMUSP00000034133 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034133
AA Change: V121A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: V121A

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 benign
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 benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000137290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138825

Meta Mutation Damage Score

0.0864

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

94% (61/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,061,082	T338A	probably damaging	Het
4933427I04Rik	A	G	4: 123,860,716	D141G	possibly damaging	Het
A1bg	T	C	15: 60,919,864	E241G	possibly damaging	Het
Abca13	G	A	11: 9,290,465	W776*	probably null	Het
Akr1b10	T	A	6: 34,392,374		probably null	Het
Atf7	T	C	15: 102,557,473	D84G	probably benign	Het
AW209491	C	T	13: 14,637,780	A406V	probably benign	Het
Azi2	T	A	9: 118,047,419	M1K	probably null	Het
Boc	T	A	16: 44,488,654	M832L	probably benign	Het
Brix1	C	T	15: 10,476,589	R267H	probably benign	Het
Cacna1s	T	C	1: 136,106,487	L1050P	probably benign	Het
Celsr2	G	T	3: 108,401,245	P1789T	probably benign	Het
Crebbp	G	A	16: 4,085,418	R1986C	probably damaging	Het
Crtam	T	A	9: 40,990,181	I150F	probably damaging	Het
Crybg1	G	T	10: 43,997,538	S1191R	probably damaging	Het
D630045J12Rik	T	C	6: 38,190,617	T1017A	probably benign	Het
Dnah10	A	G	5: 124,736,984	E396G	probably damaging	Het
Enpp5	A	T	17: 44,085,319	Y374F	probably benign	Het
Fzd4	G	A	7: 89,407,734	A330T	probably benign	Het
Gabra5	A	G	7: 57,507,992	S25P	probably benign	Het
Ggps1	T	C	13: 14,054,004	Y198C	probably damaging	Het
Gm13101	A	T	4: 143,965,766	C222S	probably benign	Het
Gm13762	G	T	2: 88,973,032	Y286*	probably null	Het
Gm3173	A	C	14: 4,514,873	D39A	probably damaging	Het
Gm4869	A	T	5: 140,469,679	M347L	probably damaging	Het
Grm2	T	C	9: 106,650,800	D295G	probably damaging	Het
H2-Bl	T	G	17: 36,081,274	E182A	probably damaging	Het
Igfbp5	A	G	1: 72,863,204	M208T	possibly damaging	Het
Ildr2	T	A	1: 166,303,604	M343K	possibly damaging	Het
Loxhd1	A	T	18: 77,412,250	D120V	probably damaging	Het
Lrp1	T	C	10: 127,578,014	D1175G	probably damaging	Het
Lrp1b	C	A	2: 41,344,427	D1171Y	probably benign	Het
Lrrc9	A	T	12: 72,469,231	I563F	probably damaging	Het
Ltbp3	A	T	19: 5,753,680	T798S	probably benign	Het
Msantd4	T	A	9: 4,384,063	V128E	probably benign	Het
Mtf2	A	G	5: 108,081,137	I69V	possibly damaging	Het
Myh10	T	A	11: 68,808,862	S1712T	possibly damaging	Het
Ndufaf4	A	G	4: 24,901,760	N100D	probably benign	Het
Notch2	T	C	3: 98,121,972	F1017S	probably damaging	Het
Olfr1197	G	T	2: 88,728,950	Y216*	probably null	Het
Olfr1253	A	C	2: 89,752,121	S236A	probably benign	Het
P2ry2	T	C	7: 100,998,400	T233A	probably benign	Het
Paip1	T	"TTA,TT"	13: 119,457,135		probably null	Het
Pak1	T	C	7: 97,854,463	S2P	probably damaging	Het
Pde8b	A	T	13: 95,026,162	D817E	possibly damaging	Het
Pfdn2	C	A	1: 171,345,770		probably benign	Het
Raver1	A	G	9: 21,076,622	L606P	probably damaging	Het
Robo3	C	T	9: 37,422,533	W668*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Rxfp2	A	G	5: 150,063,737	N337S	possibly damaging	Het
Samhd1	T	C	2: 157,120,554		probably null	Het
Sardh	A	G	2: 27,189,643	V879A	probably benign	Het
Slc4a4	A	T	5: 89,040,402		probably benign	Het
Slc6a11	T	C	6: 114,230,051	L332P	probably damaging	Het
Tas2r135	T	C	6: 42,406,387	Y287H	probably damaging	Het
Tlr4	T	A	4: 66,840,866	I632N	probably damaging	Het
Tmem145	C	T	7: 25,308,845		probably null	Het
Trmt61a	C	A	12: 111,680,977	F169L	probably damaging	Het
Trp53tg5	T	A	2: 164,471,471	I95L	probably benign	Het
Vmn1r85	T	C	7: 13,084,689	E176G	probably benign	Het
Vmn2r75	T	C	7: 86,171,612	D38G	probably benign	Het
Vmn2r99	A	G	17: 19,377,948	Y78C	probably damaging	Het
Wrb	T	C	16: 96,145,678		probably benign	Het
Zfp964	G	T	8: 69,663,092	S114I	unknown	Het

Other mutations in Mylk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Mylk3	APN	8	85355526	nonsense	probably null
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
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	85365179
Z1177:Mylk3	UTSW	8	85359194	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GAAACACTGTCTCCAGCTCTCC -3'
(R):5'- TGGAACAAGATCTGCATCGGC -3'

Sequencing Primer
(F):5'- TAAGAACCATTTCCTGTCCCAG -3'
(R):5'- CAAGATCTGCATCGGCTGGAG -3'

Posted On

2017-06-26