Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Mylk3'

405422

Institutional Source

Beutler Lab

Gene Symbol

Mylk3

Ensembl Gene

ENSMUSG00000031698

Gene Name

myosin light chain kinase 3

Synonyms

MMRRC Submission

042879-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85324303-85386345 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 85355431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 313 (F313V)

Ref Sequence

ENSEMBL: ENSMUSP00000113960 (fasta)

Gene Model

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

AlphaFold

Q3UIZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000034133
AA Change: F376V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: F376V

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

possibly damaging
Transcript: ENSMUST00000121972
AA Change: F313V

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: F313V

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
AA Change: F243V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: F243V

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

0.1795

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobr	A	C	7: 126,588,024	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,862,968		probably benign	Het
Cacna1s	G	A	1: 136,095,785	V674M	probably benign	Het
Cavin2	T	C	1: 51,289,870		probably null	Het
Cd300lb	T	C	11: 114,924,937	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,673,196	V132A	probably benign	Het
Ddi2	G	T	4: 141,684,765	Q279K	probably benign	Het
Dnah11	A	G	12: 117,883,416	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Epsti1	T	A	14: 77,904,650	H55Q	probably benign	Het
Flad1	T	C	3: 89,411,196	T17A	probably damaging	Het
Fzd2	C	T	11: 102,606,155	T475M	probably damaging	Het
Gemin5	C	A	11: 58,130,061	W1099L	probably damaging	Het
Gm8979	A	T	7: 106,081,848		noncoding transcript	Het
Gm9892	T	C	8: 52,196,929		noncoding transcript	Het
Gmeb2	A	G	2: 181,255,986		probably benign	Het
Grip1	A	G	10: 119,929,928	E55G	probably damaging	Het
Hltf	T	C	3: 20,108,112	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,241,939	Q902L	probably null	Het
Kcnt2	C	T	1: 140,609,615	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,436,127	N335K	possibly damaging	Het
Lama5	A	C	2: 180,193,801	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,724,582	S230A	probably benign	Het
Lmcd1	A	G	6: 112,315,588	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,774,482	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,991,738	I234N	probably damaging	Het
Mroh3	A	G	1: 136,196,323	S386P	probably damaging	Het
Myo9b	A	T	8: 71,333,388	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,605,745	S2G	unknown	Het
Olfr1269	A	T	2: 90,118,699	W300R	probably damaging	Het
Olfr136	C	T	17: 38,335,456	Q100*	probably null	Het
Olfr419	G	T	1: 174,250,756	T57K	possibly damaging	Het
Olfr908	T	C	9: 38,516,116	F28S	probably damaging	Het
Pkd1	T	C	17: 24,576,074	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,817,118	T1539I	possibly damaging	Het
Plch2	G	T	4: 154,989,999		probably null	Het
Pygm	G	A	19: 6,384,579	R34H	probably damaging	Het
Rgs12	T	C	5: 35,021,104		probably benign	Het
Ruvbl1	T	C	6: 88,485,908	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,026,731	Q104L	probably damaging	Het
Satb2	T	C	1: 56,796,907	E575G	probably damaging	Het
Sema6b	T	A	17: 56,127,091		probably null	Het
Slc25a11	T	C	11: 70,646,185	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,860,646	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,587,510	T906K	possibly damaging	Het
Thbd	A	T	2: 148,406,983	C322S	probably damaging	Het
Traf2	A	G	2: 25,520,440	L399P	probably damaging	Het
Troap	T	A	15: 99,078,817	V274D	probably damaging	Het
Utrn	G	A	10: 12,401,355	T3406M	probably damaging	Het
Uts2	G	T	4: 150,999,051	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,554,341	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 85,137,022	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,413	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,912,188	M51K	probably damaging	Het
Zfp60	T	A	7: 27,738,530		probably benign	Het
Zfp882	T	A	8: 71,914,360	F344I	probably damaging	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
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
R8556:Mylk3	UTSW	8	85327273	missense	possibly damaging	0.78
R8731:Mylk3	UTSW	8	85359005	missense	probably benign	0.01
R8770:Mylk3	UTSW	8	85364831	missense	probably damaging	1.00
R8804:Mylk3	UTSW	8	85359245	missense	probably benign	0.10
R9064:Mylk3	UTSW	8	85355311	missense	probably benign
R9296:Mylk3	UTSW	8	85358932	missense	probably benign	0.01
R9418:Mylk3	UTSW	8	85364815	missense	possibly damaging	0.67
Z1176:Mylk3	UTSW	8	85365179
Z1177:Mylk3	UTSW	8	85359194	missense	probably benign	0.14
Z1177:Mylk3	UTSW	8	85365179

Predicted Primers

PCR Primer
(F):5'- CAGCTTCAGTTCTTCCTGGG -3'
(R):5'- ATCCTTGTTTTGAACCTCAGGAC -3'

Sequencing Primer
(F):5'- TGGTCCTTCCCAGGCTCAG -3'
(R):5'- TGAACCTCAGGACCGTATTTC -3'

Posted On

2016-07-22