Mutagenetix > Incidental Mutations

Incidental Mutation 'R1878:Mylk3'

211312

Institutional Source

Beutler Lab

Gene Symbol

Mylk3

Ensembl Gene

ENSMUSG00000031698

Gene Name

myosin light chain kinase 3

Synonyms

MMRRC Submission

039899-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R1878 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85324303-85386345 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85355399 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 323 (N323K)

Ref Sequence

ENSEMBL: ENSMUSP00000113960 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034133
AA Change: N386K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: N386K

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: N323K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: N323K

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: N253K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: N253K

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,514,638		probably null	Het
Abcb9	A	G	5: 124,090,136	V14A	probably benign	Het
Adcy4	T	C	14: 55,769,905	D950G	probably damaging	Het
Ahctf1	T	C	1: 179,775,509	D828G	possibly damaging	Het
Ak2	T	A	4: 129,002,167	V79D	probably damaging	Het
Arhgap29	T	C	3: 122,011,371	Y870H	probably damaging	Het
Arid4a	A	G	12: 71,087,589	K1222E	probably damaging	Het
Armc1	A	T	3: 19,157,544	D37E	probably damaging	Het
Cenpm	A	T	15: 82,234,415	M166K	probably benign	Het
Cep97	G	T	16: 55,905,226	P766Q	probably damaging	Het
Col19a1	G	T	1: 24,317,395	D672E	probably benign	Het
Col6a2	T	C	10: 76,614,788	D103G	probably benign	Het
Ddi2	T	C	4: 141,684,149	E484G	probably benign	Het
Dph1	T	C	11: 75,184,227	D100G	probably damaging	Het
Dsp	A	T	13: 38,164,855	I100F	possibly damaging	Het
Fam222b	T	C	11: 78,143,216		probably null	Het
Folh1	A	T	7: 86,771,742	H126Q	probably benign	Het
Gapvd1	A	T	2: 34,725,200	D428E	probably benign	Het
Gm11564	A	T	11: 99,815,440	C55S	unknown	Het
Gm14139	T	A	2: 150,193,069	C437S	probably damaging	Het
Gne	T	C	4: 44,040,434	I577V	probably damaging	Het
Gpr4	A	G	7: 19,223,124	T324A	probably damaging	Het
Hhipl1	A	T	12: 108,320,060	N542I	possibly damaging	Het
Ice2	T	C	9: 69,428,576		probably null	Het
Irgm1	C	T	11: 48,866,070	V305I	probably benign	Het
Itgal	C	A	7: 127,310,671	Q73K	probably benign	Het
Jcad	C	A	18: 4,673,857	H540N	possibly damaging	Het
Jkamp	T	A	12: 72,094,104	V141D	possibly damaging	Het
Lrrc9	T	C	12: 72,476,164		probably null	Het
Mcc	T	C	18: 44,468,400	R621G	possibly damaging	Het
Myd88	T	A	9: 119,338,620	Q140L	probably benign	Het
Myrip	C	T	9: 120,424,655	R265W	probably damaging	Het
N4bp1	A	T	8: 86,861,541	S256R	probably damaging	Het
Nhsl1	T	G	10: 18,524,279	S418A	probably damaging	Het
Nlrp9b	A	G	7: 20,028,564	T269A	probably benign	Het
Nmt1	A	G	11: 103,052,251	N144S	probably benign	Het
Npvf	G	A	6: 50,654,323	T24I	probably benign	Het
Obscn	T	G	11: 58,995,553	Y2347S	probably damaging	Het
Olfr1202	A	G	2: 88,817,461	T97A	probably benign	Het
Olfr125	T	C	17: 37,835,362	V121A	probably benign	Het
Olfr135	T	C	17: 38,208,374	I43T	probably benign	Het
Olfr170	G	T	16: 19,605,751	Q306K	probably benign	Het
Olfr345	G	T	2: 36,640,189	R50M	possibly damaging	Het
Olfr624	A	C	7: 103,670,182	M283R	probably damaging	Het
Olfr8	T	A	10: 78,955,805	M200K	possibly damaging	Het
Olfr975	T	A	9: 39,950,757	T5S	probably benign	Het
Osgin2	A	T	4: 16,005,493	V131D	probably damaging	Het
Pcdhac2	A	T	18: 37,145,162	K398N	possibly damaging	Het
Pcnp	A	T	16: 56,018,487	M143K	probably damaging	Het
Ppp3ca	A	G	3: 136,797,878	I71V	probably benign	Het
Ppp4c	G	T	7: 126,787,607	R103S	probably damaging	Het
Prl2c2	T	A	13: 13,005,326	M1L	probably damaging	Het
Recql5	A	T	11: 115,895,101	D615E	probably benign	Het
Robo3	T	C	9: 37,422,165	E728G	probably damaging	Het
Rps27l	T	A	9: 66,947,629		probably null	Het
Scube3	T	A	17: 28,152,413	V34E	probably benign	Het
Sez6l	A	G	5: 112,475,223	I154T	probably damaging	Het
Sgsm1	G	A	5: 113,263,515	L782F	probably damaging	Het
Slc35c1	A	G	2: 92,459,053	V36A	probably benign	Het
Snapc4	A	G	2: 26,376,153		probably null	Het
Sohlh2	C	A	3: 55,207,643	R350S	probably damaging	Het
Spag1	G	A	15: 36,181,770	E25K	probably damaging	Het
Sspo	G	A	6: 48,459,366	A1217T	possibly damaging	Het
Stil	T	C	4: 115,041,226	S1018P	probably damaging	Het
Strn	T	C	17: 78,677,326	E117G	possibly damaging	Het
Syt17	A	T	7: 118,434,245	M180K	probably benign	Het
Trem1	T	C	17: 48,241,488	S18P	possibly damaging	Het
Tsta3	A	G	15: 75,925,369	S306P	probably benign	Het
Umad1	T	A	6: 8,427,181	F145I	probably damaging	Het
Unc80	A	C	1: 66,509,402	H611P	probably damaging	Het
Zfp709	A	G	8: 71,890,047	E440G	probably damaging	Het
Zfp764	C	A	7: 127,405,042	A306S	probably benign	Het
Zfp949	T	A	9: 88,569,303	S309T	probably damaging	Het
Zswim4	T	C	8: 84,212,776	N826D	possibly 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
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

Predicted Primers

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

Sequencing Primer
(F):5'- AGTTCTTCCTGGGCCCTGG -3'
(R):5'- TGTTTTGAACCTCAGGACCG -3'

Posted On

2014-06-30