Mutagenetix > Incidental Mutation

Incidental Mutation 'R4003:Mylk'

311362

Institutional Source

Beutler Lab

Gene Symbol

Mylk

Ensembl Gene

ENSMUSG00000022836

Gene Name

myosin, light polypeptide kinase

Synonyms

Mlck, nmMlck, telokin, A930019C19Rik, 9530072E15Rik, MLCK108, MLCK210

MMRRC Submission

040945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4003 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34745210-35002420 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34963577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 1371 (A1371D)

Ref Sequence

ENSEMBL: ENSMUSP00000023538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023538]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023538
AA Change: A1371D

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023538
Gene: ENSMUSG00000022836
AA Change: A1371D

Domain	Start	End	E-Value	Type
IGc2	54	122	9.05e-11	SMART
IGc2	177	244	3.94e-11	SMART
Pfam:23ISL	255	409	3.6e-60	PFAM
IGc2	423	491	1.55e-9	SMART
IGc2	523	587	3.32e-18	SMART
IGc2	632	699	6.02e-7	SMART
IGc2	730	798	1.36e-5	SMART
low complexity region	827	844	N/A	INTRINSIC
IGc2	1141	1208	2.42e-11	SMART
low complexity region	1251	1269	N/A	INTRINSIC
IG	1275	1359	4.56e-7	SMART
FN3	1362	1444	2.33e-11	SMART
low complexity region	1457	1479	N/A	INTRINSIC
S_TKc	1495	1750	4.23e-95	SMART
IGc2	1852	1920	5.92e-15	SMART
low complexity region	1934	1950	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231694

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232482

Meta Mutation Damage Score

0.3355

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

Validation Efficiency

98% (42/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that lack the isoform abundant in endothelial cells show a reduced susceptibility to acute lung injury. Mice lacking the smooth muscle isoform exhibit partial pre- or neonatal lethality, short small intestine and impaired smooth muscle contraction in the colon. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	T	C	X: 89,930,510	I694V	probably benign	Het
9330182L06Rik	A	C	5: 9,440,877	E629A	probably benign	Het
Adgrf4	A	T	17: 42,669,759	I145N	probably damaging	Het
Adgrv1	GA	GAA	13: 81,540,132		probably null	Het
Bmp8b	T	A	4: 123,121,878		probably benign	Het
Cdhr2	A	T	13: 54,718,266	E293V	probably benign	Het
Cerkl	C	A	2: 79,428,794	R33L	possibly damaging	Het
Chd9	C	T	8: 90,956,557	R542C	probably damaging	Het
Csnk2a1	A	G	2: 152,250,575	E22G	probably damaging	Het
Dnah7c	A	G	1: 46,681,817	K2834E	probably damaging	Het
Eftud2	C	T	11: 102,860,110	E286K	possibly damaging	Het
Fam222b	C	T	11: 78,154,929	P439S	probably benign	Het
Gm498	A	T	7: 143,897,303	M350L	probably benign	Het
Gsn	A	G	2: 35,283,983	K35E	probably benign	Het
Hif3a	T	A	7: 17,044,919	Q358H	probably damaging	Het
L3hypdh	T	C	12: 72,085,116	D14G	probably benign	Het
Map2	T	C	1: 66,415,740	I1263T	probably damaging	Het
Mrgprx3-ps	T	C	7: 47,310,211	T11A	probably benign	Het
Myo1b	A	G	1: 51,799,530		probably null	Het
Olfr855	T	G	9: 19,584,714	M59R	probably damaging	Het
Pkp3	A	G	7: 141,088,737		probably null	Het
Ptprt	A	G	2: 161,566,117		probably benign	Het
Rabep1	T	A	11: 70,917,367	M340K	probably benign	Het
Scn10a	T	C	9: 119,608,968	D1945G	probably null	Het
Slc22a2	A	T	17: 12,612,450	I376F	probably benign	Het
Slc34a1	T	C	13: 55,402,661		probably benign	Het
Smc2	T	C	4: 52,462,897	V629A	probably damaging	Het
Stab2	G	T	10: 86,858,124	D633E	probably damaging	Het
Tmco3	G	A	8: 13,291,959	V78M	probably damaging	Het
Tnfaip2	C	T	12: 111,451,344		probably benign	Het
Tnfrsf25	T	C	4: 152,119,601	M333T	probably damaging	Het
Triobp	A	G	15: 78,959,977		probably benign	Het
Zbbx	C	T	3: 75,105,671	G151E	probably damaging	Het
Zfp236	A	T	18: 82,680,745	C70*	probably null	Het
Zfp384	T	C	6: 125,033,237		probably benign	Het
Zfp619	A	G	7: 39,537,306	E920G	possibly damaging	Het
Zhx3	G	A	2: 160,780,889	P453S	probably damaging	Het

Other mutations in Mylk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01384:Mylk	APN	16	34,938,952 (GRCm38)	missense	probably benign	0.36
IGL01386:Mylk	APN	16	34,971,240 (GRCm38)	critical splice acceptor site	probably null
IGL01684:Mylk	APN	16	34,971,940 (GRCm38)	missense	possibly damaging	0.55
IGL01884:Mylk	APN	16	34,988,877 (GRCm38)	splice site	probably benign
IGL02079:Mylk	APN	16	34,860,631 (GRCm38)	missense	possibly damaging	0.87
IGL02104:Mylk	APN	16	34,815,435 (GRCm38)	missense	probably benign	0.06
IGL02624:Mylk	APN	16	34,929,896 (GRCm38)	missense	probably benign	0.29
IGL02756:Mylk	APN	16	34,963,646 (GRCm38)	missense	probably benign	0.42
IGL02794:Mylk	APN	16	34,986,541 (GRCm38)	missense	probably benign	0.21
IGL02833:Mylk	APN	16	34,914,900 (GRCm38)	missense	probably benign	0.01
IGL02946:Mylk	APN	16	34,921,788 (GRCm38)	missense	probably benign	0.10
IGL03012:Mylk	APN	16	34,952,781 (GRCm38)	missense	probably benign	0.03
IGL03093:Mylk	APN	16	34,912,192 (GRCm38)	missense	possibly damaging	0.62
IGL03272:Mylk	APN	16	34,979,189 (GRCm38)	missense	probably benign	0.09
billy	UTSW	16	34,875,620 (GRCm38)	missense	probably damaging	0.97
brutus	UTSW	16	34,953,695 (GRCm38)	missense	probably benign	0.12
Club	UTSW	16	34,912,275 (GRCm38)	nonsense	probably null
popeye	UTSW	16	34,963,577 (GRCm38)	missense	probably benign	0.29
F5770:Mylk	UTSW	16	34,995,204 (GRCm38)	critical splice donor site	probably null
P4717OSA:Mylk	UTSW	16	34,977,113 (GRCm38)	splice site	probably benign
PIT4382001:Mylk	UTSW	16	34,875,642 (GRCm38)	missense	probably damaging	0.99
R0131:Mylk	UTSW	16	34,875,504 (GRCm38)	missense	probably benign	0.03
R0309:Mylk	UTSW	16	34,912,297 (GRCm38)	splice site	probably benign
R0358:Mylk	UTSW	16	34,879,475 (GRCm38)	missense	possibly damaging	0.74
R0381:Mylk	UTSW	16	34,784,974 (GRCm38)	splice site	probably null
R0390:Mylk	UTSW	16	34,875,620 (GRCm38)	missense	probably damaging	0.97
R0413:Mylk	UTSW	16	34,921,944 (GRCm38)	missense	probably benign	0.01
R0536:Mylk	UTSW	16	35,000,387 (GRCm38)	missense	possibly damaging	0.95
R0544:Mylk	UTSW	16	34,879,475 (GRCm38)	missense	possibly damaging	0.74
R0545:Mylk	UTSW	16	34,879,475 (GRCm38)	missense	possibly damaging	0.74
R0546:Mylk	UTSW	16	34,879,475 (GRCm38)	missense	possibly damaging	0.74
R0547:Mylk	UTSW	16	34,879,475 (GRCm38)	missense	possibly damaging	0.74
R0548:Mylk	UTSW	16	34,879,475 (GRCm38)	missense	possibly damaging	0.74
R0627:Mylk	UTSW	16	35,000,429 (GRCm38)	missense	probably damaging	1.00
R0726:Mylk	UTSW	16	34,879,475 (GRCm38)	missense	possibly damaging	0.74
R0755:Mylk	UTSW	16	34,879,475 (GRCm38)	missense	possibly damaging	0.74
R0782:Mylk	UTSW	16	34,879,475 (GRCm38)	missense	possibly damaging	0.74
R0783:Mylk	UTSW	16	34,879,475 (GRCm38)	missense	possibly damaging	0.74
R0784:Mylk	UTSW	16	34,879,475 (GRCm38)	missense	possibly damaging	0.74
R1136:Mylk	UTSW	16	35,000,318 (GRCm38)	missense	probably damaging	1.00
R1170:Mylk	UTSW	16	34,874,039 (GRCm38)	missense	probably benign	0.20
R1222:Mylk	UTSW	16	34,860,652 (GRCm38)	missense	probably benign	0.12
R1445:Mylk	UTSW	16	34,815,465 (GRCm38)	missense	possibly damaging	0.57
R1583:Mylk	UTSW	16	34,875,586 (GRCm38)	missense	probably benign	0.29
R1618:Mylk	UTSW	16	34,879,475 (GRCm38)	missense	possibly damaging	0.74
R1643:Mylk	UTSW	16	34,875,635 (GRCm38)	missense	probably benign	0.03
R1702:Mylk	UTSW	16	34,921,944 (GRCm38)	missense	probably benign	0.00
R1776:Mylk	UTSW	16	34,952,782 (GRCm38)	missense	probably benign	0.16
R1865:Mylk	UTSW	16	34,912,230 (GRCm38)	missense	probably benign	0.03
R1975:Mylk	UTSW	16	34,880,303 (GRCm38)	splice site	probably null
R2016:Mylk	UTSW	16	34,996,817 (GRCm38)	missense	probably damaging	1.00
R2045:Mylk	UTSW	16	34,953,653 (GRCm38)	missense	probably benign	0.29
R2134:Mylk	UTSW	16	34,986,476 (GRCm38)	missense	probably benign	0.13
R3547:Mylk	UTSW	16	34,880,168 (GRCm38)	missense	possibly damaging	0.61
R3844:Mylk	UTSW	16	34,921,877 (GRCm38)	missense	probably benign	0.01
R4396:Mylk	UTSW	16	34,912,275 (GRCm38)	nonsense	probably null
R4470:Mylk	UTSW	16	34,912,152 (GRCm38)	missense	probably benign	0.09
R4507:Mylk	UTSW	16	34,953,695 (GRCm38)	missense	probably benign	0.12
R4700:Mylk	UTSW	16	34,922,435 (GRCm38)	missense	probably benign	0.16
R4751:Mylk	UTSW	16	34,879,169 (GRCm38)	missense	probably benign	0.29
R4815:Mylk	UTSW	16	34,894,925 (GRCm38)	missense	probably damaging	0.97
R4832:Mylk	UTSW	16	34,922,367 (GRCm38)	missense	probably benign	0.36
R4872:Mylk	UTSW	16	34,914,990 (GRCm38)	missense	possibly damaging	0.89
R4953:Mylk	UTSW	16	34,988,961 (GRCm38)	missense	probably damaging	1.00
R4969:Mylk	UTSW	16	34,971,440 (GRCm38)	missense	probably damaging	0.96
R5009:Mylk	UTSW	16	34,899,507 (GRCm38)	missense	probably benign	0.39
R5130:Mylk	UTSW	16	34,988,997 (GRCm38)	missense	probably damaging	1.00
R5173:Mylk	UTSW	16	34,977,013 (GRCm38)	missense	probably benign	0.40
R5195:Mylk	UTSW	16	34,979,215 (GRCm38)	missense	probably damaging	1.00
R5209:Mylk	UTSW	16	34,922,625 (GRCm38)	missense	possibly damaging	0.55
R5311:Mylk	UTSW	16	34,921,757 (GRCm38)	missense	probably benign	0.01
R5418:Mylk	UTSW	16	34,912,230 (GRCm38)	missense	probably benign	0.02
R5481:Mylk	UTSW	16	34,921,604 (GRCm38)	missense	probably benign	0.09
R5590:Mylk	UTSW	16	34,879,352 (GRCm38)	missense	probably benign	0.29
R5603:Mylk	UTSW	16	34,956,492 (GRCm38)	missense	probably benign	0.06
R5823:Mylk	UTSW	16	34,894,947 (GRCm38)	critical splice donor site	probably null
R6290:Mylk	UTSW	16	34,894,843 (GRCm38)	missense	probably benign	0.39
R6351:Mylk	UTSW	16	34,921,971 (GRCm38)	missense	probably benign	0.01
R6365:Mylk	UTSW	16	34,860,591 (GRCm38)	missense	probably benign	0.12
R6490:Mylk	UTSW	16	34,929,867 (GRCm38)	missense	possibly damaging	0.74
R6723:Mylk	UTSW	16	34,929,888 (GRCm38)	missense	possibly damaging	0.74
R6864:Mylk	UTSW	16	34,874,150 (GRCm38)	missense	probably benign	0.03
R6908:Mylk	UTSW	16	34,880,273 (GRCm38)	missense	probably benign	0.18
R6949:Mylk	UTSW	16	35,000,318 (GRCm38)	missense	probably damaging	1.00
R7018:Mylk	UTSW	16	35,000,426 (GRCm38)	missense	possibly damaging	0.88
R7035:Mylk	UTSW	16	34,976,982 (GRCm38)	missense	possibly damaging	0.89
R7162:Mylk	UTSW	16	34,922,529 (GRCm38)	missense	probably damaging	1.00
R7236:Mylk	UTSW	16	34,922,529 (GRCm38)	missense	probably damaging	1.00
R7269:Mylk	UTSW	16	34,785,011 (GRCm38)	missense	probably damaging	0.96
R7475:Mylk	UTSW	16	34,914,076 (GRCm38)	splice site	probably null
R7525:Mylk	UTSW	16	34,988,987 (GRCm38)	missense	probably benign	0.06
R7587:Mylk	UTSW	16	34,922,517 (GRCm38)	missense	probably benign	0.29
R7607:Mylk	UTSW	16	34,894,814 (GRCm38)	missense	probably benign	0.09
R7616:Mylk	UTSW	16	34,879,557 (GRCm38)	missense	probably damaging	0.97
R7647:Mylk	UTSW	16	34,879,524 (GRCm38)	missense	probably benign	0.29
R7648:Mylk	UTSW	16	34,879,524 (GRCm38)	missense	probably benign	0.29
R7764:Mylk	UTSW	16	34,922,183 (GRCm38)	missense	probably benign	0.16
R7890:Mylk	UTSW	16	34,963,648 (GRCm38)	nonsense	probably null
R7892:Mylk	UTSW	16	34,879,524 (GRCm38)	missense	probably benign	0.29
R7893:Mylk	UTSW	16	34,879,524 (GRCm38)	missense	probably benign	0.29
R8065:Mylk	UTSW	16	34,972,019 (GRCm38)	missense	probably benign	0.08
R8067:Mylk	UTSW	16	34,972,019 (GRCm38)	missense	probably benign	0.08
R8143:Mylk	UTSW	16	34,914,155 (GRCm38)	missense	possibly damaging	0.87
R8210:Mylk	UTSW	16	35,000,351 (GRCm38)	missense	probably damaging	1.00
R8271:Mylk	UTSW	16	34,922,579 (GRCm38)	missense	probably damaging	0.97
R8540:Mylk	UTSW	16	34,929,887 (GRCm38)	missense	possibly damaging	0.87
R8721:Mylk	UTSW	16	34,996,806 (GRCm38)	missense	probably damaging	1.00
R8743:Mylk	UTSW	16	34,921,057 (GRCm38)	missense	probably benign	0.03
R8798:Mylk	UTSW	16	34,899,402 (GRCm38)	missense	possibly damaging	0.89
R8956:Mylk	UTSW	16	34,971,409 (GRCm38)	missense	probably benign	0.01
R9131:Mylk	UTSW	16	34,956,465 (GRCm38)	missense	probably benign	0.29
R9403:Mylk	UTSW	16	34,875,642 (GRCm38)	nonsense	probably null
R9624:Mylk	UTSW	16	34,879,307 (GRCm38)	missense	probably benign	0.29
R9735:Mylk	UTSW	16	34,914,809 (GRCm38)	missense	probably benign	0.09
R9756:Mylk	UTSW	16	34,914,017 (GRCm38)	missense	probably damaging	0.96
R9763:Mylk	UTSW	16	34,879,112 (GRCm38)	nonsense	probably null
RF001:Mylk	UTSW	16	34,879,371 (GRCm38)	missense	probably benign	0.03
V7580:Mylk	UTSW	16	34,995,204 (GRCm38)	critical splice donor site	probably null
V7583:Mylk	UTSW	16	34,995,204 (GRCm38)	critical splice donor site	probably null
X0065:Mylk	UTSW	16	35,000,441 (GRCm38)	missense	probably damaging	1.00
Z1177:Mylk	UTSW	16	34,922,651 (GRCm38)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- ACTCACTACCCATGGCAGAG -3'
(R):5'- GGAATTTGTACTCGCGGTCAG -3'

Sequencing Primer
(F):5'- TACCCATGGCAGAGCTAATTAAAG -3'
(R):5'- TCAGGCAGCAGGTCTTGGAC -3'

Posted On

2015-04-29