Mutagenetix > Incidental Mutation

Incidental Mutation 'R1643:Mylk'

173711

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

039679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1643 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34745210-35002420 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34875635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 247 (S247P)

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: S247P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023538
Gene: ENSMUSG00000022836
AA Change: S247P

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: ENSMUST00000155268

Meta Mutation Damage Score

0.1547

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.5%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,907,078 (GRCm38)	K45*	probably null	Het
Abcc1	T	A	16: 14,413,368 (GRCm38)	Y457N	probably damaging	Het
Actr3b	A	G	5: 25,812,011 (GRCm38)	D19G	probably damaging	Het
Adam39	T	C	8: 40,826,486 (GRCm38)	V638A	possibly damaging	Het
Adamts1	G	T	16: 85,796,817 (GRCm38)		probably benign	Het
AI661453	A	G	17: 47,467,866 (GRCm38)		probably benign	Het
Ank3	G	A	10: 69,884,802 (GRCm38)	S565N	probably benign	Het
Casd1	A	G	6: 4,621,243 (GRCm38)	E267G	probably benign	Het
Casr	T	C	16: 36,500,205 (GRCm38)	K527R	probably damaging	Het
Cep128	A	C	12: 91,325,532 (GRCm38)	S248A	probably damaging	Het
Clic4	A	G	4: 135,238,895 (GRCm38)	V50A	possibly damaging	Het
Cylc2	C	T	4: 51,225,173 (GRCm38)	A36V	probably benign	Het
Derl1	T	A	15: 57,878,559 (GRCm38)	M127L	probably benign	Het
Dnah6	A	G	6: 73,044,752 (GRCm38)	V3529A	possibly damaging	Het
Dock1	G	T	7: 135,098,779 (GRCm38)	L1089F	probably damaging	Het
Edil3	T	A	13: 89,289,576 (GRCm38)		probably null	Het
Ephb1	A	G	9: 101,996,825 (GRCm38)	V550A	probably damaging	Het
Fcho2	G	A	13: 98,784,816 (GRCm38)	T187I	probably benign	Het
Gas6	T	C	8: 13,465,902 (GRCm38)		probably null	Het
Gdf7	T	C	12: 8,297,971 (GRCm38)	Y442C	probably damaging	Het
Gm11567	G	A	11: 99,879,797 (GRCm38)	G187E	unknown	Het
Gm11639	A	T	11: 104,698,978 (GRCm38)	T134S	probably benign	Het
Gm8674	T	C	13: 49,901,358 (GRCm38)		noncoding transcript	Het
Ift80	T	A	3: 68,916,157 (GRCm38)	I591F	probably benign	Het
Kcnn3	C	T	3: 89,520,497 (GRCm38)	S10L	unknown	Het
Keg1	A	G	19: 12,719,042 (GRCm38)	I197V	probably benign	Het
Klhdc9	A	G	1: 171,359,466 (GRCm38)		probably null	Het
Klhl11	A	G	11: 100,463,015 (GRCm38)	V660A	probably benign	Het
Lamc1	T	C	1: 153,258,072 (GRCm38)		probably benign	Het
Lrrc73	G	T	17: 46,255,340 (GRCm38)		probably null	Het
Lrriq1	G	A	10: 103,214,824 (GRCm38)	S689L	probably benign	Het
Magi2	A	G	5: 20,705,506 (GRCm38)		probably benign	Het
Meis1	A	G	11: 19,016,278 (GRCm38)	S32P	probably benign	Het
Mia2	A	G	12: 59,179,845 (GRCm38)		probably null	Het
Mlph	T	C	1: 90,941,734 (GRCm38)	L486P	probably damaging	Het
Myh10	A	G	11: 68,792,010 (GRCm38)	E1090G	probably damaging	Het
Naip2	C	T	13: 100,161,981 (GRCm38)	A516T	possibly damaging	Het
Ndufc1	T	C	3: 51,408,243 (GRCm38)	T25A	probably benign	Het
Nedd4l	A	G	18: 65,198,641 (GRCm38)	Y636C	probably damaging	Het
Nfib	A	T	4: 82,498,679 (GRCm38)	Y40N	probably damaging	Het
Niban3	A	G	8: 71,600,164 (GRCm38)	D94G	probably benign	Het
Nisch	T	C	14: 31,173,168 (GRCm38)	D1057G	probably damaging	Het
P3h2	T	C	16: 25,972,291 (GRCm38)	H475R	probably benign	Het
Pde6c	C	A	19: 38,161,958 (GRCm38)	T517K	possibly damaging	Het
Piezo2	T	C	18: 63,082,915 (GRCm38)	I994V	probably benign	Het
Pik3r4	A	G	9: 105,687,152 (GRCm38)	D1315G	possibly damaging	Het
Pip5k1c	T	G	10: 81,314,994 (GRCm38)	V46G	probably damaging	Het
Pole	A	G	5: 110,317,845 (GRCm38)	E1213G	probably damaging	Het
Prl7d1	T	C	13: 27,712,131 (GRCm38)	S88G	possibly damaging	Het
Prodh	T	A	16: 18,081,069 (GRCm38)	N72I	probably benign	Het
Prrc2a	G	A	17: 35,156,954 (GRCm38)	R907C	probably damaging	Het
Ptger2	T	A	14: 44,988,966 (GRCm38)	M1K	probably null	Het
Samd4b	G	C	7: 28,423,616 (GRCm38)	Q6E	probably damaging	Het
Sec24a	C	T	11: 51,704,385 (GRCm38)	R916H	probably benign	Het
Slc12a5	C	A	2: 164,994,027 (GRCm38)	D865E	probably benign	Het
Slc17a3	T	C	13: 23,857,198 (GRCm38)		probably benign	Het
Ssrp1	T	C	2: 85,041,185 (GRCm38)	V317A	possibly damaging	Het
Stim1	A	G	7: 102,386,100 (GRCm38)	D95G	possibly damaging	Het
Taok2	A	T	7: 126,875,938 (GRCm38)		probably benign	Het
Tcof1	T	G	18: 60,816,228 (GRCm38)	K1205T	possibly damaging	Het
Trim43c	C	T	9: 88,847,477 (GRCm38)	R325C	probably damaging	Het
Trub2	T	G	2: 29,777,936 (GRCm38)	T231P	probably damaging	Het
Ttn	A	T	2: 76,811,243 (GRCm38)	L5176Q	possibly damaging	Het
Uty	T	A	Y: 1,152,054 (GRCm38)	D724V	probably damaging	Het
Vmn2r98	A	G	17: 19,080,908 (GRCm38)	D724G	probably damaging	Het
Wdfy3	A	G	5: 101,875,915 (GRCm38)	I2442T	possibly damaging	Het
Wdfy4	T	C	14: 33,073,585 (GRCm38)		probably null	Het
Zfp280b	A	G	10: 76,039,610 (GRCm38)	H441R	probably damaging	Het
Zfp60	A	T	7: 27,736,975 (GRCm38)	Q7L	probably damaging	Het
Zzef1	T	C	11: 72,826,202 (GRCm38)	L406S	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
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
R4003:Mylk	UTSW	16	34,963,577 (GRCm38)	missense	probably benign	0.29
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'- GTACTCAAGCCCTGGTGTCCATTC -3'
(R):5'- CAGGCAGCTCATAGCATCTTCCTC -3'

Sequencing Primer
(F):5'- CCAACTGGGTCAAAGAGAGC -3'
(R):5'- GCTCATAGCATCTTCCTCTAGGC -3'

Posted On

2014-04-24