Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Mylk'

588402

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

045677-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7607 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34745210-35002420 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34894814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 504 (P504L)

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: P504L

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023538
Gene: ENSMUSG00000022836
AA Change: P504L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,237,557 (GRCm38)	H30Q	probably damaging	Het
A930009A15Rik	G	A	10: 115,581,989 (GRCm38)		probably null	Het
Abca7	T	C	10: 80,011,833 (GRCm38)	L1779P	probably damaging	Het
Aff1	G	A	5: 103,849,459 (GRCm38)	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,712,419 (GRCm38)	A169V	probably damaging	Het
Atat1	T	C	17: 35,909,107 (GRCm38)	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,011 (GRCm38)		probably null	Het
Atp7b	T	G	8: 22,011,506 (GRCm38)	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,814,321 (GRCm38)	V112A	possibly damaging	Het
Cfap107	T	A	4: 144,419,762 (GRCm38)	H107L	probably damaging	Het
Cobll1	T	C	2: 65,095,857 (GRCm38)	N1119S	probably benign	Het
Csmd1	G	T	8: 15,918,331 (GRCm38)	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,984,981 (GRCm38)	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,195,069 (GRCm38)	R948*	probably null	Het
Dhrs3	A	G	4: 144,923,940 (GRCm38)	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm38)	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449 (GRCm38)	V78A	probably damaging	Het
Evc2	A	G	5: 37,386,856 (GRCm38)	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,989,409 (GRCm38)	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,662,732 (GRCm38)	W1809*	probably null	Het
Frmd4a	T	A	2: 4,591,936 (GRCm38)	L156*	probably null	Het
Gk5	A	T	9: 96,153,210 (GRCm38)		probably null	Het
Gm3573	A	G	14: 42,189,750 (GRCm38)	F8L	probably benign	Het
Gm9767	G	A	10: 26,078,940 (GRCm38)	C130Y	unknown	Het
Grip2	T	C	6: 91,788,412 (GRCm38)	T30A	probably benign	Het
Gskip	C	A	12: 105,698,897 (GRCm38)	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 33,776,465 (GRCm38)	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,419,177 (GRCm38)	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,798,190 (GRCm38)	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 120,097,911 (GRCm38)	1141	probably null	Het
Igdcc4	C	T	9: 65,133,758 (GRCm38)	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,382,269 (GRCm38)		probably null	Het
Knl1	T	C	2: 119,095,133 (GRCm38)	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,285,230 (GRCm38)	E518G	unknown	Het
Mlh1	A	G	9: 111,229,890 (GRCm38)	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,398,940 (GRCm38)	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,708 (GRCm38)	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035 (GRCm38)	I33F	probably benign	Het
Ntrk3	C	T	7: 78,250,873 (GRCm38)	A573T	probably benign	Het
Obscn	G	T	11: 58,998,265 (GRCm38)	S7560R	unknown	Het
Or1m1	A	G	9: 18,754,882 (GRCm38)	F251S	possibly damaging	Het
Or52z12	A	C	7: 103,584,930 (GRCm38)	T303P	probably damaging	Het
Pde1c	T	C	6: 56,150,628 (GRCm38)	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,288,976 (GRCm38)	H19L	probably benign	Het
Plce1	C	A	19: 38,524,752 (GRCm38)	A165E	probably benign	Het
Polr1a	T	C	6: 71,913,021 (GRCm38)	S75P	probably benign	Het
Psg21	T	C	7: 18,654,783 (GRCm38)	E128G	probably benign	Het
Radil	A	G	5: 142,506,613 (GRCm38)	I420T	probably damaging	Het
Radil	A	T	5: 142,494,795 (GRCm38)	M635K	probably damaging	Het
Rnase11	G	A	14: 51,049,572 (GRCm38)	T175I	probably damaging	Het
Robo1	C	T	16: 72,563,738 (GRCm38)	P13S		Het
Slc18a2	C	A	19: 59,284,358 (GRCm38)	A364D	probably benign	Het
Snph	C	T	2: 151,594,586 (GRCm38)	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,392,264 (GRCm38)	K70R	possibly damaging	Het
Snx33	T	C	9: 56,926,713 (GRCm38)	D24G	probably benign	Het
Spag6	T	A	2: 18,731,962 (GRCm38)	D165E	possibly damaging	Het
Spata31	T	G	13: 64,921,592 (GRCm38)	L518R	probably damaging	Het
Spata31e3	T	C	13: 50,250,260 (GRCm38)	E2G	possibly damaging	Het
Sspo	G	A	6: 48,489,727 (GRCm38)	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,679,979 (GRCm38)	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,256,658 (GRCm38)	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,474,829 (GRCm38)	T40A	unknown	Het
Terb2	G	T	2: 122,186,475 (GRCm38)	G26W	probably damaging	Het
Tmem62	T	C	2: 120,996,440 (GRCm38)	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,844,732 (GRCm38)	V582I	probably benign	Het
Tpsg1	G	T	17: 25,373,210 (GRCm38)	G86V	probably damaging	Het
Unc13c	T	C	9: 73,669,535 (GRCm38)	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573 (GRCm38)		probably benign	Het
Vmn1r48	C	A	6: 90,035,980 (GRCm38)	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,173,640 (GRCm38)	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,067,308 (GRCm38)	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,066,231 (GRCm38)	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,986,742 (GRCm38)	D992E	possibly 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
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
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'- GGAAGGCCCCTTTTCAGTTG -3'
(R):5'- ACATATGGTTCGGAGTGACAAG -3'

Sequencing Primer
(F):5'- CAGTTGTACTGCAGGCATCAATGC -3'
(R):5'- TTCGGAGTGACAAGTGAACTC -3'

Posted On

2019-10-24