Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:Mylk'

602529

Institutional Source

Beutler Lab

Gene Symbol

Mylk

Ensembl Gene

ENSMUSG00000022836

Gene Name

myosin, light polypeptide kinase

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34745210-35002420 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34879371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 368 (D368G)

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: D368G

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

SMART Domains

Protein: ENSMUSP00000023538
Gene: ENSMUSG00000022836
AA Change: D368G

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	G	GTGGCTGCTA	1: 82,913,590 (GRCm38)		probably benign	Het
Acer1	A	G	17: 56,958,909 (GRCm38)	V122A	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,921 (GRCm38)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,643,571 (GRCm38)		probably benign	Het
Atp13a1	C	A	8: 69,800,070 (GRCm38)	A680D	probably damaging	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,512,927 (GRCm38)		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,512,906 (GRCm38)		probably benign	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,512,903 (GRCm38)		probably benign	Het
Cad	GT	G	5: 31,060,212 (GRCm38)		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,141,276 (GRCm38)		probably benign	Het
Casz1	CACA	C	4: 148,952,304 (GRCm38)		probably benign	Het
Cherp	GACCTGGA	G	8: 72,462,049 (GRCm38)		probably null	Het
Chga	AGC	AGCTGC	12: 102,561,423 (GRCm38)		probably benign	Het
Coq7	A	G	7: 118,533,182 (GRCm38)	S24P	probably benign	Het
Cul1	T	C	6: 47,524,581 (GRCm38)	V734A	possibly damaging	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 87,040,416 (GRCm38)		probably benign	Het
Dgkz	A	T	2: 91,939,941 (GRCm38)	F521I	possibly damaging	Het
Fam171b	GCAGCA	GCAGCATCAGCA	2: 83,812,886 (GRCm38)		probably benign	Het
Fat1	T	G	8: 44,988,966 (GRCm38)	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 75,000,018 (GRCm38)		probably benign	Het
Gm14412	T	C	2: 177,317,101 (GRCm38)	I52V	probably benign	Het
Gm5346	T	G	8: 43,626,905 (GRCm38)	D94A	possibly damaging	Het
Gm5414	T	C	15: 101,627,953 (GRCm38)	E79G	probably benign	Het
Gpc5	G	A	14: 115,417,178 (GRCm38)	S470N	probably benign	Het
Grin2b	A	G	6: 136,044,240 (GRCm38)	V21A	probably benign	Het
Hecw1	C	A	13: 14,297,424 (GRCm38)	C553F	probably damaging	Het
Hsd3b6	T	A	3: 98,806,440 (GRCm38)	H181L	probably benign	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,125,762 (GRCm38)		probably benign	Het
Inpp5f	G	A	7: 128,695,083 (GRCm38)	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,311,697 (GRCm38)	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,110,432 (GRCm38)	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,586,382 (GRCm38)		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,315,775 (GRCm38)		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,042,255 (GRCm38)		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,042,280 (GRCm38)		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,042,282 (GRCm38)		probably benign	Het
Lama1	A	G	17: 67,752,902 (GRCm38)	D662G		Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 93,018,269 (GRCm38)		probably benign	Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 93,018,152 (GRCm38)		probably benign	Het
Lmo4	A	C	3: 144,201,862 (GRCm38)	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,736,633 (GRCm38)	I952T	probably benign	Het
Lyst	T	C	13: 13,635,841 (GRCm38)	F699L	probably benign	Het
Matn3	T	A	12: 8,958,797 (GRCm38)	D303E	probably benign	Het
Me1	A	G	9: 86,582,823 (GRCm38)	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,300,299 (GRCm38)	V68E	probably benign	Het
Mptx2	T	C	1: 173,274,969 (GRCm38)	N51S	probably benign	Het
Myom2	T	C	8: 15,081,418 (GRCm38)	V372A	possibly damaging	Het
Neb	T	C	2: 52,195,421 (GRCm38)	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,030 (GRCm38)		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,110,235 (GRCm38)		probably benign	Het
Pop1	G	A	15: 34,502,437 (GRCm38)	G90D	probably damaging	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 156,096,075 (GRCm38)		probably benign	Het
Sertad4	T	C	1: 192,847,178 (GRCm38)	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,785,314 (GRCm38)		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,630,986 (GRCm38)		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,631,021 (GRCm38)		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,727,662 (GRCm38)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,835,739 (GRCm38)		probably benign	Het
Tecpr1	A	G	5: 144,217,386 (GRCm38)	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,967,027 (GRCm38)		probably benign	Het
Vmn1r48	A	T	6: 90,036,204 (GRCm38)	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,429,687 (GRCm38)		probably benign	Het
Zscan29	T	C	2: 121,163,996 (GRCm38)	N503D	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
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
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'- AGTAAGAACTGTCCAAGTCCCC -3'
(R):5'- CTGACCTTCAGTGACTTCCTGG -3'

Sequencing Primer
(F):5'- GAACTGTCCAAGTCCCCAGAGG -3'
(R):5'- GCTTTGGGGCTGACTCTCAAATC -3'

Posted On

2019-12-04