Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Mylk'

711365

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34745210-35002420 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 34875642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 249 (S249*)

Ref Sequence

ENSEMBL: ENSMUSP00000023538 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000023538
AA Change: S249*

SMART Domains

Protein: ENSMUSP00000023538
Gene: ENSMUSG00000022836
AA Change: S249*

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,299	T255P	probably benign	Het
4930444G20Rik	C	T	10: 22,067,941	D47N	possibly damaging	Het
Angpt4	C	T	2: 151,938,972	T380M	probably damaging	Het
Apoa5	G	C	9: 46,270,646	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,702,198	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,121,927	L503S	possibly damaging	Het
Dock1	T	C	7: 135,168,396	V1795A	probably benign	Het
Dpys	C	G	15: 39,828,071	W285S	probably damaging	Het
Fam187b	T	C	7: 30,977,090	V8A		Het
Fbn2	T	C	18: 58,066,107	E1363G	probably damaging	Het
Glg1	C	T	8: 111,187,793	R453Q	probably benign	Het
Gm5591	T	A	7: 38,520,148	M434L	probably benign	Het
Gm5591	T	C	7: 38,522,256	T130A	probably damaging	Het
Gpld1	G	A	13: 24,979,729	V502I	probably benign	Het
Inhba	A	G	13: 16,017,381	H29R	probably benign	Het
Itga4	T	A	2: 79,325,660	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,543,077	I280L	probably benign	Het
Malrd1	T	C	2: 15,614,177	V284A		Het
Maml2	C	T	9: 13,621,673	Q728*	probably null	Het
Mkln1	T	C	6: 31,432,970	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204		probably null	Het
Muc16	A	G	9: 18,537,764		probably null	Het
Naa35	G	A	13: 59,601,003	A150T	possibly damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nup205	G	A	6: 35,199,974	R635H	probably benign	Het
Olfr263	T	C	13: 21,133,695	F307L	probably benign	Het
Olfr723	T	C	14: 49,929,449	T32A	probably benign	Het
Padi3	T	C	4: 140,810,532	I26V	probably benign	Het
Polq	T	C	16: 37,061,853	S1460P	probably benign	Het
Ptgdr	A	G	14: 44,853,258	S348P		Het
Qsox1	A	G	1: 155,782,597	S409P	probably damaging	Het
Rergl	T	A	6: 139,494,854	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,395,042	H22N	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,467,573		probably null	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,467,575		probably benign	Het
Slc2a3	A	C	6: 122,736,610	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,276,641	N540K	probably benign	Het
Slco6c1	A	T	1: 97,062,523	S664R	possibly damaging	Het
Tgm4	C	A	9: 123,052,772	S344R	probably damaging	Het
Trim61	T	A	8: 65,014,576	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,832,652	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,637,997	T395I	probably damaging	Het
Txndc9	T	C	1: 37,995,778	E15G	probably benign	Het
Vcpip1	A	G	1: 9,745,824	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,915,259	F313S	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
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'- CCAACTGGGTCAAAGAGAGC -3'
(R):5'- TCTAGTTAGGGACACAAATGAAGC -3'

Sequencing Primer
(F):5'- GACGTCTGTAACCAAGCTCTC -3'
(R):5'- CACAAATGAAGCGAGCAGGC -3'

Posted On

2022-05-16