Mutagenetix > Incidental Mutation

Incidental Mutation 'R1975:Mylk'

221643

Institutional Source

Beutler Lab

Gene Symbol

Mylk

Ensembl Gene

ENSMUSG00000022836

Gene Name

myosin, light polypeptide kinase

Synonyms

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

MMRRC Submission

039988-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1975 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

34565580-34822790 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 34700673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000023538
Gene: ENSMUSG00000022836

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (71/74)

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
Acad12	T	C	5: 121,742,322 (GRCm39)	T429A	probably benign	Het
Afmid	A	C	11: 117,727,300 (GRCm39)	I275L	probably benign	Het
Aimp1	A	C	3: 132,382,860 (GRCm39)	D5E	possibly damaging	Het
Aldob	G	A	4: 49,538,171 (GRCm39)	A319V	probably benign	Het
Ankar	C	T	1: 72,697,600 (GRCm39)	V1068I	possibly damaging	Het
Ccr2	C	T	9: 123,906,830 (GRCm39)	S370L	probably benign	Het
Chrnb4	A	G	9: 54,942,102 (GRCm39)	Y391H	probably damaging	Het
Clip1	A	G	5: 123,761,281 (GRCm39)	M873T	possibly damaging	Het
Cspg4	G	C	9: 56,797,762 (GRCm39)	G1409R	probably damaging	Het
Dnah17	A	T	11: 117,987,362 (GRCm39)	L1320*	probably null	Het
Dock4	T	C	12: 40,829,641 (GRCm39)		probably benign	Het
Eml4	T	C	17: 83,717,622 (GRCm39)	S65P	probably benign	Het
Fblim1	A	T	4: 141,312,175 (GRCm39)	D183E	probably damaging	Het
Foxn1	T	C	11: 78,256,763 (GRCm39)		probably benign	Het
Gm973	A	T	1: 59,601,930 (GRCm39)	T515S	possibly damaging	Het
Hdac7	G	A	15: 97,704,386 (GRCm39)	Q495*	probably null	Het
Hipk3	T	C	2: 104,301,518 (GRCm39)	I225V	probably benign	Het
Hrc	A	T	7: 44,985,638 (GRCm39)	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,375,888 (GRCm39)	I21T	probably benign	Het
Il15ra	A	G	2: 11,728,334 (GRCm39)	T133A	possibly damaging	Het
Krt78	T	C	15: 101,854,603 (GRCm39)	*1069W	probably null	Het
Lama3	T	A	18: 12,586,920 (GRCm39)	M761K	probably damaging	Het
Lonp1	T	C	17: 56,922,068 (GRCm39)	T771A	possibly damaging	Het
Macf1	T	C	4: 123,383,005 (GRCm39)	T1320A	probably damaging	Het
Mark3	A	T	12: 111,581,875 (GRCm39)	I115L	probably damaging	Het
Mcph1	T	G	8: 18,739,081 (GRCm39)		probably benign	Het
Med23	T	A	10: 24,786,664 (GRCm39)	N923K	probably benign	Het
Msrb2	T	G	2: 19,398,032 (GRCm39)	Y97D	probably damaging	Het
Muc6	C	T	7: 141,234,368 (GRCm39)	G708S	probably damaging	Het
Nfrkb	T	A	9: 31,325,980 (GRCm39)	V1141E	possibly damaging	Het
Obscn	T	C	11: 58,958,555 (GRCm39)	E3675G	probably damaging	Het
Or11h7	T	A	14: 50,890,821 (GRCm39)	N42K	probably damaging	Het
Or2l5	G	A	16: 19,333,586 (GRCm39)	P267S	probably damaging	Het
Or2t6	A	T	14: 14,175,446 (GRCm38)	V212E	probably damaging	Het
Or51aa2	A	T	7: 103,188,201 (GRCm39)	F80Y	probably damaging	Het
Or52z14	A	G	7: 103,253,219 (GRCm39)		probably null	Het
Or5ac21	T	C	16: 59,124,091 (GRCm39)	S193P	probably damaging	Het
Or8k21	C	G	2: 86,145,498 (GRCm39)	G44A	probably damaging	Het
Pan2	T	C	10: 128,156,282 (GRCm39)	V1171A	probably damaging	Het
Pdgfc	C	T	3: 81,116,552 (GRCm39)	T302I	probably damaging	Het
Pkhd1l1	G	T	15: 44,393,109 (GRCm39)	V1815F	probably damaging	Het
Pnpt1	A	G	11: 29,091,256 (GRCm39)	I337V	probably benign	Het
Psma8	T	G	18: 14,864,033 (GRCm39)		probably null	Het
Rbl2	T	C	8: 91,812,090 (GRCm39)	S220P	probably benign	Het
Rere	T	A	4: 150,700,190 (GRCm39)	D1091E	probably damaging	Het
Rpa1	A	G	11: 75,197,002 (GRCm39)	C540R	probably damaging	Het
Sema3d	T	A	5: 12,613,285 (GRCm39)	V454E	probably damaging	Het
Sema3d	T	C	5: 12,634,965 (GRCm39)	V677A	probably benign	Het
Sgk2	A	G	2: 162,846,080 (GRCm39)	N207S	probably benign	Het
Sirpb1a	T	C	3: 15,444,141 (GRCm39)	I370V	probably benign	Het
Slc22a19	A	G	19: 7,661,224 (GRCm39)		probably benign	Het
Slc26a1	T	A	5: 108,820,338 (GRCm39)	D287V	probably damaging	Het
Slc36a4	T	A	9: 15,645,506 (GRCm39)	V311D	probably damaging	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Slco2a1	T	A	9: 102,956,653 (GRCm39)	Y488*	probably null	Het
Stab2	A	C	10: 86,732,360 (GRCm39)		probably null	Het
Strn	T	C	17: 78,999,928 (GRCm39)		probably null	Het
Tbxas1	A	G	6: 38,925,575 (GRCm39)		probably benign	Het
Thumpd3	A	G	6: 113,032,838 (GRCm39)	N192S	possibly damaging	Het
Tns3	T	A	11: 8,385,738 (GRCm39)	I1386F	probably benign	Het
Treml4	T	A	17: 48,579,821 (GRCm39)	V219E	probably damaging	Het
Triobp	T	C	15: 78,850,908 (GRCm39)	V354A	probably benign	Het
Tspan8	A	G	10: 115,680,035 (GRCm39)	I217V	probably benign	Het
Tub	G	A	7: 108,627,042 (GRCm39)	G314R	possibly damaging	Het
Ube3b	C	T	5: 114,537,926 (GRCm39)	T339M	possibly damaging	Het
Vmn2r43	A	G	7: 8,258,550 (GRCm39)	I221T	possibly damaging	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Zfp110	C	T	7: 12,582,429 (GRCm39)	T359I	probably benign	Het
Zfp322a	A	T	13: 23,541,074 (GRCm39)	C223S	probably damaging	Het
Zfp512b	G	A	2: 181,228,878 (GRCm39)	R696*	probably null	Het

Other mutations in Mylk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01384:Mylk	APN	16	34,759,322 (GRCm39)	missense	probably benign	0.36
IGL01386:Mylk	APN	16	34,791,610 (GRCm39)	critical splice acceptor site	probably null
IGL01684:Mylk	APN	16	34,792,310 (GRCm39)	missense	possibly damaging	0.55
IGL01884:Mylk	APN	16	34,809,247 (GRCm39)	splice site	probably benign
IGL02079:Mylk	APN	16	34,681,001 (GRCm39)	missense	possibly damaging	0.87
IGL02104:Mylk	APN	16	34,635,805 (GRCm39)	missense	probably benign	0.06
IGL02624:Mylk	APN	16	34,750,266 (GRCm39)	missense	probably benign	0.29
IGL02756:Mylk	APN	16	34,784,016 (GRCm39)	missense	probably benign	0.42
IGL02794:Mylk	APN	16	34,806,911 (GRCm39)	missense	probably benign	0.21
IGL02833:Mylk	APN	16	34,735,270 (GRCm39)	missense	probably benign	0.01
IGL02946:Mylk	APN	16	34,742,158 (GRCm39)	missense	probably benign	0.10
IGL03012:Mylk	APN	16	34,773,151 (GRCm39)	missense	probably benign	0.03
IGL03093:Mylk	APN	16	34,732,562 (GRCm39)	missense	possibly damaging	0.62
IGL03272:Mylk	APN	16	34,799,559 (GRCm39)	missense	probably benign	0.09
billy	UTSW	16	34,695,990 (GRCm39)	missense	probably damaging	0.97
brutus	UTSW	16	34,774,065 (GRCm39)	missense	probably benign	0.12
Club	UTSW	16	34,732,645 (GRCm39)	nonsense	probably null
popeye	UTSW	16	34,783,947 (GRCm39)	missense	probably benign	0.29
F5770:Mylk	UTSW	16	34,815,574 (GRCm39)	critical splice donor site	probably null
P4717OSA:Mylk	UTSW	16	34,797,483 (GRCm39)	splice site	probably benign
PIT4382001:Mylk	UTSW	16	34,696,012 (GRCm39)	missense	probably damaging	0.99
R0131:Mylk	UTSW	16	34,695,874 (GRCm39)	missense	probably benign	0.03
R0309:Mylk	UTSW	16	34,732,667 (GRCm39)	splice site	probably benign
R0358:Mylk	UTSW	16	34,699,845 (GRCm39)	missense	possibly damaging	0.74
R0381:Mylk	UTSW	16	34,605,344 (GRCm39)	splice site	probably null
R0390:Mylk	UTSW	16	34,695,990 (GRCm39)	missense	probably damaging	0.97
R0413:Mylk	UTSW	16	34,742,314 (GRCm39)	missense	probably benign	0.01
R0536:Mylk	UTSW	16	34,820,757 (GRCm39)	missense	possibly damaging	0.95
R0544:Mylk	UTSW	16	34,699,845 (GRCm39)	missense	possibly damaging	0.74
R0545:Mylk	UTSW	16	34,699,845 (GRCm39)	missense	possibly damaging	0.74
R0546:Mylk	UTSW	16	34,699,845 (GRCm39)	missense	possibly damaging	0.74
R0547:Mylk	UTSW	16	34,699,845 (GRCm39)	missense	possibly damaging	0.74
R0548:Mylk	UTSW	16	34,699,845 (GRCm39)	missense	possibly damaging	0.74
R0627:Mylk	UTSW	16	34,820,799 (GRCm39)	missense	probably damaging	1.00
R0726:Mylk	UTSW	16	34,699,845 (GRCm39)	missense	possibly damaging	0.74
R0755:Mylk	UTSW	16	34,699,845 (GRCm39)	missense	possibly damaging	0.74
R0782:Mylk	UTSW	16	34,699,845 (GRCm39)	missense	possibly damaging	0.74
R0783:Mylk	UTSW	16	34,699,845 (GRCm39)	missense	possibly damaging	0.74
R0784:Mylk	UTSW	16	34,699,845 (GRCm39)	missense	possibly damaging	0.74
R1136:Mylk	UTSW	16	34,820,688 (GRCm39)	missense	probably damaging	1.00
R1170:Mylk	UTSW	16	34,694,409 (GRCm39)	missense	probably benign	0.20
R1222:Mylk	UTSW	16	34,681,022 (GRCm39)	missense	probably benign	0.12
R1445:Mylk	UTSW	16	34,635,835 (GRCm39)	missense	possibly damaging	0.57
R1583:Mylk	UTSW	16	34,695,956 (GRCm39)	missense	probably benign	0.29
R1618:Mylk	UTSW	16	34,699,845 (GRCm39)	missense	possibly damaging	0.74
R1643:Mylk	UTSW	16	34,696,005 (GRCm39)	missense	probably benign	0.03
R1702:Mylk	UTSW	16	34,742,314 (GRCm39)	missense	probably benign	0.00
R1776:Mylk	UTSW	16	34,773,152 (GRCm39)	missense	probably benign	0.16
R1865:Mylk	UTSW	16	34,732,600 (GRCm39)	missense	probably benign	0.03
R2016:Mylk	UTSW	16	34,817,187 (GRCm39)	missense	probably damaging	1.00
R2045:Mylk	UTSW	16	34,774,023 (GRCm39)	missense	probably benign	0.29
R2134:Mylk	UTSW	16	34,806,846 (GRCm39)	missense	probably benign	0.13
R3547:Mylk	UTSW	16	34,700,538 (GRCm39)	missense	possibly damaging	0.61
R3844:Mylk	UTSW	16	34,742,247 (GRCm39)	missense	probably benign	0.01
R4003:Mylk	UTSW	16	34,783,947 (GRCm39)	missense	probably benign	0.29
R4396:Mylk	UTSW	16	34,732,645 (GRCm39)	nonsense	probably null
R4470:Mylk	UTSW	16	34,732,522 (GRCm39)	missense	probably benign	0.09
R4507:Mylk	UTSW	16	34,774,065 (GRCm39)	missense	probably benign	0.12
R4700:Mylk	UTSW	16	34,742,805 (GRCm39)	missense	probably benign	0.16
R4751:Mylk	UTSW	16	34,699,539 (GRCm39)	missense	probably benign	0.29
R4815:Mylk	UTSW	16	34,715,295 (GRCm39)	missense	probably damaging	0.97
R4832:Mylk	UTSW	16	34,742,737 (GRCm39)	missense	probably benign	0.36
R4872:Mylk	UTSW	16	34,735,360 (GRCm39)	missense	possibly damaging	0.89
R4953:Mylk	UTSW	16	34,809,331 (GRCm39)	missense	probably damaging	1.00
R4969:Mylk	UTSW	16	34,791,810 (GRCm39)	missense	probably damaging	0.96
R5009:Mylk	UTSW	16	34,719,877 (GRCm39)	missense	probably benign	0.39
R5130:Mylk	UTSW	16	34,809,367 (GRCm39)	missense	probably damaging	1.00
R5173:Mylk	UTSW	16	34,797,383 (GRCm39)	missense	probably benign	0.40
R5195:Mylk	UTSW	16	34,799,585 (GRCm39)	missense	probably damaging	1.00
R5209:Mylk	UTSW	16	34,742,995 (GRCm39)	missense	possibly damaging	0.55
R5311:Mylk	UTSW	16	34,742,127 (GRCm39)	missense	probably benign	0.01
R5418:Mylk	UTSW	16	34,732,600 (GRCm39)	missense	probably benign	0.02
R5481:Mylk	UTSW	16	34,741,974 (GRCm39)	missense	probably benign	0.09
R5590:Mylk	UTSW	16	34,699,722 (GRCm39)	missense	probably benign	0.29
R5603:Mylk	UTSW	16	34,776,862 (GRCm39)	missense	probably benign	0.06
R5823:Mylk	UTSW	16	34,715,317 (GRCm39)	critical splice donor site	probably null
R6290:Mylk	UTSW	16	34,715,213 (GRCm39)	missense	probably benign	0.39
R6351:Mylk	UTSW	16	34,742,341 (GRCm39)	missense	probably benign	0.01
R6365:Mylk	UTSW	16	34,680,961 (GRCm39)	missense	probably benign	0.12
R6490:Mylk	UTSW	16	34,750,237 (GRCm39)	missense	possibly damaging	0.74
R6723:Mylk	UTSW	16	34,750,258 (GRCm39)	missense	possibly damaging	0.74
R6864:Mylk	UTSW	16	34,694,520 (GRCm39)	missense	probably benign	0.03
R6908:Mylk	UTSW	16	34,700,643 (GRCm39)	missense	probably benign	0.18
R6949:Mylk	UTSW	16	34,820,688 (GRCm39)	missense	probably damaging	1.00
R7018:Mylk	UTSW	16	34,820,796 (GRCm39)	missense	possibly damaging	0.88
R7035:Mylk	UTSW	16	34,797,352 (GRCm39)	missense	possibly damaging	0.89
R7162:Mylk	UTSW	16	34,742,899 (GRCm39)	missense	probably damaging	1.00
R7236:Mylk	UTSW	16	34,742,899 (GRCm39)	missense	probably damaging	1.00
R7269:Mylk	UTSW	16	34,605,381 (GRCm39)	missense	probably damaging	0.96
R7475:Mylk	UTSW	16	34,734,446 (GRCm39)	splice site	probably null
R7525:Mylk	UTSW	16	34,809,357 (GRCm39)	missense	probably benign	0.06
R7587:Mylk	UTSW	16	34,742,887 (GRCm39)	missense	probably benign	0.29
R7607:Mylk	UTSW	16	34,715,184 (GRCm39)	missense	probably benign	0.09
R7616:Mylk	UTSW	16	34,699,927 (GRCm39)	missense	probably damaging	0.97
R7647:Mylk	UTSW	16	34,699,894 (GRCm39)	missense	probably benign	0.29
R7648:Mylk	UTSW	16	34,699,894 (GRCm39)	missense	probably benign	0.29
R7764:Mylk	UTSW	16	34,742,553 (GRCm39)	missense	probably benign	0.16
R7890:Mylk	UTSW	16	34,784,018 (GRCm39)	nonsense	probably null
R7892:Mylk	UTSW	16	34,699,894 (GRCm39)	missense	probably benign	0.29
R7893:Mylk	UTSW	16	34,699,894 (GRCm39)	missense	probably benign	0.29
R8065:Mylk	UTSW	16	34,792,389 (GRCm39)	missense	probably benign	0.08
R8067:Mylk	UTSW	16	34,792,389 (GRCm39)	missense	probably benign	0.08
R8143:Mylk	UTSW	16	34,734,525 (GRCm39)	missense	possibly damaging	0.87
R8210:Mylk	UTSW	16	34,820,721 (GRCm39)	missense	probably damaging	1.00
R8271:Mylk	UTSW	16	34,742,949 (GRCm39)	missense	probably damaging	0.97
R8540:Mylk	UTSW	16	34,750,257 (GRCm39)	missense	possibly damaging	0.87
R8721:Mylk	UTSW	16	34,817,176 (GRCm39)	missense	probably damaging	1.00
R8743:Mylk	UTSW	16	34,741,427 (GRCm39)	missense	probably benign	0.03
R8798:Mylk	UTSW	16	34,719,772 (GRCm39)	missense	possibly damaging	0.89
R8956:Mylk	UTSW	16	34,791,779 (GRCm39)	missense	probably benign	0.01
R9131:Mylk	UTSW	16	34,776,835 (GRCm39)	missense	probably benign	0.29
R9403:Mylk	UTSW	16	34,696,012 (GRCm39)	nonsense	probably null
R9624:Mylk	UTSW	16	34,699,677 (GRCm39)	missense	probably benign	0.29
R9735:Mylk	UTSW	16	34,735,179 (GRCm39)	missense	probably benign	0.09
R9756:Mylk	UTSW	16	34,734,387 (GRCm39)	missense	probably damaging	0.96
R9763:Mylk	UTSW	16	34,699,482 (GRCm39)	nonsense	probably null
RF001:Mylk	UTSW	16	34,699,741 (GRCm39)	missense	probably benign	0.03
V7580:Mylk	UTSW	16	34,815,574 (GRCm39)	critical splice donor site	probably null
V7583:Mylk	UTSW	16	34,815,574 (GRCm39)	critical splice donor site	probably null
X0065:Mylk	UTSW	16	34,820,811 (GRCm39)	missense	probably damaging	1.00
Z1177:Mylk	UTSW	16	34,743,021 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- ATACCAAAGCCTGACGTGG -3'
(R):5'- CAACTGGCTTTGGAGTGGAC -3'

Sequencing Primer
(F):5'- CTGGTTCCTGGAAGGCATC -3'
(R):5'- AGTGGACGGGGGAATGTCTG -3'

Posted On

2014-08-25