Mutagenetix > Incidental Mutation

Incidental Mutation 'R5418:Mylk'

427885

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

042986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34565580-34822790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34732600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 627 (S627P)

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: S627P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000023538
Gene: ENSMUSG00000022836
AA Change: S627P

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: ENSMUST00000232482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232541

Meta Mutation Damage Score

0.2891

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (81/82)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	G	2: 35,244,738 (GRCm39)	S205P	probably damaging	Het
Abcc1	T	C	16: 14,278,996 (GRCm39)	V1102A	probably benign	Het
Acad8	A	T	9: 26,896,853 (GRCm39)	M202K	probably damaging	Het
Acoxl	T	A	2: 127,719,722 (GRCm39)	M161K	probably benign	Het
Adamts4	T	A	1: 171,080,143 (GRCm39)	V35E	probably damaging	Het
Add2	A	G	6: 86,087,894 (GRCm39)	S614G	probably benign	Het
Adgrv1	T	A	13: 81,567,427 (GRCm39)	I5249L	probably benign	Het
Agps	A	G	2: 75,689,248 (GRCm39)	T252A	probably damaging	Het
Alms1-ps1	G	A	6: 85,732,584 (GRCm39)		noncoding transcript	Het
Ankrd24	T	A	10: 81,480,776 (GRCm39)		probably benign	Het
Bcl9l	A	G	9: 44,416,733 (GRCm39)	Q218R	possibly damaging	Het
Bin2	T	C	15: 100,547,027 (GRCm39)	Y232C	probably damaging	Het
Bptf	A	G	11: 107,002,120 (GRCm39)	Y331H	probably damaging	Het
Ccr10	C	T	11: 101,064,904 (GRCm39)	V209M	probably benign	Het
Cflar	A	T	1: 58,791,810 (GRCm39)	D371V	possibly damaging	Het
Col1a2	A	G	6: 4,516,931 (GRCm39)		probably benign	Het
Crlf2	A	G	5: 109,704,899 (GRCm39)	V104A	probably benign	Het
Dennd1c	CCGCCCCTCGCTGACAGC	CC	17: 57,373,755 (GRCm39)		probably null	Het
Dmxl2	A	G	9: 54,281,935 (GRCm39)		probably null	Het
Dnah17	C	A	11: 117,985,810 (GRCm39)	E1422D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Efcab11	A	G	12: 99,821,877 (GRCm39)	L80S	possibly damaging	Het
Emc8	G	A	8: 121,385,342 (GRCm39)	T130M	probably damaging	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Erc2	A	G	14: 27,688,467 (GRCm39)	M196V	probably benign	Het
Etnk2	T	C	1: 133,300,995 (GRCm39)	I254T	probably damaging	Het
Fam120b	C	T	17: 15,622,061 (GRCm39)	T13M	probably damaging	Het
Fam234b	A	G	6: 135,203,966 (GRCm39)	K423E	probably benign	Het
Fcgbp	G	A	7: 27,784,738 (GRCm39)	G266D	probably damaging	Het
Fndc4	A	T	5: 31,451,978 (GRCm39)	S146R	probably benign	Het
Frmd3	G	A	4: 74,079,935 (GRCm39)		probably null	Het
Glrx2	C	A	1: 143,615,446 (GRCm39)	S16R	possibly damaging	Het
Gm26526	T	G	7: 39,238,358 (GRCm39)		noncoding transcript	Het
Hc	C	T	2: 34,898,195 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,787,313 (GRCm39)	C1695R	probably damaging	Het
Hic1	A	G	11: 75,057,425 (GRCm39)		probably null	Het
Igkv4-92	A	T	6: 68,732,564 (GRCm39)	V5E	possibly damaging	Het
Irs1	G	A	1: 82,266,491 (GRCm39)	T575I	probably damaging	Het
Kcp	A	T	6: 29,504,283 (GRCm39)	Y143*	probably null	Het
Klb	A	G	5: 65,540,813 (GRCm39)	N969D	probably benign	Het
Klra6	T	A	6: 129,990,393 (GRCm39)	L239F	probably damaging	Het
Lhx6	A	G	2: 35,977,378 (GRCm39)		probably null	Het
Lrrc34	G	A	3: 30,696,923 (GRCm39)	P116S	possibly damaging	Het
Map3k9	T	A	12: 81,790,591 (GRCm39)	K321*	probably null	Het
Mapk14	T	C	17: 28,960,817 (GRCm39)	V196A	possibly damaging	Het
Matcap2	G	T	9: 22,343,066 (GRCm39)	R187L	probably damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Mtmr12	T	C	15: 12,270,045 (GRCm39)	L711P	probably damaging	Het
Nbea	A	T	3: 55,553,410 (GRCm39)	Y2631N	possibly damaging	Het
Ncoa7	A	G	10: 30,524,035 (GRCm39)	V153A	probably damaging	Het
Or4a79	T	C	2: 89,552,343 (GRCm39)	I37M	probably benign	Het
Pax6	A	T	2: 105,521,910 (GRCm39)	D175V	probably benign	Het
Piezo1	A	G	8: 123,213,519 (GRCm39)	L1793P	probably damaging	Het
Pkp4	T	C	2: 59,140,506 (GRCm39)	V404A	probably benign	Het
Plxnb2	A	G	15: 89,050,694 (GRCm39)	Y421H	probably benign	Het
Prkdc	T	G	16: 15,612,961 (GRCm39)	V3173G	probably benign	Het
Prss40	A	T	1: 34,599,840 (GRCm39)	I49N	probably benign	Het
Prx	T	A	7: 27,216,699 (GRCm39)	V400E	probably damaging	Het
Rbm11	A	C	16: 75,393,423 (GRCm39)	T40P	probably damaging	Het
Resf1	T	C	6: 149,227,634 (GRCm39)	Y227H	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sema3f	A	G	9: 107,569,820 (GRCm39)	Y70H	probably damaging	Het
Senp6	G	A	9: 80,029,151 (GRCm39)	E505K	possibly damaging	Het
Slc25a3	T	C	10: 90,955,398 (GRCm39)	I147M	probably benign	Het
Slc4a7	T	A	14: 14,760,280 (GRCm38)	S572T	probably benign	Het
Smarcal1	C	T	1: 72,638,068 (GRCm39)	P501S	probably benign	Het
Sox7	C	T	14: 64,185,396 (GRCm39)	T144M	probably benign	Het
Taar1	T	C	10: 23,797,214 (GRCm39)	F304S	possibly damaging	Het
Tcf3	A	G	10: 80,263,517 (GRCm39)	F46L	probably damaging	Het
Tmem184c	A	G	8: 78,324,449 (GRCm39)	V347A	probably damaging	Het
Tpcn2	C	T	7: 144,832,518 (GRCm39)	E113K	probably damaging	Het
Vmn1r232	T	A	17: 21,134,378 (GRCm39)	Y74F	possibly damaging	Het
Vmn2r102	C	T	17: 19,914,415 (GRCm39)	T660I	probably damaging	Het
Zdhhc3	A	G	9: 122,909,456 (GRCm39)	M234T	probably damaging	Het
Zfp960	T	A	17: 17,307,805 (GRCm39)	L173H	probably damaging	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
R1975:Mylk	UTSW	16	34,700,673 (GRCm39)	splice site	probably null
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
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'- AGTGATCTCCAAGAGCCTCC -3'
(R):5'- CTGAGTCTACAGAATGCTACCCAG -3'

Sequencing Primer
(F):5'- CCGGCACACATCAGACCTG -3'
(R):5'- GATAGCAGAAGAGTCTTGTACCCC -3'

Posted On

2016-09-01