Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4382001:Mylk'

554718

Institutional Source

Beutler Lab

Gene Symbol

Mylk

Ensembl Gene

ENSMUSG00000022836

Gene Name

myosin, light polypeptide kinase

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4382001 (G1)

Quality Score

179.009

Status

Not validated

Chromosome

Chromosomal Location

34565580-34822790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34696012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 249 (S249L)

Ref Sequence

ENSEMBL: ENSMUSP00000023538 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023538
AA Change: S249L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023538
Gene: ENSMUSG00000022836
AA Change: S249L

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: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 136,978,711 (GRCm39)	H144N	unknown	Het
Acsm4	C	T	7: 119,297,798 (GRCm39)	T145M	probably damaging	Het
Adam10	T	C	9: 70,673,363 (GRCm39)	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,522,934 (GRCm39)	L430P		Het
Alk	T	C	17: 72,256,916 (GRCm39)	M648V	probably benign	Het
Arhgap35	T	C	7: 16,297,794 (GRCm39)	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,215,480 (GRCm39)	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,411,219 (GRCm39)	V16M	probably damaging	Het
Chil3	T	G	3: 106,055,975 (GRCm39)	D366A	probably damaging	Het
Chuk	A	G	19: 44,087,046 (GRCm39)	V151A	probably damaging	Het
Cpd	T	G	11: 76,688,614 (GRCm39)	H886P	probably benign	Het
Cped1	T	A	6: 22,222,449 (GRCm39)	C736*	probably null	Het
Creb3l3	T	C	10: 80,920,746 (GRCm39)	E428G	probably benign	Het
Csad	G	A	15: 102,097,085 (GRCm39)	L7F	probably benign	Het
Dnah1	C	T	14: 31,006,412 (GRCm39)	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,728,508 (GRCm39)	Y159H	probably damaging	Het
Dpysl4	T	A	7: 138,669,494 (GRCm39)	Y57*	probably null	Het
F2rl1	T	G	13: 95,650,154 (GRCm39)	N243H	probably benign	Het
Fhl4	T	C	10: 84,934,293 (GRCm39)	K163E	possibly damaging	Het
Flot2	T	C	11: 77,944,193 (GRCm39)	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,821,196 (GRCm39)	T5643K	possibly damaging	Het
Golga4	T	A	9: 118,382,521 (GRCm39)	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,446,038 (GRCm39)	T426A	probably benign	Het
Kdm2a	T	A	19: 4,393,201 (GRCm39)	M385L	probably benign	Het
Kdm3b	T	C	18: 34,942,140 (GRCm39)	S744P	probably damaging	Het
Krtap20-1	T	A	16: 88,881,048 (GRCm39)	Y26*	probably null	Het
Lama2	T	C	10: 27,080,901 (GRCm39)	D974G	probably damaging	Het
Ldc1	A	T	4: 130,112,954 (GRCm39)	N147K	possibly damaging	Het
Lipo5	A	T	19: 33,443,339 (GRCm39)	L159Q	probably null	Het
LTO1	T	A	7: 144,470,181 (GRCm39)	Y37N	probably damaging	Het
Mau2	C	T	8: 70,483,302 (GRCm39)	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,355,136 (GRCm39)	L236P	probably benign	Het
Mta1	A	G	12: 113,096,870 (GRCm39)	T564A	probably benign	Het
Ncor1	G	T	11: 62,235,489 (GRCm39)	T331K	probably damaging	Het
Nsun3	T	A	16: 62,606,228 (GRCm39)	K15N	probably damaging	Het
Nsun5	A	G	5: 135,400,355 (GRCm39)	Y132C	probably benign	Het
Obsl1	T	A	1: 75,464,607 (GRCm39)	T1605S	probably benign	Het
Or10a3n	A	G	7: 108,493,309 (GRCm39)	Y107H	probably damaging	Het
Or51f1	A	G	7: 102,505,809 (GRCm39)	Y227H	probably damaging	Het
Or51t4	A	T	7: 102,598,656 (GRCm39)	Y328F	probably benign	Het
Or5b109	T	C	19: 13,212,259 (GRCm39)	I215T	probably damaging	Het
P2rx1	A	G	11: 72,900,026 (GRCm39)	N148D	probably benign	Het
Pogz	T	A	3: 94,787,107 (GRCm39)	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,520,049 (GRCm39)	T655N	probably damaging	Het
Prss34	T	C	17: 25,517,882 (GRCm39)		probably null	Het
Rhpn2	A	G	7: 35,090,178 (GRCm39)		probably null	Het
Runx1	T	A	16: 92,410,648 (GRCm39)	D256V	probably damaging	Het
Shc1	C	A	3: 89,334,715 (GRCm39)	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,400,507 (GRCm39)	D51G	probably benign	Het
Slc6a3	A	T	13: 73,719,642 (GRCm39)	N557I	probably benign	Het
Slmap	C	T	14: 26,254,586 (GRCm39)	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,183,985 (GRCm39)	I509T	probably benign	Het
Spata31e4	A	T	13: 50,855,007 (GRCm39)	E215V	probably damaging	Het
Srr	C	A	11: 74,801,134 (GRCm39)	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,785 (GRCm39)	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,601,300 (GRCm39)	*920K	probably null	Het
Tenm2	T	A	11: 35,954,729 (GRCm39)	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,887,841 (GRCm39)	N322S	probably benign	Het
Tlcd2	A	G	11: 75,359,417 (GRCm39)	I70V	probably benign	Het
Tmem214	A	G	5: 31,028,795 (GRCm39)	D128G	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,238 (GRCm39)	V64A	probably benign	Het
Tyro3	T	C	2: 119,632,845 (GRCm39)	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246 (GRCm39)	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,178,828 (GRCm39)	D627G	probably benign	Het
Utp6	T	C	11: 79,853,099 (GRCm39)	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,614,605 (GRCm39)	K775R	probably damaging	Het
Wdfy3	CG	C	5: 102,030,827 (GRCm39)		probably null	Het
Zw10	C	T	9: 48,982,944 (GRCm39)	T525I	probably benign	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
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
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'- CCAACTGGGTCAAAGAGAGC -3'
(R):5'- TCTAGTTAGGGACACAAATGAAGC -3'

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

Posted On

2019-06-07