Incidental Mutation 'R0755:Mylk'
ID 70474
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 038935-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0755 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 34565580-34822790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 34699845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 403 (E403Q)
Ref Sequence ENSEMBL: ENSMUSP00000023538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023538]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023538
AA Change: E403Q

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023538
Gene: ENSMUSG00000022836
AA Change: E403Q

DomainStartEndE-ValueType
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 0.0630 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 93.8%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A T 14: 55,797,638 (GRCm39) probably benign Het
Acin1 A G 14: 54,889,292 (GRCm39) M1T probably null Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Aldh1a1 A G 19: 20,595,358 (GRCm39) M96V probably benign Het
Ankfn1 T A 11: 89,282,913 (GRCm39) M245L probably benign Het
Arhgap19 T C 19: 41,769,614 (GRCm39) K54E probably damaging Het
Atp1a2 T C 1: 172,116,948 (GRCm39) Q223R probably benign Het
Atp8a2 C T 14: 60,247,330 (GRCm39) V557I possibly damaging Het
AU041133 A T 10: 81,986,724 (GRCm39) K126* probably null Het
Axin1 T A 17: 26,401,480 (GRCm39) Y351N possibly damaging Het
Baiap2l1 T C 5: 144,221,367 (GRCm39) K176E probably damaging Het
Baz2a C T 10: 127,955,560 (GRCm39) T848I possibly damaging Het
Bbs2 A C 8: 94,808,708 (GRCm39) V333G probably benign Het
BC051019 G A 7: 109,315,302 (GRCm39) Q318* probably null Het
Bltp1 T C 3: 37,000,513 (GRCm39) S1231P probably damaging Het
Cdc37 C T 9: 21,051,160 (GRCm39) D362N probably damaging Het
Cep170 A T 1: 176,583,319 (GRCm39) V1020E probably damaging Het
Chrm4 T C 2: 91,758,747 (GRCm39) V385A probably benign Het
Cntrl G A 2: 35,035,151 (GRCm39) S373N probably damaging Het
Col23a1 G A 11: 51,467,706 (GRCm39) G19D probably damaging Het
Cyb5r4 G T 9: 86,911,625 (GRCm39) A100S probably damaging Het
Dctn1 C T 6: 83,166,059 (GRCm39) P115S probably damaging Het
Dhrs2 C T 14: 55,472,247 (GRCm39) T46M probably damaging Het
Disp2 T C 2: 118,620,243 (GRCm39) F325S probably benign Het
Dnah11 T G 12: 117,918,564 (GRCm39) T3456P possibly damaging Het
Dnah11 C A 12: 118,162,360 (GRCm39) V70F probably benign Het
Duoxa1 T A 2: 122,135,161 (GRCm39) T195S probably benign Het
Dync2i1 T C 12: 116,175,412 (GRCm39) I922V probably benign Het
Eif2ak1 T A 5: 143,821,742 (GRCm39) F353I possibly damaging Het
Esam A G 9: 37,447,998 (GRCm39) T211A probably damaging Het
Faf1 A G 4: 109,819,036 (GRCm39) N636S probably benign Het
Fbxo25 A G 8: 13,985,219 (GRCm39) Y305C probably benign Het
Fchsd1 C T 18: 38,101,803 (GRCm39) probably null Het
Fdxacb1 T A 9: 50,683,025 (GRCm39) D329E possibly damaging Het
Gvin2 A T 7: 105,545,892 (GRCm39) F2387I possibly damaging Het
Hbq1b A T 11: 32,237,104 (GRCm39) probably null Het
Hmcn2 T A 2: 31,343,172 (GRCm39) V4566E probably damaging Het
Igkv6-29 G A 6: 70,116,053 (GRCm39) T5I probably benign Het
Itfg1 A T 8: 86,452,834 (GRCm39) D511E possibly damaging Het
Jmjd1c C T 10: 66,932,378 (GRCm39) probably benign Het
Kat6b T A 14: 21,687,661 (GRCm39) M570K probably damaging Het
Kdm4d T A 9: 14,375,591 (GRCm39) K89M probably damaging Het
Krt19 A T 11: 100,032,965 (GRCm39) D194E possibly damaging Het
Lamc1 A T 1: 153,123,196 (GRCm39) Y665N possibly damaging Het
Lct A T 1: 128,221,872 (GRCm39) S1556T possibly damaging Het
Macf1 A G 4: 123,263,719 (GRCm39) L4924P probably damaging Het
Mef2c G A 13: 83,804,472 (GRCm39) probably null Het
Mff G A 1: 82,728,326 (GRCm39) probably null Het
Mycbp2 A T 14: 103,412,230 (GRCm39) L2581Q probably damaging Het
Nos3 T A 5: 24,572,295 (GRCm39) L123M probably damaging Het
Ntn5 C T 7: 45,335,952 (GRCm39) P128S probably benign Het
Nudt9 T C 5: 104,212,920 (GRCm39) V331A probably damaging Het
Or2y3 A T 17: 38,393,085 (GRCm39) Y261* probably null Het
Or7g34 T C 9: 19,478,415 (GRCm39) I88M possibly damaging Het
Pcdh7 A T 5: 57,877,664 (GRCm39) K406N possibly damaging Het
Pkdrej T A 15: 85,700,336 (GRCm39) I1867L probably benign Het
Plppr4 C T 3: 117,116,319 (GRCm39) G455R possibly damaging Het
Pramel11 A G 4: 143,624,299 (GRCm39) V66A probably damaging Het
Prkag2 G C 5: 25,152,629 (GRCm39) S158R probably benign Het
Ptprq T G 10: 107,418,400 (GRCm39) T1659P probably benign Het
Rasl12 A G 9: 65,318,241 (GRCm39) K202E probably benign Het
Rb1 A C 14: 73,434,653 (GRCm39) *922G probably null Het
Rsf1 C T 7: 97,229,174 (GRCm39) P22S probably damaging Het
Scn1a T G 2: 66,151,379 (GRCm39) T797P probably damaging Het
Sgsm2 A G 11: 74,756,323 (GRCm39) V342A probably damaging Het
Slc22a7 T G 17: 46,749,113 (GRCm39) H68P possibly damaging Het
Slc4a2 G A 5: 24,640,575 (GRCm39) A652T probably benign Het
Slc5a1 T A 5: 33,290,733 (GRCm39) L106M probably benign Het
Slco1c1 C T 6: 141,477,258 (GRCm39) P19S probably damaging Het
Snx1 A G 9: 66,005,738 (GRCm39) F127S probably damaging Het
Snx31 A T 15: 36,534,576 (GRCm39) I199N probably damaging Het
Snx33 T C 9: 56,832,741 (GRCm39) I443V possibly damaging Het
Sptbn1 A G 11: 30,089,016 (GRCm39) F749L probably damaging Het
Stoml3 T A 3: 53,405,559 (GRCm39) Y53* probably null Het
Stxbp2 A G 8: 3,692,019 (GRCm39) T554A probably benign Het
Tal1 T C 4: 114,925,573 (GRCm39) I214T probably damaging Het
Tas2r140 T A 6: 40,468,344 (GRCm39) I58N probably damaging Het
Thap1 A G 8: 26,648,501 (GRCm39) Y8C probably damaging Het
Thsd7a A T 6: 12,555,368 (GRCm39) L172Q probably damaging Het
Ube3c T A 5: 29,842,740 (GRCm39) D735E probably damaging Het
Unc80 G A 1: 66,544,082 (GRCm39) D402N probably damaging Het
Upf1 G T 8: 70,786,779 (GRCm39) R902S probably benign Het
Urb1 A G 16: 90,570,982 (GRCm39) Y1276H probably damaging Het
Urb1 A T 16: 90,576,026 (GRCm39) F843L probably benign Het
Vmn1r198 C T 13: 22,539,402 (GRCm39) T296I probably benign Het
Vmn1r33 A T 6: 66,588,892 (GRCm39) S221T probably damaging Het
Vmn2r103 A G 17: 19,993,830 (GRCm39) D69G probably benign Het
Vmn2r14 T G 5: 109,364,226 (GRCm39) L563F possibly damaging Het
Vmn2r60 G A 7: 41,844,869 (GRCm39) G744D probably damaging Het
Vstm4 T C 14: 32,614,601 (GRCm39) V181A probably damaging Het
Wdr72 G A 9: 74,052,376 (GRCm39) V136I probably benign Het
Zfp236 T A 18: 82,638,457 (GRCm39) N1388Y probably damaging Het
Zfp53 T A 17: 21,728,839 (GRCm39) F291I probably damaging Het
Zfp944 A T 17: 22,558,889 (GRCm39) H119Q possibly damaging Het
Other mutations in Mylk
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGTGTGAGGATGCTCCCAGAAAGG -3'
(R):5'- TGCATACATACGGGAGGTGCAGAC -3'

Sequencing Primer
(F):5'- AAAGGTCCCGCAGTCCTC -3'
(R):5'- GGAGGTGCAGACTGGTG -3'
Posted On 2013-09-30