Incidental Mutation 'R1170:Mylk'
ID 99344
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 039243-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1170 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 34565580-34822790 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34694409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 156 (R156H)
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: R156H

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023538
Gene: ENSMUSG00000022836
AA Change: R156H

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 0.0880 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 100% (105/105)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik A G 1: 151,856,163 (GRCm39) probably benign Het
Akap9 G A 5: 4,105,671 (GRCm39) S2914N probably benign Het
Alk T C 17: 72,207,729 (GRCm39) D1002G probably damaging Het
Ap3d1 A G 10: 80,568,674 (GRCm39) probably benign Het
Asb15 T C 6: 24,562,486 (GRCm39) probably benign Het
Asxl3 C A 18: 22,657,564 (GRCm39) P1858Q probably benign Het
Bltp1 T C 3: 37,098,780 (GRCm39) S1136P probably damaging Het
Bud31 T A 5: 145,079,388 (GRCm39) probably benign Het
C1qtnf1 G T 11: 118,339,095 (GRCm39) R255L probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cage1 C T 13: 38,206,856 (GRCm39) E330K probably damaging Het
Catsperz T A 19: 6,902,317 (GRCm39) N59I probably benign Het
Ccdc110 G T 8: 46,394,922 (GRCm39) S271I probably benign Het
Ccdc88b T A 19: 6,830,581 (GRCm39) E787V probably damaging Het
Ccna2 A T 3: 36,623,119 (GRCm39) probably benign Het
Cd36 T A 5: 18,018,086 (GRCm39) D209V probably damaging Het
Cers4 T A 8: 4,569,475 (GRCm39) W161R probably damaging Het
Ces2f T A 8: 105,680,178 (GRCm39) H442Q probably damaging Het
Chchd6 A C 6: 89,361,669 (GRCm39) C245G probably damaging Het
Cndp1 T G 18: 84,629,750 (GRCm39) Q481P probably benign Het
Col3a1 A G 1: 45,366,761 (GRCm39) R234G unknown Het
Col3a1 A T 1: 45,386,884 (GRCm39) N232I probably damaging Het
Colgalt2 A T 1: 152,378,768 (GRCm39) D398V probably damaging Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,495,941 (GRCm39) probably null Het
Dcdc2a C A 13: 25,240,290 (GRCm39) Q13K probably benign Het
Dzip3 A T 16: 48,781,571 (GRCm39) I240N probably damaging Het
Epb41l3 T A 17: 69,566,175 (GRCm39) L452* probably null Het
Fam193b C T 13: 55,689,518 (GRCm39) A753T probably damaging Het
Fam47e G C 5: 92,713,781 (GRCm39) probably benign Het
Fastkd1 A G 2: 69,538,993 (GRCm39) probably benign Het
Fmnl1 G A 11: 103,088,196 (GRCm39) G69D probably benign Het
Foxn2 A G 17: 88,781,094 (GRCm39) probably benign Het
Fsip2 A G 2: 82,821,844 (GRCm39) E5859G possibly damaging Het
Gm9894 T A 13: 67,912,820 (GRCm39) noncoding transcript Het
H2-T13 T C 17: 36,391,983 (GRCm39) N44S possibly damaging Het
Helz2 T C 2: 180,871,608 (GRCm39) Y2668C probably damaging Het
Hhipl1 T A 12: 108,277,952 (GRCm39) C93* probably null Het
Lig1 C T 7: 13,026,079 (GRCm39) A278V probably benign Het
Lipn T A 19: 34,049,158 (GRCm39) I108K probably benign Het
Lsamp A G 16: 41,971,592 (GRCm39) probably benign Het
Map3k14 A G 11: 103,129,743 (GRCm39) probably benign Het
Mdm4 A T 1: 132,919,558 (GRCm39) C436S probably damaging Het
Mdm4 A G 1: 132,940,430 (GRCm39) L33P probably damaging Het
Meiob T C 17: 25,055,458 (GRCm39) W422R probably damaging Het
Mppe1 T C 18: 67,360,777 (GRCm39) Y254C probably damaging Het
Mterf1a A T 5: 3,940,964 (GRCm39) N301K probably benign Het
Muc6 C T 7: 141,230,500 (GRCm39) S1210N probably damaging Het
Mycbp2 A T 14: 103,437,588 (GRCm39) Y2091* probably null Het
Myo15a G T 11: 60,370,233 (GRCm39) D998Y probably benign Het
Neb A T 2: 52,086,369 (GRCm39) Y5235N probably damaging Het
Nop58 A G 1: 59,743,370 (GRCm39) probably benign Het
Nr4a3 A G 4: 48,083,324 (GRCm39) K619R probably benign Het
Nr4a3 A G 4: 48,051,564 (GRCm39) H135R probably damaging Het
Nrg1 T C 8: 32,327,695 (GRCm39) probably benign Het
Odr4 T A 1: 150,262,142 (GRCm39) E99D probably benign Het
Or4f59 A T 2: 111,872,560 (GRCm39) D272E probably benign Het
Or5b122 T C 19: 13,563,577 (GRCm39) V260A probably benign Het
Or5m8 A T 2: 85,823,040 (GRCm39) N293I probably damaging Het
Or8g24 T A 9: 38,989,525 (GRCm39) D172V possibly damaging Het
Parp3 T C 9: 106,353,204 (GRCm39) probably benign Het
Pde2a A G 7: 101,133,750 (GRCm39) E103G probably benign Het
Pds5a A T 5: 65,792,645 (GRCm39) probably benign Het
Pip4k2c A G 10: 127,047,262 (GRCm39) V40A unknown Het
Pitrm1 T C 13: 6,602,780 (GRCm39) probably benign Het
Plk4 A G 3: 40,756,282 (GRCm39) I64M probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp2r1a T C 17: 21,171,593 (GRCm39) probably benign Het
Ppp4r3b T A 11: 29,159,426 (GRCm39) N172K probably damaging Het
Prkcg G A 7: 3,368,177 (GRCm39) R357Q probably damaging Het
Prmt3 T C 7: 49,498,295 (GRCm39) probably null Het
Prx T A 7: 27,217,432 (GRCm39) C644* probably null Het
Ptpru A G 4: 131,535,838 (GRCm39) probably benign Het
Rbm5 A T 9: 107,619,696 (GRCm39) D738E probably damaging Het
Recql5 A T 11: 115,788,060 (GRCm39) Y420N probably damaging Het
Rnf17 T C 14: 56,663,088 (GRCm39) I152T probably benign Het
Rnpepl1 A G 1: 92,846,917 (GRCm39) S580G possibly damaging Het
Ryr3 C T 2: 112,777,332 (GRCm39) G275D probably damaging Het
Serpinb9e T A 13: 33,441,735 (GRCm39) Y222* probably null Het
Shld2 A T 14: 33,990,448 (GRCm39) S153T possibly damaging Het
Slc10a1 T A 12: 81,002,802 (GRCm39) I279F probably damaging Het
Slc12a8 G T 16: 33,483,347 (GRCm39) G584V probably damaging Het
Slc35b3 T A 13: 39,121,307 (GRCm39) Y311F probably benign Het
Slc44a5 A G 3: 153,963,357 (GRCm39) probably null Het
Slc6a9 A G 4: 117,722,003 (GRCm39) E422G possibly damaging Het
Smpd2 A G 10: 41,364,728 (GRCm39) probably null Het
Spast A G 17: 74,688,963 (GRCm39) probably null Het
Spink5 A T 18: 44,116,630 (GRCm39) E208V probably benign Het
Stag1 T C 9: 100,770,506 (GRCm39) probably benign Het
Stambp A G 6: 83,540,803 (GRCm39) probably null Het
Sult3a2 A T 10: 33,653,188 (GRCm39) M184K possibly damaging Het
Tcp11 T C 17: 28,290,636 (GRCm39) D162G probably damaging Het
Themis A C 10: 28,544,744 (GRCm39) E30A possibly damaging Het
Tmc7 G A 7: 118,150,483 (GRCm39) S350L probably benign Het
Tmem131 A T 1: 36,873,979 (GRCm39) Y271* probably null Het
Trim35 T A 14: 66,546,248 (GRCm39) S338R probably benign Het
Trim42 C A 9: 97,245,673 (GRCm39) V376F probably benign Het
Tshr A T 12: 91,504,871 (GRCm39) K11M probably damaging Het
Vps8 A G 16: 21,278,570 (GRCm39) probably benign Het
Wdr11 T C 7: 129,208,831 (GRCm39) probably benign Het
Wdr26 A T 1: 181,008,859 (GRCm39) probably benign Het
Wdtc1 A G 4: 133,024,857 (GRCm39) Y447H probably damaging Het
Zfp687 C T 3: 94,915,784 (GRCm39) C996Y probably damaging Het
Zfp984 A T 4: 147,840,446 (GRCm39) V135E probably benign Het
Zranb2 T C 3: 157,247,502 (GRCm39) probably benign 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
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
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
Posted On 2014-01-15