Incidental Mutation 'R0402:Mylk3'
ID 35622
Institutional Source Beutler Lab
Gene Symbol Mylk3
Ensembl Gene ENSMUSG00000031698
Gene Name myosin light chain kinase 3
Synonyms D830007F02Rik
MMRRC Submission 038607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R0402 (G1)
Quality Score 176
Status Validated
Chromosome 8
Chromosomal Location 86050933-86112969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86079539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 373 (H373L)
Ref Sequence ENSEMBL: ENSMUSP00000113389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034133] [ENSMUST00000121972] [ENSMUST00000122452]
AlphaFold Q3UIZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000034133
AA Change: H506L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: H506L

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
low complexity region 304 316 N/A INTRINSIC
S_TKc 491 746 6.93e-91 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121972
AA Change: H443L

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: H443L

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
low complexity region 241 253 N/A INTRINSIC
S_TKc 428 683 6.93e-91 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122452
AA Change: H373L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: H373L

DomainStartEndE-ValueType
low complexity region 171 183 N/A INTRINSIC
S_TKc 358 613 6.93e-91 SMART
Meta Mutation Damage Score 0.6377 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.0%
  • 10x: 94.5%
  • 20x: 88.7%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cardiac hypertrophy, reduced cardiac function and increased response of heart to induced stress. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,445,115 (GRCm39) K165N probably damaging Het
Adam6b T A 12: 113,453,615 (GRCm39) M144K probably damaging Het
Arhgap44 T C 11: 64,922,903 (GRCm39) probably benign Het
Arl5c T A 11: 97,885,939 (GRCm39) I21F probably damaging Het
Bglap2 C T 3: 88,285,552 (GRCm39) G40D probably damaging Het
Bptf T C 11: 106,964,940 (GRCm39) E1303G probably damaging Het
Calhm1 T C 19: 47,129,896 (GRCm39) T209A probably damaging Het
Ccr8 A G 9: 119,923,976 (GRCm39) probably null Het
Chkb C T 15: 89,313,610 (GRCm39) R65Q probably benign Het
Col4a1 T C 8: 11,249,838 (GRCm39) probably benign Het
Cryzl2 A G 1: 157,292,014 (GRCm39) T98A probably benign Het
D430041D05Rik T C 2: 103,998,509 (GRCm39) T1080A probably damaging Het
Dhx8 C A 11: 101,643,223 (GRCm39) T765N probably damaging Het
Dicer1 T C 12: 104,697,323 (GRCm39) D78G probably benign Het
Drd2 A G 9: 49,316,271 (GRCm39) I344V probably benign Het
Edil3 A T 13: 89,347,570 (GRCm39) probably benign Het
Fbxw19 C T 9: 109,313,493 (GRCm39) G235D probably benign Het
Fzd1 T C 5: 4,805,702 (GRCm39) K627E possibly damaging Het
Garin1b A G 6: 29,323,901 (GRCm39) T209A probably benign Het
Garin4 T C 1: 190,896,637 (GRCm39) D2G probably benign Het
Gm10638 A G 8: 87,472,828 (GRCm39) probably benign Het
H6pd G T 4: 150,080,773 (GRCm39) A24E probably damaging Het
Hectd2 G T 19: 36,578,929 (GRCm39) probably null Het
Hps5 A G 7: 46,440,333 (GRCm39) probably benign Het
Irx3 T C 8: 92,527,296 (GRCm39) N136S possibly damaging Het
Kcmf1 T C 6: 72,826,568 (GRCm39) M1V probably null Het
Klrb1 A T 6: 128,687,583 (GRCm39) F104I probably benign Het
Lrfn5 T C 12: 61,886,803 (GRCm39) M197T probably benign Het
Mpdz A C 4: 81,279,677 (GRCm39) M51R possibly damaging Het
Mtbp G T 15: 55,432,466 (GRCm39) E258* probably null Het
Myrfl A G 10: 116,664,882 (GRCm39) S383P probably damaging Het
Nt5c T C 11: 115,381,468 (GRCm39) *195W probably null Het
Ocstamp A G 2: 165,238,184 (GRCm39) V360A possibly damaging Het
Or10ak16 A T 4: 118,750,426 (GRCm39) I49F possibly damaging Het
Or10al6 T A 17: 38,083,284 (GRCm39) C247S probably damaging Het
Or4k35 A G 2: 111,100,208 (GRCm39) F168S probably damaging Het
Or4p19 A T 2: 88,242,378 (GRCm39) V208D probably damaging Het
Or5an9 A G 19: 12,186,953 (GRCm39) T8A probably damaging Het
Otop2 T C 11: 115,217,234 (GRCm39) probably benign Het
Pom121l2 A T 13: 22,172,649 (GRCm39) probably benign Het
Pon2 T A 6: 5,272,410 (GRCm39) K137* probably null Het
Ppip5k2 T A 1: 97,647,579 (GRCm39) Q1049L probably benign Het
Ralgapa2 C T 2: 146,276,729 (GRCm39) V504M probably damaging Het
Rph3a G A 5: 121,080,317 (GRCm39) H654Y probably damaging Het
Sh2d1b1 T C 1: 170,107,342 (GRCm39) probably benign Het
Slc15a2 G A 16: 36,595,960 (GRCm39) T154I probably benign Het
Slc45a3 T C 1: 131,905,265 (GRCm39) V96A possibly damaging Het
Slc7a4 A G 16: 17,393,497 (GRCm39) S101P probably damaging Het
Smco2 T C 6: 146,772,633 (GRCm39) probably benign Het
Spata2 A T 2: 167,325,580 (GRCm39) V413E probably benign Het
Specc1l A G 10: 75,082,260 (GRCm39) E552G probably damaging Het
Sstr5 C T 17: 25,711,008 (GRCm39) V74M probably benign Het
Timm50 G A 7: 28,006,280 (GRCm39) R274W probably damaging Het
Tll2 A G 19: 41,087,132 (GRCm39) V573A possibly damaging Het
Tm7sf3 C A 6: 146,507,685 (GRCm39) R459M possibly damaging Het
Txk A G 5: 72,889,105 (GRCm39) probably null Het
Uroc1 A G 6: 90,324,284 (GRCm39) D436G probably damaging Het
Vmn1r13 T A 6: 57,187,083 (GRCm39) Y81N possibly damaging Het
Vmn2r19 A G 6: 123,313,141 (GRCm39) E737G probably damaging Het
Wfs1 A G 5: 37,134,324 (GRCm39) probably benign Het
Zfp1 G A 8: 112,396,875 (GRCm39) E285K probably damaging Het
Zfp1005 T A 2: 150,111,136 (GRCm39) C609S possibly damaging Het
Zfp661 G A 2: 127,419,640 (GRCm39) Q167* probably null Het
Zswim8 T C 14: 20,760,834 (GRCm39) F36S probably damaging Het
Zw10 A G 9: 48,980,023 (GRCm39) T385A probably benign Het
Other mutations in Mylk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Mylk3 APN 8 86,082,155 (GRCm39) nonsense probably null
IGL01088:Mylk3 APN 8 86,078,586 (GRCm39) splice site probably null
IGL01431:Mylk3 APN 8 86,063,030 (GRCm39) missense probably damaging 1.00
IGL01488:Mylk3 APN 8 86,078,656 (GRCm39) missense probably damaging 1.00
IGL01550:Mylk3 APN 8 86,091,718 (GRCm39) missense probably damaging 1.00
IGL01786:Mylk3 APN 8 86,085,946 (GRCm39) missense probably benign 0.27
IGL01877:Mylk3 APN 8 86,085,671 (GRCm39) missense possibly damaging 0.66
IGL01995:Mylk3 APN 8 86,085,890 (GRCm39) missense possibly damaging 0.83
IGL02003:Mylk3 APN 8 86,085,727 (GRCm39) missense probably benign
IGL02251:Mylk3 APN 8 86,081,805 (GRCm39) missense probably benign 0.04
IGL02252:Mylk3 APN 8 86,082,105 (GRCm39) missense probably benign 0.04
IGL02341:Mylk3 APN 8 86,078,601 (GRCm39) missense probably damaging 1.00
IGL02352:Mylk3 APN 8 86,081,931 (GRCm39) missense probably benign 0.00
IGL02359:Mylk3 APN 8 86,081,931 (GRCm39) missense probably benign 0.00
IGL03000:Mylk3 APN 8 86,085,806 (GRCm39) missense probably damaging 0.97
IGL03185:Mylk3 APN 8 86,053,833 (GRCm39) missense probably damaging 0.97
IGL03404:Mylk3 APN 8 86,069,310 (GRCm39) missense probably damaging 1.00
R0005:Mylk3 UTSW 8 86,053,832 (GRCm39) missense possibly damaging 0.93
R0219:Mylk3 UTSW 8 86,081,873 (GRCm39) missense probably damaging 0.99
R0324:Mylk3 UTSW 8 86,079,535 (GRCm39) missense probably damaging 0.98
R0667:Mylk3 UTSW 8 86,081,794 (GRCm39) critical splice donor site probably null
R1711:Mylk3 UTSW 8 86,091,460 (GRCm39) missense probably damaging 1.00
R1857:Mylk3 UTSW 8 86,055,223 (GRCm39) missense probably damaging 0.98
R1875:Mylk3 UTSW 8 86,079,494 (GRCm39) missense probably damaging 1.00
R1878:Mylk3 UTSW 8 86,082,028 (GRCm39) missense possibly damaging 0.82
R1916:Mylk3 UTSW 8 86,053,821 (GRCm39) missense probably damaging 1.00
R3887:Mylk3 UTSW 8 86,078,676 (GRCm39) missense probably damaging 1.00
R4081:Mylk3 UTSW 8 86,055,311 (GRCm39) missense probably damaging 1.00
R4775:Mylk3 UTSW 8 86,085,689 (GRCm39) nonsense probably null
R4796:Mylk3 UTSW 8 86,077,014 (GRCm39) missense probably damaging 1.00
R4974:Mylk3 UTSW 8 86,091,412 (GRCm39) missense probably damaging 0.97
R5108:Mylk3 UTSW 8 86,085,721 (GRCm39) missense possibly damaging 0.83
R5194:Mylk3 UTSW 8 86,079,495 (GRCm39) missense probably benign 0.26
R5276:Mylk3 UTSW 8 86,082,071 (GRCm39) missense probably damaging 1.00
R5296:Mylk3 UTSW 8 86,082,060 (GRCm39) missense possibly damaging 0.66
R5303:Mylk3 UTSW 8 86,077,105 (GRCm39) missense probably damaging 1.00
R5338:Mylk3 UTSW 8 86,069,350 (GRCm39) missense probably damaging 1.00
R5957:Mylk3 UTSW 8 86,055,266 (GRCm39) missense probably damaging 0.98
R6021:Mylk3 UTSW 8 86,091,442 (GRCm39) missense possibly damaging 0.92
R6294:Mylk3 UTSW 8 86,077,012 (GRCm39) missense probably damaging 1.00
R6305:Mylk3 UTSW 8 86,077,048 (GRCm39) missense probably damaging 1.00
R6376:Mylk3 UTSW 8 86,085,571 (GRCm39) missense possibly damaging 0.53
R6970:Mylk3 UTSW 8 86,085,892 (GRCm39) missense probably damaging 0.97
R7081:Mylk3 UTSW 8 86,091,422 (GRCm39) missense probably benign 0.10
R7170:Mylk3 UTSW 8 86,077,114 (GRCm39) missense probably damaging 1.00
R7318:Mylk3 UTSW 8 86,085,726 (GRCm39) missense probably benign
R7422:Mylk3 UTSW 8 86,081,873 (GRCm39) missense probably benign 0.16
R7503:Mylk3 UTSW 8 86,080,218 (GRCm39) missense probably benign 0.00
R7536:Mylk3 UTSW 8 86,080,233 (GRCm39) missense probably benign 0.05
R8556:Mylk3 UTSW 8 86,053,902 (GRCm39) missense possibly damaging 0.78
R8731:Mylk3 UTSW 8 86,085,634 (GRCm39) missense probably benign 0.01
R8770:Mylk3 UTSW 8 86,091,460 (GRCm39) missense probably damaging 1.00
R8804:Mylk3 UTSW 8 86,085,874 (GRCm39) missense probably benign 0.10
R9064:Mylk3 UTSW 8 86,081,940 (GRCm39) missense probably benign
R9296:Mylk3 UTSW 8 86,085,561 (GRCm39) missense probably benign 0.01
R9418:Mylk3 UTSW 8 86,091,444 (GRCm39) missense possibly damaging 0.67
Z1176:Mylk3 UTSW 8 86,091,808 (GRCm39)
Z1177:Mylk3 UTSW 8 86,091,808 (GRCm39)
Z1177:Mylk3 UTSW 8 86,085,823 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- AGTAGGCCGCTCACACAAATGAGG -3'
(R):5'- GGATTATCCAGGGGCGAATGATCAC -3'

Sequencing Primer
(F):5'- AGACATCAAGTTTCTGCTTGGC -3'
(R):5'- CGAATGATCACTAAGGTAACAGC -3'
Posted On 2013-05-09