Incidental Mutation 'R6294:Mylk3'
ID 508609
Institutional Source Beutler Lab
Gene Symbol Mylk3
Ensembl Gene ENSMUSG00000031698
Gene Name myosin light chain kinase 3
Synonyms D830007F02Rik
MMRRC Submission 044406-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R6294 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 86050933-86112969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86077012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 475 (I475F)
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: I608F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: I608F

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 probably damaging
Transcript: ENSMUST00000121972
AA Change: I545F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: I545F

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: I475F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: I475F

DomainStartEndE-ValueType
low complexity region 171 183 N/A INTRINSIC
S_TKc 358 613 6.93e-91 SMART
Meta Mutation Damage Score 0.3061 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 99% (71/72)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,631,440 (GRCm39) H579L probably benign Het
Aldh2 G A 5: 121,710,879 (GRCm39) Q8* probably null Het
Ankdd1a G T 9: 65,427,446 (GRCm39) H10Q probably benign Het
Arpp21 A G 9: 111,956,520 (GRCm39) F453L probably damaging Het
Birc6 C A 17: 74,996,252 (GRCm39) D4461E probably benign Het
Cacna1b A T 2: 24,609,069 (GRCm39) S411T possibly damaging Het
Camk2g A G 14: 20,815,017 (GRCm39) I203T probably damaging Het
Cat A T 2: 103,290,640 (GRCm39) C425S probably benign Het
Ccdc34 A G 2: 109,848,496 (GRCm39) D95G probably benign Het
Clca4b T C 3: 144,630,946 (GRCm39) S305G probably null Het
Cul7 T C 17: 46,974,074 (GRCm39) I1453T probably benign Het
Dlg1 T A 16: 31,656,942 (GRCm39) I612N probably damaging Het
Dync2h1 T G 9: 7,084,986 (GRCm39) K561T probably benign Het
Erbin T C 13: 103,993,564 (GRCm39) T359A probably benign Het
Far2 T A 6: 148,058,980 (GRCm39) L222Q probably damaging Het
Fbxw17 A G 13: 50,577,839 (GRCm39) E114G probably benign Het
Fryl A T 5: 73,349,102 (GRCm39) probably benign Het
Ggn A G 7: 28,873,273 (GRCm39) D666G possibly damaging Het
Hal G A 10: 93,350,005 (GRCm39) probably null Het
Htt A G 5: 34,979,170 (GRCm39) D851G probably benign Het
Ighv14-2 A T 12: 113,958,218 (GRCm39) D74E probably benign Het
Igkv5-43 G A 6: 69,800,426 (GRCm39) S87L probably damaging Het
Klhl29 A T 12: 5,133,995 (GRCm39) F720I probably damaging Het
Klk1b8 T A 7: 43,602,196 (GRCm39) Y43N probably damaging Het
Krtap20-1 T A 16: 88,880,989 (GRCm39) Y7N unknown Het
Lama4 T A 10: 38,951,466 (GRCm39) F1070L probably damaging Het
Map4 A G 9: 109,831,814 (GRCm39) E98G possibly damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mki67 A G 7: 135,306,319 (GRCm39) M581T probably benign Het
Mtss2 T A 8: 111,453,960 (GRCm39) N43K possibly damaging Het
Nat14 C T 7: 4,927,073 (GRCm39) R82* probably null Het
Nckap1 T C 2: 80,371,858 (GRCm39) N324S probably benign Het
Nemp1 C T 10: 127,530,391 (GRCm39) T281M possibly damaging Het
Nrg3 A T 14: 38,119,196 (GRCm39) H425Q probably benign Het
Omd T A 13: 49,743,467 (GRCm39) N172K probably damaging Het
Or10c1 T C 17: 37,522,517 (GRCm39) T76A probably benign Het
Or12d12 T A 17: 37,610,444 (GRCm39) T290S probably benign Het
Or4f62 A G 2: 111,986,364 (GRCm39) I23V probably benign Het
Or52a33 A G 7: 103,288,798 (GRCm39) M183T probably damaging Het
Or52r1c A T 7: 102,734,874 (GRCm39) I45F probably benign Het
Or5b123 T C 19: 13,596,730 (GRCm39) V25A probably benign Het
Orc1 T C 4: 108,447,867 (GRCm39) I38T probably benign Het
Oxct1 A G 15: 4,172,304 (GRCm39) T457A possibly damaging Het
Pcdh17 A T 14: 84,715,108 (GRCm39) K924N probably benign Het
Pkhd1l1 A T 15: 44,433,424 (GRCm39) I3435F probably damaging Het
Psg20 C A 7: 18,416,604 (GRCm39) V171F probably damaging Het
Rab11fip2 A T 19: 59,925,531 (GRCm39) S87T probably damaging Het
Rabgap1l T C 1: 160,059,419 (GRCm39) T237A probably benign Het
Rasgrp1 A T 2: 117,122,273 (GRCm39) Y372* probably null Het
Rell1 G T 5: 64,097,048 (GRCm39) probably benign Het
Rps14 A G 18: 60,910,033 (GRCm39) K61E possibly damaging Het
Rtl6 A G 15: 84,441,321 (GRCm39) V25A possibly damaging Het
Ryr2 G T 13: 11,894,382 (GRCm39) S185R probably damaging Het
Slc10a2 C T 8: 5,141,621 (GRCm39) probably null Het
Slc14a1 T A 18: 78,153,273 (GRCm39) probably null Het
Smad2 A T 18: 76,422,233 (GRCm39) N215I probably benign Het
Smchd1 A T 17: 71,677,922 (GRCm39) N1473K probably benign Het
Spag9 A G 11: 93,984,311 (GRCm39) probably null Het
Stk31 A C 6: 49,394,278 (GRCm39) R213S probably benign Het
Tmod4 A T 3: 95,035,617 (GRCm39) Q255L probably benign Het
Tnpo1 T A 13: 99,027,282 (GRCm39) Y3F probably benign Het
Tom1l1 A C 11: 90,552,587 (GRCm39) Y206* probably null Het
Tulp2 A G 7: 45,164,116 (GRCm39) K36E probably damaging Het
Tulp4 C T 17: 6,252,094 (GRCm39) R282C probably damaging Het
Unc5b A T 10: 60,614,110 (GRCm39) N246K possibly damaging Het
Ush2a C G 1: 188,268,567 (GRCm39) S1674R possibly damaging Het
Vmn1r224 T C 17: 20,640,083 (GRCm39) I220T probably benign Het
Vmn1r7 G C 6: 57,001,404 (GRCm39) N285K probably benign Het
Vmn2r83 C T 10: 79,313,688 (GRCm39) P99S probably damaging Het
Zbtb38 A G 9: 96,569,282 (GRCm39) F601L probably benign Het
Zc3h3 A T 15: 75,681,417 (GRCm39) S555T possibly damaging 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
R0402:Mylk3 UTSW 8 86,079,539 (GRCm39) missense probably damaging 1.00
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
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'- GGGGCTATAGATCACTTGCCTAG -3'
(R):5'- TGAGTGTCCAGTAGGCTGTGAC -3'

Sequencing Primer
(F):5'- TGCCTAGCTTGCAAAGGTG -3'
(R):5'- GGCTGTGACCAATTTTAGGAACACC -3'
Posted On 2018-03-15