Incidental Mutation 'R0667:Mylk3'
ID 62065
Institutional Source Beutler Lab
Gene Symbol Mylk3
Ensembl Gene ENSMUSG00000031698
Gene Name myosin light chain kinase 3
Synonyms D830007F02Rik
MMRRC Submission 038852-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R0667 (G1)
Quality Score 93
Status Validated
Chromosome 8
Chromosomal Location 86050933-86112969 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 86081794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034133] [ENSMUST00000034133] [ENSMUST00000034133] [ENSMUST00000034133] [ENSMUST00000034133] [ENSMUST00000121972] [ENSMUST00000121972] [ENSMUST00000121972] [ENSMUST00000121972] [ENSMUST00000121972] [ENSMUST00000122452] [ENSMUST00000122452] [ENSMUST00000122452] [ENSMUST00000122452] [ENSMUST00000122452] [ENSMUST00000137290]
AlphaFold Q3UIZ8
Predicted Effect probably null
Transcript: ENSMUST00000034133
SMART Domains Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698

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 null
Transcript: ENSMUST00000034133
SMART Domains Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698

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 null
Transcript: ENSMUST00000034133
SMART Domains Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698

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 null
Transcript: ENSMUST00000034133
SMART Domains Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698

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 null
Transcript: ENSMUST00000034133
SMART Domains Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698

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 null
Transcript: ENSMUST00000121972
SMART Domains Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698

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 null
Transcript: ENSMUST00000121972
SMART Domains Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698

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 null
Transcript: ENSMUST00000121972
SMART Domains Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698

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 null
Transcript: ENSMUST00000121972
SMART Domains Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698

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 null
Transcript: ENSMUST00000121972
SMART Domains Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698

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 null
Transcript: ENSMUST00000122452
SMART Domains Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698

DomainStartEndE-ValueType
low complexity region 171 183 N/A INTRINSIC
S_TKc 358 613 6.93e-91 SMART
Predicted Effect probably null
Transcript: ENSMUST00000122452
SMART Domains Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698

DomainStartEndE-ValueType
low complexity region 171 183 N/A INTRINSIC
S_TKc 358 613 6.93e-91 SMART
Predicted Effect probably null
Transcript: ENSMUST00000122452
SMART Domains Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698

DomainStartEndE-ValueType
low complexity region 171 183 N/A INTRINSIC
S_TKc 358 613 6.93e-91 SMART
Predicted Effect probably null
Transcript: ENSMUST00000122452
SMART Domains Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698

DomainStartEndE-ValueType
low complexity region 171 183 N/A INTRINSIC
S_TKc 358 613 6.93e-91 SMART
Predicted Effect probably null
Transcript: ENSMUST00000122452
SMART Domains Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698

DomainStartEndE-ValueType
low complexity region 171 183 N/A INTRINSIC
S_TKc 358 613 6.93e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137290
Meta Mutation Damage Score 0.9492 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G T 11: 110,218,637 (GRCm39) N76K probably benign Het
Adamts12 C T 15: 11,215,710 (GRCm39) R244C probably damaging Het
Atad2 A G 15: 57,962,115 (GRCm39) S1143P probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Cand1 A G 10: 119,052,425 (GRCm39) S234P probably benign Het
Cd200 T A 16: 45,215,220 (GRCm39) I144L probably benign Het
Cep76 A T 18: 67,767,848 (GRCm39) L228Q possibly damaging Het
Col12a1 A G 9: 79,535,744 (GRCm39) L2584S probably damaging Het
Col6a3 A C 1: 90,755,823 (GRCm39) D155E probably damaging Het
Col6a4 G A 9: 105,907,158 (GRCm39) probably benign Het
Dsg2 A C 18: 20,706,556 (GRCm39) D24A possibly damaging Het
Gm5901 G A 7: 105,026,697 (GRCm39) S155N possibly damaging Het
Hkdc1 T C 10: 62,247,644 (GRCm39) probably benign Het
Kansl1 A G 11: 104,234,364 (GRCm39) V714A probably benign Het
Kcnh1 T A 1: 192,188,346 (GRCm39) S936T probably benign Het
Klhdc3 A T 17: 46,988,151 (GRCm39) F205I probably benign Het
Krt31 T A 11: 99,938,951 (GRCm39) H290L probably benign Het
Lama2 T A 10: 27,220,406 (GRCm39) probably null Het
Mep1a T G 17: 43,789,081 (GRCm39) D565A probably benign Het
Mgme1 T A 2: 144,120,907 (GRCm39) probably benign Het
Mtf2 C T 5: 108,252,369 (GRCm39) T409I probably damaging Het
Myo1c A G 11: 75,559,338 (GRCm39) E650G probably damaging Het
Nipbl A C 15: 8,390,488 (GRCm39) D260E possibly damaging Het
Nufip2 T A 11: 77,582,839 (GRCm39) V251D possibly damaging Het
Or2n1e C A 17: 38,586,048 (GRCm39) P129T probably damaging Het
Or4a2 T C 2: 89,248,032 (GRCm39) I242V probably benign Het
Or7g35 T A 9: 19,496,743 (GRCm39) N303K probably benign Het
Osm G T 11: 4,189,918 (GRCm39) R234L possibly damaging Het
Pabpc1 G A 15: 36,598,275 (GRCm39) A515V probably benign Het
Piwil1 T A 5: 128,818,542 (GRCm39) probably null Het
Pld1 A G 3: 28,133,327 (GRCm39) probably null Het
Plekhg3 C T 12: 76,623,372 (GRCm39) R871C probably damaging Het
Ppfia2 A T 10: 106,749,555 (GRCm39) Y1147F probably damaging Het
Prmt3 A G 7: 49,441,743 (GRCm39) Y240C probably damaging Het
Prr36 G T 8: 4,266,311 (GRCm39) probably benign Het
Ptprd A G 4: 75,875,583 (GRCm39) I908T probably damaging Het
Sae1 A T 7: 16,102,457 (GRCm39) N172K probably damaging Het
Satb1 T G 17: 52,089,889 (GRCm39) Q319H probably damaging Het
Scart2 C G 7: 139,841,450 (GRCm39) S251R possibly damaging Het
Scn2a A T 2: 65,582,340 (GRCm39) I1563F possibly damaging Het
Scn3a C A 2: 65,314,755 (GRCm39) R1102L probably null Het
Serpinb9b T A 13: 33,216,909 (GRCm39) L60* probably null Het
Setd1a A G 7: 127,385,765 (GRCm39) D281G probably damaging Het
Slc8a1 C A 17: 81,956,310 (GRCm39) V243F probably damaging Het
Tgfbr3 A T 5: 107,325,716 (GRCm39) H115Q probably benign Het
Tiam1 C A 16: 89,694,872 (GRCm39) S195I probably damaging Het
Tjp2 A G 19: 24,086,113 (GRCm39) V803A probably benign Het
Ttc5 T A 14: 51,003,415 (GRCm39) Q423L probably benign Het
Tyk2 A C 9: 21,020,167 (GRCm39) V997G probably damaging Het
Uhrf1 T C 17: 56,617,677 (GRCm39) V133A probably benign Het
Vmn2r107 A C 17: 20,575,916 (GRCm39) Y82S possibly damaging Het
Vmn2r93 T C 17: 18,546,503 (GRCm39) F792L probably damaging Het
Vps13c G A 9: 67,858,855 (GRCm39) W2768* probably null Het
Zfp456 A T 13: 67,514,861 (GRCm39) C282S probably benign Het
Zhx1 T C 15: 57,916,561 (GRCm39) N562D possibly damaging Het
Zmynd15 G T 11: 70,355,944 (GRCm39) G481C probably 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
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'- AGCAGGGAAGTTGCTTTGAGAAACC -3'
(R):5'- GCCTTGGGACTGTGTTAGAAGACC -3'

Sequencing Primer
(F):5'- GTTGCTTTGAGAAACCTAGCCAG -3'
(R):5'- GACTGTGTTAGAAGACCAGATCCC -3'
Posted On 2013-07-30