Incidental Mutation 'IGL01431:Mylk3'
ID 84119
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mylk3
Ensembl Gene ENSMUSG00000031698
Gene Name myosin light chain kinase 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.251) question?
Stock # IGL01431
Quality Score
Status
Chromosome 8
Chromosomal Location 85324303-85386345 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85336401 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 537 (D537G)
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: D670G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: D670G

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: D607G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: D607G

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: D537G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: D537G

DomainStartEndE-ValueType
low complexity region 171 183 N/A INTRINSIC
S_TKc 358 613 6.93e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151550
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,225,395 probably benign Het
Adamts7 A G 9: 90,207,785 I897T possibly damaging Het
Aqp2 G A 15: 99,579,420 V90M possibly damaging Het
Atf6 T C 1: 170,853,002 probably benign Het
Cdh3 T C 8: 106,547,669 Y607H probably damaging Het
Cer1 T A 4: 82,882,831 E198D probably benign Het
Dscam A G 16: 96,652,078 probably null Het
Ecel1 C T 1: 87,151,504 R484H probably damaging Het
Entpd7 C A 19: 43,729,839 H575Q probably benign Het
F11r T C 1: 171,462,909 V279A probably damaging Het
Gm17093 T A 14: 44,521,665 probably benign Het
Got1 T A 19: 43,503,049 K321* probably null Het
Gpn1 T C 5: 31,507,538 V302A probably benign Het
Hivep1 G T 13: 42,158,017 K1244N probably damaging Het
Idh3b T C 2: 130,281,897 T116A possibly damaging Het
Itgb4 C A 11: 116,006,457 probably benign Het
Mybl1 G T 1: 9,672,647 L579I probably damaging Het
Myh14 T A 7: 44,614,358 T1694S probably null Het
Myo1d A C 11: 80,674,839 F387V probably damaging Het
Nek9 T C 12: 85,314,587 Y448C probably benign Het
Olfr1090 A T 2: 86,754,164 H191Q probably benign Het
Paxbp1 T C 16: 91,035,916 probably benign Het
Retreg2 T A 1: 75,145,105 probably null Het
Ripply3 G A 16: 94,328,543 C16Y possibly damaging Het
Robo3 G A 9: 37,419,111 probably benign Het
Rrm1 C A 7: 102,457,552 probably benign Het
Rsad2 T A 12: 26,448,667 R269S probably benign Het
Sbp A T 17: 23,945,348 probably benign Het
Schip1 A T 3: 68,617,777 Q162L probably damaging Het
Senp1 T C 15: 98,082,263 Y67C probably damaging Het
Slc25a25 C T 2: 32,419,091 R233K probably damaging Het
Smoc1 C A 12: 81,152,751 S220* probably null Het
Stab1 C A 14: 31,148,995 R1299I probably benign Het
Stk17b A G 1: 53,765,915 probably benign Het
Tmc7 T G 7: 118,552,762 D312A probably damaging Het
Vmn1r79 T C 7: 12,176,400 S70P possibly damaging Het
Zfc3h1 C A 10: 115,423,223 T1591K possibly damaging Het
Other mutations in Mylk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Mylk3 APN 8 85355526 nonsense probably null
IGL01088:Mylk3 APN 8 85351957 splice site probably null
IGL01488:Mylk3 APN 8 85352027 missense probably damaging 1.00
IGL01550:Mylk3 APN 8 85365089 missense probably damaging 1.00
IGL01786:Mylk3 APN 8 85359317 missense probably benign 0.27
IGL01877:Mylk3 APN 8 85359042 missense possibly damaging 0.66
IGL01995:Mylk3 APN 8 85359261 missense possibly damaging 0.83
IGL02003:Mylk3 APN 8 85359098 missense probably benign
IGL02251:Mylk3 APN 8 85355176 missense probably benign 0.04
IGL02252:Mylk3 APN 8 85355476 missense probably benign 0.04
IGL02341:Mylk3 APN 8 85351972 missense probably damaging 1.00
IGL02352:Mylk3 APN 8 85355302 missense probably benign 0.00
IGL02359:Mylk3 APN 8 85355302 missense probably benign 0.00
IGL03000:Mylk3 APN 8 85359177 missense probably damaging 0.97
IGL03185:Mylk3 APN 8 85327204 missense probably damaging 0.97
IGL03404:Mylk3 APN 8 85342681 missense probably damaging 1.00
R0005:Mylk3 UTSW 8 85327203 missense possibly damaging 0.93
R0219:Mylk3 UTSW 8 85355244 missense probably damaging 0.99
R0324:Mylk3 UTSW 8 85352906 missense probably damaging 0.98
R0402:Mylk3 UTSW 8 85352910 missense probably damaging 1.00
R0667:Mylk3 UTSW 8 85355165 critical splice donor site probably null
R1711:Mylk3 UTSW 8 85364831 missense probably damaging 1.00
R1857:Mylk3 UTSW 8 85328594 missense probably damaging 0.98
R1875:Mylk3 UTSW 8 85352865 missense probably damaging 1.00
R1878:Mylk3 UTSW 8 85355399 missense possibly damaging 0.82
R1916:Mylk3 UTSW 8 85327192 missense probably damaging 1.00
R3887:Mylk3 UTSW 8 85352047 missense probably damaging 1.00
R4081:Mylk3 UTSW 8 85328682 missense probably damaging 1.00
R4775:Mylk3 UTSW 8 85359060 nonsense probably null
R4796:Mylk3 UTSW 8 85350385 missense probably damaging 1.00
R4974:Mylk3 UTSW 8 85364783 missense probably damaging 0.97
R5108:Mylk3 UTSW 8 85359092 missense possibly damaging 0.83
R5194:Mylk3 UTSW 8 85352866 missense probably benign 0.26
R5276:Mylk3 UTSW 8 85355442 missense probably damaging 1.00
R5296:Mylk3 UTSW 8 85355431 missense possibly damaging 0.66
R5303:Mylk3 UTSW 8 85350476 missense probably damaging 1.00
R5338:Mylk3 UTSW 8 85342721 missense probably damaging 1.00
R5957:Mylk3 UTSW 8 85328637 missense probably damaging 0.98
R6021:Mylk3 UTSW 8 85364813 missense possibly damaging 0.92
R6294:Mylk3 UTSW 8 85350383 missense probably damaging 1.00
R6305:Mylk3 UTSW 8 85350419 missense probably damaging 1.00
R6376:Mylk3 UTSW 8 85358942 missense possibly damaging 0.53
R6970:Mylk3 UTSW 8 85359263 missense probably damaging 0.97
R7081:Mylk3 UTSW 8 85364793 missense probably benign 0.10
R7170:Mylk3 UTSW 8 85350485 missense probably damaging 1.00
R7318:Mylk3 UTSW 8 85359097 missense probably benign
R7422:Mylk3 UTSW 8 85355244 missense probably benign 0.16
R7503:Mylk3 UTSW 8 85353589 missense probably benign 0.00
R7536:Mylk3 UTSW 8 85353604 missense probably benign 0.05
R8556:Mylk3 UTSW 8 85327273 missense possibly damaging 0.78
R8731:Mylk3 UTSW 8 85359005 missense probably benign 0.01
R8770:Mylk3 UTSW 8 85364831 missense probably damaging 1.00
R8804:Mylk3 UTSW 8 85359245 missense probably benign 0.10
R9064:Mylk3 UTSW 8 85355311 missense probably benign
R9296:Mylk3 UTSW 8 85358932 missense probably benign 0.01
R9418:Mylk3 UTSW 8 85364815 missense possibly damaging 0.67
Z1176:Mylk3 UTSW 8 85365179
Z1177:Mylk3 UTSW 8 85359194 missense probably benign 0.14
Z1177:Mylk3 UTSW 8 85365179
Posted On 2013-11-11