Incidental Mutation 'IGL00978:Mylk3'
ID28084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mylk3
Ensembl Gene ENSMUSG00000031698
Gene Namemyosin light chain kinase 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.242) question?
Stock #IGL00978
Quality Score
Status
Chromosome8
Chromosomal Location85324303-85386345 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 85355526 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 211 (L211*)
Ref Sequence ENSEMBL: ENSMUSP00000113389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034133] [ENSMUST00000121972] [ENSMUST00000122452] [ENSMUST00000137290]
Predicted Effect probably null
Transcript: ENSMUST00000034133
AA Change: L344*
SMART Domains Protein: ENSMUSP00000034133
Gene: ENSMUSG00000031698
AA Change: L344*

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
AA Change: L281*
SMART Domains Protein: ENSMUSP00000113960
Gene: ENSMUSG00000031698
AA Change: L281*

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
AA Change: L211*
SMART Domains Protein: ENSMUSP00000113389
Gene: ENSMUSG00000031698
AA Change: L211*

DomainStartEndE-ValueType
low complexity region 171 183 N/A INTRINSIC
S_TKc 358 613 6.93e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138825
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009L18Rik T C 11: 120,350,947 probably benign Het
Alpk2 A T 18: 65,291,534 probably benign Het
Angptl8 T C 9: 21,837,053 probably benign Het
AU040320 T A 4: 126,828,839 D383E probably benign Het
Cep97 C T 16: 55,924,960 probably benign Het
Clcn4 A T 7: 7,287,673 L649H probably damaging Het
Col5a2 T C 1: 45,376,739 N1416S probably benign Het
Erbb2 C T 11: 98,435,630 P1027S probably damaging Het
Eya1 A G 1: 14,270,701 probably benign Het
Gfm2 T C 13: 97,162,977 I402T probably benign Het
Gmeb2 A T 2: 181,259,043 V187E probably benign Het
Hectd1 T C 12: 51,791,390 H662R possibly damaging Het
Ifne T C 4: 88,880,031 Q50R probably benign Het
Kidins220 A G 12: 25,057,474 D1642G probably damaging Het
Klhl32 T A 4: 24,682,245 D146V probably damaging Het
Krt36 T C 11: 100,102,948 I355V probably damaging Het
Lrrcc1 T A 3: 14,536,128 S73R possibly damaging Het
Ltbp3 A T 19: 5,754,019 H853L probably benign Het
Map3k5 G A 10: 20,141,567 R1369Q probably damaging Het
Mcm8 A G 2: 132,821,406 N148S probably benign Het
Nras T C 3: 103,058,916 probably benign Het
Olfr135 A T 17: 38,208,982 I246F probably damaging Het
Olfr670 A T 7: 104,960,716 N5K probably damaging Het
Os9 A T 10: 127,120,509 Y66N probably damaging Het
Pitpnm1 A G 19: 4,101,228 D15G possibly damaging Het
Reg3a A T 6: 78,382,301 R95* probably null Het
Rnf17 C T 14: 56,512,271 P1425S probably damaging Het
Smad2 T C 18: 76,299,775 probably benign Het
Ttll5 C T 12: 85,933,482 Q76* probably null Het
Uri1 A T 7: 37,996,731 probably benign Het
Vmn2r102 G T 17: 19,678,923 probably null Het
Vmn2r70 T G 7: 85,563,799 M467L probably benign Het
Zfp318 T A 17: 46,413,726 D2218E possibly damaging Het
Zfp692 T C 11: 58,314,029 I405T possibly damaging Het
Zfp692 A G 11: 58,309,998 H235R possibly damaging Het
Other mutations in Mylk3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Mylk3 APN 8 85351957 splice site probably null
IGL01431:Mylk3 APN 8 85336401 missense probably damaging 1.00
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
Z1176:Mylk3 UTSW 8 85365179
Z1177:Mylk3 UTSW 8 85359194 missense probably benign 0.14
Z1177:Mylk3 UTSW 8 85365179
Posted On2013-04-17