Incidental Mutation 'IGL02946:Mylk2'
ID 364726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mylk2
Ensembl Gene ENSMUSG00000027470
Gene Name myosin, light polypeptide kinase 2, skeletal muscle
Synonyms 9830004H17Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # IGL02946
Quality Score
Status
Chromosome 2
Chromosomal Location 152753272-152764988 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 152761130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 446 (L446*)
Ref Sequence ENSEMBL: ENSMUSP00000028970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028970]
AlphaFold Q8VCR8
Predicted Effect probably null
Transcript: ENSMUST00000028970
AA Change: L446*
SMART Domains Protein: ENSMUSP00000028970
Gene: ENSMUSG00000027470
AA Change: L446*

DomainStartEndE-ValueType
low complexity region 90 122 N/A INTRINSIC
low complexity region 142 157 N/A INTRINSIC
low complexity region 216 228 N/A INTRINSIC
low complexity region 278 285 N/A INTRINSIC
S_TKc 302 557 6.08e-87 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout mice display impaired skeletal muscle twitch tension response to tetanic stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,919,041 (GRCm39) probably benign Het
Actr3b T C 5: 26,053,481 (GRCm39) I270T possibly damaging Het
Adgrf2 T C 17: 43,021,384 (GRCm39) Y480C probably damaging Het
Arhgap27 T C 11: 103,229,174 (GRCm39) T514A probably damaging Het
BC031181 C T 18: 75,141,736 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ccm2 G A 11: 6,546,195 (GRCm39) R335H probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Crabp1 T C 9: 54,672,232 (GRCm39) F16S possibly damaging Het
Crmp1 C T 5: 37,441,424 (GRCm39) A502V probably damaging Het
Ehhadh A T 16: 21,581,672 (GRCm39) V440D probably damaging Het
Galnt3 T A 2: 65,925,562 (GRCm39) I392L probably damaging Het
Gm12689 T A 4: 99,184,490 (GRCm39) N114K unknown Het
Hspa2 A G 12: 76,451,947 (GRCm39) T214A probably damaging Het
Itga7 T C 10: 128,769,952 (GRCm39) I32T probably benign Het
Itgal A G 7: 126,913,540 (GRCm39) S682G probably damaging Het
Kctd1 C T 18: 15,107,036 (GRCm39) probably null Het
Lrp1b T A 2: 41,202,571 (GRCm39) D439V probably damaging Het
Mdn1 A G 4: 32,734,366 (GRCm39) K3258E probably damaging Het
Mgat4c T C 10: 102,225,114 (GRCm39) S443P probably benign Het
Mylk G A 16: 34,742,158 (GRCm39) G890E probably benign Het
Niban1 A T 1: 151,525,176 (GRCm39) I194F probably damaging Het
Or2t26 T G 11: 49,039,719 (GRCm39) F212V probably damaging Het
Pi4k2b T C 5: 52,910,549 (GRCm39) F278L probably damaging Het
Pitpnm3 A G 11: 71,983,378 (GRCm39) S84P probably benign Het
Plxna2 T C 1: 194,431,617 (GRCm39) probably benign Het
Prr5l C A 2: 101,602,529 (GRCm39) probably null Het
Ptprs T C 17: 56,731,032 (GRCm39) T719A probably benign Het
Rasa3 T C 8: 13,648,280 (GRCm39) H128R probably benign Het
Rhox13 A G X: 37,218,652 (GRCm39) K205E probably damaging Het
Rif1 C A 2: 52,000,137 (GRCm39) S1197* probably null Het
Sgta A G 10: 80,885,612 (GRCm39) probably benign Het
Slc25a5 T A X: 36,061,506 (GRCm39) M239K probably damaging Het
Stil T A 4: 114,887,110 (GRCm39) H734Q probably benign Het
Stk32b T C 5: 37,688,883 (GRCm39) probably benign Het
Ubr4 T G 4: 139,152,606 (GRCm39) F1999C probably damaging Het
Wfdc2 A C 2: 164,406,009 (GRCm39) T86P probably benign Het
Zfp407 T C 18: 84,578,834 (GRCm39) S760G probably damaging Het
Zfp668 A T 7: 127,465,690 (GRCm39) L498Q possibly damaging Het
Other mutations in Mylk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01870:Mylk2 APN 2 152,757,134 (GRCm39) missense probably benign 0.20
IGL02097:Mylk2 APN 2 152,757,056 (GRCm39) missense probably damaging 0.98
IGL02158:Mylk2 APN 2 152,761,077 (GRCm39) missense probably damaging 1.00
IGL02189:Mylk2 APN 2 152,757,074 (GRCm39) missense probably damaging 1.00
IGL02243:Mylk2 APN 2 152,762,473 (GRCm39) missense probably damaging 1.00
IGL02716:Mylk2 APN 2 152,764,073 (GRCm39) makesense probably null
IGL03105:Mylk2 APN 2 152,759,279 (GRCm39) missense possibly damaging 0.94
R1184:Mylk2 UTSW 2 152,755,661 (GRCm39) critical splice donor site probably null
R1443:Mylk2 UTSW 2 152,761,336 (GRCm39) missense probably damaging 1.00
R1957:Mylk2 UTSW 2 152,759,527 (GRCm39) missense possibly damaging 0.86
R2496:Mylk2 UTSW 2 152,755,588 (GRCm39) missense probably damaging 1.00
R2870:Mylk2 UTSW 2 152,761,268 (GRCm39) missense probably damaging 1.00
R2870:Mylk2 UTSW 2 152,761,268 (GRCm39) missense probably damaging 1.00
R3081:Mylk2 UTSW 2 152,761,274 (GRCm39) missense probably benign 0.31
R4510:Mylk2 UTSW 2 152,759,330 (GRCm39) missense probably damaging 1.00
R4511:Mylk2 UTSW 2 152,759,330 (GRCm39) missense probably damaging 1.00
R4600:Mylk2 UTSW 2 152,759,476 (GRCm39) missense probably damaging 1.00
R4633:Mylk2 UTSW 2 152,759,335 (GRCm39) missense probably benign 0.00
R4890:Mylk2 UTSW 2 152,762,274 (GRCm39) missense possibly damaging 0.88
R5267:Mylk2 UTSW 2 152,755,469 (GRCm39) missense probably benign
R5430:Mylk2 UTSW 2 152,759,468 (GRCm39) missense probably damaging 1.00
R5447:Mylk2 UTSW 2 152,754,430 (GRCm39) missense probably damaging 0.96
R6167:Mylk2 UTSW 2 152,757,673 (GRCm39) splice site probably null
R6327:Mylk2 UTSW 2 152,755,613 (GRCm39) missense possibly damaging 0.77
R6391:Mylk2 UTSW 2 152,759,315 (GRCm39) missense probably damaging 1.00
R6913:Mylk2 UTSW 2 152,755,610 (GRCm39) missense possibly damaging 0.76
R7066:Mylk2 UTSW 2 152,753,588 (GRCm39) splice site probably null
R7092:Mylk2 UTSW 2 152,757,110 (GRCm39) missense probably benign 0.21
R7403:Mylk2 UTSW 2 152,759,261 (GRCm39) missense probably damaging 1.00
R7442:Mylk2 UTSW 2 152,753,346 (GRCm39) start gained probably benign
R7443:Mylk2 UTSW 2 152,753,346 (GRCm39) start gained probably benign
R7453:Mylk2 UTSW 2 152,754,353 (GRCm39) missense probably damaging 1.00
R7477:Mylk2 UTSW 2 152,762,261 (GRCm39) missense probably damaging 1.00
R7529:Mylk2 UTSW 2 152,757,624 (GRCm39) missense probably damaging 1.00
R8029:Mylk2 UTSW 2 152,762,219 (GRCm39) missense probably damaging 1.00
R9339:Mylk2 UTSW 2 152,755,370 (GRCm39) missense probably damaging 1.00
R9462:Mylk2 UTSW 2 152,761,373 (GRCm39) missense probably damaging 1.00
R9525:Mylk2 UTSW 2 152,759,552 (GRCm39) missense probably damaging 0.99
Z1177:Mylk2 UTSW 2 152,762,250 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18