Incidental Mutation 'IGL01870:Mylk2'
ID 178693
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 # IGL01870
Quality Score
Status
Chromosome 2
Chromosomal Location 152753272-152764988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152757134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 303 (N303S)
Ref Sequence ENSEMBL: ENSMUSP00000028970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028970]
AlphaFold Q8VCR8
Predicted Effect probably benign
Transcript: ENSMUST00000028970
AA Change: N303S

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028970
Gene: ENSMUSG00000027470
AA Change: N303S

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a A G 13: 30,565,310 (GRCm39) D125G probably damaging Het
Arhgap31 T C 16: 38,438,604 (GRCm39) K300E probably damaging Het
Cma2 C A 14: 56,211,194 (GRCm39) S162Y probably benign Het
Cntn4 A G 6: 106,466,676 (GRCm39) T193A possibly damaging Het
Col22a1 T A 15: 71,824,377 (GRCm39) M556L probably benign Het
Dld A G 12: 31,385,466 (GRCm39) S292P possibly damaging Het
Dnah6 A T 6: 73,009,552 (GRCm39) D3746E probably benign Het
Eea1 A G 10: 95,809,848 (GRCm39) T9A probably damaging Het
Eeig1 T C 2: 32,456,294 (GRCm39) S319P probably benign Het
Gbf1 A G 19: 46,274,108 (GRCm39) K1714R probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
H2-M1 A T 17: 36,980,955 (GRCm39) M327K probably benign Het
Ifnz T A 4: 88,701,548 (GRCm39) S176T possibly damaging Het
Irak4 T C 15: 94,445,751 (GRCm39) Y10H probably benign Het
Irx5 T C 8: 93,086,405 (GRCm39) F163L probably damaging Het
Jak3 C T 8: 72,133,434 (GRCm39) P376S probably damaging Het
Lrrc25 T C 8: 71,070,437 (GRCm39) S73P possibly damaging Het
Macf1 C T 4: 123,367,906 (GRCm39) G2285D probably damaging Het
Muc4 A T 16: 32,574,624 (GRCm39) T1025S probably benign Het
Or5v1b G A 17: 37,841,555 (GRCm39) R229H probably benign Het
Pcnx1 T C 12: 82,022,667 (GRCm39) V1512A probably benign Het
Phlda3 A G 1: 135,694,376 (GRCm39) S64G probably benign Het
Pptc7 C A 5: 122,451,665 (GRCm39) S40R probably damaging Het
Pramel19 T A 4: 101,797,887 (GRCm39) L95H probably benign Het
Ptpn4 A C 1: 119,603,277 (GRCm39) probably null Het
Slc10a1 T C 12: 81,007,302 (GRCm39) M160V probably benign Het
Stac T C 9: 111,401,400 (GRCm39) I349V probably benign Het
Synm A G 7: 67,385,866 (GRCm39) S157P possibly damaging Het
Tbc1d9b T C 11: 50,052,915 (GRCm39) L924P probably damaging Het
Tcaf2 C T 6: 42,601,411 (GRCm39) V883I possibly damaging Het
Upp1 T C 11: 9,075,700 (GRCm39) probably null Het
Whamm C T 7: 81,245,722 (GRCm39) T726I probably damaging Het
Other mutations in Mylk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02946:Mylk2 APN 2 152,761,130 (GRCm39) nonsense 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 2014-05-07