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
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.259) question?
Stock # IGL01870
Quality Score
Status
Chromosome 2
Chromosomal Location 152911352-152923068 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152915214 bp (GRCm38)
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: 30,381,327 D125G probably damaging Het
Arhgap31 T C 16: 38,618,242 K300E probably damaging Het
Cma2 C A 14: 55,973,737 S162Y probably benign Het
Cntn4 A G 6: 106,489,715 T193A possibly damaging Het
Col22a1 T A 15: 71,952,528 M556L probably benign Het
Dld A G 12: 31,335,467 S292P possibly damaging Het
Dnah6 A T 6: 73,032,569 D3746E probably benign Het
Eea1 A G 10: 95,973,986 T9A probably damaging Het
Fam102a T C 2: 32,566,282 S319P probably benign Het
Gbf1 A G 19: 46,285,669 K1714R probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm12794 T A 4: 101,940,690 L95H probably benign Het
H2-M1 A T 17: 36,670,063 M327K probably benign Het
Ifnz T A 4: 88,783,311 S176T possibly damaging Het
Irak4 T C 15: 94,547,870 Y10H probably benign Het
Irx5 T C 8: 92,359,777 F163L probably damaging Het
Jak3 C T 8: 71,680,790 P376S probably damaging Het
Lrrc25 T C 8: 70,617,787 S73P possibly damaging Het
Macf1 C T 4: 123,474,113 G2285D probably damaging Het
Muc4 A T 16: 32,753,196 T1025S probably benign Het
Olfr111 G A 17: 37,530,664 R229H probably benign Het
Pcnx T C 12: 81,975,893 V1512A probably benign Het
Phlda3 A G 1: 135,766,638 S64G probably benign Het
Pptc7 C A 5: 122,313,602 S40R probably damaging Het
Ptpn4 A C 1: 119,675,547 probably null Het
Slc10a1 T C 12: 80,960,528 M160V probably benign Het
Stac T C 9: 111,572,332 I349V probably benign Het
Synm A G 7: 67,736,118 S157P possibly damaging Het
Tbc1d9b T C 11: 50,162,088 L924P probably damaging Het
Tcaf2 C T 6: 42,624,477 V883I possibly damaging Het
Upp1 T C 11: 9,125,700 probably null Het
Whamm C T 7: 81,595,974 T726I probably damaging Het
Other mutations in Mylk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02097:Mylk2 APN 2 152915136 missense probably damaging 0.98
IGL02158:Mylk2 APN 2 152919157 missense probably damaging 1.00
IGL02189:Mylk2 APN 2 152915154 missense probably damaging 1.00
IGL02243:Mylk2 APN 2 152920553 missense probably damaging 1.00
IGL02716:Mylk2 APN 2 152922153 makesense probably null
IGL02946:Mylk2 APN 2 152919210 nonsense probably null
IGL03105:Mylk2 APN 2 152917359 missense possibly damaging 0.94
R1184:Mylk2 UTSW 2 152913741 critical splice donor site probably null
R1443:Mylk2 UTSW 2 152919416 missense probably damaging 1.00
R1957:Mylk2 UTSW 2 152917607 missense possibly damaging 0.86
R2496:Mylk2 UTSW 2 152913668 missense probably damaging 1.00
R2870:Mylk2 UTSW 2 152919348 missense probably damaging 1.00
R2870:Mylk2 UTSW 2 152919348 missense probably damaging 1.00
R3081:Mylk2 UTSW 2 152919354 missense probably benign 0.31
R4510:Mylk2 UTSW 2 152917410 missense probably damaging 1.00
R4511:Mylk2 UTSW 2 152917410 missense probably damaging 1.00
R4600:Mylk2 UTSW 2 152917556 missense probably damaging 1.00
R4633:Mylk2 UTSW 2 152917415 missense probably benign 0.00
R4890:Mylk2 UTSW 2 152920354 missense possibly damaging 0.88
R5267:Mylk2 UTSW 2 152913549 missense probably benign
R5430:Mylk2 UTSW 2 152917548 missense probably damaging 1.00
R5447:Mylk2 UTSW 2 152912510 missense probably damaging 0.96
R6167:Mylk2 UTSW 2 152915753 splice site probably null
R6327:Mylk2 UTSW 2 152913693 missense possibly damaging 0.77
R6391:Mylk2 UTSW 2 152917395 missense probably damaging 1.00
R6913:Mylk2 UTSW 2 152913690 missense possibly damaging 0.76
R7066:Mylk2 UTSW 2 152911668 splice site probably null
R7092:Mylk2 UTSW 2 152915190 missense probably benign 0.21
R7403:Mylk2 UTSW 2 152917341 missense probably damaging 1.00
R7442:Mylk2 UTSW 2 152911426 start gained probably benign
R7443:Mylk2 UTSW 2 152911426 start gained probably benign
R7453:Mylk2 UTSW 2 152912433 missense probably damaging 1.00
R7477:Mylk2 UTSW 2 152920341 missense probably damaging 1.00
R7529:Mylk2 UTSW 2 152915704 missense probably damaging 1.00
R8029:Mylk2 UTSW 2 152920299 missense probably damaging 1.00
R9339:Mylk2 UTSW 2 152913450 missense probably damaging 1.00
Z1177:Mylk2 UTSW 2 152920330 missense probably damaging 1.00
Posted On 2014-05-07