Incidental Mutation 'IGL03142:Mylk4'
ID 410737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mylk4
Ensembl Gene ENSMUSG00000044951
Gene Name myosin light chain kinase family, member 4
Synonyms EG238564
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03142
Quality Score
Status
Chromosome 13
Chromosomal Location 32884810-32967937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32904582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 415 (V415E)
Ref Sequence ENSEMBL: ENSMUSP00000155702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057428] [ENSMUST00000230119]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057428
AA Change: V184E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060149
Gene: ENSMUSG00000044951
AA Change: V184E

DomainStartEndE-ValueType
S_TKc 107 362 4.2e-90 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000134352
AA Change: V183E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116013
Gene: ENSMUSG00000044951
AA Change: V183E

DomainStartEndE-ValueType
S_TKc 107 361 1.01e-83 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000230119
AA Change: V415E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,913,457 (GRCm39) S523G probably damaging Het
Ccnb1 A T 13: 100,920,039 (GRCm39) D157E probably damaging Het
Cep43 T A 17: 8,411,041 (GRCm39) S331R probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Frmpd4 T A X: 166,262,479 (GRCm39) D550V possibly damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Has2 A T 15: 56,545,491 (GRCm39) I37N possibly damaging Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Klhl29 T A 12: 5,187,603 (GRCm39) N254Y probably damaging Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mgat5 A C 1: 127,339,960 (GRCm39) Q447P probably damaging Het
Mlh3 C A 12: 85,297,075 (GRCm39) probably null Het
Mrpl45 T C 11: 97,206,751 (GRCm39) W18R probably benign Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Or4d11 A T 19: 12,013,752 (GRCm39) M118K probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pkn1 A G 8: 84,397,652 (GRCm39) F824L possibly damaging Het
Pspn C T 17: 57,306,566 (GRCm39) R121Q probably benign Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tbce A G 13: 14,194,449 (GRCm39) V70A possibly damaging Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G possibly damaging Het
Other mutations in Mylk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Mylk4 APN 13 32,899,905 (GRCm39) missense probably damaging 1.00
IGL01799:Mylk4 APN 13 32,965,674 (GRCm39) missense probably benign 0.00
IGL01985:Mylk4 APN 13 32,901,564 (GRCm39) missense possibly damaging 0.81
IGL02105:Mylk4 APN 13 32,904,545 (GRCm39) missense probably benign 0.17
IGL02270:Mylk4 APN 13 32,913,049 (GRCm39) splice site probably benign
IGL02377:Mylk4 APN 13 32,906,130 (GRCm39) missense possibly damaging 0.69
R0550:Mylk4 UTSW 13 32,900,649 (GRCm39) missense probably benign 0.00
R0599:Mylk4 UTSW 13 32,896,737 (GRCm39) splice site probably null
R1070:Mylk4 UTSW 13 32,908,801 (GRCm39) missense probably benign 0.05
R1520:Mylk4 UTSW 13 32,896,821 (GRCm39) splice site probably null
R1658:Mylk4 UTSW 13 32,896,772 (GRCm39) missense possibly damaging 0.77
R1917:Mylk4 UTSW 13 32,908,836 (GRCm39) missense probably benign 0.00
R1918:Mylk4 UTSW 13 32,908,836 (GRCm39) missense probably benign 0.00
R1919:Mylk4 UTSW 13 32,908,836 (GRCm39) missense probably benign 0.00
R2187:Mylk4 UTSW 13 32,905,996 (GRCm39) missense probably damaging 0.97
R2568:Mylk4 UTSW 13 32,906,001 (GRCm39) missense probably null 0.97
R4832:Mylk4 UTSW 13 32,905,960 (GRCm39) missense probably benign 0.04
R5268:Mylk4 UTSW 13 32,892,864 (GRCm39) splice site probably null
R6801:Mylk4 UTSW 13 32,912,393 (GRCm39) missense probably benign 0.07
R6894:Mylk4 UTSW 13 32,905,998 (GRCm39) missense probably damaging 1.00
R7302:Mylk4 UTSW 13 32,904,548 (GRCm39) missense probably benign 0.39
R7329:Mylk4 UTSW 13 32,900,766 (GRCm39) missense probably damaging 1.00
R7634:Mylk4 UTSW 13 32,892,891 (GRCm39) missense possibly damaging 0.88
R7702:Mylk4 UTSW 13 32,904,585 (GRCm39) critical splice acceptor site probably null
R7944:Mylk4 UTSW 13 32,911,096 (GRCm39) missense probably benign 0.02
R8256:Mylk4 UTSW 13 32,904,522 (GRCm39) missense probably damaging 1.00
R8777:Mylk4 UTSW 13 32,913,089 (GRCm39) missense probably benign 0.00
R8777-TAIL:Mylk4 UTSW 13 32,913,089 (GRCm39) missense probably benign 0.00
R9367:Mylk4 UTSW 13 32,960,236 (GRCm39) missense possibly damaging 0.66
R9509:Mylk4 UTSW 13 32,904,543 (GRCm39) missense probably benign 0.07
R9794:Mylk4 UTSW 13 32,899,950 (GRCm39) missense probably damaging 1.00
R9796:Mylk4 UTSW 13 32,900,643 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02