Incidental Mutation 'IGL02377:Mylk4'
ID291146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mylk4
Ensembl Gene ENSMUSG00000044951
Gene Namemyosin light chain kinase family, member 4
SynonymsEG238564
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02377
Quality Score
Status
Chromosome13
Chromosomal Location32700834-32783954 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32722147 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 145 (D145G)
Ref Sequence ENSEMBL: ENSMUSP00000060149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057428] [ENSMUST00000230119]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057428
AA Change: D145G

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000060149
Gene: ENSMUSG00000044951
AA Change: D145G

DomainStartEndE-ValueType
S_TKc 107 362 4.2e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134352
AA Change: D145G

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000116013
Gene: ENSMUSG00000044951
AA Change: D145G

DomainStartEndE-ValueType
S_TKc 107 361 1.01e-83 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000230119
AA Change: D376G

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578C19Rik T A X: 18,447,691 I131F possibly damaging Het
4931423N10Rik T C 2: 23,212,655 probably benign Het
Aatk A T 11: 120,046,863 probably benign Het
Abca15 T C 7: 120,365,910 probably benign Het
App T C 16: 85,082,831 Q138R probably benign Het
Asah2 T A 19: 32,009,414 I529F probably benign Het
Atp8b3 A G 10: 80,520,294 S1195P probably benign Het
Brca1 A G 11: 101,524,323 M134T probably benign Het
Cacna1s T C 1: 136,068,994 L111P probably damaging Het
Capns2 A T 8: 92,901,587 N35Y probably benign Het
Ccne1 A G 7: 38,098,990 probably null Het
Csf1r G T 18: 61,124,468 probably benign Het
Dlg3 A T X: 100,773,401 Y326F possibly damaging Het
Dnah8 T C 17: 30,794,796 V3837A probably damaging Het
Dock10 A G 1: 80,584,994 probably null Het
Emg1 A G 6: 124,704,657 V208A probably benign Het
Eml6 T A 11: 29,777,282 D1280V probably damaging Het
Ep400 T C 5: 110,720,825 D911G unknown Het
Fam171a1 T C 2: 3,223,586 probably null Het
Fcgbp T C 7: 28,106,970 V2121A possibly damaging Het
Fggy G A 4: 95,623,477 probably benign Het
Fignl1 G T 11: 11,802,845 T70K possibly damaging Het
Fndc3b T C 3: 27,620,652 E47G probably damaging Het
Frmd4a A G 2: 4,534,574 K189E possibly damaging Het
Hpse T A 5: 100,691,333 Y383F probably damaging Het
Ip6k2 T C 9: 108,804,599 L197P probably damaging Het
Klf1 A C 8: 84,904,932 H375P probably damaging Het
Krtap6-5 T A 16: 89,047,846 probably benign Het
Lacc1 A T 14: 77,029,615 S403T probably damaging Het
Lama3 A G 18: 12,556,750 I2850V possibly damaging Het
Lats2 C T 14: 57,691,595 R941Q probably damaging Het
Lgals3bp A T 11: 118,393,464 Y430N probably benign Het
Lrig3 A T 10: 126,014,874 H1103L probably benign Het
Lrrc40 G A 3: 158,036,728 M1I probably null Het
Maats1 G T 16: 38,332,819 probably benign Het
Magee2 A T X: 104,856,793 V84D possibly damaging Het
Msantd2 G A 9: 37,523,306 V281I possibly damaging Het
Mycbpap A G 11: 94,503,250 V340A probably damaging Het
Myh6 A T 14: 54,944,318 M1842K probably benign Het
Nfkbid C T 7: 30,425,264 Q160* probably null Het
Olfr1133 T A 2: 87,645,286 Y279F probably damaging Het
Olfr1389 A T 11: 49,431,032 K185N probably damaging Het
Olfr1497 T G 19: 13,795,329 Q94P possibly damaging Het
Olfr251 A T 9: 38,378,246 T122S probably damaging Het
Olfr745 T A 14: 50,642,518 probably null Het
Olfr859 C T 9: 19,809,047 S243F probably damaging Het
Pdgfrb A C 18: 61,080,332 Q916P probably damaging Het
Pex14 T C 4: 148,966,286 Q174R probably benign Het
Pogz T C 3: 94,879,010 S970P probably damaging Het
Rabggta A G 14: 55,718,495 V165A possibly damaging Het
Rdh10 G A 1: 16,106,214 W66* probably null Het
Ripor2 T A 13: 24,695,566 probably benign Het
Slc35g1 T A 19: 38,403,230 M320K possibly damaging Het
Slc9a7 A G X: 20,202,724 Y197H probably damaging Het
Smn1 T C 13: 100,135,684 probably benign Het
Spam1 G A 6: 24,796,697 G216S probably damaging Het
Spata31 A T 13: 64,920,380 N114I probably damaging Het
Sptbn1 A T 11: 30,119,491 V1615D possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Thoc2 T A X: 41,825,478 Q1005H possibly damaging Het
Thra G A 11: 98,761,916 R189Q probably damaging Het
Trappc11 A T 8: 47,530,650 probably null Het
Vps13d G T 4: 145,156,364 H886Q probably damaging Het
Zfp157 G A 5: 138,447,597 W71* probably null Het
Other mutations in Mylk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Mylk4 APN 13 32715922 missense probably damaging 1.00
IGL01799:Mylk4 APN 13 32781691 missense probably benign 0.00
IGL01985:Mylk4 APN 13 32717581 missense possibly damaging 0.81
IGL02105:Mylk4 APN 13 32720562 missense probably benign 0.17
IGL02270:Mylk4 APN 13 32729066 splice site probably benign
IGL03142:Mylk4 APN 13 32720599 missense probably damaging 1.00
R0550:Mylk4 UTSW 13 32716666 missense probably benign 0.00
R0599:Mylk4 UTSW 13 32712754 unclassified probably null
R1070:Mylk4 UTSW 13 32724818 missense probably benign 0.05
R1520:Mylk4 UTSW 13 32712838 unclassified probably null
R1658:Mylk4 UTSW 13 32712789 missense possibly damaging 0.77
R1917:Mylk4 UTSW 13 32724853 missense probably benign 0.00
R1918:Mylk4 UTSW 13 32724853 missense probably benign 0.00
R1919:Mylk4 UTSW 13 32724853 missense probably benign 0.00
R2187:Mylk4 UTSW 13 32722013 missense probably damaging 0.97
R2568:Mylk4 UTSW 13 32722018 missense probably null 0.97
R4832:Mylk4 UTSW 13 32721977 missense probably benign 0.04
R5268:Mylk4 UTSW 13 32708881 unclassified probably null
R6801:Mylk4 UTSW 13 32728410 missense probably benign 0.07
R6894:Mylk4 UTSW 13 32722015 missense probably damaging 1.00
R7302:Mylk4 UTSW 13 32720565 missense probably benign 0.39
R7329:Mylk4 UTSW 13 32716783 missense probably damaging 1.00
R7634:Mylk4 UTSW 13 32708908 missense possibly damaging 0.88
R7702:Mylk4 UTSW 13 32720602 critical splice acceptor site probably null
Posted On2015-04-16