Incidental Mutation 'IGL01835:Myl4'
ID154916
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myl4
Ensembl Gene ENSMUSG00000061086
Gene Namemyosin, light polypeptide 4
SynonymsELC, MLC1a, ELC1a, Myla
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.313) question?
Stock #IGL01835
Quality Score
Status
Chromosome11
Chromosomal Location104550663-104595753 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to A at 104577453 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000114345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018800] [ENSMUST00000106956] [ENSMUST00000106957] [ENSMUST00000130588] [ENSMUST00000153761]
Predicted Effect probably null
Transcript: ENSMUST00000018800
AA Change: M1K
SMART Domains Protein: ENSMUSP00000018800
Gene: ENSMUSG00000061086
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
Pfam:EF-hand_6 51 82 7.8e-5 PFAM
internal_repeat_1 129 187 1.4e-5 PROSPERO
Predicted Effect probably null
Transcript: ENSMUST00000106956
AA Change: M1K
SMART Domains Protein: ENSMUSP00000102569
Gene: ENSMUSG00000061086
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
Pfam:EF-hand_6 51 82 7.8e-5 PFAM
internal_repeat_1 129 187 1.4e-5 PROSPERO
Predicted Effect probably null
Transcript: ENSMUST00000106957
AA Change: M1K
SMART Domains Protein: ENSMUSP00000102570
Gene: ENSMUSG00000061086
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
internal_repeat_1 50 113 1.4e-5 PROSPERO
internal_repeat_1 129 187 1.4e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123074
Predicted Effect probably null
Transcript: ENSMUST00000130588
AA Change: M1K
SMART Domains Protein: ENSMUSP00000122748
Gene: ENSMUSG00000061086
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000153761
AA Change: M1K
SMART Domains Protein: ENSMUSP00000114345
Gene: ENSMUSG00000061086
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
Pfam:EF-hand_6 51 82 1.3e-4 PFAM
internal_repeat_1 129 187 1.33e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155271
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,167,181 Y727* probably null Het
2700049A03Rik T A 12: 71,167,183 M728K probably benign Het
Adam23 T C 1: 63,543,119 Y309H probably damaging Het
Ash2l C T 8: 25,839,840 V97M probably damaging Het
Cyp4f13 A G 17: 32,930,614 F83L probably benign Het
Dnah6 A T 6: 73,135,801 S1607T probably damaging Het
Dock2 T A 11: 34,310,435 M969L possibly damaging Het
Dse T A 10: 34,160,217 probably benign Het
Dusp22 C T 13: 30,708,683 probably null Het
F5 G A 1: 164,194,368 V1471I probably benign Het
Gm14403 A T 2: 177,507,256 E48D probably damaging Het
Gm6309 G A 5: 146,168,275 A276V probably damaging Het
Icam4 A T 9: 21,029,790 T113S probably damaging Het
Ipo5 T C 14: 120,926,238 V236A probably benign Het
Mrc2 T G 11: 105,336,677 F579V probably damaging Het
Oas3 A T 5: 120,766,128 C560* probably null Het
Olfr225 T C 11: 59,613,339 V125A probably damaging Het
Olfr670 T C 7: 104,960,462 N90S probably benign Het
Prlr G A 15: 10,329,043 V535I probably damaging Het
Ptprd T C 4: 76,246,821 T48A probably benign Het
Rasa4 A G 5: 136,102,607 H485R possibly damaging Het
Rnf13 A T 3: 57,820,586 H229L probably damaging Het
Rpap3 T C 15: 97,703,239 D39G possibly damaging Het
Sec23ip T A 7: 128,755,311 probably null Het
Sirpa T A 2: 129,615,564 F186Y possibly damaging Het
Slc26a11 T C 11: 119,377,214 Y473H probably benign Het
Slc36a2 T C 11: 55,162,733 I360V probably benign Het
Spg11 G A 2: 122,088,224 R975C probably benign Het
Sppl2b T A 10: 80,865,341 I350N probably damaging Het
Tas2r139 A T 6: 42,141,432 N166I probably benign Het
Trav14n-3 A G 14: 53,370,329 T39A possibly damaging Het
Vmn2r61 A G 7: 42,300,591 M812V probably benign Het
Vmn2r87 A C 10: 130,479,109 F203V probably damaging Het
Vwde A C 6: 13,186,824 V888G probably benign Het
Zbtb17 T C 4: 141,465,438 probably null Het
Other mutations in Myl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:Myl4 APN 11 104580402 missense probably benign 0.00
R5820:Myl4 UTSW 11 104583980 missense probably damaging 1.00
R7804:Myl4 UTSW 11 104584961 missense probably damaging 1.00
Posted On2014-02-04