Incidental Mutation 'IGL02225:Myl4'
ID285295
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 #IGL02225
Quality Score
Status
Chromosome11
Chromosomal Location104550663-104595753 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 104580402 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 42 (I42V)
Ref Sequence ENSEMBL: ENSMUSP00000114345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018800] [ENSMUST00000106956] [ENSMUST00000106957] [ENSMUST00000130588] [ENSMUST00000153761]
Predicted Effect probably benign
Transcript: ENSMUST00000018800
AA Change: I42V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018800
Gene: ENSMUSG00000061086
AA Change: I42V

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 benign
Transcript: ENSMUST00000106956
AA Change: I42V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102569
Gene: ENSMUSG00000061086
AA Change: I42V

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 benign
Transcript: ENSMUST00000106957
AA Change: I42V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102570
Gene: ENSMUSG00000061086
AA Change: I42V

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 unknown
Transcript: ENSMUST00000130588
AA Change: I42V
SMART Domains Protein: ENSMUSP00000122748
Gene: ENSMUSG00000061086
AA Change: I42V

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136244
Predicted Effect probably benign
Transcript: ENSMUST00000153761
AA Change: I42V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114345
Gene: ENSMUSG00000061086
AA Change: I42V

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 A G 7: 44,256,741 probably null Het
Adgrf4 C A 17: 42,663,378 probably null Het
Aqp9 A T 9: 71,130,547 probably benign Het
C1s1 A G 6: 124,541,334 W8R probably benign Het
Cfap43 A G 19: 47,812,177 I345T probably benign Het
Cwh43 T C 5: 73,421,567 Y306H probably damaging Het
Cyp4a32 A T 4: 115,610,503 H228L probably benign Het
Ddx24 A G 12: 103,417,371 L607P probably damaging Het
Dlg3 A G X: 100,807,188 K232R probably benign Het
Fgfr1op T G 17: 8,182,419 D257E probably damaging Het
Fig4 A G 10: 41,256,452 S453P probably benign Het
Frem1 A G 4: 82,940,506 L1556P probably damaging Het
Gjb2 T C 14: 57,100,188 K188E probably damaging Het
Gp1bb C A 16: 18,620,900 W148L possibly damaging Het
Grip1 C T 10: 120,049,453 T375M probably damaging Het
Hnf1b T C 11: 83,861,785 L82P probably damaging Het
Jakmip1 T C 5: 37,104,856 V333A probably damaging Het
Magi1 G T 6: 93,694,026 R1069S probably damaging Het
Myh15 A T 16: 49,091,163 E319D probably benign Het
Obsl1 A T 1: 75,503,798 V394E probably damaging Het
Olfr1137 C T 2: 87,711,399 C169Y possibly damaging Het
Olfr376 T A 11: 73,375,078 F110I probably damaging Het
Olfr598 A T 7: 103,329,166 I227F probably damaging Het
Pcnt C T 10: 76,389,474 R1732K probably benign Het
Pkd1l3 T C 8: 109,638,678 Y1144H probably damaging Het
Pogz A G 3: 94,879,016 K972E probably damaging Het
Sccpdh A G 1: 179,679,699 T227A probably benign Het
Sec16b A G 1: 157,532,044 probably benign Het
Slain2 T A 5: 72,941,390 V163E probably damaging Het
Snx1 G A 9: 66,109,621 P56L probably benign Het
Snx14 G A 9: 88,413,524 T196I probably damaging Het
Sspo T C 6: 48,484,334 F3570L probably benign Het
Tbrg4 C A 11: 6,624,094 V43F probably damaging Het
Traf3ip3 A G 1: 193,195,100 I176T probably benign Het
Trbv20 T A 6: 41,188,307 probably benign Het
Ubc A T 5: 125,386,133 V710D probably benign Het
Ugt2b35 T C 5: 87,007,405 probably benign Het
Zbed5 C T 5: 129,902,133 probably null Het
Zc3hav1 T C 6: 38,340,341 Y108C probably damaging Het
Other mutations in Myl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01835:Myl4 APN 11 104577453 start codon destroyed probably null
R5820:Myl4 UTSW 11 104583980 missense probably damaging 1.00
R7804:Myl4 UTSW 11 104584961 missense probably damaging 1.00
Posted On2015-04-16