Incidental Mutation 'IGL03391:Mylpf'
ID421048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mylpf
Ensembl Gene ENSMUSG00000030672
Gene Namemyosin light chain, phosphorylatable, fast skeletal muscle
Synonyms2410014J02Rik, MLC-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03391
Quality Score
Status
Chromosome7
Chromosomal Location127208890-127214298 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127213177 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 17 (I17V)
Ref Sequence ENSEMBL: ENSMUSP00000120915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032910] [ENSMUST00000106313] [ENSMUST00000106314] [ENSMUST00000120705] [ENSMUST00000127710] [ENSMUST00000133913] [ENSMUST00000142356] [ENSMUST00000152267] [ENSMUST00000206204] [ENSMUST00000206772]
Predicted Effect probably benign
Transcript: ENSMUST00000032910
AA Change: I37V

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032910
Gene: ENSMUSG00000030672
AA Change: I37V

DomainStartEndE-ValueType
EFh 29 57 9.77e-5 SMART
EFh 99 127 4.45e1 SMART
Blast:EFh 135 163 2e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106313
SMART Domains Protein: ENSMUSP00000101920
Gene: ENSMUSG00000000486

DomainStartEndE-ValueType
Pfam:DUF258 1 74 4.2e-8 PFAM
Pfam:MMR_HSR1 1 200 5.7e-8 PFAM
Pfam:Septin 1 274 5.7e-120 PFAM
coiled coil region 297 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106314
SMART Domains Protein: ENSMUSP00000101921
Gene: ENSMUSG00000000486

DomainStartEndE-ValueType
Pfam:Septin 22 302 3.9e-124 PFAM
Pfam:MMR_HSR1 27 171 6.2e-9 PFAM
low complexity region 349 363 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120705
SMART Domains Protein: ENSMUSP00000113307
Gene: ENSMUSG00000042492

DomainStartEndE-ValueType
low complexity region 10 33 N/A INTRINSIC
low complexity region 66 81 N/A INTRINSIC
low complexity region 129 143 N/A INTRINSIC
low complexity region 145 161 N/A INTRINSIC
low complexity region 207 227 N/A INTRINSIC
Blast:TBC 274 305 6e-10 BLAST
TBC 343 557 8.23e-57 SMART
low complexity region 632 678 N/A INTRINSIC
coiled coil region 701 769 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127710
AA Change: I17V

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120915
Gene: ENSMUSG00000030672
AA Change: I17V

DomainStartEndE-ValueType
Pfam:EF-hand_8 7 34 9.7e-3 PFAM
Pfam:EF-hand_1 9 37 1.6e-6 PFAM
Pfam:EF-hand_6 9 38 1.6e-6 PFAM
Pfam:EF-hand_8 21 54 5.1e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133733
Predicted Effect probably benign
Transcript: ENSMUST00000133913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138541
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139613
Predicted Effect probably benign
Transcript: ENSMUST00000142356
SMART Domains Protein: ENSMUSP00000114468
Gene: ENSMUSG00000000486

DomainStartEndE-ValueType
Pfam:DUF258 1 74 1.4e-8 PFAM
Pfam:MMR_HSR1 1 172 1.4e-8 PFAM
Pfam:Septin 1 186 3.1e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143222
Predicted Effect probably benign
Transcript: ENSMUST00000152267
Predicted Effect probably benign
Transcript: ENSMUST00000206204
AA Change: I37V

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000206772
AA Change: I17V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a disruption in this gene die immediately after birth and completely lack skeletal muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,884 D586G probably damaging Het
Acadvl A C 11: 70,010,716 M557R probably damaging Het
Ano2 T A 6: 125,807,839 N327K probably damaging Het
Cdh11 A T 8: 102,674,023 D104E possibly damaging Het
Chrnb2 A G 3: 89,760,877 F377S probably damaging Het
Cngb1 T C 8: 95,303,705 probably benign Het
Dnaaf1 C T 8: 119,582,616 R148C probably damaging Het
Esrrg A T 1: 188,150,223 I226F possibly damaging Het
Evl C A 12: 108,676,099 probably null Het
Gpam T C 19: 55,081,696 E376G probably damaging Het
Gzf1 C A 2: 148,683,683 R25S probably damaging Het
Ighv5-2 A T 12: 113,578,518 Y113* probably null Het
Izumo4 A G 10: 80,705,113 T216A probably damaging Het
Lrp1b T G 2: 41,295,641 Y1354S possibly damaging Het
Mark1 A G 1: 184,919,435 probably benign Het
Myo18b C A 5: 112,874,479 probably benign Het
Nbas C T 12: 13,483,749 A1795V probably benign Het
Olfr1134 A G 2: 87,656,688 S78P possibly damaging Het
Olfr1484 A G 19: 13,586,119 M272V probably benign Het
Olfr697 A T 7: 106,741,755 Y60N probably damaging Het
Oprm1 A C 10: 7,014,077 probably benign Het
Parp14 T C 16: 35,858,270 M443V probably benign Het
Psca T C 15: 74,714,868 F5S probably benign Het
Ptbp2 A T 3: 119,720,382 Y514* probably null Het
Scg3 A G 9: 75,661,251 probably null Het
Scn2a T C 2: 65,764,213 V1802A probably damaging Het
Serpinb3a A G 1: 107,046,342 S280P possibly damaging Het
Slc39a14 T C 14: 70,309,842 I352V probably damaging Het
Slc6a2 G T 8: 92,961,452 V69L probably damaging Het
Slc8a1 A G 17: 81,432,638 probably benign Het
Tjp1 T C 7: 65,314,969 D818G probably damaging Het
Tnfaip8 T C 18: 50,090,485 V120A probably damaging Het
Trmt5 G A 12: 73,281,452 H326Y probably benign Het
Vmn1r222 T C 13: 23,232,462 M194V possibly damaging Het
Zbtb17 A G 4: 141,466,758 E699G probably damaging Het
Other mutations in Mylpf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02306:Mylpf APN 7 127213158 splice site probably benign
IGL02559:Mylpf APN 7 127214143 missense probably damaging 1.00
IGL02931:Mylpf APN 7 127213626 missense probably benign 0.01
R1674:Mylpf UTSW 7 127214137 missense probably damaging 1.00
R7058:Mylpf UTSW 7 127213967 missense probably damaging 1.00
Posted On2016-08-02