Incidental Mutation 'IGL02957:Myl7'
ID 365158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myl7
Ensembl Gene ENSMUSG00000020469
Gene Name myosin, light polypeptide 7, regulatory
Synonyms MLC2a, RLC-A, Mylc2a, MLC-2alpha
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02957
Quality Score
Status
Chromosome 11
Chromosomal Location 5846637-5848782 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5847137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 139 (S139P)
Ref Sequence ENSEMBL: ENSMUSP00000099985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102920] [ENSMUST00000102921] [ENSMUST00000109822] [ENSMUST00000109823]
AlphaFold Q9QVP4
Predicted Effect probably benign
Transcript: ENSMUST00000102920
SMART Domains Protein: ENSMUSP00000099984
Gene: ENSMUSG00000041798

DomainStartEndE-ValueType
Pfam:Hexokinase_1 10 217 4.3e-80 PFAM
Pfam:Hexokinase_2 219 458 1.3e-100 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102921
AA Change: S139P

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099985
Gene: ENSMUSG00000020469
AA Change: S139P

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
EFh 36 64 1.02e-2 SMART
EFh 106 134 8.25e-3 SMART
Blast:EFh 142 170 9e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109822
SMART Domains Protein: ENSMUSP00000105447
Gene: ENSMUSG00000041798

DomainStartEndE-ValueType
Pfam:Hexokinase_1 10 217 1e-79 PFAM
Pfam:Hexokinase_2 219 458 7.8e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109823
SMART Domains Protein: ENSMUSP00000105448
Gene: ENSMUSG00000041798

DomainStartEndE-ValueType
Pfam:Hexokinase_1 15 216 1.9e-74 PFAM
Pfam:Hexokinase_2 221 455 2.2e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125434
SMART Domains Protein: ENSMUSP00000123016
Gene: ENSMUSG00000041798

DomainStartEndE-ValueType
low complexity region 8 28 N/A INTRINSIC
Pfam:Hexokinase_2 45 87 1.1e-8 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Embryos homozygous for a knock-in allele show lack of atrial myofibrillar organization, atrial malfunction, aberrant cardiac chamber and looping morphogenesis, defects in yolk sac and intraembryonic vasculature, growth arrest, pericardial edema, and death at E10.5-E11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,509,945 (GRCm39) D262G probably damaging Het
Abtb3 T A 10: 85,469,701 (GRCm39) M405K probably damaging Het
Abtb3 C T 10: 85,467,150 (GRCm39) probably benign Het
Ahcyl1 G T 3: 107,574,958 (GRCm39) Q462K probably damaging Het
C8b A G 4: 104,623,652 (GRCm39) T20A probably benign Het
Casd1 T A 6: 4,634,068 (GRCm39) Y594N possibly damaging Het
Crtc2 C T 3: 90,169,840 (GRCm39) P412L probably damaging Het
Cyp3a44 T A 5: 145,716,472 (GRCm39) R373* probably null Het
Dnah10 A G 5: 124,840,197 (GRCm39) D1277G probably benign Het
Dnah2 A T 11: 69,339,333 (GRCm39) V3058E possibly damaging Het
Eif3l T C 15: 78,974,028 (GRCm39) L481P probably benign Het
Fbxw7 A T 3: 84,883,544 (GRCm39) T573S probably benign Het
Fcgbp C A 7: 27,791,272 (GRCm39) Y844* probably null Het
Fcrl2 C A 3: 87,169,501 (GRCm39) V13F possibly damaging Het
Gbx2 T G 1: 89,858,375 (GRCm39) S35R probably benign Het
H2-M9 A G 17: 36,953,049 (GRCm39) L86S probably benign Het
Hebp1 C T 6: 135,114,990 (GRCm39) G157D probably benign Het
Igf2bp3 C A 6: 49,064,338 (GRCm39) V560L probably benign Het
Igsf10 A G 3: 59,238,285 (GRCm39) I632T probably damaging Het
Kcnab2 A T 4: 152,520,326 (GRCm39) S5T possibly damaging Het
Kcnh5 T C 12: 75,054,439 (GRCm39) S502G probably benign Het
Lpcat2 T A 8: 93,602,212 (GRCm39) Y224* probably null Het
Mcrip2 A G 17: 26,087,499 (GRCm39) V24A probably damaging Het
Mttp T C 3: 137,814,842 (GRCm39) K493E possibly damaging Het
Npepps C T 11: 97,133,478 (GRCm39) R268H probably damaging Het
Oas1c C T 5: 120,943,478 (GRCm39) W18* probably null Het
Or10ak7 G T 4: 118,791,316 (GRCm39) T241N probably damaging Het
P4ha3 T C 7: 99,968,112 (GRCm39) probably benign Het
Pate14 G T 9: 36,549,146 (GRCm39) T38K probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pkhd1l1 T A 15: 44,376,304 (GRCm39) W989R probably damaging Het
Podxl A G 6: 31,505,384 (GRCm39) probably benign Het
Pot1b T C 17: 56,007,009 (GRCm39) Y36C probably damaging Het
Ppme1 A T 7: 99,987,647 (GRCm39) I103K possibly damaging Het
Ppp1r12a T C 10: 108,034,779 (GRCm39) I108T probably damaging Het
Pramel1 A G 4: 143,124,168 (GRCm39) H281R probably benign Het
Prep T C 10: 45,002,126 (GRCm39) V427A probably benign Het
Prkce A G 17: 86,803,454 (GRCm39) D451G possibly damaging Het
Prrc2c A G 1: 162,534,104 (GRCm39) probably benign Het
Ramacl A T 13: 67,056,277 (GRCm39) probably benign Het
Rrm2 A G 12: 24,758,440 (GRCm39) N32S probably damaging Het
Sema6a A G 18: 47,382,291 (GRCm39) L752P probably damaging Het
Sik3 T A 9: 46,107,143 (GRCm39) I429N possibly damaging Het
Slc22a29 A G 19: 8,147,354 (GRCm39) L336P probably benign Het
Stk32a A T 18: 43,445,057 (GRCm39) M284L probably benign Het
Syde2 T C 3: 145,694,934 (GRCm39) probably benign Het
Tcta G A 9: 108,182,531 (GRCm39) S91F possibly damaging Het
Traf3ip2 A T 10: 39,530,406 (GRCm39) T517S probably damaging Het
Trpv3 A G 11: 73,176,698 (GRCm39) Y359C probably damaging Het
Vmn1r66 A G 7: 10,008,737 (GRCm39) S99P probably damaging Het
Vmn2r8 G A 5: 108,950,091 (GRCm39) T252M probably benign Het
Wdr27 A T 17: 15,130,372 (GRCm39) probably benign Het
Yipf1 A G 4: 107,193,347 (GRCm39) T78A probably damaging Het
Zfp735 A T 11: 73,601,755 (GRCm39) Y233F probably benign Het
Other mutations in Myl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03199:Myl7 APN 11 5,848,205 (GRCm39) missense probably damaging 1.00
R2370:Myl7 UTSW 11 5,846,684 (GRCm39) missense probably damaging 0.96
R3902:Myl7 UTSW 11 5,848,431 (GRCm39) missense probably damaging 0.99
R3902:Myl7 UTSW 11 5,848,430 (GRCm39) missense probably damaging 1.00
R4449:Myl7 UTSW 11 5,847,354 (GRCm39) missense probably damaging 1.00
R4766:Myl7 UTSW 11 5,848,171 (GRCm39) missense probably benign 0.00
R5293:Myl7 UTSW 11 5,848,521 (GRCm39) unclassified probably benign
R7666:Myl7 UTSW 11 5,847,140 (GRCm39) missense possibly damaging 0.76
R7862:Myl7 UTSW 11 5,847,157 (GRCm39) missense probably benign 0.01
Posted On 2015-12-18