Incidental Mutation 'IGL02957:Myl7'
ID365158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myl7
Ensembl Gene ENSMUSG00000020469
Gene Namemyosin, light polypeptide 7, regulatory
SynonymsRLC-A, MLC-2alpha, MLC2a, Mylc2a
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02957
Quality Score
Status
Chromosome11
Chromosomal Location5896637-5898782 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5897137 bp
ZygosityHeterozygous
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]
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
A630095E13Rik G T 9: 36,637,850 T38K probably benign Het
Abi2 A G 1: 60,470,786 D262G probably damaging Het
Ahcyl1 G T 3: 107,667,642 Q462K probably damaging Het
Btbd11 C T 10: 85,631,286 probably benign Het
Btbd11 T A 10: 85,633,837 M405K probably damaging Het
C8b A G 4: 104,766,455 T20A probably benign Het
Casd1 T A 6: 4,634,068 Y594N possibly damaging Het
Crtc2 C T 3: 90,262,533 P412L probably damaging Het
Cyp3a44 T A 5: 145,779,662 R373* probably null Het
Dnah10 A G 5: 124,763,133 D1277G probably benign Het
Dnah2 A T 11: 69,448,507 V3058E possibly damaging Het
Eif3l T C 15: 79,089,828 L481P probably benign Het
Fbxw7 A T 3: 84,976,237 T573S probably benign Het
Fcgbp C A 7: 28,091,847 Y844* probably null Het
Fcrls C A 3: 87,262,194 V13F possibly damaging Het
Gbx2 T G 1: 89,930,653 S35R probably benign Het
Gm10767 A T 13: 66,908,213 probably benign Het
H2-M9 A G 17: 36,642,157 L86S probably benign Het
Hebp1 C T 6: 135,137,992 G157D probably benign Het
Igf2bp3 C A 6: 49,087,404 V560L probably benign Het
Igsf10 A G 3: 59,330,864 I632T probably damaging Het
Kcnab2 A T 4: 152,435,869 S5T possibly damaging Het
Kcnh5 T C 12: 75,007,665 S502G probably benign Het
Lpcat2 T A 8: 92,875,584 Y224* probably null Het
Mcrip2 A G 17: 25,868,525 V24A probably damaging Het
Mttp T C 3: 138,109,081 K493E possibly damaging Het
Npepps C T 11: 97,242,652 R268H probably damaging Het
Oas1c C T 5: 120,805,413 W18* probably null Het
Olfr1328 G T 4: 118,934,119 T241N probably damaging Het
P4ha3 T C 7: 100,318,905 probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pkhd1l1 T A 15: 44,512,908 W989R probably damaging Het
Podxl A G 6: 31,528,449 probably benign Het
Pot1b T C 17: 55,700,009 Y36C probably damaging Het
Ppme1 A T 7: 100,338,440 I103K possibly damaging Het
Ppp1r12a T C 10: 108,198,918 I108T probably damaging Het
Pramel1 A G 4: 143,397,598 H281R probably benign Het
Prep T C 10: 45,126,030 V427A probably benign Het
Prkce A G 17: 86,496,026 D451G possibly damaging Het
Prrc2c A G 1: 162,706,535 probably benign Het
Rrm2 A G 12: 24,708,441 N32S probably damaging Het
Sema6a A G 18: 47,249,224 L752P probably damaging Het
Sik3 T A 9: 46,195,845 I429N possibly damaging Het
Slc22a29 A G 19: 8,169,990 L336P probably benign Het
Stk32a A T 18: 43,311,992 M284L probably benign Het
Syde2 T C 3: 145,989,179 probably benign Het
Tcta G A 9: 108,305,332 S91F possibly damaging Het
Traf3ip2 A T 10: 39,654,410 T517S probably damaging Het
Trpv3 A G 11: 73,285,872 Y359C probably damaging Het
Vmn1r66 A G 7: 10,274,810 S99P probably damaging Het
Vmn2r8 G A 5: 108,802,225 T252M probably benign Het
Wdr27 A T 17: 14,910,110 probably benign Het
Yipf1 A G 4: 107,336,150 T78A probably damaging Het
Zfp735 A T 11: 73,710,929 Y233F probably benign Het
Other mutations in Myl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03199:Myl7 APN 11 5898205 missense probably damaging 1.00
R2370:Myl7 UTSW 11 5896684 missense probably damaging 0.96
R3902:Myl7 UTSW 11 5898430 missense probably damaging 1.00
R3902:Myl7 UTSW 11 5898431 missense probably damaging 0.99
R4449:Myl7 UTSW 11 5897354 missense probably damaging 1.00
R4766:Myl7 UTSW 11 5898171 missense probably benign 0.00
R5293:Myl7 UTSW 11 5898521 unclassified probably benign
R7666:Myl7 UTSW 11 5897140 missense possibly damaging 0.76
R7862:Myl7 UTSW 11 5897157 missense probably benign 0.01
R7945:Myl7 UTSW 11 5897157 missense probably benign 0.01
Posted On2015-12-18