Incidental Mutation 'R5293:Myl7'
ID 405256
Institutional Source Beutler Lab
Gene Symbol Myl7
Ensembl Gene ENSMUSG00000020469
Gene Name myosin, light polypeptide 7, regulatory
Synonyms MLC2a, RLC-A, Mylc2a, MLC-2alpha
MMRRC Submission 042876-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5293 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 5846637-5848782 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 5848521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 unknown
Transcript: ENSMUST00000102921
AA Change: T8S
SMART Domains Protein: ENSMUSP00000099985
Gene: ENSMUSG00000020469
AA Change: T8S

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A G 8: 25,300,722 (GRCm39) V269A possibly damaging Het
Akap9 C T 5: 3,998,687 (GRCm39) R19W probably damaging Het
Akr7a5 G T 4: 139,041,517 (GRCm39) R142L probably benign Het
Atp6v0a2 A T 5: 124,784,649 (GRCm39) M311L probably benign Het
Atxn1 C T 13: 45,721,844 (GRCm39) R17H probably damaging Het
Ccdc116 A T 16: 16,959,651 (GRCm39) L346Q possibly damaging Het
Copg2 T A 6: 30,803,162 (GRCm39) N261I probably damaging Het
Crtc2 A G 3: 90,170,871 (GRCm39) E648G probably benign Het
Dnah10 A C 5: 124,868,851 (GRCm39) K2334Q probably benign Het
Foxa2 T C 2: 147,885,922 (GRCm39) T123A probably benign Het
Galnt6 A G 15: 100,601,382 (GRCm39) V299A probably benign Het
Grip1 T C 10: 119,733,640 (GRCm39) S26P probably damaging Het
Jkamp A G 12: 72,136,883 (GRCm39) S84G probably benign Het
Kcnc1 A G 7: 46,047,235 (GRCm39) H45R probably benign Het
Knl1 T C 2: 118,900,176 (GRCm39) Y626H probably damaging Het
Mmp19 T A 10: 128,626,970 (GRCm39) V16D probably damaging Het
Mrpl38 T C 11: 116,023,599 (GRCm39) N280S probably benign Het
Ngef CCCTCCTCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTCCTCCTC 1: 87,431,151 (GRCm39) probably benign Het
Nlrp2 A C 7: 5,330,614 (GRCm39) L594R probably damaging Het
Or2y3 T A 17: 38,393,131 (GRCm39) H246L probably damaging Het
Or4f15 T G 2: 111,813,611 (GRCm39) K269N probably damaging Het
Or52n2c T C 7: 104,574,486 (GRCm39) T162A probably benign Het
Pkhd1 T C 1: 20,579,300 (GRCm39) E1802G possibly damaging Het
Pkhd1l1 T C 15: 44,399,146 (GRCm39) V2070A probably benign Het
Plcxd2 G T 16: 45,800,706 (GRCm39) H173N probably damaging Het
Plec C G 15: 76,083,783 (GRCm39) W26C probably benign Het
Psmc1 C T 12: 100,081,731 (GRCm39) T111I probably benign Het
Rbfa T C 18: 80,235,981 (GRCm39) E256G probably benign Het
Sh3d21 T A 4: 126,046,050 (GRCm39) T173S probably benign Het
Slc41a3 T A 6: 90,603,426 (GRCm39) V149E probably damaging Het
Sntg1 A G 1: 8,665,757 (GRCm39) S186P probably damaging Het
Spag4 A G 2: 155,908,111 (GRCm39) D29G probably benign Het
Spc25 A G 2: 69,032,996 (GRCm39) V43A possibly damaging Het
Spen G A 4: 141,199,717 (GRCm39) A2947V possibly damaging Het
Spta1 T C 1: 174,023,551 (GRCm39) S653P probably damaging Het
Ssrp1 T A 2: 84,872,596 (GRCm39) Y411* probably null Het
Synrg C T 11: 83,872,325 (GRCm39) L149F probably damaging Het
Trappc11 G A 8: 47,946,377 (GRCm39) A1085V possibly damaging Het
Ttn T C 2: 76,571,276 (GRCm39) E18212G probably damaging Het
Wnk4 T G 11: 101,166,023 (GRCm39) probably benign Het
Other mutations in Myl7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02957:Myl7 APN 11 5,847,137 (GRCm39) missense possibly damaging 0.84
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
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
Predicted Primers PCR Primer
(F):5'- TCTCGGGTAGTATGAGCGAG -3'
(R):5'- ACAGATCATGGTGAGTGCTG -3'

Sequencing Primer
(F):5'- TAGTATGAGCGAGGTTGGAGGC -3'
(R):5'- ACCCAGGTGCTAGTCTCTGAG -3'
Posted On 2016-07-22