Incidental Mutation 'R6756:Myl10'
ID 531056
Institutional Source Beutler Lab
Gene Symbol Myl10
Ensembl Gene ENSMUSG00000005474
Gene Name myosin, light chain 10, regulatory
Synonyms PLRLC-B, PLRLC-A, PLRLC-C, PLRLC, 1700027I08Rik, Mylc2pl
MMRRC Submission 044872-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6756 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 136722000-136729948 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 136726825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 70 (V70L)
Ref Sequence ENSEMBL: ENSMUSP00000143165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005611] [ENSMUST00000196068] [ENSMUST00000196436] [ENSMUST00000197186]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005611
AA Change: V86L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000005611
Gene: ENSMUSG00000005474
AA Change: V86L

DomainStartEndE-ValueType
EFh 9 37 1.5e-5 SMART
EFh 79 107 3.16e1 SMART
Blast:EFh 115 143 6e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000196068
AA Change: K115N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142570
Gene: ENSMUSG00000005474
AA Change: K115N

DomainStartEndE-ValueType
Pfam:EF-hand_1 9 37 9.4e-7 PFAM
Pfam:EF-hand_6 9 40 9.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196436
AA Change: V70L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142495
Gene: ENSMUSG00000005474
AA Change: V70L

DomainStartEndE-ValueType
Pfam:EF-hand_6 1 24 5.4e-3 PFAM
Pfam:EF-hand_8 5 39 1.3e-3 PFAM
Blast:EFh 63 91 1e-11 BLAST
Blast:EFh 99 127 4e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000197186
AA Change: V70L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000143165
Gene: ENSMUSG00000005474
AA Change: V70L

DomainStartEndE-ValueType
Pfam:EF-hand_6 1 24 5.4e-3 PFAM
Pfam:EF-hand_8 5 39 1.3e-3 PFAM
Blast:EFh 63 91 1e-11 BLAST
Blast:EFh 99 127 4e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199074
Meta Mutation Damage Score 0.0667 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,298,512 (GRCm39) probably null Het
Adam7 T C 14: 68,762,728 (GRCm39) T166A probably benign Het
Ahnak G A 19: 8,984,925 (GRCm39) V2070M possibly damaging Het
Atp6v1a T A 16: 43,909,421 (GRCm39) T537S probably benign Het
Atp8b3 C T 10: 80,361,895 (GRCm39) E719K possibly damaging Het
Clba1 T C 12: 112,775,820 (GRCm39) L192P probably damaging Het
Dpy19l1 T C 9: 24,385,080 (GRCm39) T250A probably damaging Het
Fra10ac1 A C 19: 38,204,313 (GRCm39) Y88D probably damaging Het
Gm21738 C T 14: 19,418,824 (GRCm38) V35I possibly damaging Het
H2-M9 G T 17: 36,953,227 (GRCm39) H27N probably damaging Het
Hivep2 T C 10: 14,008,303 (GRCm39) C1634R probably damaging Het
Meiob A T 17: 25,058,506 (GRCm39) T470S possibly damaging Het
Ms4a7 T C 19: 11,301,889 (GRCm39) H35R possibly damaging Het
Nf1 T A 11: 79,335,413 (GRCm39) probably null Het
Npc1l1 T C 11: 6,165,153 (GRCm39) Y1053C probably damaging Het
Or4p21 T C 2: 88,277,078 (GRCm39) D68G possibly damaging Het
Or51a25 T C 7: 102,373,295 (GRCm39) N134S probably benign Het
Pcdh10 T C 3: 45,334,541 (GRCm39) V285A possibly damaging Het
Phldb2 A T 16: 45,628,683 (GRCm39) C550S probably benign Het
Phldb3 T C 7: 24,326,756 (GRCm39) Y595H probably damaging Het
Plekha8 C T 6: 54,601,125 (GRCm39) Q288* probably null Het
Ppp1r36 G A 12: 76,474,696 (GRCm39) A64T probably benign Het
Ptprd T C 4: 75,873,536 (GRCm39) T1320A probably damaging Het
R3hdm1 GAA GAAA 1: 128,090,548 (GRCm39) probably null Het
Recql4 T C 15: 76,589,059 (GRCm39) D943G probably benign Het
Slc24a2 A G 4: 87,094,529 (GRCm39) I330T probably benign Het
Srcin1 T C 11: 97,425,836 (GRCm39) D433G probably damaging Het
Upb1 A G 10: 75,264,135 (GRCm39) T194A possibly damaging Het
Other mutations in Myl10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03206:Myl10 APN 5 136,726,796 (GRCm39) nonsense probably null
G1Funyon:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
PIT4243001:Myl10 UTSW 5 136,723,147 (GRCm39) missense probably benign 0.05
R4066:Myl10 UTSW 5 136,724,304 (GRCm39) missense probably damaging 1.00
R5712:Myl10 UTSW 5 136,723,092 (GRCm39) missense probably damaging 1.00
R6321:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R6322:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R6566:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R6757:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R6894:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R7033:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R7152:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R7242:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R7411:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R7484:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R7535:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R7537:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R7630:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R7631:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R7635:Myl10 UTSW 5 136,729,718 (GRCm39) missense probably benign 0.00
R7764:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R7829:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R7969:Myl10 UTSW 5 136,729,707 (GRCm39) critical splice acceptor site probably null
R8065:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8066:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8067:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8202:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8203:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8204:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8206:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8217:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8248:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8300:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8301:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8343:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8731:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8732:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R8831:Myl10 UTSW 5 136,726,825 (GRCm39) missense probably benign 0.00
R9324:Myl10 UTSW 5 136,729,787 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATGCAGCTGGAGTAGTTCC -3'
(R):5'- TATACCAGGAGGAACGGCTG -3'

Sequencing Primer
(F):5'- CTGCCTAGAATCTTCCAGTGAGG -3'
(R):5'- CAGGAGGAACGGCTGGTTTG -3'
Posted On 2018-08-01