Incidental Mutation 'R6321:Myl10'
ID 510340
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 044418-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6321 (G1)
Quality Score 225.009
Status 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 G T 13: 111,391,915 (GRCm39) M83I probably damaging Het
Adgra2 T A 8: 27,604,190 (GRCm39) M460K probably benign Het
Aldh16a1 G A 7: 44,799,189 (GRCm39) A31V probably damaging Het
Ank2 T C 3: 126,740,587 (GRCm39) probably benign Het
Arrdc4 C A 7: 68,398,793 (GRCm39) D8Y probably benign Het
Auts2 A G 5: 131,494,953 (GRCm39) Y110H probably damaging Het
Blnk A T 19: 40,922,903 (GRCm39) Y405N probably damaging Het
Capsl T C 15: 9,461,855 (GRCm39) F84L probably damaging Het
Cdcp3 T C 7: 130,858,735 (GRCm39) probably null Het
Cenpl T C 1: 160,902,465 (GRCm39) S46P probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Chrnd C T 1: 87,119,951 (GRCm39) R90C probably damaging Het
Cyfip2 A T 11: 46,182,347 (GRCm39) M37K probably benign Het
Dnah11 T C 12: 118,106,027 (GRCm39) E625G possibly damaging Het
Dnah5 T G 15: 28,372,557 (GRCm39) V2936G probably damaging Het
Dock9 A G 14: 121,783,433 (GRCm39) M2055T probably damaging Het
Epb41l2 A T 10: 25,344,026 (GRCm39) R274S probably damaging Het
Erich3 A T 3: 154,433,139 (GRCm39) H371L probably damaging Het
Evi5l C A 8: 4,253,080 (GRCm39) P454T probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Golgb1 T A 16: 36,738,559 (GRCm39) C2299* probably null Het
Heca G C 10: 17,790,991 (GRCm39) probably null Het
Hecw1 C T 13: 14,697,414 (GRCm39) A9T probably benign Het
Hs3st6 T A 17: 24,977,542 (GRCm39) W341R probably damaging Het
Kidins220 C T 12: 25,107,533 (GRCm39) S1571L probably benign Het
Klk1b9 A G 7: 43,443,732 (GRCm39) E82G probably damaging Het
Ltbp3 C A 19: 5,795,685 (GRCm39) H180Q probably benign Het
Mecom A G 3: 30,034,741 (GRCm39) Y502H probably damaging Het
Mfsd2a A G 4: 122,843,165 (GRCm39) V372A probably benign Het
Mrgprd A G 7: 144,875,879 (GRCm39) D250G probably benign Het
Muc2 A G 7: 141,287,397 (GRCm39) D191G probably benign Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Or4f59 A G 2: 111,873,113 (GRCm39) V88A probably benign Het
Or52w1 A G 7: 105,018,109 (GRCm39) Y192C probably damaging Het
Pnpla6 T C 8: 3,594,015 (GRCm39) V1342A probably benign Het
Ppp1r9a A G 6: 5,115,151 (GRCm39) E789G probably damaging Het
Prkdc A G 16: 15,532,783 (GRCm39) T1471A probably benign Het
Scarb1 T A 5: 125,381,395 (GRCm39) S50C probably damaging Het
Slc4a8 C T 15: 100,687,045 (GRCm39) T283M probably damaging Het
Smc2 C A 4: 52,462,814 (GRCm39) D601E probably benign Het
Snx6 C A 12: 54,798,798 (GRCm39) V221F probably damaging Het
Spag17 A C 3: 99,995,743 (GRCm39) K1794T probably benign Het
Tpo A G 12: 30,153,107 (GRCm39) W416R probably damaging Het
Ttc13 C A 8: 125,409,930 (GRCm39) K427N probably damaging Het
Upf3a A T 8: 13,837,466 (GRCm39) N137I possibly damaging Het
Ush2a C T 1: 188,581,243 (GRCm39) Q3708* probably null Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zfp451 A G 1: 33,852,816 (GRCm39) F33L probably damaging Het
Zfp454 A G 11: 50,763,876 (GRCm39) F408L probably damaging Het
Zfp639 T C 3: 32,571,237 (GRCm39) Y40H probably 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
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
R6756: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 2018-04-02