Incidental Mutation 'R6700:Myo1c'
ID 528228
Institutional Source Beutler Lab
Gene Symbol Myo1c
Ensembl Gene ENSMUSG00000017774
Gene Name myosin IC
Synonyms myr2, mm1beta, C80397, myosin-Ibeta
MMRRC Submission 044818-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.684) question?
Stock # R6700 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75541330-75564736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75562461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 918 (P918S)
Ref Sequence ENSEMBL: ENSMUSP00000104069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069057] [ENSMUST00000102504] [ENSMUST00000102505] [ENSMUST00000108431]
AlphaFold Q9WTI7
Predicted Effect probably benign
Transcript: ENSMUST00000069057
AA Change: P902S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: P902S

DomainStartEndE-ValueType
MYSc 5 697 N/A SMART
IQ 698 720 3.85e-3 SMART
IQ 721 743 2.09e-4 SMART
Blast:MYSc 751 780 5e-9 BLAST
low complexity region 804 815 N/A INTRINSIC
Pfam:Myosin_TH1 838 1024 1.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102504
AA Change: P902S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: P902S

DomainStartEndE-ValueType
MYSc 5 697 N/A SMART
IQ 698 720 3.85e-3 SMART
IQ 721 743 2.09e-4 SMART
Blast:MYSc 751 780 5e-9 BLAST
low complexity region 804 815 N/A INTRINSIC
Pfam:Myosin_TH1 838 1024 1.9e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102505
AA Change: P937S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: P937S

DomainStartEndE-ValueType
MYSc 40 732 N/A SMART
IQ 733 755 3.85e-3 SMART
IQ 756 778 2.09e-4 SMART
Blast:MYSc 786 815 6e-9 BLAST
low complexity region 839 850 N/A INTRINSIC
Pfam:Myosin_TH1 874 1052 2.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108431
AA Change: P918S

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: P918S

DomainStartEndE-ValueType
MYSc 21 713 N/A SMART
IQ 714 736 3.85e-3 SMART
IQ 737 759 2.09e-4 SMART
Blast:MYSc 767 796 5e-9 BLAST
low complexity region 820 831 N/A INTRINSIC
Pfam:Myosin_TH1 854 1040 3.3e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123064
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155027
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The protein functions in intracellular vesicle transport to the plasma membrane. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in (Y61G) mutation that sensitizes to N6-modified ADP analogs display altered fast adaption in vestibular hair cells. Mice homozygous for a nuclear isoform-specifc knock-out allele exhibit minor changes in bone marrow density and red blood cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,881,140 (GRCm39) E504G unknown Het
Aak1 G A 6: 86,941,185 (GRCm39) E660K unknown Het
Abcc9 A G 6: 142,633,013 (GRCm39) I243T possibly damaging Het
Baiap3 A G 17: 25,463,000 (GRCm39) S1013P probably damaging Het
Bdp1 A T 13: 100,162,036 (GRCm39) D2295E probably benign Het
Blm A G 7: 80,113,598 (GRCm39) V1233A possibly damaging Het
Brsk1 G T 7: 4,695,700 (GRCm39) V62F probably damaging Het
Cacna2d1 A G 5: 16,570,458 (GRCm39) E1011G probably damaging Het
Cdh18 A G 15: 23,474,191 (GRCm39) Y687C probably benign Het
Cfap221 T C 1: 119,883,421 (GRCm39) E250G possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Cps1 G T 1: 67,268,682 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,760,130 (GRCm39) V34A probably damaging Het
Dnah9 C T 11: 65,846,192 (GRCm39) V2949M probably damaging Het
Dst A C 1: 34,295,404 (GRCm39) Q3454P probably damaging Het
Filip1l T C 16: 57,391,611 (GRCm39) L495P possibly damaging Het
Flnb C A 14: 7,892,189 (GRCm38) H619Q probably damaging Het
Fst G C 13: 114,595,043 (GRCm39) A27G probably benign Het
Ggnbp2 C A 11: 84,730,931 (GRCm39) R364L probably damaging Het
Gins1 C T 2: 150,758,148 (GRCm39) A78V probably damaging Het
Gm19410 T A 8: 36,274,664 (GRCm39) L1495H possibly damaging Het
Golgb1 C T 16: 36,695,946 (GRCm39) probably benign Het
Lin7a A G 10: 107,216,167 (GRCm39) probably null Het
Lrp6 A T 6: 134,456,523 (GRCm39) C914S probably damaging Het
Lrrc8e G A 8: 4,286,034 (GRCm39) G753D probably damaging Het
Mapk4 A G 18: 74,063,882 (GRCm39) Y447H probably damaging Het
Mbl1 A G 14: 40,880,511 (GRCm39) N133S probably damaging Het
Mrps30 A T 13: 118,517,134 (GRCm39) S362T probably damaging Het
Nbea T C 3: 55,989,869 (GRCm39) N329S possibly damaging Het
Or13p10 A T 4: 118,523,609 (GRCm39) K298N probably benign Het
Or51k2 G A 7: 103,596,531 (GRCm39) V253M probably damaging Het
Or5b120 A T 19: 13,480,177 (GRCm39) I157F probably damaging Het
Or6k14 G A 1: 173,927,405 (GRCm39) C127Y probably damaging Het
Pik3c3 A G 18: 30,449,954 (GRCm39) E589G probably benign Het
Plb1 A T 5: 32,490,808 (GRCm39) D1035V probably damaging Het
Plekhg1 G T 10: 3,907,373 (GRCm39) M763I probably benign Het
Poc5 A G 13: 96,531,003 (GRCm39) N67S probably benign Het
Psmd13 T A 7: 140,470,522 (GRCm39) W255R probably damaging Het
Rbm27 A G 18: 42,459,004 (GRCm39) Y735C probably damaging Het
Rhpn2 A T 7: 35,075,594 (GRCm39) N257I possibly damaging Het
Rilpl2 C T 5: 124,607,843 (GRCm39) E126K probably damaging Het
Rp1 G A 1: 4,420,119 (GRCm39) T331M probably damaging Het
Sh3pxd2a A G 19: 47,353,146 (GRCm39) V105A possibly damaging Het
Slc9a9 T C 9: 94,818,364 (GRCm39) S253P possibly damaging Het
St8sia3 C T 18: 64,398,452 (GRCm39) probably benign Het
Strbp T C 2: 37,493,975 (GRCm39) D366G probably null Het
Tbx5 A G 5: 120,009,462 (GRCm39) T324A probably benign Het
Tex15 T A 8: 34,064,917 (GRCm39) I1449N possibly damaging Het
Tmtc3 C T 10: 100,307,339 (GRCm39) V222I probably benign Het
Top3b T C 16: 16,710,533 (GRCm39) S788P possibly damaging Het
Tsc22d4 A G 5: 137,756,785 (GRCm39) D71G probably benign Het
Tubgcp4 T A 2: 121,020,329 (GRCm39) V434E probably benign Het
Ufsp1 A G 5: 137,293,158 (GRCm39) Y36C possibly damaging Het
Unc79 T A 12: 103,091,962 (GRCm39) H1956Q possibly damaging Het
Usp34 A T 11: 23,389,011 (GRCm39) N2217I probably damaging Het
Vmn2r112 A T 17: 22,822,462 (GRCm39) D380V possibly damaging Het
Vmn2r13 A G 5: 109,322,938 (GRCm39) I117T probably benign Het
Vmn2r53 A G 7: 12,315,633 (GRCm39) Y729H probably damaging Het
Wnt3a A T 11: 59,140,587 (GRCm39) L310M probably damaging Het
Zc3h7a T C 16: 10,976,831 (GRCm39) Q155R possibly damaging Het
Other mutations in Myo1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Myo1c APN 11 75,563,076 (GRCm39) missense probably damaging 1.00
IGL02054:Myo1c APN 11 75,551,962 (GRCm39) missense probably benign 0.30
IGL02115:Myo1c APN 11 75,552,417 (GRCm39) missense probably damaging 0.99
IGL02375:Myo1c APN 11 75,552,400 (GRCm39) missense probably benign 0.00
IGL02878:Myo1c APN 11 75,559,859 (GRCm39) missense possibly damaging 0.93
IGL03008:Myo1c APN 11 75,549,240 (GRCm39) missense probably benign 0.13
Sweeper UTSW 11 75,560,856 (GRCm39) nonsense probably null
R0070:Myo1c UTSW 11 75,551,076 (GRCm39) missense probably benign 0.39
R0070:Myo1c UTSW 11 75,551,076 (GRCm39) missense probably benign 0.39
R0138:Myo1c UTSW 11 75,551,827 (GRCm39) missense possibly damaging 0.92
R0200:Myo1c UTSW 11 75,563,008 (GRCm39) missense probably benign 0.00
R0227:Myo1c UTSW 11 75,549,520 (GRCm39) missense probably benign 0.34
R0257:Myo1c UTSW 11 75,556,342 (GRCm39) critical splice acceptor site probably null
R0513:Myo1c UTSW 11 75,556,657 (GRCm39) splice site probably null
R0587:Myo1c UTSW 11 75,548,616 (GRCm39) missense probably damaging 1.00
R0667:Myo1c UTSW 11 75,559,338 (GRCm39) missense probably damaging 1.00
R1469:Myo1c UTSW 11 75,560,787 (GRCm39) missense probably damaging 1.00
R1469:Myo1c UTSW 11 75,560,787 (GRCm39) missense probably damaging 1.00
R1793:Myo1c UTSW 11 75,548,415 (GRCm39) missense probably damaging 0.98
R1922:Myo1c UTSW 11 75,559,055 (GRCm39) missense probably benign
R2000:Myo1c UTSW 11 75,561,405 (GRCm39) missense probably damaging 1.00
R3983:Myo1c UTSW 11 75,552,325 (GRCm39) missense probably benign 0.05
R4583:Myo1c UTSW 11 75,562,688 (GRCm39) missense possibly damaging 0.72
R4599:Myo1c UTSW 11 75,559,019 (GRCm39) missense probably damaging 0.99
R4671:Myo1c UTSW 11 75,560,856 (GRCm39) nonsense probably null
R4682:Myo1c UTSW 11 75,560,856 (GRCm39) nonsense probably null
R4708:Myo1c UTSW 11 75,560,856 (GRCm39) nonsense probably null
R4709:Myo1c UTSW 11 75,560,856 (GRCm39) nonsense probably null
R4742:Myo1c UTSW 11 75,560,856 (GRCm39) nonsense probably null
R4770:Myo1c UTSW 11 75,551,139 (GRCm39) nonsense probably null
R4888:Myo1c UTSW 11 75,560,053 (GRCm39) missense probably damaging 1.00
R4915:Myo1c UTSW 11 75,547,135 (GRCm39) start codon destroyed probably null
R4934:Myo1c UTSW 11 75,562,676 (GRCm39) missense probably damaging 1.00
R4971:Myo1c UTSW 11 75,562,414 (GRCm39) missense probably damaging 1.00
R5319:Myo1c UTSW 11 75,552,852 (GRCm39) missense possibly damaging 0.95
R5589:Myo1c UTSW 11 75,548,414 (GRCm39) missense possibly damaging 0.74
R5624:Myo1c UTSW 11 75,553,461 (GRCm39) missense probably damaging 0.99
R5756:Myo1c UTSW 11 75,549,240 (GRCm39) missense probably benign 0.42
R5959:Myo1c UTSW 11 75,548,345 (GRCm39) missense probably benign 0.37
R6160:Myo1c UTSW 11 75,541,568 (GRCm39) missense probably benign 0.00
R6559:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6568:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6569:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6574:Myo1c UTSW 11 75,547,124 (GRCm39) start gained probably benign
R6579:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6580:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6583:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6640:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6642:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6643:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6679:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6680:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6687:Myo1c UTSW 11 75,563,027 (GRCm39) missense probably benign
R6695:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6696:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6712:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6713:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R6715:Myo1c UTSW 11 75,562,461 (GRCm39) missense probably benign 0.42
R7081:Myo1c UTSW 11 75,551,789 (GRCm39) missense probably benign
R7265:Myo1c UTSW 11 75,560,616 (GRCm39) missense possibly damaging 0.89
R7397:Myo1c UTSW 11 75,562,068 (GRCm39) missense probably benign 0.17
R7586:Myo1c UTSW 11 75,548,345 (GRCm39) missense possibly damaging 0.77
R7714:Myo1c UTSW 11 75,549,519 (GRCm39) missense probably damaging 1.00
R8260:Myo1c UTSW 11 75,546,942 (GRCm39) unclassified probably benign
R8341:Myo1c UTSW 11 75,562,253 (GRCm39) missense probably benign 0.42
R8466:Myo1c UTSW 11 75,549,213 (GRCm39) missense probably damaging 1.00
R8771:Myo1c UTSW 11 75,556,709 (GRCm39) missense probably benign
R8829:Myo1c UTSW 11 75,561,072 (GRCm39) missense probably benign 0.03
R8832:Myo1c UTSW 11 75,561,072 (GRCm39) missense probably benign 0.03
R9243:Myo1c UTSW 11 75,541,437 (GRCm39) unclassified probably benign
R9489:Myo1c UTSW 11 75,559,899 (GRCm39) missense probably benign 0.00
R9605:Myo1c UTSW 11 75,559,899 (GRCm39) missense probably benign 0.00
R9744:Myo1c UTSW 11 75,562,797 (GRCm39) missense probably damaging 1.00
R9782:Myo1c UTSW 11 75,549,273 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTAAGAACCTGCTGTGACTC -3'
(R):5'- AGGCTATCACTCAGGCTACTG -3'

Sequencing Primer
(F):5'- TGTGACTCTCGCTGGCAC -3'
(R):5'- GGCTACTGACAGAGATTCCTG -3'
Posted On 2018-07-24