Incidental Mutation 'R0667:Myo1c'
ID 62071
Institutional Source Beutler Lab
Gene Symbol Myo1c
Ensembl Gene ENSMUSG00000017774
Gene Name myosin IC
Synonyms myr2, mm1beta, C80397, myosin-Ibeta
MMRRC Submission 038852-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.684) question?
Stock # R0667 (G1)
Quality Score 115
Status Validated
Chromosome 11
Chromosomal Location 75541330-75564736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75559338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 650 (E650G)
Ref Sequence ENSEMBL: ENSMUSP00000104069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069057] [ENSMUST00000102504] [ENSMUST00000102505] [ENSMUST00000108431]
AlphaFold Q9WTI7
Predicted Effect probably damaging
Transcript: ENSMUST00000069057
AA Change: E634G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: E634G

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 damaging
Transcript: ENSMUST00000102504
AA Change: E634G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: E634G

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 damaging
Transcript: ENSMUST00000102505
AA Change: E669G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: E669G

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 damaging
Transcript: ENSMUST00000108431
AA Change: E650G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: E650G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148659
Meta Mutation Damage Score 0.1509 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G T 11: 110,218,637 (GRCm39) N76K probably benign Het
Adamts12 C T 15: 11,215,710 (GRCm39) R244C probably damaging Het
Atad2 A G 15: 57,962,115 (GRCm39) S1143P probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Cand1 A G 10: 119,052,425 (GRCm39) S234P probably benign Het
Cd200 T A 16: 45,215,220 (GRCm39) I144L probably benign Het
Cep76 A T 18: 67,767,848 (GRCm39) L228Q possibly damaging Het
Col12a1 A G 9: 79,535,744 (GRCm39) L2584S probably damaging Het
Col6a3 A C 1: 90,755,823 (GRCm39) D155E probably damaging Het
Col6a4 G A 9: 105,907,158 (GRCm39) probably benign Het
Dsg2 A C 18: 20,706,556 (GRCm39) D24A possibly damaging Het
Gm5901 G A 7: 105,026,697 (GRCm39) S155N possibly damaging Het
Hkdc1 T C 10: 62,247,644 (GRCm39) probably benign Het
Kansl1 A G 11: 104,234,364 (GRCm39) V714A probably benign Het
Kcnh1 T A 1: 192,188,346 (GRCm39) S936T probably benign Het
Klhdc3 A T 17: 46,988,151 (GRCm39) F205I probably benign Het
Krt31 T A 11: 99,938,951 (GRCm39) H290L probably benign Het
Lama2 T A 10: 27,220,406 (GRCm39) probably null Het
Mep1a T G 17: 43,789,081 (GRCm39) D565A probably benign Het
Mgme1 T A 2: 144,120,907 (GRCm39) probably benign Het
Mtf2 C T 5: 108,252,369 (GRCm39) T409I probably damaging Het
Mylk3 A G 8: 86,081,794 (GRCm39) probably null Het
Nipbl A C 15: 8,390,488 (GRCm39) D260E possibly damaging Het
Nufip2 T A 11: 77,582,839 (GRCm39) V251D possibly damaging Het
Or2n1e C A 17: 38,586,048 (GRCm39) P129T probably damaging Het
Or4a2 T C 2: 89,248,032 (GRCm39) I242V probably benign Het
Or7g35 T A 9: 19,496,743 (GRCm39) N303K probably benign Het
Osm G T 11: 4,189,918 (GRCm39) R234L possibly damaging Het
Pabpc1 G A 15: 36,598,275 (GRCm39) A515V probably benign Het
Piwil1 T A 5: 128,818,542 (GRCm39) probably null Het
Pld1 A G 3: 28,133,327 (GRCm39) probably null Het
Plekhg3 C T 12: 76,623,372 (GRCm39) R871C probably damaging Het
Ppfia2 A T 10: 106,749,555 (GRCm39) Y1147F probably damaging Het
Prmt3 A G 7: 49,441,743 (GRCm39) Y240C probably damaging Het
Prr36 G T 8: 4,266,311 (GRCm39) probably benign Het
Ptprd A G 4: 75,875,583 (GRCm39) I908T probably damaging Het
Sae1 A T 7: 16,102,457 (GRCm39) N172K probably damaging Het
Satb1 T G 17: 52,089,889 (GRCm39) Q319H probably damaging Het
Scart2 C G 7: 139,841,450 (GRCm39) S251R possibly damaging Het
Scn2a A T 2: 65,582,340 (GRCm39) I1563F possibly damaging Het
Scn3a C A 2: 65,314,755 (GRCm39) R1102L probably null Het
Serpinb9b T A 13: 33,216,909 (GRCm39) L60* probably null Het
Setd1a A G 7: 127,385,765 (GRCm39) D281G probably damaging Het
Slc8a1 C A 17: 81,956,310 (GRCm39) V243F probably damaging Het
Tgfbr3 A T 5: 107,325,716 (GRCm39) H115Q probably benign Het
Tiam1 C A 16: 89,694,872 (GRCm39) S195I probably damaging Het
Tjp2 A G 19: 24,086,113 (GRCm39) V803A probably benign Het
Ttc5 T A 14: 51,003,415 (GRCm39) Q423L probably benign Het
Tyk2 A C 9: 21,020,167 (GRCm39) V997G probably damaging Het
Uhrf1 T C 17: 56,617,677 (GRCm39) V133A probably benign Het
Vmn2r107 A C 17: 20,575,916 (GRCm39) Y82S possibly damaging Het
Vmn2r93 T C 17: 18,546,503 (GRCm39) F792L probably damaging Het
Vps13c G A 9: 67,858,855 (GRCm39) W2768* probably null Het
Zfp456 A T 13: 67,514,861 (GRCm39) C282S probably benign Het
Zhx1 T C 15: 57,916,561 (GRCm39) N562D possibly damaging Het
Zmynd15 G T 11: 70,355,944 (GRCm39) G481C probably 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
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
R6700: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'- TCTCAGGAAGAGCCTAAGGACCAC -3'
(R):5'- CATCTCTGGTAGCAGCCTGTCAAC -3'

Sequencing Primer
(F):5'- AGCCTAAGGACCACCTTTGTTAC -3'
(R):5'- AGCCTGTCAACGTGCTC -3'
Posted On 2013-07-30