Incidental Mutation 'R0200:Myo1c'
ID 23583
Institutional Source Beutler Lab
Gene Symbol Myo1c
Ensembl Gene ENSMUSG00000017774
Gene Name myosin IC
Synonyms myr2, mm1beta, C80397, myosin-Ibeta
MMRRC Submission 038457-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.684) question?
Stock # R0200 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 75541330-75564736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75563008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 997 (D997E)
Ref Sequence ENSEMBL: ENSMUSP00000099562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069057] [ENSMUST00000102504] [ENSMUST00000102505] [ENSMUST00000108431]
AlphaFold Q9WTI7
Predicted Effect probably benign
Transcript: ENSMUST00000069057
AA Change: D997E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: D997E

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: D997E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: D997E

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: D1032E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: D1032E

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: D1013E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: D1013E

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 86.2%
Validation Efficiency
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,336,502 (GRCm39) K466E probably damaging Het
Abcc3 T C 11: 94,245,900 (GRCm39) D1245G probably damaging Het
Adam12 T C 7: 133,576,145 (GRCm39) probably null Het
Akap11 A G 14: 78,748,193 (GRCm39) V1398A probably benign Het
Ank1 T G 8: 23,586,828 (GRCm39) L461R probably damaging Het
Ankfn1 T C 11: 89,332,792 (GRCm39) S402G possibly damaging Het
Arhgef40 A C 14: 52,234,431 (GRCm39) E911D probably damaging Het
Atp2b1 C T 10: 98,815,676 (GRCm39) Q107* probably null Het
Cacng3 T A 7: 122,271,008 (GRCm39) C4* probably null Het
Cds1 G A 5: 101,962,299 (GRCm39) V305M probably damaging Het
Cecr2 T G 6: 120,738,758 (GRCm39) F1162V probably damaging Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Chrm5 A G 2: 112,311,065 (GRCm39) V17A probably benign Het
Col20a1 T C 2: 180,642,231 (GRCm39) I714T probably damaging Het
Cpeb2 T A 5: 43,419,119 (GRCm39) M156K possibly damaging Het
Cstdc6 T C 16: 36,143,386 (GRCm39) probably null Het
Defb25 C A 2: 152,464,332 (GRCm39) V71L probably benign Het
Dhx35 A T 2: 158,671,543 (GRCm39) M325L probably benign Het
Dhx57 A T 17: 80,558,902 (GRCm39) L1019H probably damaging Het
Dnah6 T A 6: 73,046,403 (GRCm39) D3195V probably damaging Het
Dph5 A G 3: 115,722,352 (GRCm39) S277G probably benign Het
Dpm1 C A 2: 168,065,075 (GRCm39) probably null Het
Dsg1a A T 18: 20,473,995 (GRCm39) M1023L probably benign Het
Egf A G 3: 129,499,882 (GRCm39) Y252H probably benign Het
Egf A G 3: 129,531,198 (GRCm39) S126P probably damaging Het
Enam T C 5: 88,640,886 (GRCm39) W183R possibly damaging Het
Foxn1 T C 11: 78,251,866 (GRCm39) Y455C probably damaging Het
Iars1 A T 13: 49,879,678 (GRCm39) D983V possibly damaging Het
Ikzf4 C A 10: 128,470,545 (GRCm39) G325V probably damaging Het
Il1rl1 T A 1: 40,480,463 (GRCm39) W31R possibly damaging Het
Ip6k3 C T 17: 27,363,999 (GRCm39) D350N probably damaging Het
Irgc T C 7: 24,131,431 (GRCm39) D462G probably benign Het
Itprid1 T C 6: 55,874,941 (GRCm39) L297P probably benign Het
Jph3 A G 8: 122,511,572 (GRCm39) E520G probably benign Het
Kcna2 T A 3: 107,012,476 (GRCm39) D352E probably benign Het
Klk4 T A 7: 43,534,785 (GRCm39) I248N probably damaging Het
Krtap16-1 T C 11: 99,876,123 (GRCm39) Y427C probably damaging Het
Lgr4 A G 2: 109,801,035 (GRCm39) probably null Het
Lhpp C T 7: 132,212,406 (GRCm39) probably benign Het
Lypd3 T A 7: 24,339,656 (GRCm39) V241D probably damaging Het
Lyz2 T A 10: 117,116,678 (GRCm39) N57Y possibly damaging Het
Man1a A G 10: 53,950,594 (GRCm39) V176A probably damaging Het
Mcm4 G A 16: 15,447,503 (GRCm39) T487I probably benign Het
Mettl21c T A 1: 44,052,814 (GRCm39) I68F probably damaging Het
Miip T A 4: 147,946,720 (GRCm39) T313S probably damaging Het
Minar2 A G 18: 59,195,531 (GRCm39) probably null Het
Mog A T 17: 37,323,311 (GRCm39) I209K probably damaging Het
Npc1 T C 18: 12,352,261 (GRCm39) Y146C probably damaging Het
Nploc4 A G 11: 120,304,507 (GRCm39) L238P probably damaging Het
Opa1 A G 16: 29,432,947 (GRCm39) N544S probably benign Het
Or2j6 T C 7: 139,980,788 (GRCm39) Y57C probably damaging Het
Or2v1 T A 11: 49,025,874 (GRCm39) M285K probably damaging Het
Or6k6 T C 1: 173,945,078 (GRCm39) H168R probably benign Het
Pam C T 1: 97,822,126 (GRCm39) probably null Het
Pdgfra T C 5: 75,324,438 (GRCm39) Y98H probably damaging Het
Plcz1 C T 6: 139,936,459 (GRCm39) R590H probably damaging Het
Plxdc1 T C 11: 97,824,838 (GRCm39) Y339C probably damaging Het
Plxna1 T C 6: 89,300,575 (GRCm39) N1583S probably damaging Het
Plxna4 C T 6: 32,174,023 (GRCm39) V1191M probably damaging Het
Polk T A 13: 96,633,330 (GRCm39) N238Y probably benign Het
Ptprq T C 10: 107,521,018 (GRCm39) N718S probably benign Het
Rsrc1 A T 3: 67,088,194 (GRCm39) H176L probably damaging Het
Sbno1 T C 5: 124,522,604 (GRCm39) D1072G probably damaging Het
Scmh1 A G 4: 120,341,028 (GRCm39) K238R probably damaging Het
Senp7 A G 16: 55,944,236 (GRCm39) T187A possibly damaging Het
Slc12a4 T C 8: 106,678,249 (GRCm39) R315G probably benign Het
Slc16a10 A G 10: 39,916,612 (GRCm39) V430A probably benign Het
Slc26a7 T C 4: 14,621,317 (GRCm39) D23G probably benign Het
Slc28a2b T A 2: 122,357,928 (GRCm39) *661R probably null Het
Slc7a7 A G 14: 54,615,259 (GRCm39) L246P probably damaging Het
Spata7 T A 12: 98,629,428 (GRCm39) S332T probably benign Het
Spsb1 A G 4: 149,982,673 (GRCm39) *274R probably null Het
Sspo T G 6: 48,463,349 (GRCm39) V3767G probably null Het
Syt10 C A 15: 89,711,144 (GRCm39) A130S probably benign Het
Tgm6 T A 2: 129,994,865 (GRCm39) probably null Het
Them7 A C 2: 105,128,262 (GRCm39) N81T probably damaging Het
Tinag C A 9: 76,859,217 (GRCm39) A464S probably damaging Het
Tmem217 T G 17: 29,745,284 (GRCm39) I149L probably benign Het
Trp53rkb T G 2: 166,637,603 (GRCm39) D186E probably damaging Het
Vmn1r20 T C 6: 57,409,084 (GRCm39) Y137H probably damaging Het
Vmn1r60 T A 7: 5,547,379 (GRCm39) L240F probably benign Het
Vmn1r64 A G 7: 5,886,817 (GRCm39) M242T probably benign Het
Xkr4 T C 1: 3,740,886 (GRCm39) N229S probably benign Het
Zcchc2 T A 1: 105,931,853 (GRCm39) L352M probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp638 T C 6: 83,944,336 (GRCm39) L1018P 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
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
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'- GCTGACCGCGTGAACAATATCAAC -3'
(R):5'- AATACCTGCTTGCCAGAGTGAACC -3'

Sequencing Primer
(F):5'- TATCAACATCAACCAGGGCAGG -3'
(R):5'- CACCATAGGGGTCCAAGC -3'
Posted On 2013-04-16