Incidental Mutation 'R5589:Myo1c'
ID 437365
Institutional Source Beutler Lab
Gene Symbol Myo1c
Ensembl Gene ENSMUSG00000017774
Gene Name myosin IC
Synonyms myr2, mm1beta, C80397, myosin-Ibeta
MMRRC Submission 043142-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.697) question?
Stock # R5589 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 75541330-75564736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75548414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 58 (T58A)
Ref Sequence ENSEMBL: ENSMUSP00000099563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069057] [ENSMUST00000102504] [ENSMUST00000102505] [ENSMUST00000108431] [ENSMUST00000136935]
AlphaFold Q9WTI7
Predicted Effect possibly damaging
Transcript: ENSMUST00000069057
AA Change: T23A

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: T23A

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 possibly damaging
Transcript: ENSMUST00000102504
AA Change: T23A

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: T23A

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 possibly damaging
Transcript: ENSMUST00000102505
AA Change: T58A

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: T58A

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: T39A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: T39A

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 probably benign
Transcript: ENSMUST00000136935
AA Change: T61A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121267
Gene: ENSMUSG00000017774
AA Change: T61A

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
PDB:4BYF|C 39 80 5e-21 PDB
Blast:MYSc 43 80 9e-19 BLAST
SCOP:d1lkxa_ 50 80 3e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151174
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,468,066 (GRCm39) M76L probably benign Het
Adrm1b T A 3: 92,336,112 (GRCm39) probably benign Het
Alg1 T A 16: 5,053,086 (GRCm39) W116R probably benign Het
Ano3 A T 2: 110,715,340 (GRCm39) S33T probably damaging Het
Atp2b2 T C 6: 113,751,400 (GRCm39) E556G possibly damaging Het
Brca2 T A 5: 150,480,597 (GRCm39) I2761K possibly damaging Het
Ccdc68 G A 18: 70,079,577 (GRCm39) G141E probably benign Het
Cckbr T C 7: 105,083,732 (GRCm39) V220A probably damaging Het
Ccnd3 G A 17: 47,909,544 (GRCm39) R45Q probably damaging Het
Cdh24 G T 14: 54,874,832 (GRCm39) T391N probably damaging Het
Cldn11 A G 3: 31,204,395 (GRCm39) T33A probably damaging Het
Clec2e T A 6: 129,075,391 (GRCm39) Y50F probably benign Het
Cntnap1 A G 11: 101,075,944 (GRCm39) N943D probably benign Het
Cspg4b A G 13: 113,454,484 (GRCm39) R177G possibly damaging Het
Dmgdh T C 13: 93,813,665 (GRCm39) V70A probably damaging Het
Gm14496 C A 2: 181,637,674 (GRCm39) Y249* probably null Het
Gmnc T A 16: 26,781,714 (GRCm39) H105L probably damaging Het
Gpt2 A G 8: 86,219,740 (GRCm39) Y62C probably damaging Het
Ift80 T C 3: 68,838,233 (GRCm39) R413G probably damaging Het
Kctd16 C A 18: 40,392,061 (GRCm39) D216E probably damaging Het
Kif26b T C 1: 178,743,864 (GRCm39) V873A probably benign Het
Klra4 G T 6: 130,039,117 (GRCm39) Q92K probably benign Het
L1td1 C A 4: 98,626,341 (GRCm39) N845K possibly damaging Het
Lama3 C T 18: 12,605,277 (GRCm39) T1077I possibly damaging Het
Loxhd1 T C 18: 77,429,751 (GRCm39) I230T possibly damaging Het
Lsg1 T C 16: 30,399,819 (GRCm39) N160S probably damaging Het
Lyzl4 G A 9: 121,413,469 (GRCm39) R24C probably damaging Het
Mib1 A G 18: 10,794,488 (GRCm39) N658S probably benign Het
Mmp8 T C 9: 7,566,275 (GRCm39) I377T probably damaging Het
Mtmr14 T C 6: 113,238,243 (GRCm39) probably null Het
Myo9a C T 9: 59,802,527 (GRCm39) Q2005* probably null Het
Neu3 G T 7: 99,472,636 (GRCm39) P34T probably benign Het
Nlrp4b G A 7: 10,449,512 (GRCm39) V205I probably benign Het
Or4b1b C T 2: 90,112,313 (GRCm39) G202D probably damaging Het
Or4k38 T C 2: 111,165,850 (GRCm39) N191S possibly damaging Het
Or5h23 A T 16: 58,906,334 (GRCm39) S171T probably benign Het
Or5t15 A G 2: 86,681,118 (GRCm39) I308T unknown Het
Or6c66 T G 10: 129,461,319 (GRCm39) T204P probably damaging Het
Or9m1 T C 2: 87,733,691 (GRCm39) T110A probably benign Het
Pcsk6 T C 7: 65,578,933 (GRCm39) probably null Het
Pik3c2a A G 7: 116,016,893 (GRCm39) V288A probably benign Het
Plcd3 T C 11: 102,968,629 (GRCm39) D354G probably benign Het
Prkdc C A 16: 15,524,655 (GRCm39) N1219K probably benign Het
Prl3d1 T A 13: 27,278,927 (GRCm39) Y41N probably damaging Het
Qrich2 C T 11: 116,332,234 (GRCm39) G2321R probably damaging Het
Rrbp1 T C 2: 143,831,886 (GRCm39) I94V probably benign Het
Serinc1 C A 10: 57,399,262 (GRCm39) V214L probably benign Het
Serpina9 G T 12: 103,967,728 (GRCm39) N222K probably benign Het
Smchd1 A G 17: 71,747,956 (GRCm39) Y429H probably damaging Het
Smyd1 C T 6: 71,239,164 (GRCm39) V9M probably damaging Het
Sostdc1 C T 12: 36,367,246 (GRCm39) Q141* probably null Het
Spam1 C T 6: 24,796,109 (GRCm39) T20I probably benign Het
Tex47 T C 5: 7,354,834 (GRCm39) V5A probably benign Het
Thbs4 T C 13: 92,912,582 (GRCm39) probably null Het
Trim45 C T 3: 100,837,257 (GRCm39) P531L probably damaging Het
Tshb A T 3: 102,685,478 (GRCm39) Y50* probably null Het
Ttn T C 2: 76,599,320 (GRCm39) I19230V probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uba6 G A 5: 86,270,288 (GRCm39) T832I probably damaging Het
Unc13d A T 11: 115,960,579 (GRCm39) V497D probably damaging Het
Usp13 T C 3: 32,892,007 (GRCm39) V62A probably damaging Het
Vmn1r215 A C 13: 23,260,189 (GRCm39) L76F probably damaging Het
Vmn1r215 G T 13: 23,260,190 (GRCm39) G77C probably damaging Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Zbtb40 T C 4: 136,722,594 (GRCm39) D828G probably damaging Het
Zfp74 A T 7: 29,633,990 (GRCm39) C573S 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
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
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'- TGTGTCCAAAGTGTCCCTGC -3'
(R):5'- TCTCGGTAGGGATTGACAGAG -3'

Sequencing Primer
(F):5'- CCTTCTACATCCTGCAGGCAG -3'
(R):5'- TCTCGGTAGGGATTGACAGAGACTAG -3'
Posted On 2016-10-26