Incidental Mutation 'R0227:Myo1c'
ID 34003
Institutional Source Beutler Lab
Gene Symbol Myo1c
Ensembl Gene ENSMUSG00000017774
Gene Name myosin IC
Synonyms myr2, mm1beta, C80397, myosin-Ibeta
MMRRC Submission 038472-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.684) question?
Stock # R0227 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 75541330-75564736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75549520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 201 (Y201F)
Ref Sequence ENSEMBL: ENSMUSP00000099563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069057] [ENSMUST00000102504] [ENSMUST00000102505] [ENSMUST00000108431] [ENSMUST00000136935]
AlphaFold Q9WTI7
Predicted Effect probably benign
Transcript: ENSMUST00000069057
AA Change: Y166F

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: Y166F

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: Y166F

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: Y166F

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: Y201F

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: Y201F

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: Y182F

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: Y182F

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
SMART Domains Protein: ENSMUSP00000121267
Gene: ENSMUSG00000017774

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
Meta Mutation Damage Score 0.3874 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
Validation Efficiency 86% (37/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430038I01Rik A T 7: 136,989,438 (GRCm39) probably benign Het
Ankrd12 T A 17: 66,294,222 (GRCm39) T404S probably benign Het
Ap4m1 T C 5: 138,174,538 (GRCm39) probably benign Het
Atn1 A T 6: 124,723,893 (GRCm39) probably benign Het
Bcl9l A G 9: 44,416,533 (GRCm39) Y202C possibly damaging Het
Ceacam18 G T 7: 43,288,815 (GRCm39) G189C probably damaging Het
Cfap65 C T 1: 74,971,117 (GRCm39) W67* probably null Het
Col2a1 C T 15: 97,874,636 (GRCm39) E1334K unknown Het
Crim1 A G 17: 78,651,938 (GRCm39) probably benign Het
Csmd1 A G 8: 16,441,836 (GRCm39) S343P probably benign Het
D430041D05Rik G T 2: 104,035,545 (GRCm39) D1594E possibly damaging Het
Ess2 C T 16: 17,720,135 (GRCm39) V406I probably damaging Het
Gcm2 C T 13: 41,259,332 (GRCm39) V46M probably damaging Het
Gm3486 A T 14: 41,206,518 (GRCm39) V185E probably benign Het
Gtf3a C A 5: 146,892,199 (GRCm39) R317S probably damaging Het
Ice2 A G 9: 69,319,510 (GRCm39) I320V probably benign Het
Jag1 A G 2: 136,957,538 (GRCm39) V58A probably benign Het
Macf1 T C 4: 123,293,184 (GRCm39) E1241G probably benign Het
Mogat2 T A 7: 98,872,339 (GRCm39) I171F probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Myo9b A G 8: 71,796,806 (GRCm39) I884V probably damaging Het
Nudt9 T C 5: 104,209,541 (GRCm39) I264T possibly damaging Het
Or8g30 A G 9: 39,229,974 (GRCm39) V312A probably benign Het
Pdcd11 AGAGGAGGAGGAGGAGGAGGAGGAG AGAGGAGGAGGAGGAGGAGGAG 19: 47,101,876 (GRCm39) probably benign Het
Rabgef1 T C 5: 130,219,831 (GRCm39) V98A probably damaging Het
Raly A G 2: 154,707,841 (GRCm39) D287G probably damaging Het
Raph1 A G 1: 60,565,136 (GRCm39) V117A probably benign Het
Slc34a2 T C 5: 53,226,968 (GRCm39) F697S possibly damaging Het
Son T A 16: 91,453,761 (GRCm39) M836K probably damaging Het
Spock1 T C 13: 57,588,290 (GRCm39) M258V possibly damaging Het
Stk10 G T 11: 32,567,859 (GRCm39) C887F probably damaging Het
Synpo2 A G 3: 122,907,442 (GRCm39) S625P probably benign Het
Synrg T A 11: 83,900,258 (GRCm39) D821E probably damaging Het
Tafa5 T C 15: 87,604,691 (GRCm39) probably benign Het
Tg C A 15: 66,570,295 (GRCm39) A1389E possibly damaging Het
Tspan33 G A 6: 29,713,477 (GRCm39) V134M probably damaging Het
Ubr4 T C 4: 139,158,960 (GRCm39) F2438L probably benign Het
Vmn1r210 C T 13: 23,011,561 (GRCm39) V242I probably benign Het
Vmn1r63 C T 7: 5,805,741 (GRCm39) W297* probably null Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Zic5 A G 14: 122,697,073 (GRCm39) I514T unknown 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
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'- TTGCAGAGCAACCCCGTGTTAGAG -3'
(R):5'- AAGGCCCTCAGTGTATCTGGCTTC -3'

Sequencing Primer
(F):5'- CAACCCCGTGTTAGAGGTGAG -3'
(R):5'- tcaggaagaagaggcagaac -3'
Posted On 2013-05-09