Incidental Mutation 'R4770:Myo1c'
ID 367428
Institutional Source Beutler Lab
Gene Symbol Myo1c
Ensembl Gene ENSMUSG00000017774
Gene Name myosin IC
Synonyms myr2, mm1beta, C80397, myosin-Ibeta
MMRRC Submission 042410-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.697) question?
Stock # R4770 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 75541330-75564736 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 75551139 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 238 (L238*)
Ref Sequence ENSEMBL: ENSMUSP00000104069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069057] [ENSMUST00000102504] [ENSMUST00000102505] [ENSMUST00000108431] [ENSMUST00000136935]
AlphaFold Q9WTI7
Predicted Effect probably null
Transcript: ENSMUST00000069057
AA Change: L222*
SMART Domains Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: L222*

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 null
Transcript: ENSMUST00000102504
AA Change: L222*
SMART Domains Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: L222*

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 null
Transcript: ENSMUST00000102505
AA Change: L257*
SMART Domains Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: L257*

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 null
Transcript: ENSMUST00000108431
AA Change: L238*
SMART Domains Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: L238*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 93% (89/96)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,962,341 (GRCm39) V503A possibly damaging Het
Agps T A 2: 75,722,199 (GRCm39) F463Y possibly damaging Het
Ajm1 G A 2: 25,469,759 (GRCm39) R51C possibly damaging Het
Amigo3 A T 9: 107,930,734 (GRCm39) L52F probably damaging Het
Anapc1 T C 2: 128,527,980 (GRCm39) probably benign Het
Ankrd36 G T 11: 5,540,870 (GRCm39) C312F possibly damaging Het
Asic2 A C 11: 80,862,318 (GRCm39) D226E probably benign Het
Atp8b2 T A 3: 89,864,374 (GRCm39) Q197L probably damaging Het
C2cd3 A G 7: 100,092,642 (GRCm39) Y495C probably damaging Het
Ccdc51 A G 9: 108,919,978 (GRCm39) T125A probably benign Het
Ccser1 A G 6: 61,288,485 (GRCm39) Y216C possibly damaging Het
Cimap1b A G 15: 89,263,326 (GRCm39) I19T probably damaging Het
Cntfr A T 4: 41,663,282 (GRCm39) I175N possibly damaging Het
Cox10 G A 11: 63,854,989 (GRCm39) R431W probably benign Het
Cubn T C 2: 13,319,578 (GRCm39) T2881A possibly damaging Het
Cyp2d9 T A 15: 82,336,774 (GRCm39) V41E probably damaging Het
Dmrtb1 C T 4: 107,540,986 (GRCm39) G125D probably benign Het
Dscaml1 C T 9: 45,581,404 (GRCm39) R408C probably damaging Het
Duox2 A T 2: 122,115,397 (GRCm39) S1052T probably benign Het
Ecm1 A G 3: 95,645,273 (GRCm39) probably benign Het
Edrf1 G T 7: 133,260,339 (GRCm39) M83I probably damaging Het
Epb41l1 T A 2: 156,371,344 (GRCm39) M727K probably benign Het
Exosc9 T C 3: 36,607,984 (GRCm39) V64A probably damaging Het
Ezh2 A T 6: 47,517,630 (GRCm39) I564N probably damaging Het
Fam89b C A 19: 5,779,482 (GRCm39) R25L probably damaging Het
Fgr C T 4: 132,714,602 (GRCm39) T98M probably damaging Het
Fhip2b T A 14: 70,825,727 (GRCm39) D351V probably damaging Het
Gapvd1 A G 2: 34,581,193 (GRCm39) S1089P probably damaging Het
Gbp5 A T 3: 142,213,837 (GRCm39) I544F possibly damaging Het
Gli2 C A 1: 118,910,318 (GRCm39) probably benign Het
Gm9934 A G 7: 92,702,192 (GRCm39) noncoding transcript Het
Greb1 A T 12: 16,731,357 (GRCm39) D1660E probably benign Het
Gtf2i T A 5: 134,272,414 (GRCm39) N750I possibly damaging Het
H2-DMb2 G C 17: 34,367,698 (GRCm39) D171H probably damaging Het
Il11ra1 A G 4: 41,768,187 (GRCm39) E366G probably damaging Het
Itga2b A G 11: 102,351,582 (GRCm39) F581S probably damaging Het
Itsn2 T A 12: 4,677,892 (GRCm39) M83K probably damaging Het
Kif27 G A 13: 58,492,191 (GRCm39) T316M probably damaging Het
Lad1 A T 1: 135,753,531 (GRCm39) Q26L probably damaging Het
Lrrn3 T A 12: 41,502,442 (GRCm39) H625L probably benign Het
Mast1 A G 8: 85,655,875 (GRCm39) V155A probably benign Het
Mast3 G A 8: 71,238,864 (GRCm39) T480M probably damaging Het
Mpc1 C T 17: 8,512,377 (GRCm39) probably benign Het
Mycbp2 T A 14: 103,457,380 (GRCm39) M1606L probably benign Het
Nanog T G 6: 122,688,550 (GRCm39) S44A possibly damaging Het
Neb T C 2: 52,039,165 (GRCm39) Q6958R probably benign Het
Ngef C T 1: 87,405,283 (GRCm39) R709H probably damaging Het
Nr1d1 A G 11: 98,661,471 (GRCm39) V265A probably benign Het
Nr3c2 A G 8: 77,634,872 (GRCm39) probably null Het
Olfm5 A G 7: 103,809,685 (GRCm39) S164P probably benign Het
Parvb T C 15: 84,188,106 (GRCm39) probably null Het
Pde4dip G T 3: 97,674,400 (GRCm39) A172D probably damaging Het
Phf2 A G 13: 48,957,079 (GRCm39) L1096P probably damaging Het
Pik3r6 T A 11: 68,420,720 (GRCm39) V155E probably damaging Het
Pinx1 T G 14: 64,109,820 (GRCm39) V124G probably damaging Het
Poglut1 A G 16: 38,355,119 (GRCm39) Y236H probably damaging Het
Pou4f2 T A 8: 79,163,030 (GRCm39) M2L unknown Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Pramel26 C T 4: 143,538,519 (GRCm39) E151K probably damaging Het
Prkaca A G 8: 84,717,499 (GRCm39) N209S probably benign Het
Ring1 G A 17: 34,242,361 (GRCm39) P49S probably damaging Het
Rnf20 T A 4: 49,633,412 (GRCm39) probably null Het
Rnf25 G A 1: 74,633,099 (GRCm39) R418C probably damaging Het
Ryr1 G T 7: 28,808,707 (GRCm39) P462Q probably damaging Het
Serpinb3d A G 1: 107,006,008 (GRCm39) F360S probably damaging Het
Setd7 T C 3: 51,428,843 (GRCm39) E329G probably damaging Het
Slco2b1 C T 7: 99,320,156 (GRCm39) probably null Het
Snap91 G A 9: 86,655,654 (GRCm39) T844I possibly damaging Het
Snhg5 C T 9: 88,404,424 (GRCm39) noncoding transcript Het
Son T A 16: 91,455,756 (GRCm39) V1501E probably damaging Het
Syncrip T A 9: 88,361,905 (GRCm39) E70V probably damaging Het
Tas2r125 A G 6: 132,886,750 (GRCm39) D46G probably damaging Het
Tmem115 G A 9: 107,412,156 (GRCm39) R160Q probably benign Het
Trerf1 G A 17: 47,630,581 (GRCm39) noncoding transcript Het
Tut7 A G 13: 59,920,698 (GRCm39) probably benign Het
Uggt2 A T 14: 119,266,466 (GRCm39) probably null Het
Ush2a G T 1: 188,282,076 (GRCm39) V1864F probably benign Het
Xkr4 A T 1: 3,286,714 (GRCm39) V492D probably damaging Het
Zfp646 T A 7: 127,482,649 (GRCm39) S1609T possibly damaging Het
Zfp65 A T 13: 67,856,477 (GRCm39) H277Q probably damaging Het
Zfp69 A G 4: 120,791,614 (GRCm39) S176P probably damaging Het
Zfp747 C T 7: 126,974,971 (GRCm39) A10T probably damaging Het
Zfp850 T C 7: 27,684,411 (GRCm39) probably null 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
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'- AGACAGCTTCTTTCCCCTGG -3'
(R):5'- TGAAGTCAATGACGGACAGC -3'

Sequencing Primer
(F):5'- GTCCAGCTGACCATCCCTG -3'
(R):5'- AATGACGGACAGCGCCTTC -3'
Posted On 2015-12-29