Incidental Mutation 'R0007:Myo1b'
ID 8238
Institutional Source Beutler Lab
Gene Symbol Myo1b
Ensembl Gene ENSMUSG00000018417
Gene Name myosin IB
Synonyms
MMRRC Submission 038302-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.691) question?
Stock # R0007 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 51788917-51955143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51815413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 650 (R650S)
Ref Sequence ENSEMBL: ENSMUSP00000110188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018561] [ENSMUST00000046390] [ENSMUST00000114537] [ENSMUST00000114541]
AlphaFold P46735
Predicted Effect probably damaging
Transcript: ENSMUST00000018561
AA Change: R644S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: R644S

DomainStartEndE-ValueType
MYSc 9 702 N/A SMART
IQ 703 725 2.37e-3 SMART
IQ 726 748 2.43e0 SMART
IQ 749 771 5.24e-5 SMART
IQ 778 800 4.59e0 SMART
IQ 807 829 7.07e-2 SMART
IQ 836 858 3.3e-2 SMART
Pfam:Myosin_TH1 941 1128 3e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000046390
AA Change: R644S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: R644S

DomainStartEndE-ValueType
MYSc 9 702 N/A SMART
IQ 703 725 2.37e-3 SMART
IQ 726 748 2.43e0 SMART
IQ 749 771 5.24e-5 SMART
IQ 778 800 3.68e0 SMART
IQ 807 829 3.3e-2 SMART
Pfam:Myosin_TH1 911 1107 3.3e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114537
AA Change: R644S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: R644S

DomainStartEndE-ValueType
MYSc 9 702 N/A SMART
IQ 703 725 2.37e-3 SMART
IQ 726 748 2.43e0 SMART
IQ 749 771 5.24e-5 SMART
IQ 778 800 1.6e0 SMART
Pfam:Myosin_TH1 882 1078 1.9e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114541
AA Change: R650S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: R650S

DomainStartEndE-ValueType
MYSc 15 708 N/A SMART
IQ 709 731 2.37e-3 SMART
IQ 732 754 2.43e0 SMART
IQ 755 777 5.24e-5 SMART
IQ 784 806 1.6e0 SMART
Pfam:Myosin_TH1 888 1084 5.8e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136701
Meta Mutation Damage Score 0.8825 question?
Coding Region Coverage
  • 1x: 75.9%
  • 3x: 62.7%
  • 10x: 33.8%
  • 20x: 16.7%
Validation Efficiency 95% (54/57)
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,147,466 (GRCm39) probably benign Het
Cdh8 A T 8: 99,957,088 (GRCm39) L205* probably null Het
Cntnap2 A C 6: 45,969,007 (GRCm39) N250H possibly damaging Het
Col7a1 T C 9: 108,790,471 (GRCm39) V973A unknown Het
Denr T A 5: 124,062,877 (GRCm39) Y127N probably damaging Het
Diaph3 C A 14: 87,104,056 (GRCm39) R776L possibly damaging Het
F2 T C 2: 91,460,952 (GRCm39) E260G probably benign Het
Il1rl1 C T 1: 40,485,331 (GRCm39) T261I possibly damaging Het
Lama3 T A 18: 12,630,938 (GRCm39) probably benign Het
Map2k5 A T 9: 63,201,006 (GRCm39) I209N probably damaging Het
Nek10 T A 14: 14,840,574 (GRCm38) H153Q probably benign Het
Nlrp9a T C 7: 26,250,515 (GRCm39) probably benign Het
Pcnx4 T A 12: 72,602,353 (GRCm39) F281I possibly damaging Het
Pcsk5 C A 19: 17,632,225 (GRCm39) G314C probably damaging Het
Pkhd1l1 T C 15: 44,437,794 (GRCm39) probably benign Het
Polr2b T C 5: 77,488,284 (GRCm39) V828A probably benign Het
Slc44a4 G A 17: 35,140,230 (GRCm39) A60T probably damaging Het
Sparcl1 T A 5: 104,234,946 (GRCm39) Q523L probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trhr T C 15: 44,092,547 (GRCm39) probably benign Het
Trim16 A G 11: 62,719,944 (GRCm39) M84V probably benign Het
Trpm3 G A 19: 22,964,893 (GRCm39) A1453T probably benign Het
Zfp990 C A 4: 145,264,008 (GRCm39) H335Q probably benign Het
Other mutations in Myo1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Myo1b APN 1 51,803,113 (GRCm39) missense possibly damaging 0.94
IGL00943:Myo1b APN 1 51,823,646 (GRCm39) missense probably damaging 0.97
IGL01537:Myo1b APN 1 51,815,510 (GRCm39) missense possibly damaging 0.93
IGL01550:Myo1b APN 1 51,823,690 (GRCm39) missense probably damaging 1.00
IGL01610:Myo1b APN 1 51,815,405 (GRCm39) missense probably damaging 1.00
IGL01667:Myo1b APN 1 51,799,536 (GRCm39) missense probably damaging 1.00
IGL01743:Myo1b APN 1 51,821,179 (GRCm39) missense probably damaging 0.96
IGL01830:Myo1b APN 1 51,836,624 (GRCm39) nonsense probably null
IGL02070:Myo1b APN 1 51,833,496 (GRCm39) missense probably damaging 1.00
IGL02398:Myo1b APN 1 51,797,050 (GRCm39) missense probably damaging 1.00
IGL02582:Myo1b APN 1 51,821,133 (GRCm39) missense possibly damaging 0.88
IGL02685:Myo1b APN 1 51,817,658 (GRCm39) missense probably damaging 1.00
IGL02938:Myo1b APN 1 51,840,337 (GRCm39) splice site probably null
IGL02981:Myo1b APN 1 51,817,532 (GRCm39) missense probably damaging 1.00
Philemon UTSW 1 51,812,406 (GRCm39) missense possibly damaging 0.83
Phyllo UTSW 1 51,815,413 (GRCm39) missense probably damaging 1.00
R7347_myo1b_243 UTSW 1 51,790,413 (GRCm39) missense probably damaging 1.00
R0007:Myo1b UTSW 1 51,815,413 (GRCm39) missense probably damaging 1.00
R0035:Myo1b UTSW 1 51,817,541 (GRCm39) missense probably damaging 1.00
R0040:Myo1b UTSW 1 51,821,148 (GRCm39) missense probably damaging 1.00
R0040:Myo1b UTSW 1 51,821,148 (GRCm39) missense probably damaging 1.00
R0491:Myo1b UTSW 1 51,794,857 (GRCm39) missense probably benign 0.05
R0959:Myo1b UTSW 1 51,836,246 (GRCm39) missense probably damaging 1.00
R1171:Myo1b UTSW 1 51,817,684 (GRCm39) missense probably damaging 1.00
R1440:Myo1b UTSW 1 51,817,717 (GRCm39) splice site probably benign
R1539:Myo1b UTSW 1 51,838,722 (GRCm39) missense probably damaging 0.97
R1616:Myo1b UTSW 1 51,815,474 (GRCm39) missense probably damaging 1.00
R1888:Myo1b UTSW 1 51,799,562 (GRCm39) critical splice acceptor site probably null
R1888:Myo1b UTSW 1 51,799,562 (GRCm39) critical splice acceptor site probably null
R2697:Myo1b UTSW 1 51,902,517 (GRCm39) missense probably benign 0.04
R3034:Myo1b UTSW 1 51,812,406 (GRCm39) missense possibly damaging 0.83
R3720:Myo1b UTSW 1 51,815,505 (GRCm39) missense possibly damaging 0.79
R3896:Myo1b UTSW 1 51,812,420 (GRCm39) missense probably damaging 0.97
R4003:Myo1b UTSW 1 51,838,689 (GRCm39) critical splice donor site probably null
R4179:Myo1b UTSW 1 51,817,685 (GRCm39) missense probably damaging 1.00
R4308:Myo1b UTSW 1 51,922,268 (GRCm39) missense probably benign 0.01
R4444:Myo1b UTSW 1 51,797,078 (GRCm39) missense probably damaging 0.99
R4679:Myo1b UTSW 1 51,797,132 (GRCm39) missense possibly damaging 0.94
R4914:Myo1b UTSW 1 51,863,367 (GRCm39) splice site probably null
R5343:Myo1b UTSW 1 51,817,696 (GRCm39) missense probably benign 0.00
R5530:Myo1b UTSW 1 51,836,582 (GRCm39) missense probably damaging 1.00
R5636:Myo1b UTSW 1 51,836,687 (GRCm39) missense probably damaging 1.00
R5956:Myo1b UTSW 1 51,815,391 (GRCm39) missense probably damaging 1.00
R5974:Myo1b UTSW 1 51,817,532 (GRCm39) missense probably damaging 1.00
R6334:Myo1b UTSW 1 51,807,810 (GRCm39) missense probably null 0.36
R6346:Myo1b UTSW 1 51,823,666 (GRCm39) missense probably damaging 1.00
R6382:Myo1b UTSW 1 51,813,466 (GRCm39) splice site probably null
R6757:Myo1b UTSW 1 51,852,207 (GRCm39) missense probably damaging 1.00
R6952:Myo1b UTSW 1 51,801,668 (GRCm39) missense probably damaging 0.99
R7101:Myo1b UTSW 1 51,797,160 (GRCm39) missense probably benign 0.19
R7192:Myo1b UTSW 1 51,796,376 (GRCm39) missense probably damaging 0.99
R7347:Myo1b UTSW 1 51,790,413 (GRCm39) missense probably damaging 1.00
R7446:Myo1b UTSW 1 51,803,065 (GRCm39) missense possibly damaging 0.87
R7468:Myo1b UTSW 1 51,836,639 (GRCm39) missense possibly damaging 0.78
R7503:Myo1b UTSW 1 51,815,761 (GRCm39) splice site probably null
R7586:Myo1b UTSW 1 51,817,483 (GRCm39) missense probably damaging 0.99
R7712:Myo1b UTSW 1 51,832,836 (GRCm39) missense probably damaging 1.00
R7871:Myo1b UTSW 1 51,818,739 (GRCm39) missense possibly damaging 0.89
R7905:Myo1b UTSW 1 51,803,043 (GRCm39) splice site probably null
R8093:Myo1b UTSW 1 51,797,034 (GRCm39) critical splice donor site probably null
R8485:Myo1b UTSW 1 51,818,760 (GRCm39) missense probably damaging 1.00
R8705:Myo1b UTSW 1 51,902,495 (GRCm39) nonsense probably null
R8731:Myo1b UTSW 1 51,799,570 (GRCm39) splice site probably benign
R8735:Myo1b UTSW 1 51,794,896 (GRCm39) missense probably benign 0.27
R8859:Myo1b UTSW 1 51,836,198 (GRCm39) missense probably damaging 1.00
R9021:Myo1b UTSW 1 51,821,142 (GRCm39) missense possibly damaging 0.89
R9416:Myo1b UTSW 1 51,902,577 (GRCm39) missense probably damaging 0.99
R9583:Myo1b UTSW 1 51,796,404 (GRCm39) missense possibly damaging 0.79
R9713:Myo1b UTSW 1 51,818,766 (GRCm39) missense possibly damaging 0.50
X0065:Myo1b UTSW 1 51,836,554 (GRCm39) missense probably damaging 0.99
Posted On 2012-11-20