Incidental Mutation 'R1171:Myo1b'
ID 99365
Institutional Source Beutler Lab
Gene Symbol Myo1b
Ensembl Gene ENSMUSG00000018417
Gene Name myosin IB
Synonyms
MMRRC Submission 039244-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.691) question?
Stock # R1171 (G1)
Quality Score 169
Status Not validated
Chromosome 1
Chromosomal Location 51788917-51955143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 51817684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 532 (F532C)
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: F526C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: F526C

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: F526C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: F526C

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: F526C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: F526C

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: F532C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: F532C

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
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.2%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,140,075 (GRCm39) E492V probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atr T C 9: 95,789,376 (GRCm39) F1511L probably damaging Het
Bdkrb2 G T 12: 105,558,416 (GRCm39) R219L probably benign Het
Bhmt2 A T 13: 93,798,837 (GRCm39) M328K probably benign Het
Btbd3 A G 2: 138,125,881 (GRCm39) D286G probably benign Het
Bub1b T G 2: 118,437,167 (GRCm39) L122V probably benign Het
Caml T C 13: 55,772,820 (GRCm39) S155P probably damaging Het
Cfap43 T C 19: 47,824,150 (GRCm39) K74E probably benign Het
Chst4 A G 8: 110,757,255 (GRCm39) S120P probably damaging Het
Col11a1 A G 3: 113,860,213 (GRCm39) D213G unknown Het
Cripto C A 9: 110,772,235 (GRCm39) V54L probably benign Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,495,941 (GRCm39) probably null Het
Cxcl10 CAC CACTAAC 5: 92,495,945 (GRCm39) probably null Het
Cyp26b1 A T 6: 84,553,653 (GRCm39) I167N possibly damaging Het
Dchs1 A G 7: 105,406,921 (GRCm39) S2195P probably benign Het
Ddx25 T A 9: 35,458,142 (GRCm39) K326* probably null Het
Dip2c A T 13: 9,543,162 (GRCm39) Y36F possibly damaging Het
Dock2 T C 11: 34,586,068 (GRCm39) D538G probably damaging Het
E4f1 C T 17: 24,670,523 (GRCm39) D55N probably damaging Het
Emp1 G T 6: 135,358,077 (GRCm39) W141L probably damaging Het
Faim2 T A 15: 99,398,135 (GRCm39) H271L probably benign Het
Fbxw9 T C 8: 85,792,707 (GRCm39) M352T possibly damaging Het
Fcrl2 A T 3: 87,164,167 (GRCm39) F321I probably benign Het
Frzb C T 2: 80,268,834 (GRCm39) probably null Het
Gal3st1 G T 11: 3,948,931 (GRCm39) K379N probably damaging Het
Gm5519 G A 19: 33,800,372 (GRCm39) C22Y possibly damaging Het
Gpn3 T C 5: 122,516,583 (GRCm39) F71L probably benign Het
H2-M9 A G 17: 36,952,545 (GRCm39) V167A probably benign Het
Hars1 A G 18: 36,904,467 (GRCm39) F182L possibly damaging Het
Hid1 T C 11: 115,243,543 (GRCm39) T502A probably benign Het
Hipk3 G T 2: 104,302,021 (GRCm39) T57K probably benign Het
Iqsec2 A G X: 150,927,727 (GRCm39) S87G probably benign Het
Itpk1 G A 12: 102,572,378 (GRCm39) L112F probably damaging Het
Klk1b9 T A 7: 43,443,817 (GRCm39) D110E possibly damaging Het
Lemd3 A T 10: 120,785,246 (GRCm39) M535K possibly damaging Het
Lipg A T 18: 75,078,894 (GRCm39) S453T possibly damaging Het
Lrrc75a A T 11: 62,500,069 (GRCm39) W150R probably damaging Het
Lyg1 T C 1: 37,986,305 (GRCm39) E143G probably damaging Het
Map3k1 A G 13: 111,892,177 (GRCm39) V1026A probably benign Het
Mgat3 T A 15: 80,095,838 (GRCm39) F222I probably benign Het
Mindy4 A T 6: 55,232,601 (GRCm39) N348I possibly damaging Het
Ms4a20 T C 19: 11,089,741 (GRCm39) Y48C probably damaging Het
Naif1 T A 2: 32,342,558 (GRCm39) N36K probably damaging Het
Nkpd1 C A 7: 19,258,012 (GRCm39) A597E possibly damaging Het
Npr2 A G 4: 43,647,260 (GRCm39) D772G possibly damaging Het
Or52n4 T G 7: 104,294,204 (GRCm39) D123A probably damaging Het
Or6a2 T C 7: 106,600,791 (GRCm39) N92S probably benign Het
Pcolce2 A T 9: 95,576,793 (GRCm39) M355L probably benign Het
Pdgfra A T 5: 75,334,108 (GRCm39) I394F probably damaging Het
Pdzrn3 G A 6: 101,127,838 (GRCm39) R943C probably damaging Het
Pml A G 9: 58,141,821 (GRCm39) V337A probably damaging Het
Pnpla2 T A 7: 141,038,794 (GRCm39) M321K probably benign Het
Poln A T 5: 34,261,284 (GRCm39) N546K probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prss28 T A 17: 25,529,029 (GRCm39) F123L possibly damaging Het
Psg18 A G 7: 18,080,004 (GRCm39) V399A probably benign Het
Rab5a T C 17: 53,813,443 (GRCm39) C212R probably damaging Het
Ranbp6 A T 19: 29,789,679 (GRCm39) D224E probably benign Het
Recql4 T C 15: 76,588,239 (GRCm39) I1104M possibly damaging Het
Rev1 A T 1: 38,127,581 (GRCm39) N226K possibly damaging Het
Rhbdl3 T A 11: 80,244,418 (GRCm39) V375E possibly damaging Het
Senp6 T A 9: 80,024,007 (GRCm39) N423K possibly damaging Het
Sertad2 C G 11: 20,598,091 (GRCm39) L96V probably benign Het
Slc33a1 T A 3: 63,861,315 (GRCm39) T296S probably benign Het
Smurf2 G A 11: 106,743,444 (GRCm39) P188S possibly damaging Het
Spta1 T A 1: 174,039,180 (GRCm39) Y1174* probably null Het
Stra6l A T 4: 45,864,982 (GRCm39) T103S probably benign Het
Swt1 C T 1: 151,281,272 (GRCm39) A352T probably damaging Het
Thoc2l T C 5: 104,668,769 (GRCm39) V1097A possibly damaging Het
Tigd2 T A 6: 59,188,361 (GRCm39) N409K possibly damaging Het
Tlr6 G T 5: 65,112,593 (GRCm39) H105N probably benign Het
Tmprss9 A C 10: 80,715,692 (GRCm39) T15P possibly damaging Het
Tnik C T 3: 28,587,089 (GRCm39) T120M probably damaging Het
Tnr T A 1: 159,685,780 (GRCm39) I337N probably damaging Het
Top3a A G 11: 60,641,419 (GRCm39) Y422H probably benign Het
Trim67 A G 8: 125,555,820 (GRCm39) N768S probably damaging Het
Ttn A G 2: 76,536,310 (GRCm39) V35016A probably benign Het
Utrn A C 10: 12,357,052 (GRCm39) S312R probably damaging Het
Vdac2 A G 14: 21,887,879 (GRCm39) Y62C probably damaging Het
Vwa5b2 A G 16: 20,423,734 (GRCm39) T1216A probably benign Het
Wfdc16 T C 2: 164,480,403 (GRCm39) K31E possibly damaging Het
Wtip C T 7: 33,824,921 (GRCm39) C221Y probably damaging Het
Xrn1 A G 9: 95,873,064 (GRCm39) D640G possibly damaging Het
Zdhhc5 T C 2: 84,522,685 (GRCm39) R293G probably benign Het
Zfp536 T C 7: 37,269,059 (GRCm39) D119G probably damaging Het
Zfp81 T C 17: 33,554,254 (GRCm39) T187A probably benign Het
Zfp810 C T 9: 22,190,122 (GRCm39) G262D possibly damaging Het
Zfp963 A C 8: 70,195,669 (GRCm39) I203M possibly damaging Het
Zfpm2 T C 15: 40,965,075 (GRCm39) M520T probably damaging Het
Zswim8 G A 14: 20,763,181 (GRCm39) R360Q possibly damaging Het
Zwilch T A 9: 64,065,999 (GRCm39) H254L possibly damaging 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
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
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
Predicted Primers
Posted On 2014-01-15