Incidental Mutation 'IGL02938:Myo1b'
ID 364447
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo1b
Ensembl Gene ENSMUSG00000018417
Gene Name myosin IB
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.691) question?
Stock # IGL02938
Quality Score
Status
Chromosome 1
Chromosomal Location 51788917-51955143 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to C at 51840337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018561] [ENSMUST00000046390] [ENSMUST00000114537] [ENSMUST00000114541] [ENSMUST00000144694]
AlphaFold P46735
Predicted Effect probably null
Transcript: ENSMUST00000018561
SMART Domains Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417

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 null
Transcript: ENSMUST00000046390
SMART Domains Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417

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 null
Transcript: ENSMUST00000114537
SMART Domains Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417

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 null
Transcript: ENSMUST00000114541
SMART Domains Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417

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: ENSMUST00000135125
Predicted Effect probably null
Transcript: ENSMUST00000144694
SMART Domains Protein: ENSMUSP00000114603
Gene: ENSMUSG00000018417

DomainStartEndE-ValueType
MYSc 9 299 4.69e-32 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,180,979 (GRCm39) T1152A possibly damaging Het
Adgra3 T C 5: 50,118,659 (GRCm39) D963G probably benign Het
Adrm1 T A 2: 179,817,395 (GRCm39) D287E probably damaging Het
Agxt A G 1: 93,072,831 (GRCm39) D396G probably damaging Het
Ankle1 C T 8: 71,858,896 (GRCm39) A43V probably damaging Het
Apc A G 18: 34,448,281 (GRCm39) I1692V probably damaging Het
Arhgef18 T C 8: 3,500,802 (GRCm39) V588A probably benign Het
Ccdc62 T A 5: 124,072,247 (GRCm39) V4E probably benign Het
Cdh16 A T 8: 105,343,561 (GRCm39) probably benign Het
Cr2 A T 1: 194,848,696 (GRCm39) C276S probably damaging Het
Cyp2c29 T A 19: 39,275,567 (GRCm39) D2E probably damaging Het
Ddx31 T A 2: 28,749,035 (GRCm39) V277E possibly damaging Het
Defa35 C T 8: 21,555,930 (GRCm39) probably benign Het
Dhx9 A T 1: 153,340,376 (GRCm39) D707E probably benign Het
Dnmt1 A G 9: 20,852,669 (GRCm39) S28P probably benign Het
Dock5 A T 14: 67,994,667 (GRCm39) probably benign Het
Dpp6 T C 5: 27,928,365 (GRCm39) probably benign Het
Egln1 A G 8: 125,640,754 (GRCm39) probably null Het
Esr1 T A 10: 4,733,872 (GRCm39) M224K probably damaging Het
Flt1 A G 5: 147,615,109 (GRCm39) I279T possibly damaging Het
Fzd6 T C 15: 38,897,285 (GRCm39) I478T probably benign Het
Glb1l3 A G 9: 26,738,055 (GRCm39) V368A probably benign Het
Gltpd2 T C 11: 70,410,637 (GRCm39) F5S probably damaging Het
Helz G A 11: 107,577,264 (GRCm39) E1872K unknown Het
Irak3 A G 10: 120,018,429 (GRCm39) probably null Het
Itsn2 A T 12: 4,747,216 (GRCm39) I1206F probably damaging Het
Lingo3 A T 10: 80,670,988 (GRCm39) V314E probably benign Het
Lrrc8a C T 2: 30,145,698 (GRCm39) R171W probably damaging Het
Lsg1 T C 16: 30,390,024 (GRCm39) T364A probably benign Het
Mks1 T C 11: 87,753,478 (GRCm39) probably null Het
Mov10l1 T A 15: 88,872,729 (GRCm39) F89Y probably damaging Het
Myo1h T C 5: 114,497,000 (GRCm39) Y819H probably damaging Het
Nedd1 G A 10: 92,525,519 (GRCm39) Q597* probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or5an9 A G 19: 12,187,046 (GRCm39) T39A probably benign Het
Pbrm1 T C 14: 30,789,761 (GRCm39) S792P probably damaging Het
Pccb T C 9: 100,866,449 (GRCm39) N457S probably benign Het
Plekho2 T C 9: 65,465,902 (GRCm39) E162G possibly damaging Het
Pou1f1 A T 16: 65,320,430 (GRCm39) T40S probably benign Het
Pwwp2b T C 7: 138,836,059 (GRCm39) V500A probably damaging Het
Pygo1 C T 9: 72,852,020 (GRCm39) A69V probably damaging Het
Slc18a3 A C 14: 32,185,772 (GRCm39) Y204D probably damaging Het
Stab2 A G 10: 86,707,785 (GRCm39) V261A possibly damaging Het
Tacc2 A T 7: 130,330,671 (GRCm39) K208N probably damaging Het
Tbc1d4 T C 14: 101,738,536 (GRCm39) D403G probably damaging Het
Tbc1d9 T A 8: 83,995,696 (GRCm39) probably benign Het
Tdrkh T C 3: 94,336,657 (GRCm39) probably benign Het
Tktl2 T A 8: 66,964,982 (GRCm39) L180H probably damaging Het
Tm4sf19 T A 16: 32,224,733 (GRCm39) L27Q probably damaging Het
Tmtc2 A G 10: 105,249,157 (GRCm39) V192A probably damaging Het
Ttn C A 2: 76,543,328 (GRCm39) M33219I probably damaging Het
Vmn1r52 A T 6: 90,156,295 (GRCm39) M200L possibly damaging Het
Vmn2r114 T A 17: 23,510,263 (GRCm39) H739L probably benign Het
Wdr20rt T C 12: 65,272,692 (GRCm39) F52L probably benign Het
Zbtb38 C T 9: 96,569,227 (GRCm39) G619D probably benign Het
Zfyve19 T C 2: 119,041,999 (GRCm39) V156A 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
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
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 2015-12-18