Incidental Mutation 'R1616:Myo1b'
ID 174215
Institutional Source Beutler Lab
Gene Symbol Myo1b
Ensembl Gene ENSMUSG00000018417
Gene Name myosin IB
Synonyms
MMRRC Submission 039653-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.691) question?
Stock # R1616 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 51788917-51955143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51815474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 624 (N624S)
Ref Sequence ENSEMBL: ENSMUSP00000040447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018561] [ENSMUST00000046390] [ENSMUST00000114537] [ENSMUST00000114541]
AlphaFold P46735
Predicted Effect probably damaging
Transcript: ENSMUST00000018561
AA Change: N624S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: N624S

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: N624S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: N624S

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 possibly damaging
Transcript: ENSMUST00000114537
AA Change: N624S

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: N624S

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 possibly damaging
Transcript: ENSMUST00000114541
AA Change: N630S

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: N630S

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: 98.8%
  • 3x: 97.8%
  • 10x: 94.3%
  • 20x: 85.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406P04Rik T C 10: 20,187,087 (GRCm39) probably benign Het
A1cf A G 19: 31,912,175 (GRCm39) E430G probably damaging Het
Aacs T A 5: 125,561,590 (GRCm39) probably null Het
Acot12 G A 13: 91,920,886 (GRCm39) V331I probably benign Het
Acp7 A G 7: 28,310,503 (GRCm39) W445R probably damaging Het
Actl11 C A 9: 107,809,135 (GRCm39) Q1153K probably benign Het
Actr8 A G 14: 29,704,601 (GRCm39) T34A possibly damaging Het
Ahnak A G 19: 8,986,351 (GRCm39) D2545G possibly damaging Het
Ap5z1 A G 5: 142,457,991 (GRCm39) Y388C probably benign Het
Apol7a C T 15: 77,273,806 (GRCm39) G219S probably damaging Het
Arid1b T A 17: 5,389,569 (GRCm39) I1705N probably damaging Het
Bod1l T C 5: 41,966,058 (GRCm39) Q2669R probably benign Het
Braf A T 6: 39,620,067 (GRCm39) S504T probably benign Het
Cbl A T 9: 44,064,197 (GRCm39) Y780N probably damaging Het
Cd86 T C 16: 36,449,338 (GRCm39) I20V probably benign Het
Cep290 T G 10: 100,404,698 (GRCm39) D2353E probably benign Het
Ckmt2 G A 13: 92,007,328 (GRCm39) R289C probably benign Het
Col3a1 T C 1: 45,367,648 (GRCm39) probably null Het
Cyp4f16 T A 17: 32,761,942 (GRCm39) Y163* probably null Het
Dimt1 T C 13: 107,089,958 (GRCm39) V227A possibly damaging Het
Dnah6 A T 6: 73,077,095 (GRCm39) M2338K probably benign Het
Dock4 T G 12: 40,719,044 (GRCm39) I274S probably damaging Het
Enthd1 T C 15: 80,336,586 (GRCm39) D616G probably damaging Het
Fignl2 T C 15: 100,951,997 (GRCm39) E95G probably damaging Het
Foxn1 A G 11: 78,249,692 (GRCm39) M611T probably benign Het
Foxs1 T C 2: 152,774,559 (GRCm39) S165G probably benign Het
Fzd3 G T 14: 65,472,956 (GRCm39) Q271K probably benign Het
Hadhb A T 5: 30,371,713 (GRCm39) I55F probably damaging Het
Hipk3 G A 2: 104,264,090 (GRCm39) Q824* probably null Het
Hps1 G A 19: 42,755,624 (GRCm39) R201W probably damaging Het
Kif21b T C 1: 136,099,423 (GRCm39) S1477P probably damaging Het
Kif26a A T 12: 112,123,680 (GRCm39) probably null Het
Krt90 T C 15: 101,469,026 (GRCm39) E172G possibly damaging Het
Lama4 T G 10: 38,951,446 (GRCm39) F1064V probably damaging Het
Leng9 A G 7: 4,151,902 (GRCm39) V258A probably benign Het
Lgi2 A C 5: 52,703,980 (GRCm39) V217G probably benign Het
Lpgat1 T C 1: 191,495,741 (GRCm39) I310T possibly damaging Het
Ltbp3 A G 19: 5,796,995 (GRCm39) Y374C probably damaging Het
Magi2 C A 5: 20,814,324 (GRCm39) T1075K probably damaging Het
Man2c1 T C 9: 57,042,793 (GRCm39) I221T probably benign Het
Mydgf A G 17: 56,486,415 (GRCm39) M72T possibly damaging Het
Myo5c T A 9: 75,203,299 (GRCm39) M1465K probably damaging Het
Nek4 A T 14: 30,709,094 (GRCm39) D716V probably damaging Het
Nfxl1 T A 5: 72,686,380 (GRCm39) Q607L probably benign Het
Nlrp9c A T 7: 26,083,862 (GRCm39) D572E probably benign Het
Nop14 G T 5: 34,807,757 (GRCm39) Q402K possibly damaging Het
Npy5r C G 8: 67,134,052 (GRCm39) C247S probably damaging Het
Nrap T A 19: 56,378,255 (GRCm39) I19F probably damaging Het
Or4c102 A G 2: 88,422,352 (GRCm39) D68G probably damaging Het
Or51t4 T A 7: 102,597,721 (GRCm39) N16K probably damaging Het
Or6z3 T G 7: 6,463,744 (GRCm39) S79A probably damaging Het
Pcdh9 A T 14: 94,124,405 (GRCm39) Y588* probably null Het
Ppp1r12a A G 10: 108,096,728 (GRCm39) E183G probably damaging Het
Ppp2r2b T A 18: 42,821,375 (GRCm39) H261L probably benign Het
Ptch1 G T 13: 63,687,656 (GRCm39) T374K possibly damaging Het
Ptpn13 A T 5: 103,713,103 (GRCm39) N1742I possibly damaging Het
Rab33a C T X: 47,608,521 (GRCm39) S15L probably benign Het
Ralb T C 1: 119,405,744 (GRCm39) Y75C probably damaging Het
Rassf7 T A 7: 140,796,645 (GRCm39) V2D probably damaging Het
Rbm10 A G X: 20,512,230 (GRCm39) N397S probably benign Het
Rbm15 T C 3: 107,238,197 (GRCm39) T734A probably benign Het
Rbm8a G T 3: 96,539,046 (GRCm39) probably benign Het
Rock2 T C 12: 17,022,986 (GRCm39) I1095T probably benign Het
Rxfp3 T A 15: 11,036,389 (GRCm39) T328S probably damaging Het
Sec31a T A 5: 100,534,054 (GRCm39) K505N possibly damaging Het
Selenof A G 3: 144,302,642 (GRCm39) *122W probably null Het
Sh3pxd2b T C 11: 32,331,441 (GRCm39) M55T possibly damaging Het
Slc15a2 T C 16: 36,574,843 (GRCm39) D522G probably benign Het
Slc2a1 T C 4: 118,993,503 (GRCm39) F447L probably damaging Het
Slc45a2 T A 15: 11,022,214 (GRCm39) C319S probably null Het
Smad4 T C 18: 73,773,333 (GRCm39) D551G probably benign Het
Smarcc2 A G 10: 128,318,662 (GRCm39) Y648C probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Stab2 A T 10: 86,721,582 (GRCm39) probably null Het
Tanc1 A G 2: 59,615,731 (GRCm39) D246G probably damaging Het
Tekt3 T G 11: 62,978,024 (GRCm39) probably null Het
Them5 G A 3: 94,253,567 (GRCm39) probably null Het
Tlr4 T A 4: 66,757,717 (GRCm39) F170Y probably damaging Het
Tmem214 T G 5: 31,028,907 (GRCm39) Y165* probably null Het
Tmem94 T C 11: 115,686,971 (GRCm39) probably null Het
Tom1l1 A G 11: 90,547,177 (GRCm39) L301S possibly damaging Het
Trpm3 A G 19: 22,960,076 (GRCm39) E1237G probably damaging Het
Ube2d1 C A 10: 71,092,523 (GRCm39) C107F probably damaging Het
Ugt3a1 C T 15: 9,306,330 (GRCm39) R160* probably null Het
Vcan G A 13: 89,853,782 (GRCm39) P393S probably damaging Het
Virma T C 4: 11,544,954 (GRCm39) F1638L probably damaging Het
Vmn1r31 G A 6: 58,449,043 (GRCm39) T274I probably damaging Het
Xylt2 C T 11: 94,559,035 (GRCm39) S445N probably damaging Het
Zfp457 A G 13: 67,444,375 (GRCm39) F43L possibly damaging Het
Zfp879 T A 11: 50,723,473 (GRCm39) M455L 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
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
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 PCR Primer
(F):5'- AAGCCTACTGAAGGACTGAGGCAC -3'
(R):5'- ATCACTGGGTAAGATTCGTTGGCAG -3'

Sequencing Primer
(F):5'- CATTCAAGTTCCAAGTGCGG -3'
(R):5'- TCGTTGGCAGAGTTTAAAACC -3'
Posted On 2014-04-24