Incidental Mutation 'R4786:Myo5b'
ID 367142
Institutional Source Beutler Lab
Gene Symbol Myo5b
Ensembl Gene ENSMUSG00000025885
Gene Name myosin VB
Synonyms
MMRRC Submission 041995-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.734) question?
Stock # R4786 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 74575435-74905769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 74828451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 701 (Y701S)
Ref Sequence ENSEMBL: ENSMUSP00000112728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074157] [ENSMUST00000121875]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000074157
AA Change: Y701S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: Y701S

DomainStartEndE-ValueType
MYSc 63 763 N/A SMART
IQ 764 786 2.41e-4 SMART
IQ 787 809 7.7e-3 SMART
IQ 812 834 2.18e-2 SMART
IQ 835 857 1.72e0 SMART
IQ 860 882 7.52e-6 SMART
IQ 883 905 4.12e-3 SMART
low complexity region 1053 1065 N/A INTRINSIC
coiled coil region 1140 1261 N/A INTRINSIC
coiled coil region 1311 1415 N/A INTRINSIC
DIL 1650 1755 7.48e-51 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121875
AA Change: Y701S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: Y701S

DomainStartEndE-ValueType
MYSc 63 763 N/A SMART
IQ 764 786 2.41e-4 SMART
IQ 787 809 7.7e-3 SMART
IQ 812 834 2.18e-2 SMART
IQ 835 857 1.72e0 SMART
IQ 860 882 7.52e-6 SMART
IQ 883 905 4.12e-3 SMART
low complexity region 1053 1065 N/A INTRINSIC
coiled coil region 1140 1261 N/A INTRINSIC
coiled coil region 1332 1441 N/A INTRINSIC
DIL 1676 1781 7.48e-51 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice show perinatal mortality, diarrhea, intestinal microvillus atrophy and the presence of microvillus inclusion bodies, resembling phenotype of Microvillus Inclusion Disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,106,321 (GRCm39) I134N possibly damaging Het
Acvr1c T C 2: 58,170,366 (GRCm39) Y414C probably damaging Het
Adam32 A C 8: 25,353,509 (GRCm39) S693R probably damaging Het
Aldh2 A T 5: 121,710,887 (GRCm39) F314Y probably benign Het
Anks1 A G 17: 28,271,704 (GRCm39) D874G possibly damaging Het
Ap4b1 T A 3: 103,726,120 (GRCm39) V372E probably benign Het
Aqp12 G A 1: 92,934,177 (GRCm39) C18Y probably damaging Het
Arap1 T A 7: 101,034,212 (GRCm39) I218N possibly damaging Het
Arhgap42 C A 9: 9,238,703 (GRCm39) E28* probably null Het
Asb5 G A 8: 55,038,874 (GRCm39) E247K probably benign Het
Atg9b T C 5: 24,591,087 (GRCm39) D781G possibly damaging Het
Atxn10 A G 15: 85,271,344 (GRCm39) H294R probably benign Het
Bod1l G T 5: 41,976,781 (GRCm39) T1511K probably benign Het
Btnl2 A T 17: 34,582,322 (GRCm39) N296I probably damaging Het
Camta1 A T 4: 151,374,496 (GRCm39) L168H probably damaging Het
Cant1 A T 11: 118,299,665 (GRCm39) V265E possibly damaging Het
Ccdc157 T C 11: 4,101,861 (GRCm39) D20G probably damaging Het
Cd209c T G 8: 3,995,698 (GRCm39) T35P possibly damaging Het
Cdc20b G A 13: 113,215,268 (GRCm39) V279M probably damaging Het
Cdh18 T A 15: 23,410,873 (GRCm39) W453R probably null Het
Cdh24 A G 14: 54,875,007 (GRCm39) S333P possibly damaging Het
Ceacam11 T C 7: 17,706,239 (GRCm39) probably null Het
Ciz1 C T 2: 32,267,539 (GRCm39) P150L probably damaging Het
Crip3 C A 17: 46,741,968 (GRCm39) Q152K possibly damaging Het
Dars2 G A 1: 160,888,330 (GRCm39) R197W probably damaging Het
Dctn4 A G 18: 60,688,267 (GRCm39) D394G probably damaging Het
Dido1 T C 2: 180,312,664 (GRCm39) Y1077C possibly damaging Het
Dnhd1 A G 7: 105,323,651 (GRCm39) T641A probably benign Het
Egln3 A T 12: 54,232,367 (GRCm39) I146N probably damaging Het
Eif2ak3 C T 6: 70,869,602 (GRCm39) T763M possibly damaging Het
Etfbkmt A T 6: 149,048,744 (GRCm39) M1L probably benign Het
Fam171a1 A T 2: 3,226,615 (GRCm39) I583F probably damaging Het
Fbxo38 A C 18: 62,662,745 (GRCm39) L249W probably damaging Het
Fxyd5 T C 7: 30,740,907 (GRCm39) probably benign Het
Gabrr3 C A 16: 59,250,463 (GRCm39) T154K probably benign Het
Gm7233 C A 14: 43,038,347 (GRCm39) D90E probably benign Het
Gm8186 A G 17: 26,318,014 (GRCm39) V61A probably benign Het
Gnao1 A G 8: 94,670,931 (GRCm39) I137V probably benign Het
Gnptab A G 10: 88,272,044 (GRCm39) M945V probably damaging Het
Gpsm1 G A 2: 26,212,493 (GRCm39) A78T probably benign Het
Gtf2b T C 3: 142,487,230 (GRCm39) L222P probably damaging Het
Hnrnpf A G 6: 117,900,857 (GRCm39) Y47C probably damaging Het
Itga6 A G 2: 71,669,034 (GRCm39) N608S possibly damaging Het
Kdm2b T C 5: 123,018,917 (GRCm39) probably null Het
Krit1 T A 5: 3,862,467 (GRCm39) H207Q possibly damaging Het
Ky A G 9: 102,419,186 (GRCm39) N398D probably benign Het
Lama1 T A 17: 68,080,854 (GRCm39) V1294E possibly damaging Het
Lef1 C T 3: 130,905,173 (GRCm39) T18I probably damaging Het
Lrp2 T C 2: 69,368,300 (GRCm39) N178S probably damaging Het
Lrrc36 A G 8: 106,181,910 (GRCm39) T525A probably benign Het
Map3k8 A T 18: 4,340,647 (GRCm39) C222* probably null Het
Mapre2 G C 18: 24,011,016 (GRCm39) S199T probably benign Het
Mcm3ap A G 10: 76,324,300 (GRCm39) N911S probably benign Het
Mroh4 G T 15: 74,482,083 (GRCm39) H722Q probably benign Het
Muc21 A T 17: 35,930,221 (GRCm39) probably benign Het
Myt1l G T 12: 29,861,457 (GRCm39) V80L unknown Het
Ncoa7 C A 10: 30,531,638 (GRCm39) V24L probably benign Het
Nlrp10 A T 7: 108,524,445 (GRCm39) V345D probably damaging Het
Nmral1 C A 16: 4,534,288 (GRCm39) G51V probably damaging Het
Npc1 A G 18: 12,332,554 (GRCm39) I797T probably benign Het
Or4x6 A T 2: 89,949,351 (GRCm39) I197N possibly damaging Het
Or8g22 T A 9: 38,958,783 (GRCm39) R22* probably null Het
Or8g34 A T 9: 39,373,137 (GRCm39) I134L probably benign Het
Pclo A T 5: 14,773,281 (GRCm39) I4419F unknown Het
Phf3 C A 1: 30,855,638 (GRCm39) E983* probably null Het
Pitpnm2 A T 5: 124,259,806 (GRCm39) Y1149* probably null Het
Sdc3 A T 4: 130,550,079 (GRCm39) T430S probably damaging Het
Sema3f A G 9: 107,559,881 (GRCm39) V671A probably benign Het
Sigirr T G 7: 140,671,346 (GRCm39) S379R probably benign Het
Slc25a23 T A 17: 57,354,326 (GRCm39) N360I possibly damaging Het
Slco6c1 A T 1: 97,015,720 (GRCm39) M357K probably benign Het
Sox14 C A 9: 99,757,018 (GRCm39) M240I probably benign Het
Stradb A T 1: 59,030,367 (GRCm39) probably benign Het
Szt2 A T 4: 118,256,259 (GRCm39) M200K probably benign Het
Tef T C 15: 81,699,453 (GRCm39) S85P probably benign Het
Thada T A 17: 84,766,283 (GRCm39) H41L possibly damaging Het
Tinagl1 A G 4: 130,067,724 (GRCm39) F90S probably benign Het
Tnfaip1 G A 11: 78,421,045 (GRCm39) T5I possibly damaging Het
Tnfrsf23 A T 7: 143,233,801 (GRCm39) V59D probably damaging Het
Tnpo3 A G 6: 29,578,541 (GRCm39) V311A probably benign Het
Trak1 T A 9: 121,301,560 (GRCm39) M772K probably benign Het
Ubash3a A G 17: 31,436,938 (GRCm39) D185G probably benign Het
Vmn2r120 T C 17: 57,829,048 (GRCm39) T516A probably benign Het
Wdr4 A C 17: 31,728,785 (GRCm39) L130R probably damaging Het
Zfp12 T C 5: 143,231,257 (GRCm39) I528T probably damaging Het
Zfp607a T C 7: 27,578,838 (GRCm39) L636P probably damaging Het
Other mutations in Myo5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00798:Myo5b APN 18 74,787,147 (GRCm39) splice site probably benign
IGL01083:Myo5b APN 18 74,866,974 (GRCm39) splice site probably benign
IGL01448:Myo5b APN 18 74,777,161 (GRCm39) missense probably damaging 0.97
IGL01516:Myo5b APN 18 74,760,266 (GRCm39) missense probably damaging 0.99
IGL01525:Myo5b APN 18 74,873,620 (GRCm39) missense probably damaging 1.00
IGL01873:Myo5b APN 18 74,713,467 (GRCm39) missense probably damaging 1.00
IGL01887:Myo5b APN 18 74,848,007 (GRCm39) missense probably benign 0.41
IGL01953:Myo5b APN 18 74,702,838 (GRCm39) missense possibly damaging 0.62
IGL01976:Myo5b APN 18 74,831,348 (GRCm39) missense probably damaging 1.00
IGL02017:Myo5b APN 18 74,850,070 (GRCm39) missense probably damaging 1.00
IGL02331:Myo5b APN 18 74,771,111 (GRCm39) critical splice acceptor site probably null
IGL02624:Myo5b APN 18 74,848,010 (GRCm39) missense probably damaging 0.98
IGL02707:Myo5b APN 18 74,828,438 (GRCm39) splice site probably benign
IGL02806:Myo5b APN 18 74,750,151 (GRCm39) critical splice donor site probably null
IGL03009:Myo5b APN 18 74,894,039 (GRCm39) missense possibly damaging 0.54
IGL03061:Myo5b APN 18 74,713,615 (GRCm39) splice site probably benign
IGL03061:Myo5b APN 18 74,767,630 (GRCm39) missense probably benign 0.02
unrat UTSW 18 74,786,432 (GRCm39) missense possibly damaging 0.93
BB007:Myo5b UTSW 18 74,864,825 (GRCm39) missense probably benign
BB017:Myo5b UTSW 18 74,864,825 (GRCm39) missense probably benign
R0085:Myo5b UTSW 18 74,834,751 (GRCm39) missense probably benign 0.21
R0114:Myo5b UTSW 18 74,875,242 (GRCm39) missense probably benign 0.03
R0226:Myo5b UTSW 18 74,875,251 (GRCm39) missense probably benign
R0242:Myo5b UTSW 18 74,794,787 (GRCm39) missense possibly damaging 0.95
R0242:Myo5b UTSW 18 74,794,787 (GRCm39) missense possibly damaging 0.95
R0471:Myo5b UTSW 18 74,862,025 (GRCm39) splice site probably benign
R0494:Myo5b UTSW 18 74,787,038 (GRCm39) missense probably damaging 1.00
R0920:Myo5b UTSW 18 74,758,712 (GRCm39) missense probably benign 0.09
R1144:Myo5b UTSW 18 74,758,658 (GRCm39) missense probably damaging 1.00
R1177:Myo5b UTSW 18 74,777,143 (GRCm39) missense probably damaging 1.00
R1387:Myo5b UTSW 18 74,777,272 (GRCm39) splice site probably benign
R1468:Myo5b UTSW 18 74,873,574 (GRCm39) missense probably damaging 0.99
R1468:Myo5b UTSW 18 74,873,574 (GRCm39) missense probably damaging 0.99
R1555:Myo5b UTSW 18 74,702,853 (GRCm39) missense probably damaging 1.00
R1587:Myo5b UTSW 18 74,867,061 (GRCm39) missense probably benign
R1600:Myo5b UTSW 18 74,846,611 (GRCm39) unclassified probably benign
R1639:Myo5b UTSW 18 74,840,987 (GRCm39) missense probably benign 0.19
R1779:Myo5b UTSW 18 74,875,218 (GRCm39) missense probably benign 0.06
R1806:Myo5b UTSW 18 74,710,680 (GRCm39) missense possibly damaging 0.91
R1929:Myo5b UTSW 18 74,866,996 (GRCm39) missense probably damaging 0.99
R2046:Myo5b UTSW 18 74,710,526 (GRCm39) missense probably benign 0.28
R2093:Myo5b UTSW 18 74,892,263 (GRCm39) missense probably damaging 0.98
R2270:Myo5b UTSW 18 74,866,996 (GRCm39) missense probably damaging 0.99
R2272:Myo5b UTSW 18 74,866,996 (GRCm39) missense probably damaging 0.99
R2298:Myo5b UTSW 18 74,758,676 (GRCm39) missense probably damaging 1.00
R2433:Myo5b UTSW 18 74,892,158 (GRCm39) missense probably damaging 1.00
R2888:Myo5b UTSW 18 74,895,689 (GRCm39) missense probably damaging 1.00
R3824:Myo5b UTSW 18 74,794,726 (GRCm39) missense probably benign 0.41
R3937:Myo5b UTSW 18 74,849,108 (GRCm39) missense probably damaging 0.98
R3938:Myo5b UTSW 18 74,849,108 (GRCm39) missense probably damaging 0.98
R3947:Myo5b UTSW 18 74,828,474 (GRCm39) missense probably damaging 1.00
R3971:Myo5b UTSW 18 74,873,598 (GRCm39) missense probably damaging 1.00
R3972:Myo5b UTSW 18 74,873,598 (GRCm39) missense probably damaging 1.00
R3974:Myo5b UTSW 18 74,767,552 (GRCm39) missense probably damaging 1.00
R4027:Myo5b UTSW 18 74,892,311 (GRCm39) missense possibly damaging 0.67
R4080:Myo5b UTSW 18 74,873,559 (GRCm39) missense probably benign
R4285:Myo5b UTSW 18 74,847,920 (GRCm39) missense probably benign
R4308:Myo5b UTSW 18 74,864,811 (GRCm39) missense possibly damaging 0.89
R4411:Myo5b UTSW 18 74,831,345 (GRCm39) missense possibly damaging 0.89
R4415:Myo5b UTSW 18 74,713,479 (GRCm39) missense probably damaging 1.00
R4516:Myo5b UTSW 18 74,758,745 (GRCm39) missense probably damaging 1.00
R4690:Myo5b UTSW 18 74,855,533 (GRCm39) missense probably damaging 0.97
R4781:Myo5b UTSW 18 74,877,752 (GRCm39) missense possibly damaging 0.80
R4796:Myo5b UTSW 18 74,877,701 (GRCm39) missense possibly damaging 0.68
R4924:Myo5b UTSW 18 74,828,455 (GRCm39) missense probably benign 0.19
R4972:Myo5b UTSW 18 74,760,264 (GRCm39) missense probably damaging 0.98
R5004:Myo5b UTSW 18 74,877,844 (GRCm39) critical splice donor site probably null
R5024:Myo5b UTSW 18 74,849,105 (GRCm39) missense possibly damaging 0.90
R5043:Myo5b UTSW 18 74,771,224 (GRCm39) critical splice donor site probably null
R5187:Myo5b UTSW 18 74,834,745 (GRCm39) missense possibly damaging 0.68
R5232:Myo5b UTSW 18 74,848,003 (GRCm39) missense probably damaging 0.99
R5254:Myo5b UTSW 18 74,833,677 (GRCm39) missense possibly damaging 0.65
R5255:Myo5b UTSW 18 74,795,741 (GRCm39) missense possibly damaging 0.94
R5715:Myo5b UTSW 18 74,875,246 (GRCm39) missense possibly damaging 0.88
R5733:Myo5b UTSW 18 74,787,128 (GRCm39) missense possibly damaging 0.93
R5797:Myo5b UTSW 18 74,834,592 (GRCm39) missense probably benign
R5875:Myo5b UTSW 18 74,840,973 (GRCm39) splice site probably null
R6088:Myo5b UTSW 18 74,853,969 (GRCm39) missense possibly damaging 0.89
R6104:Myo5b UTSW 18 74,833,750 (GRCm39) missense probably benign 0.19
R6237:Myo5b UTSW 18 74,875,249 (GRCm39) missense probably damaging 1.00
R6265:Myo5b UTSW 18 74,710,511 (GRCm39) splice site probably null
R6267:Myo5b UTSW 18 74,750,062 (GRCm39) missense probably damaging 1.00
R6328:Myo5b UTSW 18 74,750,064 (GRCm39) missense probably damaging 1.00
R6330:Myo5b UTSW 18 74,750,064 (GRCm39) missense probably damaging 1.00
R6331:Myo5b UTSW 18 74,750,064 (GRCm39) missense probably damaging 1.00
R6347:Myo5b UTSW 18 74,903,456 (GRCm39) missense probably benign 0.11
R6479:Myo5b UTSW 18 74,750,086 (GRCm39) missense probably damaging 1.00
R6748:Myo5b UTSW 18 74,834,574 (GRCm39) missense possibly damaging 0.80
R6749:Myo5b UTSW 18 74,834,574 (GRCm39) missense possibly damaging 0.80
R6750:Myo5b UTSW 18 74,750,106 (GRCm39) missense possibly damaging 0.74
R6833:Myo5b UTSW 18 74,903,396 (GRCm39) missense probably benign
R6876:Myo5b UTSW 18 74,841,026 (GRCm39) missense probably benign
R6880:Myo5b UTSW 18 74,855,501 (GRCm39) missense probably benign 0.02
R6902:Myo5b UTSW 18 74,809,756 (GRCm39) missense possibly damaging 0.95
R6985:Myo5b UTSW 18 74,786,432 (GRCm39) missense possibly damaging 0.93
R7039:Myo5b UTSW 18 74,834,599 (GRCm39) missense probably benign 0.01
R7162:Myo5b UTSW 18 74,828,498 (GRCm39) missense probably benign 0.02
R7345:Myo5b UTSW 18 74,841,095 (GRCm39) missense possibly damaging 0.82
R7530:Myo5b UTSW 18 74,864,802 (GRCm39) missense probably benign 0.00
R7564:Myo5b UTSW 18 74,767,582 (GRCm39) missense possibly damaging 0.84
R7629:Myo5b UTSW 18 74,760,325 (GRCm39) critical splice donor site probably null
R7635:Myo5b UTSW 18 74,713,467 (GRCm39) missense probably damaging 1.00
R7670:Myo5b UTSW 18 74,834,517 (GRCm39) missense probably benign 0.05
R7754:Myo5b UTSW 18 74,767,630 (GRCm39) missense probably benign 0.02
R7930:Myo5b UTSW 18 74,864,825 (GRCm39) missense probably benign
R8013:Myo5b UTSW 18 74,893,970 (GRCm39) nonsense probably null
R8271:Myo5b UTSW 18 74,760,261 (GRCm39) missense probably damaging 1.00
R8312:Myo5b UTSW 18 74,867,033 (GRCm39) missense probably damaging 1.00
R8383:Myo5b UTSW 18 74,777,049 (GRCm39) missense probably benign 0.05
R8384:Myo5b UTSW 18 74,875,273 (GRCm39) missense probably damaging 1.00
R8474:Myo5b UTSW 18 74,903,411 (GRCm39) missense probably damaging 1.00
R8825:Myo5b UTSW 18 74,892,169 (GRCm39) missense possibly damaging 0.79
R8846:Myo5b UTSW 18 74,841,043 (GRCm39) missense probably benign 0.04
R9236:Myo5b UTSW 18 74,853,934 (GRCm39) missense probably benign
R9283:Myo5b UTSW 18 74,777,149 (GRCm39) missense probably benign 0.16
R9370:Myo5b UTSW 18 74,760,246 (GRCm39) missense possibly damaging 0.54
R9506:Myo5b UTSW 18 74,877,831 (GRCm39) missense possibly damaging 0.82
R9523:Myo5b UTSW 18 74,861,968 (GRCm39) missense possibly damaging 0.89
R9622:Myo5b UTSW 18 74,848,017 (GRCm39) missense probably damaging 0.99
R9676:Myo5b UTSW 18 74,892,231 (GRCm39) missense probably benign 0.22
R9725:Myo5b UTSW 18 74,856,841 (GRCm39) missense probably benign
RF009:Myo5b UTSW 18 74,777,070 (GRCm39) missense probably damaging 1.00
Z1088:Myo5b UTSW 18 74,877,820 (GRCm39) missense probably benign 0.35
Z1177:Myo5b UTSW 18 74,750,088 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- AACTTCAGGGATGCTGACACAC -3'
(R):5'- AGTCTCTGTTGTAGGAAATGGC -3'

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