Incidental Mutation 'R9622:Myo5b'
ID 724912
Institutional Source Beutler Lab
Gene Symbol Myo5b
Ensembl Gene ENSMUSG00000025885
Gene Name myosin VB
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.734) question?
Stock # R9622 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 74575435-74905769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74848017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1085 (N1085S)
Ref Sequence ENSEMBL: ENSMUSP00000073790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074157] [ENSMUST00000121875]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074157
AA Change: N1085S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: N1085S

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 damaging
Transcript: ENSMUST00000121875
AA Change: N1085S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: N1085S

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
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A G 5: 36,006,889 (GRCm39) K435E probably damaging Het
Acly T C 11: 100,395,785 (GRCm39) T412A probably damaging Het
Aldh3b2 T A 19: 4,029,489 (GRCm39) D287E probably benign Het
Asphd1 G A 7: 126,547,974 (GRCm39) P110S Het
Atg7 T C 6: 114,654,993 (GRCm39) L142P probably benign Het
Atp13a4 T C 16: 29,239,277 (GRCm39) I796V Het
Bbx A G 16: 50,095,022 (GRCm39) V98A probably damaging Het
Brca2 T C 5: 150,480,410 (GRCm39) S2727P probably damaging Het
Camk1 T A 6: 113,318,850 (GRCm39) D21V possibly damaging Het
Cdc5l A T 17: 45,715,709 (GRCm39) D634E probably benign Het
Cfap418 T C 4: 10,893,304 (GRCm39) I141T possibly damaging Het
Cyfip1 A T 7: 55,528,853 (GRCm39) D275V possibly damaging Het
Cyp4a30b A G 4: 115,328,162 (GRCm39) E477G probably damaging Het
Cyp4f16 C T 17: 32,769,246 (GRCm39) P379S probably damaging Het
Dchs2 C T 3: 83,263,766 (GRCm39) Q3345* probably null Het
Dnaaf1 A G 8: 120,315,001 (GRCm39) T270A possibly damaging Het
Dnah3 A G 7: 119,561,356 (GRCm39) V334A Het
Dnhd1 T C 7: 105,353,342 (GRCm39) F2832L probably benign Het
Dock8 A G 19: 25,098,545 (GRCm39) N623S probably null Het
Eif4enif1 T C 11: 3,165,714 (GRCm39) I97T probably benign Het
Elmo1 C G 13: 20,392,310 (GRCm39) P29A probably benign Het
Erich6 G C 3: 58,544,162 (GRCm39) P142A possibly damaging Het
Fam135b T C 15: 71,397,686 (GRCm39) R125G probably damaging Het
Fcrla T A 1: 170,749,808 (GRCm39) H83L probably damaging Het
Flt3 C T 5: 147,303,841 (GRCm39) E366K possibly damaging Het
Gabbr2 C T 4: 46,724,283 (GRCm39) probably null Het
Gigyf1 T A 5: 137,522,926 (GRCm39) L809* probably null Het
Glg1 C T 8: 111,899,133 (GRCm39) G711R probably damaging Het
Gp1bb T C 16: 18,439,527 (GRCm39) E189G probably benign Het
H2-Q1 A T 17: 35,542,532 (GRCm39) I326F probably benign Het
Hoxb3 A T 11: 96,235,420 (GRCm39) K116* probably null Het
Kcnb1 T C 2: 167,030,161 (GRCm39) Y128C probably damaging Het
Kif5b G A 18: 6,225,672 (GRCm39) R171C probably damaging Het
Lcn4 G A 2: 26,561,228 (GRCm39) Q18* probably null Het
Lrp1b G A 2: 40,779,354 (GRCm39) Q2677* probably null Het
Map4k3 T A 17: 80,958,538 (GRCm39) T145S probably damaging Het
Mas1 T C 17: 13,060,898 (GRCm39) E175G probably benign Het
Metap2 T C 10: 93,707,366 (GRCm39) T202A probably benign Het
Mras A T 9: 99,275,054 (GRCm39) M131K probably benign Het
Mtor T C 4: 148,568,169 (GRCm39) V1092A probably damaging Het
Mug2 T C 6: 122,028,751 (GRCm39) S582P probably benign Het
Nav3 T C 10: 109,603,103 (GRCm39) T1149A probably benign Het
Nipbl A T 15: 8,366,373 (GRCm39) S1239T probably benign Het
Nkpd1 C A 7: 19,257,867 (GRCm39) R549S probably benign Het
Or10a3m T A 7: 108,312,677 (GRCm39) M39K probably benign Het
Or10p1 G A 10: 129,444,084 (GRCm39) H89Y probably benign Het
Or1j1 A G 2: 36,702,621 (GRCm39) L161P probably damaging Het
Or51i2 T A 7: 103,689,522 (GRCm39) V173D probably damaging Het
Pcdh18 T C 3: 49,711,229 (GRCm39) N29D probably benign Het
Pdzrn4 T C 15: 92,294,949 (GRCm39) W52R probably benign Het
Plekhb1 T C 7: 100,304,588 (GRCm39) K39E probably damaging Het
Pramel28 A G 4: 143,692,348 (GRCm39) S218P probably benign Het
Psmb4 C A 3: 94,792,285 (GRCm39) E212D probably benign Het
Rcc1l A G 5: 134,205,348 (GRCm39) L69P probably damaging Het
Robo2 T C 16: 73,729,952 (GRCm39) R1082G probably benign Het
Rorb T C 19: 18,955,115 (GRCm39) Y167C probably damaging Het
Sanbr T A 11: 23,534,590 (GRCm39) K589I probably damaging Het
Sbsn GGAAATATGGCAGACAAGTTTGGTCAGGGGGCCCACCATGCTTTTGGTCAGGGCAG GG 7: 30,452,067 (GRCm39) probably benign Het
Scaf8 T A 17: 3,248,170 (GRCm39) F1164L probably benign Het
Scn10a A T 9: 119,438,046 (GRCm39) M1940K probably benign Het
Serpinb2 A G 1: 107,452,298 (GRCm39) N292S probably benign Het
Sparcl1 C A 5: 104,234,998 (GRCm39) V506L possibly damaging Het
Stt3a A G 9: 36,661,025 (GRCm39) V262A possibly damaging Het
Syt17 C A 7: 118,036,191 (GRCm39) M58I probably benign Het
Tas2r134 A C 2: 51,518,358 (GRCm39) N279T possibly damaging Het
Tbc1d2 T C 4: 46,609,065 (GRCm39) E724G probably damaging Het
Teddm1b T A 1: 153,750,620 (GRCm39) L143Q Het
Tlk1 T A 2: 70,617,281 (GRCm39) R66S probably damaging Het
Tmem139 A T 6: 42,240,176 (GRCm39) probably null Het
Tom1l2 T C 11: 60,151,942 (GRCm39) Y155C possibly damaging Het
Trmt1l C A 1: 151,304,710 (GRCm39) S28* probably null Het
Ttf2 T C 3: 100,859,918 (GRCm39) I679V probably benign Het
Unc13b T G 4: 43,172,513 (GRCm39) F1114V Het
Vmn2r25 T A 6: 123,816,579 (GRCm39) D334V probably damaging Het
Vps13c T G 9: 67,856,715 (GRCm39) Y2581D probably damaging Het
Xkr5 A G 8: 18,984,247 (GRCm39) S432P probably benign Het
Zc2hc1b G A 10: 13,043,677 (GRCm39) P73S possibly damaging Het
Zfhx2 A C 14: 55,303,483 (GRCm39) F1500L probably benign Het
Zfp3 T G 11: 70,662,739 (GRCm39) S233A possibly damaging Het
Zmat5 T C 11: 4,687,453 (GRCm39) W169R 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
R4786:Myo5b UTSW 18 74,828,451 (GRCm39) missense probably benign 0.01
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
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'- GCATGTGCAATTGAGGATTCCC -3'
(R):5'- AGCACCCTCAGAACTGATCG -3'

Sequencing Primer
(F):5'- AGGATTCCCCTCAGATGCTG -3'
(R):5'- GGCAGCTTCCTAACCAGAGTTC -3'
Posted On 2022-09-12