Incidental Mutation 'R6267:Myo5b'
ID 507123
Institutional Source Beutler Lab
Gene Symbol Myo5b
Ensembl Gene ENSMUSG00000025885
Gene Name myosin VB
Synonyms
MMRRC Submission 044405-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.752) question?
Stock # R6267 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 74440936-74771493 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74616991 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 173 (Y173C)
Ref Sequence ENSEMBL: ENSMUSP00000123123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074157] [ENSMUST00000121875] [ENSMUST00000125882]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000074157
AA Change: Y175C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: Y175C

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 noncoding transcript
Transcript: ENSMUST00000120161
Predicted Effect probably damaging
Transcript: ENSMUST00000121875
AA Change: Y175C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: Y175C

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 probably damaging
Transcript: ENSMUST00000125882
AA Change: Y173C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123123
Gene: ENSMUSG00000025885
AA Change: Y173C

DomainStartEndE-ValueType
MYSc 61 183 8.63e-4 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik T C 13: 59,742,683 (GRCm38) D441G probably benign Het
4933427D14Rik T C 11: 72,195,754 (GRCm38) K277R probably damaging Het
Aatf T C 11: 84,473,100 (GRCm38) Y267C probably benign Het
Abi3bp A G 16: 56,594,497 (GRCm38) T341A probably damaging Het
Acer2 T C 4: 86,874,586 (GRCm38) F33S probably damaging Het
Actr1b A G 1: 36,701,163 (GRCm38) V299A possibly damaging Het
Ampd3 T A 7: 110,791,180 (GRCm38) probably null Het
Atm A C 9: 53,444,000 (GRCm38) I2898R probably damaging Het
Bpifb6 G C 2: 153,906,892 (GRCm38) K269N possibly damaging Het
Cacna1c T A 6: 118,652,714 (GRCm38) T1249S probably benign Het
Cacna1c T C 6: 118,598,723 (GRCm38) E1927G possibly damaging Het
Cars2 TCCCC TCCC 8: 11,529,599 (GRCm38) probably null Het
Cbll1 A G 12: 31,487,508 (GRCm38) V415A probably benign Het
Cd300lf C T 11: 115,124,369 (GRCm38) V132I probably benign Het
Chd2 T C 7: 73,463,671 (GRCm38) E1187G probably damaging Het
Cntrl T C 2: 35,129,793 (GRCm38) L544P probably damaging Het
Cryga A C 1: 65,103,010 (GRCm38) S75A probably benign Het
Dcbld1 T A 10: 52,319,480 (GRCm38) Y261* probably null Het
Ddx11 G A 17: 66,150,729 (GRCm38) probably null Het
Dgke C T 11: 89,040,749 (GRCm38) V560I probably benign Het
Dst A C 1: 34,228,672 (GRCm38) D5065A probably damaging Het
Dusp16 C A 6: 134,720,493 (GRCm38) probably null Het
Eif4enif1 T A 11: 3,227,793 (GRCm38) V395E probably damaging Het
Enox1 A G 14: 77,577,764 (GRCm38) T121A probably damaging Het
Enpp4 G T 17: 44,102,480 (GRCm38) N54K probably benign Het
Erc2 A T 14: 28,080,155 (GRCm38) K764M probably damaging Het
Ercc6 G T 14: 32,526,403 (GRCm38) E304* probably null Het
Fam117a T A 11: 95,364,145 (GRCm38) C115S possibly damaging Het
Fcrl5 G A 3: 87,448,324 (GRCm38) G448E probably damaging Het
Galntl5 T C 5: 25,186,165 (GRCm38) S21P probably benign Het
Garnl3 T C 2: 33,104,880 (GRCm38) D39G probably benign Het
Gm14295 C T 2: 176,808,989 (GRCm38) Q91* probably null Het
Grb10 T A 11: 11,970,639 (GRCm38) probably benign Het
Grip1 C T 10: 120,075,464 (GRCm38) Q696* probably null Het
Herc2 T G 7: 56,204,718 (GRCm38) L3797R possibly damaging Het
Herc2 T A 7: 56,153,166 (GRCm38) C2112* probably null Het
Ighm T C 12: 113,421,567 (GRCm38) I258V unknown Het
Jarid2 T A 13: 44,903,063 (GRCm38) Y443N possibly damaging Het
Kif13b A G 14: 64,738,634 (GRCm38) Y466C probably damaging Het
Krtap4-6 T A 11: 99,665,419 (GRCm38) R161* probably null Het
Lingo4 G A 3: 94,403,390 (GRCm38) G545E probably benign Het
Lmo2 T G 2: 103,970,601 (GRCm38) V39G possibly damaging Het
Lor C A 3: 92,081,812 (GRCm38) G56* probably null Het
Lrfn1 A G 7: 28,459,744 (GRCm38) R363G probably benign Het
Lrp1b T C 2: 40,657,525 (GRCm38) D446G probably benign Het
Ltbp1 G T 17: 75,005,989 (GRCm38) G35V possibly damaging Het
Magel2 G A 7: 62,378,679 (GRCm38) V444M probably damaging Het
Mkx A T 18: 7,000,591 (GRCm38) probably null Het
Ms4a7 A T 19: 11,333,295 (GRCm38) I20N possibly damaging Het
Nek1 C T 8: 61,072,309 (GRCm38) Q594* probably null Het
Nipbl T C 15: 8,300,895 (GRCm38) M2349V possibly damaging Het
Nmnat2 A T 1: 153,076,971 (GRCm38) H102L probably damaging Het
Nup155 T A 15: 8,153,155 (GRCm38) C1201S probably damaging Het
Olfr1249 G A 2: 89,630,631 (GRCm38) T89I probably damaging Het
Olfr1373 C A 11: 52,144,596 (GRCm38) R311S probably benign Het
Olfr686 G A 7: 105,203,392 (GRCm38) T317I probably damaging Het
Osbpl1a A G 18: 12,819,503 (GRCm38) probably null Het
Pcnt A G 10: 76,385,798 (GRCm38) V1998A probably benign Het
Pitpnc1 T C 11: 107,226,266 (GRCm38) H193R probably damaging Het
Pitpnm1 T C 19: 4,110,522 (GRCm38) L781P probably damaging Het
Prdm14 A T 1: 13,118,936 (GRCm38) C395S probably damaging Het
Prmt8 A G 6: 127,711,804 (GRCm38) I201T probably damaging Het
Pter T C 2: 12,978,541 (GRCm38) V119A probably damaging Het
Rab11fip4 T C 11: 79,690,829 (GRCm38) probably null Het
Rgs9 T C 11: 109,268,987 (GRCm38) N173S probably benign Het
Rorb C A 19: 18,977,857 (GRCm38) V47L possibly damaging Het
Rtn4r A G 16: 18,151,182 (GRCm38) Y158C probably damaging Het
Sdr16c5 C T 4: 4,016,162 (GRCm38) G88E probably damaging Het
Sfxn1 C T 13: 54,093,880 (GRCm38) T208I probably benign Het
Sgo2b C T 8: 63,927,793 (GRCm38) M668I probably benign Het
Slc52a3 G T 2: 152,007,609 (GRCm38) probably null Het
Smco1 A T 16: 32,274,014 (GRCm38) M168L probably benign Het
Spata31d1d G A 13: 59,728,464 (GRCm38) T419I possibly damaging Het
Spink5 T C 18: 44,014,757 (GRCm38) S857P probably damaging Het
Stk35 T A 2: 129,810,888 (GRCm38) Y436* probably null Het
Tmem225 T A 9: 40,148,435 (GRCm38) I37N probably damaging Het
Unkl T C 17: 25,231,865 (GRCm38) *232R probably null Het
Usp16 A G 16: 87,483,191 (GRCm38) N813S probably benign Het
Vmn1r128 A T 7: 21,350,296 (GRCm38) *308C probably null Het
Vmn2r45 A G 7: 8,472,208 (GRCm38) V607A probably benign Het
Vmn2r63 A T 7: 42,928,635 (GRCm38) probably null Het
Wnk4 A T 11: 101,273,998 (GRCm38) N718Y probably damaging Het
Zfp503 G C 14: 21,985,800 (GRCm38) Y349* probably null Het
Zfp990 T A 4: 145,538,103 (GRCm38) F557Y possibly damaging Het
Other mutations in Myo5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00798:Myo5b APN 18 74,654,076 (GRCm38) splice site probably benign
IGL01083:Myo5b APN 18 74,733,903 (GRCm38) splice site probably benign
IGL01448:Myo5b APN 18 74,644,090 (GRCm38) missense probably damaging 0.97
IGL01516:Myo5b APN 18 74,627,195 (GRCm38) missense probably damaging 0.99
IGL01525:Myo5b APN 18 74,740,549 (GRCm38) missense probably damaging 1.00
IGL01873:Myo5b APN 18 74,580,396 (GRCm38) missense probably damaging 1.00
IGL01887:Myo5b APN 18 74,714,936 (GRCm38) missense probably benign 0.41
IGL01953:Myo5b APN 18 74,569,767 (GRCm38) missense possibly damaging 0.62
IGL01976:Myo5b APN 18 74,698,277 (GRCm38) missense probably damaging 1.00
IGL02017:Myo5b APN 18 74,716,999 (GRCm38) missense probably damaging 1.00
IGL02331:Myo5b APN 18 74,638,040 (GRCm38) critical splice acceptor site probably null
IGL02624:Myo5b APN 18 74,714,939 (GRCm38) missense probably damaging 0.98
IGL02707:Myo5b APN 18 74,695,367 (GRCm38) splice site probably benign
IGL02806:Myo5b APN 18 74,617,080 (GRCm38) critical splice donor site probably null
IGL03009:Myo5b APN 18 74,760,968 (GRCm38) missense possibly damaging 0.54
IGL03061:Myo5b APN 18 74,580,544 (GRCm38) splice site probably benign
IGL03061:Myo5b APN 18 74,634,559 (GRCm38) missense probably benign 0.02
unrat UTSW 18 74,653,361 (GRCm38) missense possibly damaging 0.93
BB007:Myo5b UTSW 18 74,731,754 (GRCm38) missense probably benign
BB017:Myo5b UTSW 18 74,731,754 (GRCm38) missense probably benign
R0085:Myo5b UTSW 18 74,701,680 (GRCm38) missense probably benign 0.21
R0114:Myo5b UTSW 18 74,742,171 (GRCm38) missense probably benign 0.03
R0226:Myo5b UTSW 18 74,742,180 (GRCm38) missense probably benign
R0242:Myo5b UTSW 18 74,661,716 (GRCm38) missense possibly damaging 0.95
R0242:Myo5b UTSW 18 74,661,716 (GRCm38) missense possibly damaging 0.95
R0471:Myo5b UTSW 18 74,728,954 (GRCm38) splice site probably benign
R0494:Myo5b UTSW 18 74,653,967 (GRCm38) missense probably damaging 1.00
R0920:Myo5b UTSW 18 74,625,641 (GRCm38) missense probably benign 0.09
R1144:Myo5b UTSW 18 74,625,587 (GRCm38) missense probably damaging 1.00
R1177:Myo5b UTSW 18 74,644,072 (GRCm38) missense probably damaging 1.00
R1387:Myo5b UTSW 18 74,644,201 (GRCm38) splice site probably benign
R1468:Myo5b UTSW 18 74,740,503 (GRCm38) missense probably damaging 0.99
R1468:Myo5b UTSW 18 74,740,503 (GRCm38) missense probably damaging 0.99
R1555:Myo5b UTSW 18 74,569,782 (GRCm38) missense probably damaging 1.00
R1587:Myo5b UTSW 18 74,733,990 (GRCm38) missense probably benign
R1600:Myo5b UTSW 18 74,713,540 (GRCm38) unclassified probably benign
R1639:Myo5b UTSW 18 74,707,916 (GRCm38) missense probably benign 0.19
R1779:Myo5b UTSW 18 74,742,147 (GRCm38) missense probably benign 0.06
R1806:Myo5b UTSW 18 74,577,609 (GRCm38) missense possibly damaging 0.91
R1929:Myo5b UTSW 18 74,733,925 (GRCm38) missense probably damaging 0.99
R2046:Myo5b UTSW 18 74,577,455 (GRCm38) missense probably benign 0.28
R2093:Myo5b UTSW 18 74,759,192 (GRCm38) missense probably damaging 0.98
R2270:Myo5b UTSW 18 74,733,925 (GRCm38) missense probably damaging 0.99
R2272:Myo5b UTSW 18 74,733,925 (GRCm38) missense probably damaging 0.99
R2298:Myo5b UTSW 18 74,625,605 (GRCm38) missense probably damaging 1.00
R2433:Myo5b UTSW 18 74,759,087 (GRCm38) missense probably damaging 1.00
R2888:Myo5b UTSW 18 74,762,618 (GRCm38) missense probably damaging 1.00
R3824:Myo5b UTSW 18 74,661,655 (GRCm38) missense probably benign 0.41
R3937:Myo5b UTSW 18 74,716,037 (GRCm38) missense probably damaging 0.98
R3938:Myo5b UTSW 18 74,716,037 (GRCm38) missense probably damaging 0.98
R3947:Myo5b UTSW 18 74,695,403 (GRCm38) missense probably damaging 1.00
R3971:Myo5b UTSW 18 74,740,527 (GRCm38) missense probably damaging 1.00
R3972:Myo5b UTSW 18 74,740,527 (GRCm38) missense probably damaging 1.00
R3974:Myo5b UTSW 18 74,634,481 (GRCm38) missense probably damaging 1.00
R4027:Myo5b UTSW 18 74,759,240 (GRCm38) missense possibly damaging 0.67
R4080:Myo5b UTSW 18 74,740,488 (GRCm38) missense probably benign
R4285:Myo5b UTSW 18 74,714,849 (GRCm38) missense probably benign
R4308:Myo5b UTSW 18 74,731,740 (GRCm38) missense possibly damaging 0.89
R4411:Myo5b UTSW 18 74,698,274 (GRCm38) missense possibly damaging 0.89
R4415:Myo5b UTSW 18 74,580,408 (GRCm38) missense probably damaging 1.00
R4516:Myo5b UTSW 18 74,625,674 (GRCm38) missense probably damaging 1.00
R4690:Myo5b UTSW 18 74,722,462 (GRCm38) missense probably damaging 0.97
R4781:Myo5b UTSW 18 74,744,681 (GRCm38) missense possibly damaging 0.80
R4786:Myo5b UTSW 18 74,695,380 (GRCm38) missense probably benign 0.01
R4796:Myo5b UTSW 18 74,744,630 (GRCm38) missense possibly damaging 0.68
R4924:Myo5b UTSW 18 74,695,384 (GRCm38) missense probably benign 0.19
R4972:Myo5b UTSW 18 74,627,193 (GRCm38) missense probably damaging 0.98
R5004:Myo5b UTSW 18 74,744,773 (GRCm38) critical splice donor site probably null
R5024:Myo5b UTSW 18 74,716,034 (GRCm38) missense possibly damaging 0.90
R5043:Myo5b UTSW 18 74,638,153 (GRCm38) critical splice donor site probably null
R5187:Myo5b UTSW 18 74,701,674 (GRCm38) missense possibly damaging 0.68
R5232:Myo5b UTSW 18 74,714,932 (GRCm38) missense probably damaging 0.99
R5254:Myo5b UTSW 18 74,700,606 (GRCm38) missense possibly damaging 0.65
R5255:Myo5b UTSW 18 74,662,670 (GRCm38) missense possibly damaging 0.94
R5715:Myo5b UTSW 18 74,742,175 (GRCm38) missense possibly damaging 0.88
R5733:Myo5b UTSW 18 74,654,057 (GRCm38) missense possibly damaging 0.93
R5797:Myo5b UTSW 18 74,701,521 (GRCm38) missense probably benign
R5875:Myo5b UTSW 18 74,707,902 (GRCm38) splice site probably null
R6088:Myo5b UTSW 18 74,720,898 (GRCm38) missense possibly damaging 0.89
R6104:Myo5b UTSW 18 74,700,679 (GRCm38) missense probably benign 0.19
R6237:Myo5b UTSW 18 74,742,178 (GRCm38) missense probably damaging 1.00
R6265:Myo5b UTSW 18 74,577,440 (GRCm38) splice site probably null
R6328:Myo5b UTSW 18 74,616,993 (GRCm38) missense probably damaging 1.00
R6330:Myo5b UTSW 18 74,616,993 (GRCm38) missense probably damaging 1.00
R6331:Myo5b UTSW 18 74,616,993 (GRCm38) missense probably damaging 1.00
R6347:Myo5b UTSW 18 74,770,385 (GRCm38) missense probably benign 0.11
R6479:Myo5b UTSW 18 74,617,015 (GRCm38) missense probably damaging 1.00
R6748:Myo5b UTSW 18 74,701,503 (GRCm38) missense possibly damaging 0.80
R6749:Myo5b UTSW 18 74,701,503 (GRCm38) missense possibly damaging 0.80
R6750:Myo5b UTSW 18 74,617,035 (GRCm38) missense possibly damaging 0.74
R6833:Myo5b UTSW 18 74,770,325 (GRCm38) missense probably benign
R6876:Myo5b UTSW 18 74,707,955 (GRCm38) missense probably benign
R6880:Myo5b UTSW 18 74,722,430 (GRCm38) missense probably benign 0.02
R6902:Myo5b UTSW 18 74,676,685 (GRCm38) missense possibly damaging 0.95
R6985:Myo5b UTSW 18 74,653,361 (GRCm38) missense possibly damaging 0.93
R7039:Myo5b UTSW 18 74,701,528 (GRCm38) missense probably benign 0.01
R7162:Myo5b UTSW 18 74,695,427 (GRCm38) missense probably benign 0.02
R7345:Myo5b UTSW 18 74,708,024 (GRCm38) missense possibly damaging 0.82
R7530:Myo5b UTSW 18 74,731,731 (GRCm38) missense probably benign 0.00
R7564:Myo5b UTSW 18 74,634,511 (GRCm38) missense possibly damaging 0.84
R7629:Myo5b UTSW 18 74,627,254 (GRCm38) critical splice donor site probably null
R7635:Myo5b UTSW 18 74,580,396 (GRCm38) missense probably damaging 1.00
R7670:Myo5b UTSW 18 74,701,446 (GRCm38) missense probably benign 0.05
R7754:Myo5b UTSW 18 74,634,559 (GRCm38) missense probably benign 0.02
R7930:Myo5b UTSW 18 74,731,754 (GRCm38) missense probably benign
R8013:Myo5b UTSW 18 74,760,899 (GRCm38) nonsense probably null
R8271:Myo5b UTSW 18 74,627,190 (GRCm38) missense probably damaging 1.00
R8312:Myo5b UTSW 18 74,733,962 (GRCm38) missense probably damaging 1.00
R8383:Myo5b UTSW 18 74,643,978 (GRCm38) missense probably benign 0.05
R8384:Myo5b UTSW 18 74,742,202 (GRCm38) missense probably damaging 1.00
R8474:Myo5b UTSW 18 74,770,340 (GRCm38) missense probably damaging 1.00
R8825:Myo5b UTSW 18 74,759,098 (GRCm38) missense possibly damaging 0.79
R8846:Myo5b UTSW 18 74,707,972 (GRCm38) missense probably benign 0.04
R9236:Myo5b UTSW 18 74,720,863 (GRCm38) missense probably benign
R9283:Myo5b UTSW 18 74,644,078 (GRCm38) missense probably benign 0.16
R9370:Myo5b UTSW 18 74,627,175 (GRCm38) missense possibly damaging 0.54
R9506:Myo5b UTSW 18 74,744,760 (GRCm38) missense possibly damaging 0.82
R9523:Myo5b UTSW 18 74,728,897 (GRCm38) missense possibly damaging 0.89
R9622:Myo5b UTSW 18 74,714,946 (GRCm38) missense probably damaging 0.99
R9676:Myo5b UTSW 18 74,759,160 (GRCm38) missense probably benign 0.22
R9725:Myo5b UTSW 18 74,723,770 (GRCm38) missense probably benign
RF009:Myo5b UTSW 18 74,643,999 (GRCm38) missense probably damaging 1.00
Z1088:Myo5b UTSW 18 74,744,749 (GRCm38) missense probably benign 0.35
Z1177:Myo5b UTSW 18 74,617,017 (GRCm38) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- CCACATTTATTCCCCAAGAGATGC -3'
(R):5'- TTTCAGAGGTACCTCCACCC -3'

Sequencing Primer
(F):5'- GAGATGCTTCTCACCAGGTTAC -3'
(R):5'- AATGCCAGGGCTGCCTAAG -3'
Posted On 2018-03-15