Incidental Mutation 'R7162:Myo5b'
ID 557697
Institutional Source Beutler Lab
Gene Symbol Myo5b
Ensembl Gene ENSMUSG00000025885
Gene Name myosin VB
Synonyms
MMRRC Submission 045261-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # R7162 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 74440936-74771493 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to G at 74695427 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 717 (L717V)
Ref Sequence ENSEMBL: ENSMUSP00000073790 (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: L717V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: L717V

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: L717V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: L717V

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (85/86)
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
Akp3 C T 1: 87,127,749 (GRCm38) T506I unknown Het
Ank1 T C 8: 23,132,354 (GRCm38) W1640R possibly damaging Het
Atp2a2 A G 5: 122,489,324 (GRCm38) M126T probably benign Het
Bptf A T 11: 107,043,631 (GRCm38) probably null Het
Brat1 T C 5: 140,710,249 (GRCm38) V125A probably benign Het
Cables1 T C 18: 11,926,366 (GRCm38) probably null Het
Cabp5 A T 7: 13,401,335 (GRCm38) M67L probably damaging Het
Cacna1b A C 2: 24,700,022 (GRCm38) I558S probably benign Het
Ccdc166 A G 15: 75,981,195 (GRCm38) S308P probably benign Het
Cfap57 C T 4: 118,614,931 (GRCm38) V84I probably benign Het
Cfhr2 A G 1: 139,813,526 (GRCm38) V237A probably benign Het
Clybl C A 14: 122,371,320 (GRCm38) S108* probably null Het
Cubn A G 2: 13,342,498 (GRCm38) Y2070H probably damaging Het
Cyp8b1 A G 9: 121,915,711 (GRCm38) F185S probably damaging Het
Dennd2c T A 3: 103,156,107 (GRCm38) V620D probably damaging Het
Dis3l2 T C 1: 87,044,030 (GRCm38) F597L possibly damaging Het
Eif3f G A 7: 108,940,731 (GRCm38) R282H probably benign Het
Ell C A 8: 70,578,909 (GRCm38) R86S possibly damaging Het
Eppk1 A G 15: 76,106,609 (GRCm38) V2024A possibly damaging Het
Exoc6 T C 19: 37,577,118 (GRCm38) I214T probably damaging Het
Faim2 A G 15: 99,521,167 (GRCm38) probably null Het
Gli1 A G 10: 127,332,437 (GRCm38) S516P probably benign Het
Gm18596 A T 10: 77,742,200 (GRCm38) S147T unknown Het
Gm19965 A G 1: 116,822,365 (GRCm38) Y592C unknown Het
Gng12 T C 6: 67,017,301 (GRCm38) S36P unknown Het
Gramd2b G A 18: 56,485,457 (GRCm38) probably null Het
Hmcn1 T A 1: 150,748,993 (GRCm38) T1054S probably benign Het
Ifngr1 A G 10: 19,609,353 (GRCm38) T367A probably benign Het
Il21r G T 7: 125,632,311 (GRCm38) V304L probably benign Het
Ino80d G A 1: 63,065,735 (GRCm38) T394M probably damaging Het
Itfg2 C T 6: 128,410,583 (GRCm38) V380M probably damaging Het
Kcna5 C T 6: 126,533,843 (GRCm38) V441I possibly damaging Het
Kcp T A 6: 29,497,200 (GRCm38) probably null Het
Kdf1 C T 4: 133,529,918 (GRCm38) T375I unknown Het
Klk1b1 A T 7: 43,969,247 (GRCm38) D16V probably damaging Het
Krtap5-4 A C 7: 142,303,598 (GRCm38) T2P unknown Het
Lamtor1 A G 7: 101,906,036 (GRCm38) D13G probably benign Het
Lrp10 T C 14: 54,465,706 (GRCm38) V72A possibly damaging Het
Lrrc1 C A 9: 77,432,190 (GRCm38) A503S probably benign Het
Mylk A T 16: 34,922,529 (GRCm38) D1137V probably damaging Het
Myoz3 T A 18: 60,576,413 (GRCm38) R225S probably damaging Het
Myrf A G 19: 10,218,646 (GRCm38) F335L possibly damaging Het
Nfib A C 4: 82,350,440 (GRCm38) S292A probably damaging Het
Notch3 G T 17: 32,146,449 (GRCm38) H1096Q probably damaging Het
Nt5c1a A G 4: 123,214,105 (GRCm38) R194G probably benign Het
Or10d3 A G 9: 39,550,229 (GRCm38) I214T probably damaging Het
Or5a1 A G 19: 12,120,137 (GRCm38) F192L possibly damaging Het
Parp4 A G 14: 56,648,876 (GRCm38) E1804G unknown Het
Pcdhac2 A T 18: 37,145,787 (GRCm38) I607L probably benign Het
Pcdhb5 A G 18: 37,321,686 (GRCm38) D373G probably benign Het
Pcf11 A T 7: 92,664,013 (GRCm38) V154E probably damaging Het
Pdia3 T G 2: 121,429,521 (GRCm38) D180E probably benign Het
Piezo2 C A 18: 63,124,709 (GRCm38) V313F possibly damaging Het
Pik3ap1 C A 19: 41,321,526 (GRCm38) A452S probably benign Het
Plb1 A G 5: 32,349,663 (GRCm38) K1194R probably benign Het
Pld3 A C 7: 27,532,474 (GRCm38) W431G probably damaging Het
Plekha3 T C 2: 76,692,766 (GRCm38) probably null Het
Ppm1f G T 16: 16,914,193 (GRCm38) R169L probably damaging Het
Ppp2r3d A G 9: 124,439,673 (GRCm38) V60A Het
Prop1 T A 11: 50,952,054 (GRCm38) D102V probably damaging Het
Rbm27 G A 18: 42,314,027 (GRCm38) G446R unknown Het
Rc3h2 C A 2: 37,409,605 (GRCm38) V138L possibly damaging Het
Rorc G A 3: 94,377,608 (GRCm38) probably null Het
Sardh A G 2: 27,197,690 (GRCm38) V723A possibly damaging Het
Sart3 A G 5: 113,762,835 (GRCm38) Y181H probably damaging Het
Sbpl A T 17: 23,953,465 (GRCm38) M160K possibly damaging Het
Sh3gl3 A G 7: 82,284,142 (GRCm38) S238G probably benign Het
Slc22a30 A G 19: 8,336,717 (GRCm38) probably null Het
Slc3a1 A T 17: 85,064,014 (GRCm38) R665* probably null Het
Stk32a C A 18: 43,297,584 (GRCm38) Y186* probably null Het
Stxbp6 T C 12: 44,902,880 (GRCm38) N89D probably benign Het
Svep1 A G 4: 58,070,262 (GRCm38) F2508S possibly damaging Het
Tas1r1 A G 4: 152,032,238 (GRCm38) V313A possibly damaging Het
Tmem81 T C 1: 132,507,617 (GRCm38) Y54H probably damaging Het
Tmtc1 T C 6: 148,271,487 (GRCm38) N582S probably damaging Het
Top2b T C 14: 16,416,653 (GRCm38) S1138P probably benign Het
Trim24 T A 6: 37,965,521 (GRCm38) N989K possibly damaging Het
Trim72 T A 7: 128,007,649 (GRCm38) M145K probably benign Het
Ttll9 T A 2: 152,989,603 (GRCm38) S154T probably damaging Het
Tusc3 T C 8: 39,126,587 (GRCm38) V286A probably benign Het
Vat1l C A 8: 114,236,778 (GRCm38) H185N probably damaging Het
Vmn1r209 A T 13: 22,805,958 (GRCm38) D187E probably damaging Het
Vmn2r87 T C 10: 130,477,547 (GRCm38) N450S probably benign Het
Wdr7 T A 18: 63,724,139 (GRCm38) D95E possibly damaging Het
Zfp937 C T 2: 150,239,519 (GRCm38) H490Y probably benign Het
Zfp974 A T 7: 27,911,519 (GRCm38) H260Q 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
R6267:Myo5b UTSW 18 74,616,991 (GRCm38) missense probably damaging 1.00
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
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'- TTCAGGGATGCTGACACACTG -3'
(R):5'- AGTCTCTGTTGTAGGAAATGGC -3'

Sequencing Primer
(F):5'- ATGCTGACACACTGGGGTTC -3'
(R):5'- GGAAATGGCTTAACATCTCTGG -3'
Posted On 2019-06-26