Incidental Mutation 'R4690:Myo5b'
ID 354884
Institutional Source Beutler Lab
Gene Symbol Myo5b
Ensembl Gene ENSMUSG00000025885
Gene Name myosin VB
Synonyms
MMRRC Submission 041941-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.734) question?
Stock # R4690 (G1)
Quality Score 221
Status Validated
Chromosome 18
Chromosomal Location 74575435-74905769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74855533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 1241 (N1241Y)
Ref Sequence ENSEMBL: ENSMUSP00000112728 (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: N1241Y

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: N1241Y

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: N1241Y

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: N1241Y

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 noncoding transcript
Transcript: ENSMUST00000146253
Meta Mutation Damage Score 0.0991 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 98% (89/91)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,039,706 (GRCm39) F436L probably damaging Het
Adam28 G T 14: 68,879,497 (GRCm39) Q184K probably benign Het
Adh6a A G 3: 138,031,932 (GRCm39) T275A possibly damaging Het
Agap2 A G 10: 126,927,244 (GRCm39) D1082G possibly damaging Het
Alox5 A T 6: 116,400,150 (GRCm39) V263E probably damaging Het
Arhgef16 C T 4: 154,372,420 (GRCm39) probably null Het
Bspry G A 4: 62,404,762 (GRCm39) R186Q probably damaging Het
Ccdc188 T A 16: 18,036,159 (GRCm39) H111Q probably damaging Het
Cd40 T C 2: 164,911,615 (GRCm39) F209S possibly damaging Het
Cfap43 C A 19: 47,736,298 (GRCm39) V1398L probably benign Het
Cln3 A T 7: 126,174,565 (GRCm39) I286N possibly damaging Het
Col9a1 T C 1: 24,263,787 (GRCm39) probably null Het
Cpne9 A G 6: 113,279,016 (GRCm39) E470G probably damaging Het
Cul5 A T 9: 53,534,171 (GRCm39) W654R probably damaging Het
Cyp2a22 T A 7: 26,638,634 (GRCm39) K51* probably null Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dot1l C A 10: 80,622,016 (GRCm39) S556* probably null Het
Eif3d A T 15: 77,851,516 (GRCm39) M98K probably benign Het
Fiz1 A G 7: 5,012,167 (GRCm39) V117A probably benign Het
Fryl A G 5: 73,257,636 (GRCm39) V722A probably benign Het
Ftdc1 G A 16: 58,434,333 (GRCm39) T128I probably benign Het
Gm3095 G T 14: 3,964,471 (GRCm38) R63I probably benign Het
Gm7133 A T 1: 97,197,224 (GRCm39) noncoding transcript Het
Hoxb8 A T 11: 96,175,286 (GRCm39) D241V probably benign Het
Hrnr A G 3: 93,230,959 (GRCm39) Q399R unknown Het
Itpk1 A T 12: 102,572,434 (GRCm39) V93D probably damaging Het
Kars1 C T 8: 112,729,216 (GRCm39) A164T probably benign Het
Kcnq4 A T 4: 120,574,208 (GRCm39) I150N probably damaging Het
Kcnrg A T 14: 61,849,176 (GRCm39) L212F probably damaging Het
Kif5b A T 18: 6,216,759 (GRCm39) D521E probably benign Het
Klf11 C T 12: 24,705,071 (GRCm39) T158M probably damaging Het
Klhl6 T C 16: 19,776,034 (GRCm39) I175V probably benign Het
Lsm1 A G 8: 26,283,708 (GRCm39) N40S probably damaging Het
Map1b T C 13: 99,567,576 (GRCm39) E1715G unknown Het
Mecom C A 3: 30,292,459 (GRCm39) A4S probably benign Het
Muc5b G A 7: 141,396,031 (GRCm39) V96M unknown Het
Mug2 A T 6: 122,013,255 (GRCm39) I341L probably benign Het
Mxra7 A T 11: 116,707,078 (GRCm39) probably null Het
Myo5a T C 9: 75,061,105 (GRCm39) L537P probably damaging Het
Naa16 T C 14: 79,582,497 (GRCm39) R531G probably damaging Het
Neb T A 2: 52,134,087 (GRCm39) M3299L probably benign Het
Nlrp4b T A 7: 10,453,130 (GRCm39) Y76N probably benign Het
Nmral1 T C 16: 4,534,205 (GRCm39) T79A probably damaging Het
Noct C T 3: 51,155,300 (GRCm39) Q23* probably null Het
Nrxn1 A T 17: 90,344,509 (GRCm39) V438D probably damaging Het
Or5b109 A C 19: 13,212,132 (GRCm39) N173H possibly damaging Het
Or5m9 T A 2: 85,877,242 (GRCm39) C139S probably damaging Het
Oxct2a T C 4: 123,216,836 (GRCm39) T182A probably benign Het
Pank2 T C 2: 131,115,945 (GRCm39) I121T probably damaging Het
Pcdh1 T A 18: 38,336,528 (GRCm39) T36S probably benign Het
Pfdn1 A T 18: 36,584,133 (GRCm39) M67K possibly damaging Het
Plec T C 15: 76,058,456 (GRCm39) E3849G probably damaging Het
Polr3a A T 14: 24,514,349 (GRCm39) S817T possibly damaging Het
Pomgnt1 T A 4: 116,012,707 (GRCm39) D401E probably damaging Het
Ppp1r13b T A 12: 111,798,992 (GRCm39) D891V probably damaging Het
Prr14l A G 5: 33,001,500 (GRCm39) probably benign Het
Ptk2b A G 14: 66,410,749 (GRCm39) probably null Het
Rab13 G C 3: 90,128,330 (GRCm39) probably null Het
Rexo1 C T 10: 80,382,255 (GRCm39) A751T probably benign Het
Rfx1 T C 8: 84,809,374 (GRCm39) V233A possibly damaging Het
Rnf149 C T 1: 39,616,295 (GRCm39) probably benign Het
Rrm1 A G 7: 102,097,086 (GRCm39) D122G probably benign Het
Serpina1b A G 12: 103,698,639 (GRCm39) F70S probably damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Sh3rf3 T C 10: 58,649,526 (GRCm39) S44P possibly damaging Het
Shroom1 A G 11: 53,356,549 (GRCm39) T471A possibly damaging Het
Slc6a1 A G 6: 114,279,792 (GRCm39) Y152C probably damaging Het
Spata31f3 T A 4: 42,873,032 (GRCm39) probably null Het
Spata6 A T 4: 111,632,023 (GRCm39) T145S probably damaging Het
Srcap G A 7: 127,137,186 (GRCm39) G956D probably damaging Het
Ssh2 A T 11: 77,346,031 (GRCm39) I1339F possibly damaging Het
Tardbp A T 4: 148,697,078 (GRCm39) *99K probably null Het
Tbc1d22a A G 15: 86,196,037 (GRCm39) Y336C probably damaging Het
Tmcc3 G A 10: 94,381,419 (GRCm39) probably benign Het
Tmem178b T G 6: 40,222,547 (GRCm39) D87E probably benign Het
Tmem184a A C 5: 139,791,377 (GRCm39) S380A probably benign Het
Tnfaip2 A G 12: 111,411,682 (GRCm39) K84R possibly damaging Het
Tpgs1 A G 10: 79,511,235 (GRCm39) T126A probably benign Het
Traf3ip1 A G 1: 91,447,834 (GRCm39) E437G possibly damaging Het
Trpc4ap C T 2: 155,477,053 (GRCm39) C755Y probably damaging Het
Tsfm A G 10: 126,866,547 (GRCm39) probably benign Het
Tulp1 A C 17: 28,570,811 (GRCm39) probably benign Het
Vmn1r23 A T 6: 57,903,010 (GRCm39) M256K probably benign Het
Zdhhc8 T C 16: 18,044,605 (GRCm39) D305G probably damaging Het
Zfp326 G A 5: 106,054,942 (GRCm39) R282H 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
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
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'- CACCGATCTAGCAGGCATCAAG -3'
(R):5'- AGGCAGAGGTCCTGTTCTTTC -3'

Sequencing Primer
(F):5'- TCTAGCAGGCATCAAGGTGTGC -3'
(R):5'- GGTTTAAGACCTCCCTGAGTAAAGAC -3'
Posted On 2015-10-21