Incidental Mutation 'R9283:Myo5b'
ID 703779
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: 0.707) question?
Stock # R9283 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 74440936-74771493 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74644078 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 403 (A403V)
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: A403V

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000073790
Gene: ENSMUSG00000025885
AA Change: A403V

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: A403V

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112728
Gene: ENSMUSG00000025885
AA Change: A403V

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,350,064 V47A probably benign Het
Aamdc A G 7: 97,550,635 V140A probably benign Het
Acsm3 T A 7: 119,773,892 M206K possibly damaging Het
Adprhl1 T C 8: 13,223,540 T1073A probably benign Het
Aoc1 A G 6: 48,905,327 I46V probably benign Het
Ap4b1 A G 3: 103,814,943 S246G probably damaging Het
Bach1 A G 16: 87,719,323 T251A probably benign Het
Cry2 A G 2: 92,413,904 L308P probably damaging Het
Daam1 G T 12: 71,988,922 G964C probably damaging Het
Ddx10 T G 9: 53,235,356 N189H probably benign Het
Dlg4 T A 11: 70,031,791 C241* probably null Het
Dpy19l1 G T 9: 24,421,116 Y489* probably null Het
E2f4 C A 8: 105,297,763 A8E probably benign Het
Gm3486 T C 14: 41,488,311 N71S possibly damaging Het
Ighv1-23 A G 12: 114,764,605 W66R probably damaging Het
Kcnh5 A G 12: 74,976,533 L587P probably damaging Het
Kctd16 T C 18: 40,259,180 Y274H possibly damaging Het
Kif16b T A 2: 142,712,980 M633L probably benign Het
Kif23 T C 9: 61,945,369 N21S probably benign Het
Lamtor3 C T 3: 137,927,362 R85C probably benign Het
Lin9 A T 1: 180,665,928 T240S probably damaging Het
Mtus1 C A 8: 41,083,482 G399V probably benign Het
Mup8 C T 4: 60,221,903 V77I probably benign Het
Naf1 C A 8: 66,860,851 A162E unknown Het
Nat10 G A 2: 103,725,747 Q910* probably null Het
Nos1 G C 5: 117,879,337 R255P probably benign Het
Npas2 A G 1: 39,287,608 K58R probably damaging Het
Nsd2 A T 5: 33,843,714 I192F probably benign Het
Nup98 C A 7: 102,138,830 R1011L probably benign Het
Olfr1445 T A 19: 12,884,597 C239S probably damaging Het
Olfr1458 C A 19: 13,102,457 M282I probably damaging Het
Olfr518 C T 7: 108,881,082 A175T probably benign Het
Olfr710 G A 7: 106,944,599 T134I probably benign Het
Olfr873 A G 9: 20,301,123 K309E possibly damaging Het
Ophn1 G A X: 98,578,539 T668M probably benign Het
Pcdh17 C T 14: 84,448,153 P687S possibly damaging Het
Pdpr C T 8: 111,129,636 R664W possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 probably benign Het
Pfas A T 11: 68,993,882 V498E probably damaging Het
Pfpl A T 19: 12,428,856 Y157F probably damaging Het
Piezo2 A T 18: 63,024,566 F2358I probably damaging Het
Pip5k1b T C 19: 24,360,012 Y304C probably damaging Het
Pls1 G A 9: 95,773,589 A370V probably benign Het
Polm A T 11: 5,829,050 L490H probably damaging Het
Prdm5 T C 6: 65,881,076 C375R probably damaging Het
Scmh1 A T 4: 120,462,140 M21L probably benign Het
Sec16a C A 2: 26,423,892 R449S Het
Sin3a C T 9: 57,095,433 T203I probably damaging Het
Six5 A G 7: 19,095,223 E196G probably damaging Het
Skint8 T C 4: 111,928,447 V30A probably damaging Het
Slc2a12 G A 10: 22,664,612 G122E probably damaging Het
Smim14 A G 5: 65,468,437 C11R probably damaging Het
Sorbs2 T G 8: 45,795,737 V675G probably benign Het
Tanc1 T C 2: 59,799,830 I718T probably damaging Het
Tead4 A G 6: 128,228,629 L370P probably damaging Het
Tnrc6c A G 11: 117,700,804 K15E unknown Het
Trim55 T G 3: 19,645,448 probably null Het
Trpm1 A T 7: 64,223,875 N510I probably benign Het
Trps1 A G 15: 50,831,051 V616A probably damaging Het
Usp42 A T 5: 143,719,509 V405E probably damaging Het
Zfp11 A T 5: 129,657,684 S238T probably damaging Het
Zfp608 T C 18: 54,897,841 H1009R possibly damaging Het
Other mutations in Myo5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00798:Myo5b APN 18 74654076 splice site probably benign
IGL01083:Myo5b APN 18 74733903 splice site probably benign
IGL01448:Myo5b APN 18 74644090 missense probably damaging 0.97
IGL01516:Myo5b APN 18 74627195 missense probably damaging 0.99
IGL01525:Myo5b APN 18 74740549 missense probably damaging 1.00
IGL01873:Myo5b APN 18 74580396 missense probably damaging 1.00
IGL01887:Myo5b APN 18 74714936 missense probably benign 0.41
IGL01953:Myo5b APN 18 74569767 missense possibly damaging 0.62
IGL01976:Myo5b APN 18 74698277 missense probably damaging 1.00
IGL02017:Myo5b APN 18 74716999 missense probably damaging 1.00
IGL02331:Myo5b APN 18 74638040 critical splice acceptor site probably null
IGL02624:Myo5b APN 18 74714939 missense probably damaging 0.98
IGL02707:Myo5b APN 18 74695367 splice site probably benign
IGL02806:Myo5b APN 18 74617080 critical splice donor site probably null
IGL03009:Myo5b APN 18 74760968 missense possibly damaging 0.54
IGL03061:Myo5b APN 18 74634559 missense probably benign 0.02
IGL03061:Myo5b APN 18 74580544 splice site probably benign
unrat UTSW 18 74653361 missense possibly damaging 0.93
BB007:Myo5b UTSW 18 74731754 missense probably benign
BB017:Myo5b UTSW 18 74731754 missense probably benign
R0085:Myo5b UTSW 18 74701680 missense probably benign 0.21
R0114:Myo5b UTSW 18 74742171 missense probably benign 0.03
R0226:Myo5b UTSW 18 74742180 missense probably benign
R0242:Myo5b UTSW 18 74661716 missense possibly damaging 0.95
R0242:Myo5b UTSW 18 74661716 missense possibly damaging 0.95
R0471:Myo5b UTSW 18 74728954 splice site probably benign
R0494:Myo5b UTSW 18 74653967 missense probably damaging 1.00
R0920:Myo5b UTSW 18 74625641 missense probably benign 0.09
R1144:Myo5b UTSW 18 74625587 missense probably damaging 1.00
R1177:Myo5b UTSW 18 74644072 missense probably damaging 1.00
R1387:Myo5b UTSW 18 74644201 splice site probably benign
R1468:Myo5b UTSW 18 74740503 missense probably damaging 0.99
R1468:Myo5b UTSW 18 74740503 missense probably damaging 0.99
R1555:Myo5b UTSW 18 74569782 missense probably damaging 1.00
R1587:Myo5b UTSW 18 74733990 missense probably benign
R1600:Myo5b UTSW 18 74713540 unclassified probably benign
R1639:Myo5b UTSW 18 74707916 missense probably benign 0.19
R1779:Myo5b UTSW 18 74742147 missense probably benign 0.06
R1806:Myo5b UTSW 18 74577609 missense possibly damaging 0.91
R1929:Myo5b UTSW 18 74733925 missense probably damaging 0.99
R2046:Myo5b UTSW 18 74577455 missense probably benign 0.28
R2093:Myo5b UTSW 18 74759192 missense probably damaging 0.98
R2270:Myo5b UTSW 18 74733925 missense probably damaging 0.99
R2272:Myo5b UTSW 18 74733925 missense probably damaging 0.99
R2298:Myo5b UTSW 18 74625605 missense probably damaging 1.00
R2433:Myo5b UTSW 18 74759087 missense probably damaging 1.00
R2888:Myo5b UTSW 18 74762618 missense probably damaging 1.00
R3824:Myo5b UTSW 18 74661655 missense probably benign 0.41
R3937:Myo5b UTSW 18 74716037 missense probably damaging 0.98
R3938:Myo5b UTSW 18 74716037 missense probably damaging 0.98
R3947:Myo5b UTSW 18 74695403 missense probably damaging 1.00
R3971:Myo5b UTSW 18 74740527 missense probably damaging 1.00
R3972:Myo5b UTSW 18 74740527 missense probably damaging 1.00
R3974:Myo5b UTSW 18 74634481 missense probably damaging 1.00
R4027:Myo5b UTSW 18 74759240 missense possibly damaging 0.67
R4080:Myo5b UTSW 18 74740488 missense probably benign
R4285:Myo5b UTSW 18 74714849 missense probably benign
R4308:Myo5b UTSW 18 74731740 missense possibly damaging 0.89
R4411:Myo5b UTSW 18 74698274 missense possibly damaging 0.89
R4415:Myo5b UTSW 18 74580408 missense probably damaging 1.00
R4516:Myo5b UTSW 18 74625674 missense probably damaging 1.00
R4690:Myo5b UTSW 18 74722462 missense probably damaging 0.97
R4781:Myo5b UTSW 18 74744681 missense possibly damaging 0.80
R4786:Myo5b UTSW 18 74695380 missense probably benign 0.01
R4796:Myo5b UTSW 18 74744630 missense possibly damaging 0.68
R4924:Myo5b UTSW 18 74695384 missense probably benign 0.19
R4972:Myo5b UTSW 18 74627193 missense probably damaging 0.98
R5004:Myo5b UTSW 18 74744773 critical splice donor site probably null
R5024:Myo5b UTSW 18 74716034 missense possibly damaging 0.90
R5043:Myo5b UTSW 18 74638153 critical splice donor site probably null
R5187:Myo5b UTSW 18 74701674 missense possibly damaging 0.68
R5232:Myo5b UTSW 18 74714932 missense probably damaging 0.99
R5254:Myo5b UTSW 18 74700606 missense possibly damaging 0.65
R5255:Myo5b UTSW 18 74662670 missense possibly damaging 0.94
R5715:Myo5b UTSW 18 74742175 missense possibly damaging 0.88
R5733:Myo5b UTSW 18 74654057 missense possibly damaging 0.93
R5797:Myo5b UTSW 18 74701521 missense probably benign
R5875:Myo5b UTSW 18 74707902 splice site probably null
R6088:Myo5b UTSW 18 74720898 missense possibly damaging 0.89
R6104:Myo5b UTSW 18 74700679 missense probably benign 0.19
R6237:Myo5b UTSW 18 74742178 missense probably damaging 1.00
R6265:Myo5b UTSW 18 74577440 splice site probably null
R6267:Myo5b UTSW 18 74616991 missense probably damaging 1.00
R6328:Myo5b UTSW 18 74616993 missense probably damaging 1.00
R6330:Myo5b UTSW 18 74616993 missense probably damaging 1.00
R6331:Myo5b UTSW 18 74616993 missense probably damaging 1.00
R6347:Myo5b UTSW 18 74770385 missense probably benign 0.11
R6479:Myo5b UTSW 18 74617015 missense probably damaging 1.00
R6748:Myo5b UTSW 18 74701503 missense possibly damaging 0.80
R6749:Myo5b UTSW 18 74701503 missense possibly damaging 0.80
R6750:Myo5b UTSW 18 74617035 missense possibly damaging 0.74
R6833:Myo5b UTSW 18 74770325 missense probably benign
R6876:Myo5b UTSW 18 74707955 missense probably benign
R6880:Myo5b UTSW 18 74722430 missense probably benign 0.02
R6902:Myo5b UTSW 18 74676685 missense possibly damaging 0.95
R6985:Myo5b UTSW 18 74653361 missense possibly damaging 0.93
R7039:Myo5b UTSW 18 74701528 missense probably benign 0.01
R7162:Myo5b UTSW 18 74695427 missense probably benign 0.02
R7345:Myo5b UTSW 18 74708024 missense possibly damaging 0.82
R7530:Myo5b UTSW 18 74731731 missense probably benign 0.00
R7564:Myo5b UTSW 18 74634511 missense possibly damaging 0.84
R7629:Myo5b UTSW 18 74627254 critical splice donor site probably null
R7635:Myo5b UTSW 18 74580396 missense probably damaging 1.00
R7670:Myo5b UTSW 18 74701446 missense probably benign 0.05
R7754:Myo5b UTSW 18 74634559 missense probably benign 0.02
R7930:Myo5b UTSW 18 74731754 missense probably benign
R8013:Myo5b UTSW 18 74760899 nonsense probably null
R8271:Myo5b UTSW 18 74627190 missense probably damaging 1.00
R8312:Myo5b UTSW 18 74733962 missense probably damaging 1.00
R8383:Myo5b UTSW 18 74643978 missense probably benign 0.05
R8384:Myo5b UTSW 18 74742202 missense probably damaging 1.00
R8474:Myo5b UTSW 18 74770340 missense probably damaging 1.00
R8825:Myo5b UTSW 18 74759098 missense possibly damaging 0.79
R8846:Myo5b UTSW 18 74707972 missense probably benign 0.04
R9236:Myo5b UTSW 18 74720863 missense probably benign
R9370:Myo5b UTSW 18 74627175 missense possibly damaging 0.54
R9506:Myo5b UTSW 18 74744760 missense possibly damaging 0.82
R9523:Myo5b UTSW 18 74728897 missense possibly damaging 0.89
R9622:Myo5b UTSW 18 74714946 missense probably damaging 0.99
R9676:Myo5b UTSW 18 74759160 missense probably benign 0.22
R9725:Myo5b UTSW 18 74723770 missense probably benign
RF009:Myo5b UTSW 18 74643999 missense probably damaging 1.00
Z1088:Myo5b UTSW 18 74744749 missense probably benign 0.35
Z1177:Myo5b UTSW 18 74617017 missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- CGTGTGCACAGGAGCCTAT -3'
(R):5'- TGGCTCCCAAATGTCAACAGG -3'

Sequencing Primer
(F):5'- AATGCCCTACAGTTGGATCTCATGG -3'
(R):5'- AGGAACATACTTATGACCATCAGG -3'
Posted On 2022-03-25