Incidental Mutation 'R4646:Myo7b'
ID 350301
Institutional Source Beutler Lab
Gene Symbol Myo7b
Ensembl Gene ENSMUSG00000024388
Gene Name myosin VIIB
Synonyms
MMRRC Submission 041907-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4646 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 31959234-32036961 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31994369 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 627 (V627F)
Ref Sequence ENSEMBL: ENSMUSP00000118046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134663]
AlphaFold Q99MZ6
Predicted Effect probably benign
Transcript: ENSMUST00000134663
AA Change: V627F

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: V627F

DomainStartEndE-ValueType
MYSc 59 761 N/A SMART
IQ 762 784 1.07e-1 SMART
IQ 785 807 7.01e-6 SMART
IQ 831 853 4.93e-1 SMART
IQ 854 876 1.63e-1 SMART
MyTH4 989 1189 1.14e-71 SMART
B41 1190 1409 3.66e-16 SMART
SH3 1501 1563 3.25e-7 SMART
MyTH4 1641 1790 7.66e-55 SMART
B41 1792 2009 8.19e-28 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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 is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskeleton and is essential for proper microvilli function. This protein aids in the accumulation of intermicrovillar adhesion components such as harmonin and ANKS4B, and this accumulation is necessary for normal brush border action. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700031F05Rik G T X: 102,860,909 (GRCm38) N132K possibly damaging Het
2010315B03Rik T A 9: 124,293,598 (GRCm38) Y232F probably benign Het
Acadl A T 1: 66,831,443 (GRCm38) S428R probably benign Het
Adamts10 A G 17: 33,545,555 (GRCm38) D683G probably damaging Het
Angptl4 G A 17: 33,781,299 (GRCm38) P32S probably benign Het
Apob A G 12: 8,012,759 (GRCm38) N134S probably benign Het
Atr G A 9: 95,871,197 (GRCm38) probably null Het
B4galnt1 G A 10: 127,167,836 (GRCm38) V223M probably damaging Het
Bbs10 A G 10: 111,301,134 (GRCm38) K703E probably benign Het
C1galt1c1 A T X: 38,631,472 (GRCm38) S216T probably benign Het
C2cd3 A C 7: 100,372,450 (GRCm38) probably benign Het
Clca4b A C 3: 144,928,525 (GRCm38) H102Q probably benign Het
Cntrl T C 2: 35,149,461 (GRCm38) I557T probably damaging Het
Col26a1 G A 5: 136,847,550 (GRCm38) S72F probably damaging Het
Crocc2 G A 1: 93,168,794 (GRCm38) V24M possibly damaging Het
Csmd1 T C 8: 15,932,511 (GRCm38) I2719V possibly damaging Het
Cul9 C T 17: 46,539,017 (GRCm38) W502* probably null Het
Dazl A T 17: 50,288,155 (GRCm38) F84I probably damaging Het
Dcaf1 G T 9: 106,846,807 (GRCm38) R478L probably benign Het
Dock5 T G 14: 67,842,779 (GRCm38) I198L probably benign Het
Dock9 A T 14: 121,586,246 (GRCm38) L1428H probably damaging Het
Dync1li1 T A 9: 114,709,169 (GRCm38) V198E probably damaging Het
E130309D02Rik A T 5: 143,307,985 (GRCm38) W246R probably damaging Het
Egf A T 3: 129,720,276 (GRCm38) C429S probably damaging Het
Ehmt1 T C 2: 24,891,684 (GRCm38) E7G probably null Het
Ercc4 G T 16: 13,147,574 (GRCm38) R690L probably damaging Het
Erich5 T C 15: 34,470,966 (GRCm38) C114R possibly damaging Het
Etv1 T C 12: 38,865,686 (GRCm38) S428P possibly damaging Het
Fbxo31 G T 8: 121,560,016 (GRCm38) F174L probably benign Het
Fbxo33 T A 12: 59,204,431 (GRCm38) I433L probably benign Het
Fez2 A T 17: 78,412,928 (GRCm38) V99E probably damaging Het
Gabarapl2 A C 8: 111,942,553 (GRCm38) K48Q probably damaging Het
Gfi1b T A 2: 28,610,137 (GRCm38) H294L probably damaging Het
Gk2 A G 5: 97,456,197 (GRCm38) S261P probably damaging Het
Gpr158 T C 2: 21,827,053 (GRCm38) I988T probably benign Het
Grk3 G C 5: 112,929,720 (GRCm38) H394D probably benign Het
Grm6 A G 11: 50,857,206 (GRCm38) E381G probably benign Het
Gtf3c1 A T 7: 125,659,094 (GRCm38) M1268K possibly damaging Het
Hikeshi A T 7: 89,923,646 (GRCm38) I113N probably damaging Het
Hmg20b T A 10: 81,348,582 (GRCm38) Q129L probably damaging Het
Hunk C A 16: 90,475,903 (GRCm38) T365K probably damaging Het
Kdm5a T G 6: 120,374,977 (GRCm38) V176G possibly damaging Het
Kif2a T A 13: 106,962,185 (GRCm38) E691V probably damaging Het
Ly6e T C 15: 74,958,661 (GRCm38) probably null Het
Map1b G T 13: 99,432,469 (GRCm38) P1248Q unknown Het
Mettl25 A G 10: 105,826,555 (GRCm38) S185P probably damaging Het
Mfap3l T A 8: 60,671,150 (GRCm38) V142D probably damaging Het
Mip T A 10: 128,227,053 (GRCm38) H122Q probably benign Het
Mkx G A 18: 6,992,040 (GRCm38) T280I probably benign Het
Msi1 A T 5: 115,451,455 (GRCm38) probably null Het
Mtcl2 T C 2: 157,020,506 (GRCm38) E1501G probably damaging Het
Muc5b A G 7: 141,862,640 (GRCm38) M3108V probably benign Het
Mybl1 A G 1: 9,672,286 (GRCm38) S625P probably damaging Het
Ndst3 A T 3: 123,672,035 (GRCm38) I96N probably damaging Het
Nrp1 A T 8: 128,457,944 (GRCm38) T357S probably benign Het
Obscn G T 11: 59,124,570 (GRCm38) Y1050* probably null Het
Or2ak7 A G 11: 58,684,730 (GRCm38) N286D probably damaging Het
Or2d4 A T 7: 106,944,340 (GRCm38) N220K probably benign Het
Or2y1c A C 11: 49,470,624 (GRCm38) I158L probably benign Het
Or4c107 T A 2: 88,959,212 (GRCm38) F249I probably damaging Het
Or5d47 A T 2: 87,973,798 (GRCm38) I289K probably benign Het
Or5i1 T C 2: 87,783,221 (GRCm38) V227A possibly damaging Het
Otof T C 5: 30,383,570 (GRCm38) E875G possibly damaging Het
Pick1 A T 15: 79,248,937 (GRCm38) D399V probably benign Het
Pik3c2g T A 6: 139,720,018 (GRCm38) S22T probably benign Het
Pnpla2 A G 7: 141,458,661 (GRCm38) E276G possibly damaging Het
Pomk A T 8: 25,983,605 (GRCm38) S107T probably damaging Het
Rbm46 A T 3: 82,864,458 (GRCm38) D283E probably benign Het
Rimbp3 A G 16: 17,213,098 (GRCm38) D1462G probably damaging Het
Rnf112 T A 11: 61,452,110 (GRCm38) E230V probably damaging Het
Rock1 T C 18: 10,112,391 (GRCm38) T455A probably benign Het
Rtp4 A T 16: 23,610,040 (GRCm38) M18L probably benign Het
Scaf11 A T 15: 96,420,100 (GRCm38) probably null Het
Schip1 T C 3: 68,064,964 (GRCm38) V8A probably benign Het
Sec31b T C 19: 44,526,621 (GRCm38) H351R probably benign Het
Sh3bp5l A G 11: 58,346,351 (GRCm38) D378G probably benign Het
Sowahb T C 5: 93,042,856 (GRCm38) D668G probably damaging Het
Spam1 A G 6: 24,800,587 (GRCm38) T442A probably benign Het
Syt14 T A 1: 192,933,325 (GRCm38) Y451F probably damaging Het
Tafa5 T G 15: 87,720,582 (GRCm38) S115A probably damaging Het
Tdh A G 14: 63,493,756 (GRCm38) L323P possibly damaging Het
Tet2 A T 3: 133,488,082 (GRCm38) M197K probably benign Het
Thbs1 G A 2: 118,118,329 (GRCm38) A489T probably benign Het
Tnfaip1 C T 11: 78,529,182 (GRCm38) R88Q probably damaging Het
Tnn T C 1: 160,146,042 (GRCm38) M252V probably benign Het
Trdn G T 10: 33,195,981 (GRCm38) E215* probably null Het
Trim55 T C 3: 19,671,122 (GRCm38) F268L probably benign Het
Trmt112 T A 19: 6,910,448 (GRCm38) V55E possibly damaging Het
Tube1 A G 10: 39,142,367 (GRCm38) M147V possibly damaging Het
Ubn1 A G 16: 5,077,987 (GRCm38) T966A probably damaging Het
Unc80 A G 1: 66,669,235 (GRCm38) I2651V probably benign Het
Vmn1r172 G A 7: 23,660,494 (GRCm38) R268H probably benign Het
Vmn1r231 T A 17: 20,890,309 (GRCm38) I115F probably damaging Het
Vmn1r237 A G 17: 21,314,138 (GRCm38) K41R probably benign Het
Vmn2r58 A T 7: 41,860,511 (GRCm38) N547K probably damaging Het
Vmn2r74 T C 7: 85,957,574 (GRCm38) D188G probably benign Het
Vwa5b2 A G 16: 20,596,329 (GRCm38) K367R probably damaging Het
Washc4 T A 10: 83,574,543 (GRCm38) M665K possibly damaging Het
Wbp11 T A 6: 136,821,191 (GRCm38) Y236F probably benign Het
Wbp4 T A 14: 79,472,361 (GRCm38) I145F possibly damaging Het
Wwc2 C A 8: 47,920,601 (GRCm38) D77Y probably damaging Het
Zpld2 G A 4: 134,202,148 (GRCm38) A282V probably benign Het
Other mutations in Myo7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Myo7b APN 18 32,021,556 (GRCm38) utr 5 prime probably benign
IGL01799:Myo7b APN 18 31,962,770 (GRCm38) missense probably damaging 1.00
IGL01881:Myo7b APN 18 32,000,267 (GRCm38) splice site probably benign
IGL01883:Myo7b APN 18 31,998,151 (GRCm38) missense probably damaging 1.00
IGL01934:Myo7b APN 18 32,001,341 (GRCm38) critical splice donor site probably null
IGL01980:Myo7b APN 18 31,961,900 (GRCm38) missense possibly damaging 0.86
IGL02506:Myo7b APN 18 31,967,154 (GRCm38) missense probably damaging 1.00
IGL02704:Myo7b APN 18 31,966,961 (GRCm38) missense probably benign 0.13
IGL02929:Myo7b APN 18 31,994,925 (GRCm38) missense probably benign 0.19
IGL03149:Myo7b APN 18 32,014,302 (GRCm38) missense probably damaging 1.00
IGL03335:Myo7b APN 18 31,985,020 (GRCm38) missense possibly damaging 0.81
IGL03372:Myo7b APN 18 31,998,601 (GRCm38) missense probably damaging 1.00
IGL03385:Myo7b APN 18 31,989,577 (GRCm38) missense probably benign 0.00
PIT4131001:Myo7b UTSW 18 31,961,206 (GRCm38) missense probably benign 0.17
PIT4445001:Myo7b UTSW 18 31,962,352 (GRCm38) missense probably damaging 0.96
PIT4445001:Myo7b UTSW 18 31,959,466 (GRCm38) missense possibly damaging 0.80
R0034:Myo7b UTSW 18 31,960,860 (GRCm38) missense probably damaging 1.00
R0138:Myo7b UTSW 18 32,010,151 (GRCm38) missense probably damaging 1.00
R0149:Myo7b UTSW 18 32,014,209 (GRCm38) missense probably damaging 1.00
R0226:Myo7b UTSW 18 31,972,896 (GRCm38) missense probably benign 0.00
R0312:Myo7b UTSW 18 32,014,337 (GRCm38) missense possibly damaging 0.68
R0361:Myo7b UTSW 18 32,014,209 (GRCm38) missense probably damaging 1.00
R0506:Myo7b UTSW 18 31,964,386 (GRCm38) critical splice donor site probably null
R0524:Myo7b UTSW 18 32,013,424 (GRCm38) missense possibly damaging 0.91
R0645:Myo7b UTSW 18 31,994,909 (GRCm38) missense probably benign 0.10
R0724:Myo7b UTSW 18 32,005,549 (GRCm38) splice site probably benign
R0731:Myo7b UTSW 18 31,961,825 (GRCm38) splice site probably null
R0762:Myo7b UTSW 18 31,983,944 (GRCm38) missense probably benign 0.01
R0843:Myo7b UTSW 18 31,974,084 (GRCm38) missense possibly damaging 0.83
R0894:Myo7b UTSW 18 32,000,070 (GRCm38) missense probably damaging 1.00
R0966:Myo7b UTSW 18 31,998,763 (GRCm38) missense probably damaging 1.00
R1205:Myo7b UTSW 18 31,994,342 (GRCm38) missense probably damaging 1.00
R1387:Myo7b UTSW 18 31,983,752 (GRCm38) splice site probably benign
R1523:Myo7b UTSW 18 31,966,876 (GRCm38) missense probably damaging 1.00
R1544:Myo7b UTSW 18 31,994,909 (GRCm38) missense probably benign 0.10
R1623:Myo7b UTSW 18 32,000,051 (GRCm38) missense probably damaging 1.00
R1780:Myo7b UTSW 18 31,961,185 (GRCm38) missense probably damaging 1.00
R1785:Myo7b UTSW 18 31,994,897 (GRCm38) missense probably benign
R1786:Myo7b UTSW 18 31,994,897 (GRCm38) missense probably benign
R1796:Myo7b UTSW 18 31,986,675 (GRCm38) missense possibly damaging 0.93
R1907:Myo7b UTSW 18 31,976,999 (GRCm38) missense possibly damaging 0.89
R2027:Myo7b UTSW 18 31,984,960 (GRCm38) missense probably benign
R2102:Myo7b UTSW 18 31,999,978 (GRCm38) missense probably damaging 1.00
R2174:Myo7b UTSW 18 31,983,557 (GRCm38) missense probably damaging 1.00
R2272:Myo7b UTSW 18 31,977,043 (GRCm38) missense probably benign 0.41
R2323:Myo7b UTSW 18 31,971,345 (GRCm38) missense probably damaging 1.00
R2365:Myo7b UTSW 18 32,014,331 (GRCm38) missense probably damaging 0.98
R3078:Myo7b UTSW 18 31,967,184 (GRCm38) missense probably benign 0.04
R3522:Myo7b UTSW 18 32,010,079 (GRCm38) missense probably damaging 1.00
R3788:Myo7b UTSW 18 31,974,112 (GRCm38) missense possibly damaging 0.95
R3880:Myo7b UTSW 18 31,969,514 (GRCm38) missense probably damaging 0.96
R4334:Myo7b UTSW 18 31,976,987 (GRCm38) missense probably damaging 1.00
R4343:Myo7b UTSW 18 31,983,627 (GRCm38) missense probably damaging 1.00
R4497:Myo7b UTSW 18 32,014,229 (GRCm38) missense probably benign 0.06
R4498:Myo7b UTSW 18 32,014,229 (GRCm38) missense probably benign 0.06
R4551:Myo7b UTSW 18 31,985,108 (GRCm38) missense probably benign 0.01
R4593:Myo7b UTSW 18 32,013,375 (GRCm38) missense possibly damaging 0.77
R4616:Myo7b UTSW 18 32,003,487 (GRCm38) splice site probably null
R4648:Myo7b UTSW 18 31,967,125 (GRCm38) splice site probably null
R4737:Myo7b UTSW 18 31,998,602 (GRCm38) missense probably damaging 1.00
R4765:Myo7b UTSW 18 31,961,900 (GRCm38) missense probably benign 0.00
R4790:Myo7b UTSW 18 32,000,105 (GRCm38) splice site probably null
R4909:Myo7b UTSW 18 31,964,436 (GRCm38) missense probably benign 0.01
R5027:Myo7b UTSW 18 31,975,212 (GRCm38) missense probably benign 0.22
R5034:Myo7b UTSW 18 31,971,387 (GRCm38) missense probably damaging 1.00
R5112:Myo7b UTSW 18 31,983,587 (GRCm38) missense probably damaging 1.00
R5266:Myo7b UTSW 18 31,998,734 (GRCm38) missense probably damaging 1.00
R5267:Myo7b UTSW 18 31,998,734 (GRCm38) missense probably damaging 1.00
R5348:Myo7b UTSW 18 31,983,919 (GRCm38) missense probably damaging 0.96
R5457:Myo7b UTSW 18 31,971,450 (GRCm38) splice site probably null
R5540:Myo7b UTSW 18 32,007,090 (GRCm38) missense probably damaging 1.00
R5628:Myo7b UTSW 18 31,974,187 (GRCm38) missense probably benign
R5815:Myo7b UTSW 18 31,966,288 (GRCm38) missense probably damaging 1.00
R6062:Myo7b UTSW 18 31,967,990 (GRCm38) missense possibly damaging 0.94
R6137:Myo7b UTSW 18 31,999,974 (GRCm38) missense probably damaging 1.00
R6158:Myo7b UTSW 18 31,988,549 (GRCm38) missense probably benign 0.00
R6218:Myo7b UTSW 18 31,959,454 (GRCm38) missense probably benign 0.10
R6256:Myo7b UTSW 18 31,983,695 (GRCm38) missense probably damaging 1.00
R6257:Myo7b UTSW 18 32,013,415 (GRCm38) missense probably damaging 1.00
R6265:Myo7b UTSW 18 31,998,150 (GRCm38) missense probably damaging 1.00
R6302:Myo7b UTSW 18 31,994,386 (GRCm38) missense probably damaging 0.98
R6438:Myo7b UTSW 18 31,966,329 (GRCm38) missense probably damaging 1.00
R6654:Myo7b UTSW 18 31,990,269 (GRCm38) missense possibly damaging 0.46
R7030:Myo7b UTSW 18 31,971,573 (GRCm38) missense probably damaging 1.00
R7090:Myo7b UTSW 18 31,998,712 (GRCm38) missense probably damaging 1.00
R7210:Myo7b UTSW 18 32,007,102 (GRCm38) missense probably damaging 1.00
R7218:Myo7b UTSW 18 31,981,001 (GRCm38) missense probably benign 0.05
R7378:Myo7b UTSW 18 31,966,239 (GRCm38) missense probably damaging 1.00
R7458:Myo7b UTSW 18 31,988,551 (GRCm38) missense possibly damaging 0.89
R7517:Myo7b UTSW 18 32,013,267 (GRCm38) missense probably damaging 0.99
R7559:Myo7b UTSW 18 31,983,360 (GRCm38) missense probably benign 0.01
R7667:Myo7b UTSW 18 31,961,905 (GRCm38) missense probably benign
R7737:Myo7b UTSW 18 32,014,204 (GRCm38) nonsense probably null
R7942:Myo7b UTSW 18 32,013,369 (GRCm38) missense probably damaging 0.98
R8030:Myo7b UTSW 18 31,998,082 (GRCm38) missense probably damaging 0.96
R8114:Myo7b UTSW 18 31,965,624 (GRCm38) missense probably damaging 1.00
R8338:Myo7b UTSW 18 31,971,355 (GRCm38) missense probably damaging 0.96
R8341:Myo7b UTSW 18 31,983,926 (GRCm38) missense probably benign 0.39
R8406:Myo7b UTSW 18 31,959,813 (GRCm38) missense probably damaging 1.00
R8464:Myo7b UTSW 18 31,962,704 (GRCm38) missense probably benign 0.00
R8517:Myo7b UTSW 18 31,967,191 (GRCm38) missense possibly damaging 0.87
R8537:Myo7b UTSW 18 31,977,089 (GRCm38) missense probably benign 0.08
R8546:Myo7b UTSW 18 31,990,148 (GRCm38) missense probably benign 0.19
R8721:Myo7b UTSW 18 32,007,011 (GRCm38) missense probably damaging 1.00
R8770:Myo7b UTSW 18 31,981,071 (GRCm38) missense probably benign 0.03
R8841:Myo7b UTSW 18 31,964,437 (GRCm38) missense probably benign 0.06
R8853:Myo7b UTSW 18 31,986,691 (GRCm38) missense possibly damaging 0.67
R8960:Myo7b UTSW 18 31,994,246 (GRCm38) splice site probably benign
R8984:Myo7b UTSW 18 31,966,349 (GRCm38) missense probably null 0.68
R9356:Myo7b UTSW 18 31,977,043 (GRCm38) missense probably damaging 1.00
R9357:Myo7b UTSW 18 31,960,076 (GRCm38) missense probably damaging 1.00
R9364:Myo7b UTSW 18 32,000,360 (GRCm38) missense probably benign 0.12
R9405:Myo7b UTSW 18 31,976,303 (GRCm38) missense probably benign 0.00
R9533:Myo7b UTSW 18 31,975,244 (GRCm38) missense probably benign 0.27
R9776:Myo7b UTSW 18 32,000,015 (GRCm38) missense probably benign 0.45
X0027:Myo7b UTSW 18 31,965,636 (GRCm38) missense probably damaging 1.00
Z1176:Myo7b UTSW 18 31,980,998 (GRCm38) missense possibly damaging 0.82
Z1177:Myo7b UTSW 18 31,985,056 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCTAGGTGTCAAACTCAGCC -3'
(R):5'- ATGCAGCATCCCAGCATGTAG -3'

Sequencing Primer
(F):5'- GTGTCAAACTCAGCCCCTCG -3'
(R):5'- CATGTAGCTTGTCCTGGAATGAAG -3'
Posted On 2015-10-08