Incidental Mutation 'R0894:Myo7b'
ID 83723
Institutional Source Beutler Lab
Gene Symbol Myo7b
Ensembl Gene ENSMUSG00000024388
Gene Name myosin VIIB
Synonyms
MMRRC Submission 039057-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0894 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 31959234-32036961 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32000070 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 409 (W409R)
Ref Sequence ENSEMBL: ENSMUSP00000118046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134663]
AlphaFold Q99MZ6
Predicted Effect probably damaging
Transcript: ENSMUST00000134663
AA Change: W409R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: W409R

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
Meta Mutation Damage Score 0.6568 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 97% (102/105)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019N19Rik A T 19: 58,787,583 (GRCm38) L138Q probably damaging Het
1700028P14Rik T C 19: 23,652,698 (GRCm38) E10G unknown Het
1700029J07Rik A G 8: 45,956,460 (GRCm38) F274S probably damaging Het
2210408I21Rik A G 13: 77,323,607 (GRCm38) S1044G probably benign Het
4930578C19Rik T A X: 18,423,552 (GRCm38) I224F possibly damaging Het
4931409K22Rik T C 5: 24,550,733 (GRCm38) probably null Het
9930021J03Rik T C 19: 29,720,574 (GRCm38) probably benign Het
Aanat A G 11: 116,596,904 (GRCm38) H143R probably benign Het
Abca8a A G 11: 110,050,966 (GRCm38) I1159T probably benign Het
Abcb1a G T 5: 8,674,856 (GRCm38) probably benign Het
Abcc1 T C 16: 14,465,137 (GRCm38) V1159A possibly damaging Het
Akr1e1 T A 13: 4,595,072 (GRCm38) Q204L probably damaging Het
Alk T C 17: 71,895,935 (GRCm38) Y1135C probably damaging Het
Atad2b C T 12: 4,965,915 (GRCm38) T547I probably damaging Het
C030005K15Rik A T 10: 97,725,786 (GRCm38) S28T unknown Het
Cdk5rap3 A G 11: 96,908,828 (GRCm38) L387P probably damaging Het
Clec4f T A 6: 83,652,997 (GRCm38) N193I probably damaging Het
Col4a4 A T 1: 82,529,656 (GRCm38) probably null Het
Cplx4 T G 18: 65,957,045 (GRCm38) D101A possibly damaging Het
Cpne8 A T 15: 90,649,271 (GRCm38) D50E probably damaging Het
Csmd3 G T 15: 47,857,920 (GRCm38) D1542E possibly damaging Het
Ctdp1 A G 18: 80,469,521 (GRCm38) V9A probably benign Het
Ctnnd2 A T 15: 30,332,155 (GRCm38) probably benign Het
Cyp7b1 C T 3: 18,097,510 (GRCm38) A180T probably benign Het
D3Ertd254e T A 3: 36,164,786 (GRCm38) Y319* probably null Het
Dcun1d5 C T 9: 7,203,379 (GRCm38) probably benign Het
Dgat1 G T 15: 76,502,999 (GRCm38) L363I possibly damaging Het
Dlg1 T A 16: 31,743,147 (GRCm38) H120Q probably benign Het
Dnah6 T C 6: 73,124,757 (GRCm38) N1928S probably benign Het
Dync2h1 A T 9: 7,041,734 (GRCm38) probably benign Het
Ednra T G 8: 77,720,020 (GRCm38) probably benign Het
Efcab6 A T 15: 83,918,292 (GRCm38) C845S probably benign Het
Egln1 A T 8: 124,915,696 (GRCm38) C303S probably damaging Het
Eomes T C 9: 118,482,300 (GRCm38) probably null Het
Epha1 A G 6: 42,363,822 (GRCm38) V568A probably benign Het
Ercc6 T A 14: 32,517,028 (GRCm38) N24K probably benign Het
Esco2 T C 14: 65,827,277 (GRCm38) Q338R probably benign Het
Fbxo46 T C 7: 19,135,729 (GRCm38) V91A probably damaging Het
Fryl A T 5: 73,041,332 (GRCm38) probably benign Het
Gab3 A C X: 75,033,418 (GRCm38) D43E probably damaging Het
Gltpd2 T A 11: 70,519,709 (GRCm38) probably benign Het
Gm17333 G T 16: 77,852,823 (GRCm38) noncoding transcript Het
Gm7353 T C 7: 3,110,570 (GRCm38) noncoding transcript Het
Grik4 T C 9: 42,688,109 (GRCm38) probably benign Het
Gtpbp2 G T 17: 46,165,969 (GRCm38) A358S possibly damaging Het
Hyls1 C T 9: 35,561,232 (GRCm38) C296Y probably damaging Het
Igf2r C T 17: 12,692,101 (GRCm38) M1943I probably benign Het
Ireb2 T A 9: 54,896,577 (GRCm38) N517K probably damaging Het
Itga10 A G 3: 96,653,660 (GRCm38) S614G possibly damaging Het
Kdm2b A G 5: 122,984,460 (GRCm38) probably null Het
Kif17 T C 4: 138,298,231 (GRCm38) M948T possibly damaging Het
Klhl33 A T 14: 50,892,126 (GRCm38) N347K probably damaging Het
Llph T A 10: 120,228,181 (GRCm38) C67* probably null Het
Lrrn3 T C 12: 41,454,034 (GRCm38) T95A probably damaging Het
Map3k12 C A 15: 102,502,178 (GRCm38) A455S probably damaging Het
Mex3d T C 10: 80,381,542 (GRCm38) T149A probably benign Het
Nbea A G 3: 56,009,340 (GRCm38) M833T possibly damaging Het
Ncapg A G 5: 45,679,894 (GRCm38) T436A probably null Het
Nkx1-2 C A 7: 132,599,313 (GRCm38) D72Y probably null Het
Olfr1532-ps1 T A 7: 106,915,110 (GRCm38) I304K probably benign Het
Olfr743 T C 14: 50,533,702 (GRCm38) S97P possibly damaging Het
Olfr815 T A 10: 129,901,882 (GRCm38) N276I probably damaging Het
Pcdh15 A G 10: 74,624,255 (GRCm38) Y1308C probably damaging Het
Pcnx2 A G 8: 125,886,926 (GRCm38) probably benign Het
Pcsk1 G A 13: 75,097,977 (GRCm38) G158D probably damaging Het
Phkb A T 8: 86,017,441 (GRCm38) D573V probably damaging Het
Pik3r4 A G 9: 105,667,771 (GRCm38) K150E possibly damaging Het
Ppp2r5e C G 12: 75,469,567 (GRCm38) A239P probably damaging Het
Ppp4r4 C T 12: 103,600,495 (GRCm38) A67V probably damaging Het
Prex2 A G 1: 11,181,898 (GRCm38) T1056A probably benign Het
Prkca A T 11: 108,012,692 (GRCm38) Y285N possibly damaging Het
Psd T C 19: 46,313,441 (GRCm38) E903G probably damaging Het
Psg19 T C 7: 18,794,062 (GRCm38) E252G probably benign Het
Psg20 T A 7: 18,681,044 (GRCm38) K306* probably null Het
Pygl T G 12: 70,194,374 (GRCm38) probably benign Het
Rasgrf2 A G 13: 91,982,771 (GRCm38) S724P probably damaging Het
Reck C A 4: 43,922,967 (GRCm38) A414D probably damaging Het
Scn10a C A 9: 119,630,147 (GRCm38) V1150L probably damaging Het
Shc2 A T 10: 79,629,917 (GRCm38) I187N probably damaging Het
Sipa1l3 T A 7: 29,387,291 (GRCm38) K625* probably null Het
Slc44a4 T C 17: 34,928,490 (GRCm38) L583P possibly damaging Het
Slc5a11 G C 7: 123,258,420 (GRCm38) R244P possibly damaging Het
Slfn8 T A 11: 83,003,581 (GRCm38) Q744L probably benign Het
Snx2 G T 18: 53,176,416 (GRCm38) V13L probably benign Het
Spsb1 C T 4: 149,906,415 (GRCm38) probably null Het
Stfa2l1 A T 16: 36,156,858 (GRCm38) I8L probably benign Het
Svil G T 18: 5,097,494 (GRCm38) R1659L probably damaging Het
Tbccd1 A T 16: 22,822,245 (GRCm38) L461M probably benign Het
Tmem9 A T 1: 136,034,188 (GRCm38) T174S possibly damaging Het
Tnks2 T C 19: 36,890,050 (GRCm38) probably null Het
Tnrc18 C A 5: 142,815,114 (GRCm38) V30L probably benign Het
Tomm7 A G 5: 23,844,027 (GRCm38) F16S probably damaging Het
Ttf2 A G 3: 100,969,549 (GRCm38) probably benign Het
Ubr7 C A 12: 102,769,191 (GRCm38) T303N probably damaging Het
Ushbp1 A T 8: 71,390,224 (GRCm38) probably null Het
Vmn1r177 C A 7: 23,866,050 (GRCm38) V134F probably benign Het
Vmn2r12 A G 5: 109,087,850 (GRCm38) probably null Het
Vmn2r53 T G 7: 12,601,214 (GRCm38) H173P probably benign Het
Wdr78 T C 4: 103,049,386 (GRCm38) probably benign Het
Yars A T 4: 129,197,155 (GRCm38) M119L probably damaging Het
Zcrb1 A T 15: 93,397,157 (GRCm38) probably benign Het
Zfp319 C A 8: 95,329,622 (GRCm38) probably benign Het
Zfp783 C G 6: 47,943,386 (GRCm38) noncoding transcript Het
Zfyve26 A G 12: 79,273,598 (GRCm38) I1024T possibly damaging 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
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
R4646:Myo7b UTSW 18 31,994,369 (GRCm38) missense probably benign 0.25
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'- AGCTTGGTCAGAATCACTGCTCATC -3'
(R):5'- TGCCTTTGTCAAGGTACAAATCCACAG -3'

Sequencing Primer
(F):5'- gccactgtttttacttcccc -3'
(R):5'- TCCACAGAGCAGGGCAG -3'
Posted On 2013-11-08