Incidental Mutation 'R0361:Myo7b'
ID 30149
Institutional Source Beutler Lab
Gene Symbol Myo7b
Ensembl Gene ENSMUSG00000024388
Gene Name myosin VIIB
Synonyms
MMRRC Submission 038567-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0361 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 32092287-32169984 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32147262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 94 (I94F)
Ref Sequence ENSEMBL: ENSMUSP00000118046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134663]
AlphaFold Q99MZ6
Predicted Effect probably damaging
Transcript: ENSMUST00000134663
AA Change: I94F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: I94F

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 0.4971 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency 100% (1/1)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T G 3: 124,207,283 (GRCm39) T303P possibly damaging Het
1700010I14Rik G T 17: 9,211,378 (GRCm39) V176L probably benign Het
1700034J05Rik T C 6: 146,853,869 (GRCm39) T262A possibly damaging Het
Adgrl3 A T 5: 81,908,544 (GRCm39) I1165F probably damaging Het
Ankhd1 T C 18: 36,780,267 (GRCm39) I1773T probably damaging Het
Api5 A T 2: 94,253,842 (GRCm39) L287* probably null Het
Apol10b A T 15: 77,469,586 (GRCm39) M197K possibly damaging Het
Bcl2 G A 1: 106,640,424 (GRCm39) R63W probably damaging Het
Cacna1h A G 17: 25,608,396 (GRCm39) M731T probably damaging Het
Cav1 C A 6: 17,339,352 (GRCm39) R146S possibly damaging Het
Cdhr2 A T 13: 54,881,820 (GRCm39) I1118F probably damaging Het
Cdk7 A T 13: 100,848,062 (GRCm39) Y153* probably null Het
Cemip A G 7: 83,613,218 (GRCm39) I660T probably benign Het
Cfap65 A T 1: 74,964,599 (GRCm39) L518Q probably damaging Het
Cgas T A 9: 78,340,534 (GRCm39) K399N probably damaging Het
Cngb3 A G 4: 19,366,467 (GRCm39) H176R probably benign Het
Cstdc4 T C 16: 36,004,648 (GRCm39) S7P probably damaging Het
Cux1 T A 5: 136,308,351 (GRCm39) I1263F probably damaging Het
Dnajc13 A G 9: 104,044,258 (GRCm39) M1867T probably benign Het
Dock2 A G 11: 34,388,327 (GRCm39) L202P probably damaging Het
Dyrk3 A G 1: 131,057,769 (GRCm39) S100P probably benign Het
Efr3b A T 12: 4,027,923 (GRCm39) S376T probably benign Het
Eps8l2 A C 7: 140,936,112 (GRCm39) N222T probably benign Het
Ermp1 A T 19: 29,608,806 (GRCm39) Y158N probably damaging Het
Fam13a A G 6: 58,964,159 (GRCm39) V91A probably benign Het
Fat3 A G 9: 15,909,699 (GRCm39) V2101A possibly damaging Het
Fsip2 T C 2: 82,805,849 (GRCm39) S723P possibly damaging Het
Garem1 G T 18: 21,432,801 (GRCm39) C9* probably null Het
Gdpd5 A G 7: 99,107,997 (GRCm39) I530V possibly damaging Het
Gm15217 T A 14: 46,617,841 (GRCm39) probably benign Het
Gm4922 T C 10: 18,659,289 (GRCm39) T478A probably benign Het
H2-M5 A G 17: 37,298,328 (GRCm39) I329T possibly damaging Het
Ing4 G A 6: 125,024,857 (GRCm39) C200Y probably damaging Het
Kcnip1 A T 11: 33,793,177 (GRCm39) M5K probably benign Het
Kdsr T C 1: 106,675,517 (GRCm39) E102G probably damaging Het
Krt15 C T 11: 100,024,007 (GRCm39) V346M probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lrrc55 A T 2: 85,026,589 (GRCm39) M145K probably damaging Het
Lrrtm2 A G 18: 35,345,985 (GRCm39) I439T probably benign Het
Map2k6 T C 11: 110,390,335 (GRCm39) F290L probably damaging Het
Me1 T A 9: 86,533,055 (GRCm39) I136F probably damaging Het
Mfap2 A G 4: 140,742,294 (GRCm39) D98G probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mst1 T C 9: 107,962,096 (GRCm39) F696L probably damaging Het
Mta1 A G 12: 113,096,961 (GRCm39) probably null Het
Myh15 A T 16: 48,934,368 (GRCm39) N645I probably benign Het
Nefh A T 11: 4,890,799 (GRCm39) S607T probably benign Het
Noa1 G A 5: 77,445,020 (GRCm39) Q600* probably null Het
Nr2f2 A G 7: 70,007,810 (GRCm39) V71A possibly damaging Het
Oas2 A T 5: 120,876,466 (GRCm39) F492L probably damaging Het
Olfm3 T A 3: 114,914,622 (GRCm39) D211E probably damaging Het
Or2y17 A T 11: 49,231,641 (GRCm39) Y94F probably benign Het
Osmr A G 15: 6,871,432 (GRCm39) probably null Het
Plagl2 A T 2: 153,073,523 (GRCm39) D459E probably benign Het
Plch2 T C 4: 155,091,168 (GRCm39) D148G possibly damaging Het
Plxnc1 C A 10: 94,700,869 (GRCm39) C605F probably damaging Het
Ppm1m T C 9: 106,075,325 (GRCm39) E108G probably damaging Het
Prr14l A C 5: 32,950,985 (GRCm39) L1936R probably damaging Het
Ralgapa1 A G 12: 55,723,354 (GRCm39) I1771T possibly damaging Het
Rhobtb2 T C 14: 70,033,357 (GRCm39) T538A probably benign Het
Rictor A G 15: 6,813,588 (GRCm39) N1025D possibly damaging Het
Sec23a T G 12: 59,037,804 (GRCm39) D324A probably damaging Het
Srgap1 A T 10: 121,883,097 (GRCm39) M1K probably null Het
Syne2 T A 12: 75,965,384 (GRCm39) F801I probably benign Het
Synrg T A 11: 83,915,163 (GRCm39) probably null Het
Tas2r140 T G 6: 40,468,232 (GRCm39) F21V probably benign Het
Tmem260 A T 14: 48,689,504 (GRCm39) T108S possibly damaging Het
Trim2 T C 3: 84,098,083 (GRCm39) Y406C probably damaging Het
Ttn T C 2: 76,673,746 (GRCm39) probably benign Het
Vmn1r53 A T 6: 90,201,064 (GRCm39) S87T possibly damaging Het
Vmn2r115 T A 17: 23,564,196 (GRCm39) Y123N probably benign Het
Vmn2r28 T A 7: 5,496,715 (GRCm39) I46F probably benign Het
Zan T C 5: 137,395,028 (GRCm39) T4381A unknown Het
Zfp457 A G 13: 67,440,710 (GRCm39) F622L probably damaging Het
Zfp994 A T 17: 22,419,091 (GRCm39) N619K probably benign Het
Zfy1 T C Y: 726,121 (GRCm39) H548R possibly damaging Het
Zmym4 A T 4: 126,804,938 (GRCm39) S441T probably benign Het
Other mutations in Myo7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Myo7b APN 18 32,154,609 (GRCm39) utr 5 prime probably benign
IGL01799:Myo7b APN 18 32,095,823 (GRCm39) missense probably damaging 1.00
IGL01881:Myo7b APN 18 32,133,320 (GRCm39) splice site probably benign
IGL01883:Myo7b APN 18 32,131,204 (GRCm39) missense probably damaging 1.00
IGL01934:Myo7b APN 18 32,134,394 (GRCm39) critical splice donor site probably null
IGL01980:Myo7b APN 18 32,094,953 (GRCm39) missense possibly damaging 0.86
IGL02506:Myo7b APN 18 32,100,207 (GRCm39) missense probably damaging 1.00
IGL02704:Myo7b APN 18 32,100,014 (GRCm39) missense probably benign 0.13
IGL02929:Myo7b APN 18 32,127,978 (GRCm39) missense probably benign 0.19
IGL03149:Myo7b APN 18 32,147,355 (GRCm39) missense probably damaging 1.00
IGL03335:Myo7b APN 18 32,118,073 (GRCm39) missense possibly damaging 0.81
IGL03372:Myo7b APN 18 32,131,654 (GRCm39) missense probably damaging 1.00
IGL03385:Myo7b APN 18 32,122,630 (GRCm39) missense probably benign 0.00
PIT4131001:Myo7b UTSW 18 32,094,259 (GRCm39) missense probably benign 0.17
PIT4445001:Myo7b UTSW 18 32,095,405 (GRCm39) missense probably damaging 0.96
PIT4445001:Myo7b UTSW 18 32,092,519 (GRCm39) missense possibly damaging 0.80
R0034:Myo7b UTSW 18 32,093,913 (GRCm39) missense probably damaging 1.00
R0138:Myo7b UTSW 18 32,143,204 (GRCm39) missense probably damaging 1.00
R0149:Myo7b UTSW 18 32,147,262 (GRCm39) missense probably damaging 1.00
R0226:Myo7b UTSW 18 32,105,949 (GRCm39) missense probably benign 0.00
R0312:Myo7b UTSW 18 32,147,390 (GRCm39) missense possibly damaging 0.68
R0506:Myo7b UTSW 18 32,097,439 (GRCm39) critical splice donor site probably null
R0524:Myo7b UTSW 18 32,146,477 (GRCm39) missense possibly damaging 0.91
R0645:Myo7b UTSW 18 32,127,962 (GRCm39) missense probably benign 0.10
R0724:Myo7b UTSW 18 32,138,602 (GRCm39) splice site probably benign
R0731:Myo7b UTSW 18 32,094,878 (GRCm39) splice site probably null
R0762:Myo7b UTSW 18 32,116,997 (GRCm39) missense probably benign 0.01
R0843:Myo7b UTSW 18 32,107,137 (GRCm39) missense possibly damaging 0.83
R0894:Myo7b UTSW 18 32,133,123 (GRCm39) missense probably damaging 1.00
R0966:Myo7b UTSW 18 32,131,816 (GRCm39) missense probably damaging 1.00
R1205:Myo7b UTSW 18 32,127,395 (GRCm39) missense probably damaging 1.00
R1387:Myo7b UTSW 18 32,116,805 (GRCm39) splice site probably benign
R1523:Myo7b UTSW 18 32,099,929 (GRCm39) missense probably damaging 1.00
R1544:Myo7b UTSW 18 32,127,962 (GRCm39) missense probably benign 0.10
R1623:Myo7b UTSW 18 32,133,104 (GRCm39) missense probably damaging 1.00
R1780:Myo7b UTSW 18 32,094,238 (GRCm39) missense probably damaging 1.00
R1785:Myo7b UTSW 18 32,127,950 (GRCm39) missense probably benign
R1786:Myo7b UTSW 18 32,127,950 (GRCm39) missense probably benign
R1796:Myo7b UTSW 18 32,119,728 (GRCm39) missense possibly damaging 0.93
R1907:Myo7b UTSW 18 32,110,052 (GRCm39) missense possibly damaging 0.89
R2027:Myo7b UTSW 18 32,118,013 (GRCm39) missense probably benign
R2102:Myo7b UTSW 18 32,133,031 (GRCm39) missense probably damaging 1.00
R2174:Myo7b UTSW 18 32,116,610 (GRCm39) missense probably damaging 1.00
R2272:Myo7b UTSW 18 32,110,096 (GRCm39) missense probably benign 0.41
R2323:Myo7b UTSW 18 32,104,398 (GRCm39) missense probably damaging 1.00
R2365:Myo7b UTSW 18 32,147,384 (GRCm39) missense probably damaging 0.98
R3078:Myo7b UTSW 18 32,100,237 (GRCm39) missense probably benign 0.04
R3522:Myo7b UTSW 18 32,143,132 (GRCm39) missense probably damaging 1.00
R3788:Myo7b UTSW 18 32,107,165 (GRCm39) missense possibly damaging 0.95
R3880:Myo7b UTSW 18 32,102,567 (GRCm39) missense probably damaging 0.96
R4334:Myo7b UTSW 18 32,110,040 (GRCm39) missense probably damaging 1.00
R4343:Myo7b UTSW 18 32,116,680 (GRCm39) missense probably damaging 1.00
R4497:Myo7b UTSW 18 32,147,282 (GRCm39) missense probably benign 0.06
R4498:Myo7b UTSW 18 32,147,282 (GRCm39) missense probably benign 0.06
R4551:Myo7b UTSW 18 32,118,161 (GRCm39) missense probably benign 0.01
R4593:Myo7b UTSW 18 32,146,428 (GRCm39) missense possibly damaging 0.77
R4616:Myo7b UTSW 18 32,136,540 (GRCm39) splice site probably null
R4646:Myo7b UTSW 18 32,127,422 (GRCm39) missense probably benign 0.25
R4648:Myo7b UTSW 18 32,100,178 (GRCm39) splice site probably null
R4737:Myo7b UTSW 18 32,131,655 (GRCm39) missense probably damaging 1.00
R4765:Myo7b UTSW 18 32,094,953 (GRCm39) missense probably benign 0.00
R4790:Myo7b UTSW 18 32,133,158 (GRCm39) splice site probably null
R4909:Myo7b UTSW 18 32,097,489 (GRCm39) missense probably benign 0.01
R5027:Myo7b UTSW 18 32,108,265 (GRCm39) missense probably benign 0.22
R5034:Myo7b UTSW 18 32,104,440 (GRCm39) missense probably damaging 1.00
R5112:Myo7b UTSW 18 32,116,640 (GRCm39) missense probably damaging 1.00
R5266:Myo7b UTSW 18 32,131,787 (GRCm39) missense probably damaging 1.00
R5267:Myo7b UTSW 18 32,131,787 (GRCm39) missense probably damaging 1.00
R5348:Myo7b UTSW 18 32,116,972 (GRCm39) missense probably damaging 0.96
R5457:Myo7b UTSW 18 32,104,503 (GRCm39) splice site probably null
R5540:Myo7b UTSW 18 32,140,143 (GRCm39) missense probably damaging 1.00
R5628:Myo7b UTSW 18 32,107,240 (GRCm39) missense probably benign
R5815:Myo7b UTSW 18 32,099,341 (GRCm39) missense probably damaging 1.00
R6062:Myo7b UTSW 18 32,101,043 (GRCm39) missense possibly damaging 0.94
R6137:Myo7b UTSW 18 32,133,027 (GRCm39) missense probably damaging 1.00
R6158:Myo7b UTSW 18 32,121,602 (GRCm39) missense probably benign 0.00
R6218:Myo7b UTSW 18 32,092,507 (GRCm39) missense probably benign 0.10
R6256:Myo7b UTSW 18 32,116,748 (GRCm39) missense probably damaging 1.00
R6257:Myo7b UTSW 18 32,146,468 (GRCm39) missense probably damaging 1.00
R6265:Myo7b UTSW 18 32,131,203 (GRCm39) missense probably damaging 1.00
R6302:Myo7b UTSW 18 32,127,439 (GRCm39) missense probably damaging 0.98
R6438:Myo7b UTSW 18 32,099,382 (GRCm39) missense probably damaging 1.00
R6654:Myo7b UTSW 18 32,123,322 (GRCm39) missense possibly damaging 0.46
R7030:Myo7b UTSW 18 32,104,626 (GRCm39) missense probably damaging 1.00
R7090:Myo7b UTSW 18 32,131,765 (GRCm39) missense probably damaging 1.00
R7210:Myo7b UTSW 18 32,140,155 (GRCm39) missense probably damaging 1.00
R7218:Myo7b UTSW 18 32,114,054 (GRCm39) missense probably benign 0.05
R7378:Myo7b UTSW 18 32,099,292 (GRCm39) missense probably damaging 1.00
R7458:Myo7b UTSW 18 32,121,604 (GRCm39) missense possibly damaging 0.89
R7517:Myo7b UTSW 18 32,146,320 (GRCm39) missense probably damaging 0.99
R7559:Myo7b UTSW 18 32,116,413 (GRCm39) missense probably benign 0.01
R7667:Myo7b UTSW 18 32,094,958 (GRCm39) missense probably benign
R7737:Myo7b UTSW 18 32,147,257 (GRCm39) nonsense probably null
R7942:Myo7b UTSW 18 32,146,422 (GRCm39) missense probably damaging 0.98
R8030:Myo7b UTSW 18 32,131,135 (GRCm39) missense probably damaging 0.96
R8114:Myo7b UTSW 18 32,098,677 (GRCm39) missense probably damaging 1.00
R8338:Myo7b UTSW 18 32,104,408 (GRCm39) missense probably damaging 0.96
R8341:Myo7b UTSW 18 32,116,979 (GRCm39) missense probably benign 0.39
R8406:Myo7b UTSW 18 32,092,866 (GRCm39) missense probably damaging 1.00
R8464:Myo7b UTSW 18 32,095,757 (GRCm39) missense probably benign 0.00
R8517:Myo7b UTSW 18 32,100,244 (GRCm39) missense possibly damaging 0.87
R8537:Myo7b UTSW 18 32,110,142 (GRCm39) missense probably benign 0.08
R8546:Myo7b UTSW 18 32,123,201 (GRCm39) missense probably benign 0.19
R8721:Myo7b UTSW 18 32,140,064 (GRCm39) missense probably damaging 1.00
R8770:Myo7b UTSW 18 32,114,124 (GRCm39) missense probably benign 0.03
R8841:Myo7b UTSW 18 32,097,490 (GRCm39) missense probably benign 0.06
R8853:Myo7b UTSW 18 32,119,744 (GRCm39) missense possibly damaging 0.67
R8960:Myo7b UTSW 18 32,127,299 (GRCm39) splice site probably benign
R8984:Myo7b UTSW 18 32,099,402 (GRCm39) missense probably null 0.68
R9356:Myo7b UTSW 18 32,110,096 (GRCm39) missense probably damaging 1.00
R9357:Myo7b UTSW 18 32,093,129 (GRCm39) missense probably damaging 1.00
R9364:Myo7b UTSW 18 32,133,413 (GRCm39) missense probably benign 0.12
R9405:Myo7b UTSW 18 32,109,356 (GRCm39) missense probably benign 0.00
R9533:Myo7b UTSW 18 32,108,297 (GRCm39) missense probably benign 0.27
R9776:Myo7b UTSW 18 32,133,068 (GRCm39) missense probably benign 0.45
X0027:Myo7b UTSW 18 32,098,689 (GRCm39) missense probably damaging 1.00
Z1176:Myo7b UTSW 18 32,114,051 (GRCm39) missense possibly damaging 0.82
Z1177:Myo7b UTSW 18 32,118,109 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGGTTGCCCAGCACAAAGAG -3'
(R):5'- GTATCCTGTGACGCAGACCAAGAG -3'

Sequencing Primer
(F):5'- gccagcacttattgactatctac -3'
(R):5'- GCGCATCTTAGACCTGAGAATG -3'
Posted On 2013-04-24