Incidental Mutation 'IGL03372:Myo7b'
ID 420347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo7b
Ensembl Gene ENSMUSG00000024388
Gene Name myosin VIIB
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03372
Quality Score
Status
Chromosome 18
Chromosomal Location 31959234-32036961 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31998601 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 514 (S514N)
Ref Sequence ENSEMBL: ENSMUSP00000118046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134663]
AlphaFold Q99MZ6
Predicted Effect probably damaging
Transcript: ENSMUST00000134663
AA Change: S514N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: S514N

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
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 130,017,569 A1161V probably benign Het
Alpi A G 1: 87,100,628 probably benign Het
Asxl1 A T 2: 153,400,413 N961I probably damaging Het
Bcl2l10 A G 9: 75,348,047 I49V probably benign Het
Bod1l T C 5: 41,805,235 probably benign Het
Ccl20 A G 1: 83,117,876 M54V probably benign Het
Cep72 A C 13: 74,043,518 L200V possibly damaging Het
Clic4 T C 4: 135,218,614 D164G probably damaging Het
Col5a3 G A 9: 20,775,328 P1334S unknown Het
Dab2 T C 15: 6,429,549 L293P probably damaging Het
Ddx50 A T 10: 62,643,330 S140T probably benign Het
Dnah6 A T 6: 73,075,850 M2897K probably benign Het
Dnmt3a A G 12: 3,902,666 E721G probably damaging Het
Esyt3 A T 9: 99,336,056 probably benign Het
Fat4 G T 3: 38,889,134 K725N possibly damaging Het
Fezf1 T C 6: 23,246,910 I308V probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gapdhs T C 7: 30,733,249 probably benign Het
Gm10109 A T 7: 44,221,702 probably benign Het
Gpd2 G A 2: 57,355,507 V405I probably damaging Het
Gtf2e1 T C 16: 37,535,715 probably benign Het
Iqca A G 1: 90,144,969 I63T possibly damaging Het
Kcmf1 A C 6: 72,849,563 L161R probably damaging Het
Kif19a G T 11: 114,779,218 V80L probably damaging Het
Kif21a A T 15: 90,956,376 M1179K probably benign Het
Krtap19-2 A G 16: 88,873,886 probably benign Het
Ksr2 T A 5: 117,702,718 I575N possibly damaging Het
L3mbtl1 A T 2: 162,971,157 probably benign Het
Larp1b A T 3: 41,024,527 H6L possibly damaging Het
Map4k2 T A 19: 6,342,249 probably benign Het
Mdh1b T C 1: 63,719,995 H146R possibly damaging Het
Morc2a T C 11: 3,681,813 probably benign Het
Mvd A G 8: 122,443,374 probably benign Het
Nav1 A T 1: 135,450,903 I1610K probably damaging Het
Nbas T C 12: 13,534,472 L2095P probably damaging Het
Nrros T C 16: 32,144,770 N115S probably damaging Het
Olfr472 T C 7: 107,903,370 Y218H probably damaging Het
Otud6b A C 4: 14,812,519 I276R possibly damaging Het
P2rx6 G A 16: 17,567,492 E150K probably damaging Het
Pan2 T A 10: 128,315,127 L771Q probably benign Het
Pbrm1 T A 14: 31,085,019 N1087K probably benign Het
Pcdhb5 G T 18: 37,320,660 R31L probably benign Het
Proser3 A C 7: 30,543,568 S195A probably damaging Het
Rad50 T C 11: 53,695,294 K292E probably benign Het
Rbm27 G A 18: 42,305,716 R394H probably damaging Het
Samd9l A G 6: 3,375,314 I649T probably damaging Het
Skint3 G A 4: 112,255,906 probably benign Het
Slc4a4 T A 5: 89,156,426 L576Q probably damaging Het
Snx2 A G 18: 53,216,391 D408G probably damaging Het
Taar2 T C 10: 23,941,171 V203A probably benign Het
Tdrd6 C T 17: 43,625,568 V1530M probably damaging Het
Tsc2 A C 17: 24,619,470 L515R probably damaging Het
Unc13a A T 8: 71,655,709 M500K probably damaging Het
Vmn1r75 A G 7: 11,880,569 D76G probably benign Het
Whrn T C 4: 63,418,618 D127G probably 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
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
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
Posted On 2016-08-02