Incidental Mutation 'R7737:Myo7b'
ID 596349
Institutional Source Beutler Lab
Gene Symbol Myo7b
Ensembl Gene ENSMUSG00000024388
Gene Name myosin VIIB
Synonyms
MMRRC Submission 045793-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7737 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 31959234-32036961 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 32014204 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 95 (Y95*)
Ref Sequence ENSEMBL: ENSMUSP00000118046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134663]
AlphaFold Q99MZ6
Predicted Effect probably null
Transcript: ENSMUST00000134663
AA Change: Y95*
SMART Domains Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: Y95*

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410141K09Rik A G 13: 66,433,677 (GRCm38) probably null Het
9530053A07Rik T A 7: 28,157,073 (GRCm38) V2095E probably damaging Het
Adamts18 A T 8: 113,736,934 (GRCm38) probably null Het
Akap3 T A 6: 126,874,102 (GRCm38) M861K probably damaging Het
Ankrd42 T C 7: 92,605,262 (GRCm38) T380A possibly damaging Het
Arhgef5 A G 6: 43,273,794 (GRCm38) E493G possibly damaging Het
Armc4 A G 18: 7,217,890 (GRCm38) L608P probably damaging Het
Arvcf G A 16: 18,397,101 (GRCm38) R119Q probably damaging Het
Asmt T C X: 170,676,440 (GRCm38) F228S probably damaging Het
Atp2c2 T A 8: 119,742,395 (GRCm38) V349E probably damaging Het
BC034090 A G 1: 155,241,673 (GRCm38) V233A possibly damaging Het
Brinp3 G T 1: 146,682,594 (GRCm38) K85N probably damaging Het
Ccr6 G A 17: 8,245,094 (GRCm38) probably benign Het
D7Ertd443e A G 7: 134,270,201 (GRCm38) S644P probably damaging Het
Ddb1 C T 19: 10,625,974 (GRCm38) A882V possibly damaging Het
Epha4 C T 1: 77,381,012 (GRCm38) G783D probably damaging Het
Ephb1 T A 9: 101,984,103 (GRCm38) I621F probably damaging Het
Fbxw18 G T 9: 109,701,263 (GRCm38) Y93* probably null Het
Gak A C 5: 108,617,008 (GRCm38) L84R probably benign Het
Gm21671 AACT A 5: 25,950,851 (GRCm38) probably benign Het
Gm5458 A T 14: 19,599,737 (GRCm38) probably null Het
Gpatch3 C G 4: 133,575,096 (GRCm38) Q113E probably benign Het
Gpld1 C A 13: 24,975,726 (GRCm38) L426M probably damaging Het
Ighmbp2 G A 19: 3,274,467 (GRCm38) P234S unknown Het
Itga6 G A 2: 71,822,443 (GRCm38) V217I probably benign Het
Kdm7a A T 6: 39,144,404 (GRCm38) N872K probably benign Het
Klhl14 G T 18: 21,558,134 (GRCm38) Y446* probably null Het
Larp4b T A 13: 9,170,643 (GRCm38) probably null Het
Lct A T 1: 128,298,693 (GRCm38) W1320R probably benign Het
Lrp2 T C 2: 69,496,438 (GRCm38) D1763G possibly damaging Het
Lrrk2 A T 15: 91,815,446 (GRCm38) N2499Y probably damaging Het
Lsg1 T C 16: 30,581,185 (GRCm38) probably null Het
Mettl15 T C 2: 109,137,378 (GRCm38) K188E probably damaging Het
Mfsd4b1 A G 10: 40,003,278 (GRCm38) S208P probably damaging Het
Mlxipl T C 5: 135,135,381 (GRCm38) S793P possibly damaging Het
Ms4a14 G A 19: 11,302,786 (GRCm38) Q803* probably null Het
Mtor A C 4: 148,538,738 (GRCm38) E2015A possibly damaging Het
Myo15b A T 11: 115,887,923 (GRCm38) Y2581F unknown Het
Nf1 A G 11: 79,545,488 (GRCm38) I1985V probably benign Het
Noxred1 G A 12: 87,221,362 (GRCm38) Q332* probably null Het
Nudt21 A T 8: 94,022,833 (GRCm38) Y202N probably damaging Het
Olfr345 A T 2: 36,640,620 (GRCm38) I194F probably benign Het
Pik3c2a A T 7: 116,356,253 (GRCm38) S1176T probably damaging Het
Pramef17 A C 4: 143,991,956 (GRCm38) S306A possibly damaging Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,457,541 (GRCm38) probably benign Het
Rbmxl1 A G 8: 78,505,623 (GRCm38) S364P unknown Het
Rnf24 T A 2: 131,303,496 (GRCm38) K131N probably benign Het
Scai T A 2: 39,123,022 (GRCm38) Q132L probably damaging Het
Sh3tc1 T C 5: 35,723,953 (GRCm38) R49G probably benign Het
Slc12a7 A G 13: 73,788,677 (GRCm38) E152G probably benign Het
Slc22a27 A T 19: 7,896,762 (GRCm38) M316K probably damaging Het
Spag1 G T 15: 36,210,710 (GRCm38) A427S probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm38) probably benign Het
Stk16 G T 1: 75,211,351 (GRCm38) C8F probably damaging Het
Syne2 T C 12: 75,942,848 (GRCm38) C1834R probably damaging Het
Tie1 C T 4: 118,478,857 (GRCm38) probably null Het
Timp2 A G 11: 118,303,895 (GRCm38) I156T probably damaging Het
Tmem163 A G 1: 127,491,610 (GRCm38) M286T possibly damaging Het
Tmx4 T A 2: 134,639,668 (GRCm38) M112L probably benign Het
Trank1 G T 9: 111,366,012 (GRCm38) E1035* probably null Het
Trim5 C T 7: 104,279,564 (GRCm38) V57M probably damaging Het
Ubr3 A G 2: 69,991,566 (GRCm38) S1391G probably benign Het
Vmn1r72 A T 7: 11,669,707 (GRCm38) S271R probably damaging Het
Xpo5 G A 17: 46,236,090 (GRCm38) probably null Het
Zfp592 A T 7: 81,025,193 (GRCm38) H635L probably damaging Het
Zfp791 A T 8: 85,112,215 (GRCm38) N62K probably benign Het
Zmynd11 G A 13: 9,695,139 (GRCm38) T248M 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
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
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
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'- GCTCCTAGAATATGATATCCCAGC -3'
(R):5'- GTGACTGTCATTCCAGGAACAC -3'

Sequencing Primer
(F):5'- CAGGCTAGTCTCGAACTCATGTAG -3'
(R):5'- AACACTGGGTCCATGCAG -3'
Posted On 2019-11-26