Incidental Mutation 'R3078:Myo7b'
ID 265313
Institutional Source Beutler Lab
Gene Symbol Myo7b
Ensembl Gene ENSMUSG00000024388
Gene Name myosin VIIB
Synonyms
MMRRC Submission 040568-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3078 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 31959234-32036961 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31967184 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1599 (D1599G)
Ref Sequence ENSEMBL: ENSMUSP00000118046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000134663]
AlphaFold Q99MZ6
Predicted Effect probably benign
Transcript: ENSMUST00000134663
AA Change: D1599G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
AA Change: D1599G

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 93% (42/45)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931409K22Rik G C 5: 24,546,666 (GRCm38) T528S probably benign Het
Abca12 T C 1: 71,267,605 (GRCm38) I1981V probably benign Het
Actr3b A G 5: 25,822,442 (GRCm38) Y37C probably damaging Het
Adgrd1 A T 5: 129,129,105 (GRCm38) I248F probably benign Het
Alg10b T C 15: 90,227,936 (GRCm38) S328P probably benign Het
C5ar2 G A 7: 16,237,424 (GRCm38) R193C probably damaging Het
Cct8 A G 16: 87,488,877 (GRCm38) V231A possibly damaging Het
Clca4a C T 3: 144,968,253 (GRCm38) M240I probably damaging Het
Cmya5 A T 13: 93,048,927 (GRCm38) I3520N probably damaging Het
Dock6 G T 9: 21,845,754 (GRCm38) probably benign Het
Dynlrb1 T A 2: 155,249,945 (GRCm38) I99N probably damaging Het
Ebf4 G A 2: 130,306,499 (GRCm38) D77N probably damaging Het
Fam196a A G 7: 134,918,021 (GRCm38) I260T probably benign Het
Fbxw10 C T 11: 62,867,513 (GRCm38) probably benign Het
Gm10801 T C 2: 98,663,852 (GRCm38) I113T probably damaging Het
Gm14085 T C 2: 122,514,414 (GRCm38) L167P possibly damaging Het
Gm5499 T C 17: 87,078,886 (GRCm38) noncoding transcript Het
Gm9913 A G 2: 125,506,539 (GRCm38) probably benign Het
Herc2 A G 7: 56,137,243 (GRCm38) N1612S probably benign Het
Ifnar2 T C 16: 91,386,001 (GRCm38) S53P possibly damaging Het
Inpp5j T A 11: 3,503,124 (GRCm38) probably null Het
Kif14 T G 1: 136,519,645 (GRCm38) I1396S possibly damaging Het
Med28 A G 5: 45,522,478 (GRCm38) T68A possibly damaging Het
Meis1 A T 11: 19,011,254 (GRCm38) N206K probably benign Het
Mfsd14a T C 3: 116,647,917 (GRCm38) probably benign Het
Mnt G C 11: 74,843,110 (GRCm38) probably benign Het
Mto1 A G 9: 78,458,028 (GRCm38) Y413C probably damaging Het
Myoz1 T C 14: 20,653,617 (GRCm38) probably benign Het
Nhsl2 C T X: 102,077,595 (GRCm38) R62W probably damaging Het
Npr2 T A 4: 43,640,182 (GRCm38) Y306N probably damaging Het
Nrxn3 T G 12: 89,260,416 (GRCm38) C274G probably damaging Het
Olfr204 A T 16: 59,314,726 (GRCm38) M227K probably benign Het
Olfr389 G A 11: 73,776,640 (GRCm38) P229L possibly damaging Het
Phldb2 T C 16: 45,825,010 (GRCm38) T403A probably benign Het
Plaa T C 4: 94,569,805 (GRCm38) I643V probably benign Het
Stau1 T C 2: 166,955,016 (GRCm38) I154V possibly damaging Het
Ugcg T G 4: 59,213,922 (GRCm38) V168G probably damaging Het
Vmn2r2 T C 3: 64,134,632 (GRCm38) I221V probably benign Het
Wdr93 T C 7: 79,752,493 (GRCm38) I180T possibly damaging Het
Whamm G C 7: 81,571,784 (GRCm38) G155R probably damaging Het
Wnt5a T A 14: 28,513,183 (GRCm38) Y41* probably null 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
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'- GATAGTCTCTTTCTCCGGAGCC -3'
(R):5'- CCCTGTGTTCTGACTCACTGAG -3'

Sequencing Primer
(F):5'- AGCCCTGCCAGAGAAGG -3'
(R):5'- TCACTGAGAGAGCTAAATCAGAAGCC -3'
Posted On 2015-02-05