Incidental Mutation 'R6455:Myo7a'
ID 519546
Institutional Source Beutler Lab
Gene Symbol Myo7a
Ensembl Gene ENSMUSG00000030761
Gene Name myosin VIIA
Synonyms nmf371, USH1B, polka, Hdb, Myo7
MMRRC Submission 044591-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6455 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 97700267-97768731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 97722374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1184 (V1184M)
Ref Sequence ENSEMBL: ENSMUSP00000146165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084979] [ENSMUST00000107122] [ENSMUST00000107127] [ENSMUST00000107128] [ENSMUST00000156992] [ENSMUST00000205746]
AlphaFold P97479
Predicted Effect probably benign
Transcript: ENSMUST00000084979
AA Change: V1184M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
AA Change: V1184M

DomainStartEndE-ValueType
MYSc 48 731 N/A SMART
IQ 732 754 2.99e0 SMART
IQ 755 777 8.77e-7 SMART
IQ 801 823 8e0 SMART
IQ 824 846 8.7e0 SMART
low complexity region 854 889 N/A INTRINSIC
low complexity region 893 916 N/A INTRINSIC
low complexity region 972 985 N/A INTRINSIC
MyTH4 1006 1242 1.4e-71 SMART
B41 1243 1458 8.82e-42 SMART
SH3 1557 1622 4.93e-7 SMART
MyTH4 1698 1847 3.95e-57 SMART
B41 1849 2066 8.27e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107122
AA Change: V1190M

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
AA Change: V1190M

DomainStartEndE-ValueType
MYSc 48 737 N/A SMART
IQ 738 760 2.99e0 SMART
IQ 761 783 8.77e-7 SMART
IQ 807 829 8e0 SMART
IQ 830 852 8.7e0 SMART
low complexity region 860 895 N/A INTRINSIC
low complexity region 899 922 N/A INTRINSIC
low complexity region 978 991 N/A INTRINSIC
MyTH4 1012 1248 1.4e-71 SMART
B41 1249 1464 8.82e-42 SMART
SH3 1563 1628 4.93e-7 SMART
MyTH4 1704 1853 3.95e-57 SMART
B41 1855 2072 8.27e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107127
AA Change: V1195M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
AA Change: V1195M

DomainStartEndE-ValueType
MYSc 59 742 N/A SMART
IQ 743 765 2.99e0 SMART
IQ 766 788 8.77e-7 SMART
IQ 812 834 8e0 SMART
IQ 835 857 8.7e0 SMART
low complexity region 865 900 N/A INTRINSIC
low complexity region 904 927 N/A INTRINSIC
low complexity region 983 996 N/A INTRINSIC
MyTH4 1017 1253 1.4e-71 SMART
B41 1254 1469 8.82e-42 SMART
SH3 1568 1633 4.93e-7 SMART
MyTH4 1709 1858 3.95e-57 SMART
B41 1860 2077 8.27e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107128
AA Change: V1195M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
AA Change: V1195M

DomainStartEndE-ValueType
MYSc 59 742 N/A SMART
IQ 743 765 2.99e0 SMART
IQ 766 788 8.77e-7 SMART
IQ 812 834 8e0 SMART
IQ 835 857 8.7e0 SMART
low complexity region 865 900 N/A INTRINSIC
low complexity region 904 927 N/A INTRINSIC
low complexity region 983 996 N/A INTRINSIC
MyTH4 1017 1253 1.4e-71 SMART
B41 1254 1469 8.82e-42 SMART
SH3 1606 1671 4.93e-7 SMART
MyTH4 1747 1896 3.95e-57 SMART
B41 1898 2115 8.27e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156992
Predicted Effect probably benign
Transcript: ENSMUST00000205746
AA Change: V1184M

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 96% (70/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: A number of spontaneous and ENU-induced mutations cause head-shaking, circling and deafness, often associated with cochlear hair cell degeneration and stereocilia anomalies. Defects in retinal pigment epithelial cells, male infertility, and light-inducedphotoreceptor damage have also been observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,042,376 (GRCm39) R1899G probably damaging Het
Abca6 C T 11: 110,132,407 (GRCm39) G296D probably damaging Het
Abcb5 A T 12: 118,854,284 (GRCm39) probably null Het
Adam28 T G 14: 68,870,657 (GRCm39) T339P probably damaging Het
Adam34l T A 8: 44,079,189 (GRCm39) H345L probably damaging Het
Adcy10 C G 1: 165,345,943 (GRCm39) Q331E probably damaging Het
Aldh1a2 A T 9: 71,160,196 (GRCm39) probably null Het
Alms1 T A 6: 85,673,639 (GRCm39) I3078N probably damaging Het
Amtn A T 5: 88,528,139 (GRCm39) N71Y probably damaging Het
Arhgef18 A T 8: 3,438,753 (GRCm39) Y370F probably benign Het
Arid4a T C 12: 71,121,862 (GRCm39) S748P probably benign Het
Atp2b1 C A 10: 98,852,842 (GRCm39) Q108K possibly damaging Het
Bcdin3d T C 15: 99,368,830 (GRCm39) D123G probably benign Het
Capn15 A G 17: 26,184,410 (GRCm39) S24P probably damaging Het
Cc2d2a T A 5: 43,896,754 (GRCm39) S1550R possibly damaging Het
Ccdc7a C T 8: 129,559,091 (GRCm39) V1174M probably damaging Het
Cd22 T A 7: 30,575,578 (GRCm39) I155F probably damaging Het
Ceacam3 T C 7: 16,895,863 (GRCm39) I611T possibly damaging Het
Chrna1 C T 2: 73,397,180 (GRCm39) D370N possibly damaging Het
Dlg2 C A 7: 92,093,716 (GRCm39) probably null Het
Dll4 A T 2: 119,164,276 (GRCm39) probably null Het
Eif5b T C 1: 38,058,108 (GRCm39) S137P probably benign Het
Epn2 A T 11: 61,424,467 (GRCm39) M250K probably damaging Het
Fat2 T A 11: 55,161,283 (GRCm39) Q3149L probably damaging Het
Fbxl13 G A 5: 21,761,812 (GRCm39) S341F probably benign Het
Gm5141 A T 13: 62,922,597 (GRCm39) C191S probably damaging Het
Gm5150 C T 3: 16,044,815 (GRCm39) G137S probably damaging Het
Gpr75 C T 11: 30,841,529 (GRCm39) R145W probably damaging Het
Heatr5b G A 17: 79,060,502 (GRCm39) H2058Y probably benign Het
Ina G A 19: 47,012,000 (GRCm39) E473K probably benign Het
Irx6 T C 8: 93,402,700 (GRCm39) S22P probably benign Het
Itpr1 T A 6: 108,394,933 (GRCm39) M32K probably damaging Het
Jmjd1c T A 10: 67,061,795 (GRCm39) S1383T probably benign Het
Lclat1 T A 17: 73,468,828 (GRCm39) S3T probably damaging Het
Llgl1 G A 11: 60,600,486 (GRCm39) V612M probably damaging Het
Mios A G 6: 8,231,239 (GRCm39) R708G probably benign Het
Mphosph8 T C 14: 56,925,943 (GRCm39) L636P probably damaging Het
Mrgpra2b T A 7: 47,113,893 (GRCm39) N254Y probably damaging Het
Myog G A 1: 134,218,226 (GRCm39) D145N probably benign Het
Nat10 T A 2: 103,570,231 (GRCm39) I371F possibly damaging Het
Neb A T 2: 52,057,656 (GRCm39) Y229* probably null Het
Nlrp6 T A 7: 140,507,422 (GRCm39) I896K possibly damaging Het
Or11g7 A T 14: 50,691,042 (GRCm39) I178L possibly damaging Het
Or52p2 G A 7: 102,237,878 (GRCm39) A24V probably benign Het
Or5an11 T C 19: 12,246,070 (GRCm39) S159P probably damaging Het
Pate5 T A 9: 35,755,351 (GRCm39) K3* probably null Het
Pcdhgc5 A C 18: 37,954,301 (GRCm39) E525A probably damaging Het
Pira1 T A 7: 3,741,930 (GRCm39) Y150F probably benign Het
Pkd2 C A 5: 104,607,790 (GRCm39) D96E probably benign Het
Prtg A G 9: 72,815,138 (GRCm39) D1022G probably damaging Het
Ptpn13 T C 5: 103,689,150 (GRCm39) M981T probably benign Het
Rc3h2 C A 2: 37,299,482 (GRCm39) A183S probably damaging Het
Rorb A T 19: 18,937,856 (GRCm39) I270N probably damaging Het
Rpgrip1 C T 14: 52,378,646 (GRCm39) R524W probably damaging Het
Slc25a10 T C 11: 120,386,031 (GRCm39) V124A probably damaging Het
Slc40a1 T A 1: 45,958,107 (GRCm39) I109F probably damaging Het
Spen G A 4: 141,202,820 (GRCm39) R1936W probably damaging Het
St6gal2 T A 17: 55,789,514 (GRCm39) Y183N probably benign Het
Svil A G 18: 5,056,629 (GRCm39) K588E possibly damaging Het
Tas2r122 C T 6: 132,688,626 (GRCm39) W89* probably null Het
Tbxas1 T A 6: 38,929,079 (GRCm39) probably benign Het
Tia1 T A 6: 86,397,360 (GRCm39) I111N probably damaging Het
Tlr9 T A 9: 106,101,198 (GRCm39) L163H probably damaging Het
Tnn C T 1: 159,942,289 (GRCm39) V806M probably damaging Het
Traf5 G A 1: 191,731,887 (GRCm39) A318V probably benign Het
Ttc3 T A 16: 94,219,482 (GRCm39) M1K probably null Het
Utp25 G T 1: 192,810,684 (GRCm39) D106E probably benign Het
Vmn1r192 T A 13: 22,372,000 (GRCm39) R73S probably benign Het
Vmn1r71 T C 7: 10,482,331 (GRCm39) Y53C probably benign Het
Vmn2r34 T A 7: 7,686,582 (GRCm39) N372Y probably damaging Het
Wbp2 A T 11: 115,970,579 (GRCm39) S229R probably damaging Het
Wdr18 C T 10: 79,801,115 (GRCm39) T176I probably damaging Het
Other mutations in Myo7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Myo7a APN 7 97,751,833 (GRCm39) missense probably damaging 1.00
IGL00785:Myo7a APN 7 97,703,555 (GRCm39) missense probably damaging 0.99
IGL00840:Myo7a APN 7 97,700,866 (GRCm39) missense probably benign 0.25
IGL01362:Myo7a APN 7 97,746,909 (GRCm39) missense probably damaging 1.00
IGL01484:Myo7a APN 7 97,734,629 (GRCm39) missense probably damaging 1.00
IGL01673:Myo7a APN 7 97,703,915 (GRCm39) missense probably benign 0.00
IGL01933:Myo7a APN 7 97,732,349 (GRCm39) missense probably damaging 1.00
IGL01943:Myo7a APN 7 97,714,854 (GRCm39) missense possibly damaging 0.96
IGL02188:Myo7a APN 7 97,740,234 (GRCm39) missense probably damaging 0.96
IGL02304:Myo7a APN 7 97,726,943 (GRCm39) missense possibly damaging 0.89
IGL02305:Myo7a APN 7 97,700,836 (GRCm39) makesense probably null
IGL02331:Myo7a APN 7 97,702,389 (GRCm39) missense possibly damaging 0.95
IGL02386:Myo7a APN 7 97,724,319 (GRCm39) missense probably damaging 0.99
IGL02389:Myo7a APN 7 97,756,198 (GRCm39) critical splice donor site probably null
IGL02832:Myo7a APN 7 97,740,227 (GRCm39) critical splice donor site probably null
IGL02839:Myo7a APN 7 97,740,329 (GRCm39) missense probably damaging 1.00
IGL03193:Myo7a APN 7 97,740,264 (GRCm39) missense probably damaging 1.00
IGL03237:Myo7a APN 7 97,751,800 (GRCm39) missense probably damaging 1.00
IGL03384:Myo7a APN 7 97,742,800 (GRCm39) missense probably damaging 1.00
coward UTSW 7 97,734,673 (GRCm39) missense probably damaging 1.00
H8786:Myo7a UTSW 7 97,744,985 (GRCm39) missense possibly damaging 0.61
IGL03046:Myo7a UTSW 7 97,728,534 (GRCm39) missense probably damaging 1.00
IGL03134:Myo7a UTSW 7 97,705,974 (GRCm39) missense probably damaging 0.96
PIT4696001:Myo7a UTSW 7 97,712,806 (GRCm39) missense probably benign 0.00
R0054:Myo7a UTSW 7 97,714,905 (GRCm39) missense probably damaging 1.00
R0054:Myo7a UTSW 7 97,714,905 (GRCm39) missense probably damaging 1.00
R0071:Myo7a UTSW 7 97,706,037 (GRCm39) missense probably damaging 0.98
R0071:Myo7a UTSW 7 97,706,037 (GRCm39) missense probably damaging 0.98
R0267:Myo7a UTSW 7 97,703,831 (GRCm39) missense probably benign 0.08
R0408:Myo7a UTSW 7 97,705,988 (GRCm39) missense probably damaging 1.00
R0411:Myo7a UTSW 7 97,721,144 (GRCm39) missense probably benign 0.00
R0540:Myo7a UTSW 7 97,721,153 (GRCm39) missense probably damaging 1.00
R0607:Myo7a UTSW 7 97,721,153 (GRCm39) missense probably damaging 1.00
R0629:Myo7a UTSW 7 97,734,673 (GRCm39) missense probably damaging 1.00
R0632:Myo7a UTSW 7 97,761,357 (GRCm39) intron probably benign
R0659:Myo7a UTSW 7 97,703,545 (GRCm39) splice site probably benign
R0735:Myo7a UTSW 7 97,730,387 (GRCm39) splice site probably benign
R0924:Myo7a UTSW 7 97,747,463 (GRCm39) missense probably damaging 0.99
R0930:Myo7a UTSW 7 97,747,463 (GRCm39) missense probably damaging 0.99
R1018:Myo7a UTSW 7 97,756,212 (GRCm39) missense probably damaging 1.00
R1196:Myo7a UTSW 7 97,746,880 (GRCm39) missense possibly damaging 0.87
R1331:Myo7a UTSW 7 97,756,215 (GRCm39) missense probably benign 0.00
R1487:Myo7a UTSW 7 97,703,017 (GRCm39) critical splice donor site probably null
R1676:Myo7a UTSW 7 97,748,679 (GRCm39) critical splice donor site probably null
R1695:Myo7a UTSW 7 97,741,703 (GRCm39) missense possibly damaging 0.94
R1770:Myo7a UTSW 7 97,761,813 (GRCm39) intron probably benign
R1781:Myo7a UTSW 7 97,722,331 (GRCm39) missense probably damaging 1.00
R1789:Myo7a UTSW 7 97,756,302 (GRCm39) missense probably damaging 0.99
R1827:Myo7a UTSW 7 97,725,938 (GRCm39) missense probably damaging 0.99
R1864:Myo7a UTSW 7 97,701,463 (GRCm39) missense probably damaging 1.00
R1955:Myo7a UTSW 7 97,704,128 (GRCm39) missense probably damaging 1.00
R2011:Myo7a UTSW 7 97,703,915 (GRCm39) missense possibly damaging 0.69
R2229:Myo7a UTSW 7 97,704,117 (GRCm39) missense probably benign 0.12
R2259:Myo7a UTSW 7 97,718,706 (GRCm39) missense probably damaging 1.00
R2443:Myo7a UTSW 7 97,744,976 (GRCm39) missense probably benign 0.07
R2898:Myo7a UTSW 7 97,746,413 (GRCm39) missense probably damaging 1.00
R2898:Myo7a UTSW 7 97,703,631 (GRCm39) nonsense probably null
R3158:Myo7a UTSW 7 97,701,499 (GRCm39) missense probably damaging 1.00
R3408:Myo7a UTSW 7 97,730,294 (GRCm39) missense probably benign 0.00
R4222:Myo7a UTSW 7 97,722,436 (GRCm39) missense possibly damaging 0.93
R4255:Myo7a UTSW 7 97,721,171 (GRCm39) missense probably damaging 0.96
R4374:Myo7a UTSW 7 97,751,881 (GRCm39) missense probably damaging 1.00
R4429:Myo7a UTSW 7 97,702,395 (GRCm39) missense probably damaging 0.99
R4445:Myo7a UTSW 7 97,715,611 (GRCm39) missense probably damaging 1.00
R4579:Myo7a UTSW 7 97,722,400 (GRCm39) missense probably damaging 1.00
R4659:Myo7a UTSW 7 97,734,673 (GRCm39) missense probably damaging 1.00
R5073:Myo7a UTSW 7 97,722,425 (GRCm39) nonsense probably null
R5138:Myo7a UTSW 7 97,732,806 (GRCm39) missense probably damaging 1.00
R5566:Myo7a UTSW 7 97,714,023 (GRCm39) missense possibly damaging 0.93
R5580:Myo7a UTSW 7 97,722,367 (GRCm39) missense probably damaging 1.00
R6079:Myo7a UTSW 7 97,714,997 (GRCm39) nonsense probably null
R6138:Myo7a UTSW 7 97,714,997 (GRCm39) nonsense probably null
R6451:Myo7a UTSW 7 97,722,374 (GRCm39) missense probably benign 0.01
R6452:Myo7a UTSW 7 97,722,374 (GRCm39) missense probably benign 0.01
R6453:Myo7a UTSW 7 97,722,374 (GRCm39) missense probably benign 0.01
R6454:Myo7a UTSW 7 97,722,374 (GRCm39) missense probably benign 0.01
R6465:Myo7a UTSW 7 97,711,887 (GRCm39) missense possibly damaging 0.95
R6653:Myo7a UTSW 7 97,703,710 (GRCm39) missense probably damaging 0.96
R6709:Myo7a UTSW 7 97,703,906 (GRCm39) missense probably damaging 1.00
R6917:Myo7a UTSW 7 97,744,970 (GRCm39) missense possibly damaging 0.58
R7313:Myo7a UTSW 7 97,713,402 (GRCm39) missense probably damaging 0.99
R7334:Myo7a UTSW 7 97,728,573 (GRCm39) missense probably benign
R7356:Myo7a UTSW 7 97,751,890 (GRCm39) missense probably benign 0.01
R7393:Myo7a UTSW 7 97,712,906 (GRCm39) missense possibly damaging 0.91
R7422:Myo7a UTSW 7 97,700,833 (GRCm39) splice site probably null
R7472:Myo7a UTSW 7 97,714,000 (GRCm39) missense probably damaging 1.00
R7483:Myo7a UTSW 7 97,712,881 (GRCm39) missense probably benign 0.07
R7526:Myo7a UTSW 7 97,734,655 (GRCm39) missense possibly damaging 0.49
R7948:Myo7a UTSW 7 97,724,236 (GRCm39) missense probably damaging 1.00
R8069:Myo7a UTSW 7 97,732,833 (GRCm39) nonsense probably null
R8115:Myo7a UTSW 7 97,715,653 (GRCm39) missense probably damaging 0.98
R8150:Myo7a UTSW 7 97,712,846 (GRCm39) missense probably benign 0.19
R8265:Myo7a UTSW 7 97,734,604 (GRCm39) missense probably benign 0.00
R8289:Myo7a UTSW 7 97,726,376 (GRCm39) missense probably benign
R8298:Myo7a UTSW 7 97,747,541 (GRCm39) missense probably damaging 1.00
R8518:Myo7a UTSW 7 97,740,270 (GRCm39) missense possibly damaging 0.58
R8539:Myo7a UTSW 7 97,721,668 (GRCm39) missense probably damaging 0.99
R8557:Myo7a UTSW 7 97,703,081 (GRCm39) missense probably benign 0.08
R8685:Myo7a UTSW 7 97,746,334 (GRCm39) missense probably benign 0.03
R8902:Myo7a UTSW 7 97,741,820 (GRCm39) missense probably damaging 1.00
R9034:Myo7a UTSW 7 97,728,465 (GRCm39) missense probably benign 0.40
R9090:Myo7a UTSW 7 97,740,281 (GRCm39) missense probably benign 0.04
R9172:Myo7a UTSW 7 97,732,369 (GRCm39) missense probably benign
R9271:Myo7a UTSW 7 97,740,281 (GRCm39) missense probably benign 0.04
R9334:Myo7a UTSW 7 97,716,369 (GRCm39) missense probably damaging 1.00
R9356:Myo7a UTSW 7 97,725,873 (GRCm39) missense probably benign 0.11
R9444:Myo7a UTSW 7 97,742,698 (GRCm39) missense possibly damaging 0.84
R9459:Myo7a UTSW 7 97,722,380 (GRCm39) missense possibly damaging 0.65
R9513:Myo7a UTSW 7 97,746,818 (GRCm39) critical splice donor site probably null
R9517:Myo7a UTSW 7 97,721,166 (GRCm39) missense probably damaging 1.00
R9629:Myo7a UTSW 7 97,712,937 (GRCm39) missense probably benign 0.03
R9662:Myo7a UTSW 7 97,747,499 (GRCm39) missense possibly damaging 0.55
R9709:Myo7a UTSW 7 97,743,536 (GRCm39) missense possibly damaging 0.79
RF005:Myo7a UTSW 7 97,742,824 (GRCm39) missense probably benign 0.42
U15987:Myo7a UTSW 7 97,714,997 (GRCm39) nonsense probably null
X0028:Myo7a UTSW 7 97,714,932 (GRCm39) missense probably damaging 1.00
X0058:Myo7a UTSW 7 97,711,855 (GRCm39) missense probably benign 0.02
Z1176:Myo7a UTSW 7 97,744,934 (GRCm39) missense probably damaging 0.98
Z1177:Myo7a UTSW 7 97,734,730 (GRCm39) critical splice acceptor site probably null
Z1177:Myo7a UTSW 7 97,701,433 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATTCCAGAACTCGAGAAGTCCC -3'
(R):5'- TCTAAAGCAAGACCCTCTGCTC -3'

Sequencing Primer
(F):5'- CAGAGTCCCACATGAGGACTATTTG -3'
(R):5'- AAGACCCTCTGCTCAGCCTC -3'
Posted On 2018-05-24