Incidental Mutation 'R0408:Myo7a'
ID 40097
Institutional Source Beutler Lab
Gene Symbol Myo7a
Ensembl Gene ENSMUSG00000030761
Gene Name myosin VIIA
Synonyms nmf371, USH1B, polka, Hdb, Myo7
MMRRC Submission 038610-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0408 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 97700267-97768731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97705988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 1863 (Q1863R)
Ref Sequence ENSEMBL: ENSMUSP00000102744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084979] [ENSMUST00000107122] [ENSMUST00000107127] [ENSMUST00000107128] [ENSMUST00000156992] [ENSMUST00000205746]
AlphaFold P97479
PDB Structure Structure of myosin VIIa MyTH4-FERM-SH3 in complex with the CEN1 of Sans [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000084979
AA Change: Q1852R

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000082046
Gene: ENSMUSG00000030761
AA Change: Q1852R

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: Q1858R

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102739
Gene: ENSMUSG00000030761
AA Change: Q1858R

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 damaging
Transcript: ENSMUST00000107127
AA Change: Q1863R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102744
Gene: ENSMUSG00000030761
AA Change: Q1863R

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 damaging
Transcript: ENSMUST00000107128
AA Change: Q1901R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102745
Gene: ENSMUSG00000030761
AA Change: Q1901R

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 damaging
Transcript: ENSMUST00000205746
AA Change: Q1852R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,903,446 (GRCm39) N1032K probably damaging Het
Abcc8 A G 7: 45,756,457 (GRCm39) I1416T probably damaging Het
Aco2 T C 15: 81,797,319 (GRCm39) probably null Het
Akap13 C T 7: 75,396,544 (GRCm39) L2514F probably damaging Het
Aldh1a3 A G 7: 66,055,798 (GRCm39) V331A probably damaging Het
Arid3a T A 10: 79,786,667 (GRCm39) D473E probably benign Het
Atg9a A G 1: 75,161,939 (GRCm39) S536P probably damaging Het
Atxn7 A T 14: 14,100,317 (GRCm38) S668C probably damaging Het
Bcar3 A T 3: 122,302,033 (GRCm39) I243F probably damaging Het
Bend6 G A 1: 33,901,834 (GRCm39) P183S probably damaging Het
Bfsp2 A T 9: 103,357,299 (GRCm39) S43T probably benign Het
Camk4 G A 18: 33,262,845 (GRCm39) D136N probably damaging Het
Ceacam3 G T 7: 16,885,808 (GRCm39) probably benign Het
Chrm3 T C 13: 9,927,969 (GRCm39) I356V probably benign Het
Clec9a T A 6: 129,396,532 (GRCm39) I133N possibly damaging Het
Ctnnd2 T C 15: 30,634,823 (GRCm39) L157P probably damaging Het
Ddhd2 T C 8: 26,229,614 (GRCm39) probably null Het
Def8 T C 8: 124,186,656 (GRCm39) V436A probably damaging Het
Dipk1c T A 18: 84,738,488 (GRCm39) probably null Het
Dock10 T C 1: 80,518,193 (GRCm39) K1293R probably benign Het
Dync1h1 T G 12: 110,598,126 (GRCm39) D1772E probably benign Het
Ephx4 G T 5: 107,561,387 (GRCm39) G72C probably damaging Het
Fam136a T G 6: 86,343,707 (GRCm39) V68G possibly damaging Het
Fcgrt T C 7: 44,751,363 (GRCm39) E195G probably damaging Het
Fut9 T A 4: 25,620,319 (GRCm39) Q165L possibly damaging Het
Glb1l T C 1: 75,185,479 (GRCm39) Y77C probably damaging Het
Gpr26 T C 7: 131,569,249 (GRCm39) V198A possibly damaging Het
Gpr26 C A 7: 131,576,001 (GRCm39) probably null Het
Gsdma3 A C 11: 98,526,164 (GRCm39) E296A probably benign Het
Hyou1 G T 9: 44,295,989 (GRCm39) G385W probably damaging Het
Il17rb T C 14: 29,718,637 (GRCm39) S482G probably benign Het
Itgb4 A T 11: 115,898,428 (GRCm39) R1715W probably damaging Het
Jak2 A G 19: 29,263,717 (GRCm39) S411G probably benign Het
Kdm3a C T 6: 71,588,663 (GRCm39) D449N probably benign Het
Kifbp T C 10: 62,401,832 (GRCm39) I23M probably benign Het
Klhl26 T C 8: 70,905,130 (GRCm39) D226G probably damaging Het
Klra1 T A 6: 130,354,737 (GRCm39) I94F probably benign Het
Lama3 A G 18: 12,589,894 (GRCm39) D808G probably benign Het
Lrp1b C T 2: 40,567,603 (GRCm39) M272I probably damaging Het
Masp2 A G 4: 148,690,496 (GRCm39) D251G probably benign Het
Mob3b T C 4: 35,083,991 (GRCm39) D66G probably damaging Het
Naa12 T C 18: 80,255,029 (GRCm39) S108P probably damaging Het
Or10al3 G A 17: 38,012,190 (GRCm39) V210I probably benign Het
Or4c103 A T 2: 88,513,999 (GRCm39) F26I probably benign Het
Pdgfd T A 9: 6,293,928 (GRCm39) Y167* probably null Het
Pfas A G 11: 68,891,931 (GRCm39) probably null Het
Plin1 T A 7: 79,372,394 (GRCm39) T393S probably damaging Het
Prdm15 A T 16: 97,636,986 (GRCm39) N110K possibly damaging Het
Prune2 T A 19: 17,099,674 (GRCm39) V1726D probably benign Het
Sestd1 T A 2: 77,022,137 (GRCm39) D518V probably damaging Het
Setd2 C T 9: 110,423,310 (GRCm39) P344S probably damaging Het
Slc22a1 A T 17: 12,875,828 (GRCm39) I462N probably damaging Het
Slc6a1 G A 6: 114,279,761 (GRCm39) V142I probably benign Het
Tbc1d14 G T 5: 36,728,643 (GRCm39) T241K possibly damaging Het
Uaca T C 9: 60,779,141 (GRCm39) L1176P possibly damaging Het
Ube2g1 G C 11: 72,563,791 (GRCm39) G52A probably damaging Het
Utrn A G 10: 12,259,934 (GRCm39) *957R probably null Het
Vmn2r125 A T 4: 156,703,153 (GRCm39) E177V probably damaging Het
Vmn2r86 A G 10: 130,282,723 (GRCm39) F631S probably damaging Het
Zc3h13 T A 14: 75,529,626 (GRCm39) C42* probably null Het
Zc3h14 T G 12: 98,730,082 (GRCm39) V13G probably damaging Het
Zfat A T 15: 68,052,141 (GRCm39) V551D probably benign Het
Zfp618 C T 4: 63,004,809 (GRCm39) R70W 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
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
R6455: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'- TGTTCTACCCAAGGGCAAGAGACTG -3'
(R):5'- GCAGACTCTGCAATGCTCACTCAC -3'

Sequencing Primer
(F):5'- CTGAGATGTCAGGGTGTCAGG -3'
(R):5'- GCCACATAGCTGAGTCTACTG -3'
Posted On 2013-05-23