Incidental Mutation 'R7000:Otogl'
ID 544492
Institutional Source Beutler Lab
Gene Symbol Otogl
Ensembl Gene ENSMUSG00000091455
Gene Name otogelin-like
Synonyms Gm6924
MMRRC Submission 045105-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7000 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 107596392-107747995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107615692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1869 (N1869S)
Ref Sequence ENSEMBL: ENSMUSP00000129467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165341]
AlphaFold F7A4A7
Predicted Effect probably benign
Transcript: ENSMUST00000165341
AA Change: N1869S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129467
Gene: ENSMUSG00000091455
AA Change: N1869S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
EGF_like 71 101 3.36e1 SMART
VWD 104 264 4.74e-29 SMART
C8 305 378 6.13e-6 SMART
VWD 463 625 7e-41 SMART
C8 668 733 3.6e-3 SMART
Pfam:TIL 736 791 2.3e-11 PFAM
SCOP:d1coua_ 833 911 1e-6 SMART
VWD 928 1085 1.29e-30 SMART
C8 1120 1194 1.81e-26 SMART
Pfam:AbfB 1230 1350 1.2e-10 PFAM
Pfam:TIL 1364 1418 6.1e-8 PFAM
VWD 1497 1671 2.34e-10 SMART
C8 1705 1775 9.56e-17 SMART
Pfam:TIL 1778 1836 1.6e-8 PFAM
low complexity region 1870 1886 N/A INTRINSIC
CT 2242 2325 6.9e-14 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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 belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,752,823 (GRCm39) A525T probably benign Het
Abcc6 A G 7: 45,654,946 (GRCm39) I515T possibly damaging Het
Abi1 G A 2: 22,832,053 (GRCm39) A420V probably damaging Het
Abtb2 A T 2: 103,542,787 (GRCm39) I887F possibly damaging Het
Acap3 G A 4: 155,988,306 (GRCm39) G602S possibly damaging Het
Auts2 T A 5: 131,469,056 (GRCm39) T754S probably benign Het
AW551984 T C 9: 39,512,085 (GRCm39) R12G probably benign Het
Bcan G A 3: 87,895,686 (GRCm39) R817* probably null Het
Bmp10 A G 6: 87,411,175 (GRCm39) T323A probably benign Het
Bpnt1 T C 1: 185,082,053 (GRCm39) L165P probably damaging Het
Casz1 G A 4: 149,013,693 (GRCm39) A86T probably damaging Het
Ccn3 A T 15: 54,615,743 (GRCm39) T303S probably damaging Het
Cd1d2 T C 3: 86,895,080 (GRCm39) F189L probably benign Het
Cep72 A G 13: 74,206,444 (GRCm39) M126T probably damaging Het
Cep85l T A 10: 53,174,295 (GRCm39) T483S probably damaging Het
Cfi C A 3: 129,666,522 (GRCm39) T415K probably damaging Het
Chrna7 A G 7: 62,755,787 (GRCm39) L253S probably damaging Het
Col4a4 T C 1: 82,475,051 (GRCm39) H596R unknown Het
Cplx3 G C 9: 57,523,231 (GRCm39) Q109E probably benign Het
Cyp2j8 A T 4: 96,335,588 (GRCm39) M402K probably benign Het
Cyp3a16 T A 5: 145,399,980 (GRCm39) probably null Het
Dhdh T C 7: 45,124,698 (GRCm39) K332E possibly damaging Het
Dnah11 C A 12: 117,981,396 (GRCm39) C2590F probably damaging Het
Dnah17 T C 11: 117,916,528 (GRCm39) probably null Het
Dtx1 A G 5: 120,833,148 (GRCm39) Y97H probably damaging Het
Duxf1 T C 10: 58,058,814 (GRCm39) T647A possibly damaging Het
Elf1 A G 14: 79,808,208 (GRCm39) D183G probably damaging Het
Esyt3 A C 9: 99,204,206 (GRCm39) L94R probably damaging Het
Exoc3 A G 13: 74,330,285 (GRCm39) Y521H probably benign Het
F5 C T 1: 164,007,075 (GRCm39) T293M probably damaging Het
Fam118b A T 9: 35,146,560 (GRCm39) H102Q probably damaging Het
Flad1 T C 3: 89,309,549 (GRCm39) probably benign Het
Flrt3 G A 2: 140,502,804 (GRCm39) R275* probably null Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Fscn1 T A 5: 142,946,382 (GRCm39) V60E probably damaging Het
Gm17175 A T 14: 51,811,418 (GRCm39) M1K probably null Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gprc6a T C 10: 51,491,143 (GRCm39) S694G probably benign Het
Iglon5 A T 7: 43,126,254 (GRCm39) probably null Het
Iqch T C 9: 63,361,892 (GRCm39) T874A probably benign Het
Lamc2 T A 1: 153,041,873 (GRCm39) H87L possibly damaging Het
Ldlrad1 T A 4: 107,066,777 (GRCm39) D37E probably benign Het
Loxhd1 T C 18: 77,460,129 (GRCm39) probably null Het
Lxn T G 3: 67,369,704 (GRCm39) E60D probably benign Het
Man2b2 A G 5: 36,979,213 (GRCm39) W276R probably damaging Het
Mast1 T C 8: 85,655,598 (GRCm39) Y182C probably damaging Het
Mroh8 C T 2: 157,058,897 (GRCm39) R923Q probably benign Het
Obscn A G 11: 59,026,864 (GRCm39) L113P probably damaging Het
Ocln C T 13: 100,671,470 (GRCm39) probably null Het
Oog2 A T 4: 143,921,897 (GRCm39) Q269L probably damaging Het
Or52e8 G A 7: 104,624,338 (GRCm39) P285S probably damaging Het
Or5b113 A G 19: 13,341,987 (GRCm39) probably benign Het
Osbpl3 A G 6: 50,274,137 (GRCm39) S826P probably damaging Het
Pamr1 G A 2: 102,441,968 (GRCm39) D186N probably damaging Het
Pcdhga8 T A 18: 37,859,946 (GRCm39) I334K probably benign Het
Pde7b A G 10: 20,319,038 (GRCm39) S95P probably damaging Het
Pik3cg A T 12: 32,242,128 (GRCm39) V994E probably damaging Het
Pkp1 T C 1: 135,817,692 (GRCm39) M148V probably benign Het
Plbd1 T G 6: 136,589,836 (GRCm39) K461Q probably benign Het
Pmfbp1 A G 8: 110,257,221 (GRCm39) E594G possibly damaging Het
Pold3 A T 7: 99,755,865 (GRCm39) H60Q probably damaging Het
Polr3gl C T 3: 96,487,783 (GRCm39) R52Q possibly damaging Het
Ptgds A G 2: 25,357,828 (GRCm39) probably null Het
Scarb2 T C 5: 92,601,934 (GRCm39) D320G probably benign Het
Sdk2 T C 11: 113,693,995 (GRCm39) Y1812C probably damaging Het
Skint8 C A 4: 111,794,222 (GRCm39) T204N probably benign Het
Slc23a2 T C 2: 131,936,123 (GRCm39) Q49R possibly damaging Het
Slc26a7 T C 4: 14,552,476 (GRCm39) Q227R probably benign Het
Sntn C T 14: 13,679,108 (GRCm38) T94I probably damaging Het
Spem2 C T 11: 69,708,582 (GRCm39) G128S probably benign Het
Supt16 A T 14: 52,408,907 (GRCm39) S822R probably damaging Het
Syn3 T C 10: 85,916,116 (GRCm39) Y290C probably damaging Het
Tdrd6 C G 17: 43,938,599 (GRCm39) E816D probably benign Het
Tln1 A T 4: 43,556,302 (GRCm39) M72K probably damaging Het
Tlnrd1 A G 7: 83,531,987 (GRCm39) V148A probably damaging Het
Trim24 C A 6: 37,935,613 (GRCm39) T832K probably benign Het
Ubr4 C T 4: 139,141,715 (GRCm39) A1267V probably damaging Het
Usp17lb A T 7: 104,490,492 (GRCm39) M145K probably damaging Het
Vmn1r178 T A 7: 23,593,762 (GRCm39) M270K probably benign Het
Vmn2r70 A T 7: 85,208,819 (GRCm39) C553S probably damaging Het
Vps37c G T 19: 10,687,693 (GRCm39) E51D probably damaging Het
Zfp62 T G 11: 49,107,206 (GRCm39) Y432* probably null Het
Other mutations in Otogl
AlleleSourceChrCoordTypePredicted EffectPPH Score
H8562:Otogl UTSW 10 107,746,817 (GRCm39) missense probably benign 0.00
R0084:Otogl UTSW 10 107,737,202 (GRCm39) missense probably damaging 0.96
R0164:Otogl UTSW 10 107,710,391 (GRCm39) missense probably damaging 0.97
R0164:Otogl UTSW 10 107,710,391 (GRCm39) missense probably damaging 0.97
R0238:Otogl UTSW 10 107,642,557 (GRCm39) missense probably damaging 0.98
R0238:Otogl UTSW 10 107,642,557 (GRCm39) missense probably damaging 0.98
R0239:Otogl UTSW 10 107,642,557 (GRCm39) missense probably damaging 0.98
R0239:Otogl UTSW 10 107,642,557 (GRCm39) missense probably damaging 0.98
R0294:Otogl UTSW 10 107,613,089 (GRCm39) missense probably damaging 1.00
R0360:Otogl UTSW 10 107,606,511 (GRCm39) splice site probably benign
R0442:Otogl UTSW 10 107,712,716 (GRCm39) missense probably damaging 1.00
R0488:Otogl UTSW 10 107,639,466 (GRCm39) missense probably benign 0.02
R0507:Otogl UTSW 10 107,702,601 (GRCm39) missense possibly damaging 0.51
R0573:Otogl UTSW 10 107,616,849 (GRCm39) missense probably benign 0.00
R0581:Otogl UTSW 10 107,624,901 (GRCm39) missense possibly damaging 0.79
R0613:Otogl UTSW 10 107,652,931 (GRCm39) missense probably damaging 0.99
R0614:Otogl UTSW 10 107,634,216 (GRCm39) missense probably benign 0.14
R0742:Otogl UTSW 10 107,702,601 (GRCm39) missense possibly damaging 0.51
R0846:Otogl UTSW 10 107,608,157 (GRCm39) missense probably benign 0.40
R1146:Otogl UTSW 10 107,722,374 (GRCm39) missense probably damaging 1.00
R1146:Otogl UTSW 10 107,722,374 (GRCm39) missense probably damaging 1.00
R1439:Otogl UTSW 10 107,615,113 (GRCm39) missense probably benign 0.02
R1457:Otogl UTSW 10 107,714,013 (GRCm39) splice site probably null
R1526:Otogl UTSW 10 107,705,387 (GRCm39) missense probably damaging 1.00
R1662:Otogl UTSW 10 107,634,218 (GRCm39) missense possibly damaging 0.84
R1664:Otogl UTSW 10 107,642,437 (GRCm39) missense probably benign 0.00
R1667:Otogl UTSW 10 107,649,826 (GRCm39) nonsense probably null
R1695:Otogl UTSW 10 107,649,878 (GRCm39) missense probably damaging 0.99
R1731:Otogl UTSW 10 107,652,972 (GRCm39) missense probably damaging 1.00
R1733:Otogl UTSW 10 107,619,573 (GRCm39) missense possibly damaging 0.46
R1764:Otogl UTSW 10 107,735,322 (GRCm39) nonsense probably null
R1824:Otogl UTSW 10 107,615,692 (GRCm39) missense probably benign
R1850:Otogl UTSW 10 107,713,925 (GRCm39) missense probably damaging 1.00
R1856:Otogl UTSW 10 107,690,125 (GRCm39) missense possibly damaging 0.92
R1875:Otogl UTSW 10 107,735,451 (GRCm39) missense probably damaging 1.00
R1938:Otogl UTSW 10 107,613,436 (GRCm39) missense probably damaging 0.98
R1986:Otogl UTSW 10 107,630,051 (GRCm39) critical splice acceptor site probably null
R2072:Otogl UTSW 10 107,616,904 (GRCm39) missense probably damaging 1.00
R2117:Otogl UTSW 10 107,694,779 (GRCm39) missense probably benign 0.06
R2219:Otogl UTSW 10 107,692,838 (GRCm39) missense probably damaging 1.00
R2508:Otogl UTSW 10 107,710,361 (GRCm39) missense probably damaging 0.99
R2883:Otogl UTSW 10 107,604,842 (GRCm39) missense probably damaging 1.00
R2931:Otogl UTSW 10 107,655,865 (GRCm39) missense possibly damaging 0.85
R3620:Otogl UTSW 10 107,710,232 (GRCm39) missense probably damaging 0.99
R3621:Otogl UTSW 10 107,710,232 (GRCm39) missense probably damaging 0.99
R3735:Otogl UTSW 10 107,735,390 (GRCm39) nonsense probably null
R3812:Otogl UTSW 10 107,735,332 (GRCm39) missense probably damaging 1.00
R3880:Otogl UTSW 10 107,663,565 (GRCm39) missense probably damaging 0.96
R3958:Otogl UTSW 10 107,657,786 (GRCm39) missense probably damaging 1.00
R4063:Otogl UTSW 10 107,626,510 (GRCm39) missense probably benign 0.02
R4064:Otogl UTSW 10 107,626,510 (GRCm39) missense probably benign 0.02
R4108:Otogl UTSW 10 107,607,105 (GRCm39) missense probably benign 0.01
R4352:Otogl UTSW 10 107,705,396 (GRCm39) missense probably damaging 1.00
R4526:Otogl UTSW 10 107,722,841 (GRCm39) missense probably damaging 1.00
R4614:Otogl UTSW 10 107,727,985 (GRCm39) nonsense probably null
R4703:Otogl UTSW 10 107,657,785 (GRCm39) missense probably damaging 1.00
R4741:Otogl UTSW 10 107,615,121 (GRCm39) missense probably benign 0.00
R4790:Otogl UTSW 10 107,657,894 (GRCm39) critical splice acceptor site probably null
R4801:Otogl UTSW 10 107,737,197 (GRCm39) missense probably damaging 1.00
R4802:Otogl UTSW 10 107,737,197 (GRCm39) missense probably damaging 1.00
R4910:Otogl UTSW 10 107,715,378 (GRCm39) missense probably benign 0.05
R4913:Otogl UTSW 10 107,712,716 (GRCm39) missense probably damaging 0.98
R5238:Otogl UTSW 10 107,604,834 (GRCm39) missense probably damaging 1.00
R5261:Otogl UTSW 10 107,613,453 (GRCm39) missense probably benign 0.16
R5387:Otogl UTSW 10 107,616,794 (GRCm39) missense probably benign 0.03
R5395:Otogl UTSW 10 107,652,999 (GRCm39) missense probably benign 0.39
R5403:Otogl UTSW 10 107,644,617 (GRCm39) missense probably benign 0.08
R5482:Otogl UTSW 10 107,657,802 (GRCm39) missense probably damaging 0.99
R5547:Otogl UTSW 10 107,617,909 (GRCm39) missense possibly damaging 0.55
R5611:Otogl UTSW 10 107,622,630 (GRCm39) missense probably damaging 1.00
R5642:Otogl UTSW 10 107,722,413 (GRCm39) missense probably benign 0.44
R5690:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R5711:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R5731:Otogl UTSW 10 107,717,325 (GRCm39) missense probably damaging 0.98
R5743:Otogl UTSW 10 107,692,862 (GRCm39) missense possibly damaging 0.67
R5782:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R5820:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R5897:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6004:Otogl UTSW 10 107,715,390 (GRCm39) missense probably damaging 1.00
R6145:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6146:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6147:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6149:Otogl UTSW 10 107,717,314 (GRCm39) missense probably benign 0.36
R6226:Otogl UTSW 10 107,607,067 (GRCm39) nonsense probably null
R6283:Otogl UTSW 10 107,626,361 (GRCm39) missense probably damaging 0.98
R6414:Otogl UTSW 10 107,617,911 (GRCm39) missense probably damaging 1.00
R6604:Otogl UTSW 10 107,657,895 (GRCm39) splice site probably null
R6634:Otogl UTSW 10 107,698,165 (GRCm39) missense probably damaging 1.00
R6727:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6755:Otogl UTSW 10 107,689,164 (GRCm39) nonsense probably null
R6795:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6797:Otogl UTSW 10 107,612,978 (GRCm39) synonymous silent
R6864:Otogl UTSW 10 107,663,667 (GRCm39) missense probably damaging 0.96
R6924:Otogl UTSW 10 107,644,502 (GRCm39) missense probably damaging 1.00
R6967:Otogl UTSW 10 107,649,911 (GRCm39) missense probably benign 0.01
R7075:Otogl UTSW 10 107,614,790 (GRCm39) missense probably benign 0.16
R7122:Otogl UTSW 10 107,702,515 (GRCm39) missense probably benign 0.08
R7176:Otogl UTSW 10 107,614,772 (GRCm39) missense probably damaging 1.00
R7184:Otogl UTSW 10 107,599,061 (GRCm39) missense probably damaging 1.00
R7199:Otogl UTSW 10 107,710,394 (GRCm39) missense possibly damaging 0.88
R7252:Otogl UTSW 10 107,657,804 (GRCm39) missense probably benign 0.06
R7286:Otogl UTSW 10 107,606,471 (GRCm39) missense probably benign 0.00
R7373:Otogl UTSW 10 107,737,112 (GRCm39) missense probably damaging 1.00
R7449:Otogl UTSW 10 107,639,524 (GRCm39) missense probably damaging 1.00
R7486:Otogl UTSW 10 107,657,849 (GRCm39) missense probably damaging 1.00
R7493:Otogl UTSW 10 107,722,843 (GRCm39) missense probably benign 0.06
R7659:Otogl UTSW 10 107,612,981 (GRCm39) missense probably benign 0.19
R7732:Otogl UTSW 10 107,642,525 (GRCm39) missense probably benign 0.01
R7754:Otogl UTSW 10 107,705,407 (GRCm39) missense probably damaging 0.99
R7757:Otogl UTSW 10 107,712,782 (GRCm39) missense probably damaging 1.00
R7800:Otogl UTSW 10 107,722,376 (GRCm39) missense probably damaging 0.99
R7864:Otogl UTSW 10 107,705,428 (GRCm39) missense probably damaging 1.00
R7879:Otogl UTSW 10 107,612,970 (GRCm39) missense probably benign 0.00
R7941:Otogl UTSW 10 107,642,663 (GRCm39) splice site probably null
R7956:Otogl UTSW 10 107,713,887 (GRCm39) missense possibly damaging 0.62
R7988:Otogl UTSW 10 107,731,637 (GRCm39) missense probably damaging 1.00
R8057:Otogl UTSW 10 107,644,476 (GRCm39) missense probably benign 0.00
R8058:Otogl UTSW 10 107,598,287 (GRCm39) missense probably damaging 1.00
R8127:Otogl UTSW 10 107,731,613 (GRCm39) missense probably damaging 1.00
R8143:Otogl UTSW 10 107,642,527 (GRCm39) missense probably damaging 1.00
R8310:Otogl UTSW 10 107,613,461 (GRCm39) missense possibly damaging 0.94
R8319:Otogl UTSW 10 107,689,127 (GRCm39) critical splice donor site probably null
R8339:Otogl UTSW 10 107,625,397 (GRCm39) missense probably benign 0.34
R8339:Otogl UTSW 10 107,625,396 (GRCm39) missense probably damaging 0.99
R8394:Otogl UTSW 10 107,722,326 (GRCm39) critical splice donor site probably null
R8428:Otogl UTSW 10 107,634,597 (GRCm39) missense probably damaging 1.00
R8444:Otogl UTSW 10 107,692,975 (GRCm39) missense probably benign 0.01
R8501:Otogl UTSW 10 107,626,421 (GRCm39) missense probably benign
R8503:Otogl UTSW 10 107,727,987 (GRCm39) missense probably damaging 1.00
R8680:Otogl UTSW 10 107,747,936 (GRCm39) critical splice donor site probably null
R9025:Otogl UTSW 10 107,613,432 (GRCm39) missense probably damaging 0.99
R9090:Otogl UTSW 10 107,652,974 (GRCm39) missense probably null 0.99
R9223:Otogl UTSW 10 107,690,205 (GRCm39) missense probably damaging 0.99
R9268:Otogl UTSW 10 107,616,917 (GRCm39) missense probably damaging 1.00
R9271:Otogl UTSW 10 107,652,974 (GRCm39) missense probably null 0.99
R9356:Otogl UTSW 10 107,617,890 (GRCm39) missense probably damaging 1.00
R9484:Otogl UTSW 10 107,737,156 (GRCm39) missense probably damaging 1.00
R9484:Otogl UTSW 10 107,657,894 (GRCm39) critical splice acceptor site probably null
R9571:Otogl UTSW 10 107,598,364 (GRCm39) missense possibly damaging 0.94
R9731:Otogl UTSW 10 107,735,328 (GRCm39) missense probably damaging 1.00
X0065:Otogl UTSW 10 107,731,643 (GRCm39) missense probably damaging 1.00
X0067:Otogl UTSW 10 107,702,538 (GRCm39) missense probably damaging 1.00
Z1176:Otogl UTSW 10 107,614,734 (GRCm39) missense probably damaging 0.97
Z1176:Otogl UTSW 10 107,613,074 (GRCm39) missense probably benign
Z1176:Otogl UTSW 10 107,624,893 (GRCm39) missense probably benign 0.00
Z1177:Otogl UTSW 10 107,689,258 (GRCm39) missense possibly damaging 0.78
Z1177:Otogl UTSW 10 107,599,119 (GRCm39) nonsense probably null
Z1177:Otogl UTSW 10 107,712,764 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- GGAAGTACTTCATTGCTACCCTG -3'
(R):5'- TATATTGGTGGCTCAAGTCATGGTC -3'

Sequencing Primer
(F):5'- AAGTACTTCATTGCTACCCTGACATG -3'
(R):5'- CTTGCTGAAGTGCACAGT -3'
Posted On 2019-05-13