Mutagenetix > Incidental Mutation

Incidental Mutation 'R4526:Otogl'

334450

Institutional Source

Beutler Lab

Gene Symbol

Otogl

Ensembl Gene

ENSMUSG00000091455

Gene Name

otogelin-like

Synonyms

Gm6924

MMRRC Submission

041591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107596392-107747995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107722841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 297 (P297S)

Ref Sequence

ENSEMBL: ENSMUSP00000129467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165341]

AlphaFold

F7A4A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000165341
AA Change: P297S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129467
Gene: ENSMUSG00000091455
AA Change: P297S

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,818,535 (GRCm39)	R178C	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adgre4	C	A	17: 56,092,016 (GRCm39)	S92*	probably null	Het
Arl13b	T	C	16: 62,632,374 (GRCm39)	D73G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Crebzf	A	C	7: 90,092,968 (GRCm39)	E16A	possibly damaging	Het
D430041D05Rik	A	G	2: 104,022,778 (GRCm39)		probably null	Het
Dnah1	C	A	14: 31,007,955 (GRCm39)	D2151Y	probably benign	Het
Gli3	A	G	13: 15,888,216 (GRCm39)	K544E	probably damaging	Het
Gm17542	T	C	10: 58,549,435 (GRCm39)	D31G	probably null	Het
Lcn9	A	C	2: 25,714,520 (GRCm39)	K128T	possibly damaging	Het
Lman2l	T	C	1: 36,477,844 (GRCm39)	E164G	probably damaging	Het
Lpin2	T	A	17: 71,544,373 (GRCm39)		probably null	Het
Ly75	G	A	2: 60,161,117 (GRCm39)	T900M	probably benign	Het
Mapk15	A	T	15: 75,867,104 (GRCm39)	I74F	possibly damaging	Het
Myh10	C	T	11: 68,705,875 (GRCm39)	T2007I	probably benign	Het
Nek1	T	C	8: 61,559,978 (GRCm39)	S937P	probably damaging	Het
Oas1b	T	A	5: 120,960,167 (GRCm39)		probably null	Het
Or4x6	T	C	2: 89,949,016 (GRCm39)	K309E	probably benign	Het
Or5l13	T	C	2: 87,779,753 (GRCm39)	T275A	probably benign	Het
Or8h8	C	T	2: 86,753,339 (GRCm39)	C179Y	possibly damaging	Het
Plekhm1	A	G	11: 103,286,130 (GRCm39)	S102P	probably damaging	Het
Plvap	G	A	8: 71,960,415 (GRCm39)	R334W	probably damaging	Het
Polr2b	T	G	5: 77,474,561 (GRCm39)	V466G	probably damaging	Het
Ptpn13	T	C	5: 103,649,335 (GRCm39)	I246T	probably benign	Het
Rims2	A	T	15: 39,301,113 (GRCm39)	K281N	probably damaging	Het
Scamp4	T	C	10: 80,446,891 (GRCm39)	F108S	probably damaging	Het
Snrnp200	A	G	2: 127,071,022 (GRCm39)	N1101S	probably benign	Het
Sntb2	C	A	8: 107,736,595 (GRCm39)	L490M	probably damaging	Het
Ssu2	A	G	6: 112,359,383 (GRCm39)	V79A	possibly damaging	Het
Stard7	A	G	2: 127,139,128 (GRCm39)	S347G	probably benign	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r6	A	G	3: 64,445,145 (GRCm39)	V860A	probably benign	Het
Vmn2r60	A	G	7: 41,844,667 (GRCm39)	T677A	probably damaging	Het
Zfp318	T	A	17: 46,723,284 (GRCm39)	H1762Q	probably benign	Het
Zmynd8	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	2: 165,649,527 (GRCm39)		probably benign	Het
Zng1	A	G	19: 24,935,328 (GRCm39)	Y59H	probably benign	Het

Other mutations in Otogl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R7000:Otogl	UTSW	10	107,615,692 (GRCm39)	missense	probably benign
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'- TGAAGTCATTCCATATTGCAATTACA -3'
(R):5'- CTACGTGTGTCTTCTGAAATGTT -3'

Sequencing Primer
(F):5'- CAACATGCTCCGTTACTTG -3'
(R):5'- CTGGCCTGGAACTCATCAAGTATG -3'

Posted On

2015-08-18