Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Otogl'

651607

Institutional Source

Beutler Lab

Gene Symbol

Otogl

Ensembl Gene

ENSMUSG00000091455

Gene Name

otogelin-like

Synonyms

Gm6924

MMRRC Submission

046029-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107596392-107747995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107731637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 168 (C168Y)

Ref Sequence

ENSEMBL: ENSMUSP00000129467 (fasta)

Gene Model

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

AlphaFold

F7A4A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000165341
AA Change: C168Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129467
Gene: ENSMUSG00000091455
AA Change: C168Y

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

Meta Mutation Damage Score

0.7683

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,324,635 (GRCm39)	T56M	probably damaging	Het
Adamtsl5	C	T	10: 80,181,372 (GRCm39)	S36N	probably benign	Het
Adgrf5	A	T	17: 43,750,704 (GRCm39)		probably benign	Het
Ago1	A	G	4: 126,354,210 (GRCm39)	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,063,865 (GRCm39)	D108G	possibly damaging	Het
Aopep	A	G	13: 63,208,954 (GRCm39)	D357G	probably benign	Het
Arhgef3	A	T	14: 27,123,743 (GRCm39)	D468V	probably benign	Het
Aspn	T	C	13: 49,705,353 (GRCm39)	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,792,485 (GRCm39)	T548A	possibly damaging	Het
Birc6	G	A	17: 74,906,368 (GRCm39)		probably null	Het
Btnl2	A	T	17: 34,577,249 (GRCm39)	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,865,282 (GRCm39)	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,463,024 (GRCm39)		probably null	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Cfap45	A	G	1: 172,357,501 (GRCm39)	D85G	probably damaging	Het
Cfap54	T	A	10: 92,737,941 (GRCm39)	D2319V	unknown	Het
Cma1	T	C	14: 56,181,989 (GRCm39)	M14V	possibly damaging	Het
Cmtm1	T	C	8: 105,036,774 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,249,559 (GRCm39)	H1738R	unknown	Het
Colq	T	A	14: 31,275,794 (GRCm39)	D41V	probably damaging	Het
Cubn	T	C	2: 13,337,166 (GRCm39)	T2437A	probably benign	Het
Dnah14	A	G	1: 181,611,139 (GRCm39)	D3755G	probably damaging	Het
Eprs1	A	G	1: 185,150,545 (GRCm39)	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Fbf1	T	C	11: 116,043,594 (GRCm39)	D405G	probably benign	Het
Fen1	C	T	19: 10,177,674 (GRCm39)	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,834,271 (GRCm39)	M198K	possibly damaging	Het
Hook3	A	T	8: 26,563,675 (GRCm39)	S190T	probably benign	Het
Htra4	A	C	8: 25,520,526 (GRCm39)		probably null	Het
Ighv1-15	T	C	12: 114,621,116 (GRCm39)	I70V	probably benign	Het
Ikzf4	T	A	10: 128,470,324 (GRCm39)	N452Y	probably damaging	Het
Insyn2a	T	G	7: 134,519,427 (GRCm39)	K368Q	probably damaging	Het
Iqcf5	T	A	9: 106,393,020 (GRCm39)	N92K	possibly damaging	Het
Itk	A	G	11: 46,246,661 (GRCm39)	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,690 (GRCm39)	S282P	probably benign	Het
Klhl18	T	A	9: 110,305,577 (GRCm39)	E29V	possibly damaging	Het
Ky	T	C	9: 102,402,614 (GRCm39)	S140P	probably damaging	Het
Lmntd2	T	C	7: 140,793,550 (GRCm39)	E112G	unknown	Het
Lrrc36	C	A	8: 106,178,718 (GRCm39)	D304E	possibly damaging	Het
Macf1	A	T	4: 123,400,273 (GRCm39)	F674Y	probably damaging	Het
Notch1	C	T	2: 26,361,013 (GRCm39)	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,107,941 (GRCm39)	N312K	possibly damaging	Het
Phldb2	T	G	16: 45,645,934 (GRCm39)	T171P	probably benign	Het
Ppef2	A	T	5: 92,386,841 (GRCm39)	F365L	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Ryr1	G	A	7: 28,795,596 (GRCm39)	T1105I	probably benign	Het
Sclt1	T	A	3: 41,617,889 (GRCm39)	*29L	probably null	Het
Scn11a	T	C	9: 119,594,503 (GRCm39)	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,334,262 (GRCm39)	Y288F	probably benign	Het
Setd1a	T	A	7: 127,385,366 (GRCm39)	M691K	probably benign	Het
Sftpc	T	C	14: 70,760,059 (GRCm39)	E66G	probably damaging	Het
Spata31h1	T	C	10: 82,131,934 (GRCm39)	I359V	probably benign	Het
Thnsl2	T	C	6: 71,118,303 (GRCm39)	T42A	probably benign	Het
Tram1	T	C	1: 13,640,199 (GRCm39)	D285G	probably benign	Het
Ttn	G	A	2: 76,675,374 (GRCm39)	P11137L	unknown	Het
Ttn	C	A	2: 76,727,103 (GRCm39)	V5821F	unknown	Het
Ttn	A	T	2: 76,566,584 (GRCm39)	I28103K	probably damaging	Het
Usp38	T	A	8: 81,740,945 (GRCm39)	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,815,753 (GRCm39)	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,577,525 (GRCm39)	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,712,970 (GRCm39)	S103T	possibly damaging	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
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
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
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'- CCTGTAAAAGTCAGCTGAAGAAC -3'
(R):5'- GGATCCCTGCAGTTATTTCTCATG -3'

Sequencing Primer
(F):5'- GTCAGCTGAAGAACAAGTCCTCTC -3'
(R):5'- CCTCCCTCCCTCCCACC -3'

Posted On

2020-09-15