Mutagenetix > Incidental Mutation

Incidental Mutation 'R6967:Otogl'

542066

Institutional Source

Beutler Lab

Gene Symbol

Otogl

Ensembl Gene

ENSMUSG00000091455

Gene Name

otogelin-like

Synonyms

Gm6924

MMRRC Submission

045077-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107596392-107747995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107649911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1148 (A1148V)

Ref Sequence

ENSEMBL: ENSMUSP00000129467 (fasta)

Gene Model

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

AlphaFold

F7A4A7

Predicted Effect

probably benign
Transcript: ENSMUST00000165341
AA Change: A1148V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129467
Gene: ENSMUSG00000091455
AA Change: A1148V

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

0.0731

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (56/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	A	G	7: 103,708,212 (GRCm39)	I199T	probably benign	Het
Adam23	T	G	1: 63,602,495 (GRCm39)		probably null	Het
Adamts8	C	T	9: 30,865,787 (GRCm39)	T445I	probably benign	Het
Ahi1	T	C	10: 20,864,524 (GRCm39)	V752A	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Bicra	T	C	7: 15,706,130 (GRCm39)	E1437G	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,998 (GRCm39)	S131N	possibly damaging	Het
Ces1f	G	A	8: 93,994,625 (GRCm39)	P262L	probably benign	Het
Chrna2	A	T	14: 66,388,398 (GRCm39)		probably null	Het
Cspg4	G	A	9: 56,797,420 (GRCm39)	V1295M	possibly damaging	Het
D5Ertd579e	T	C	5: 36,773,100 (GRCm39)	T432A	probably benign	Het
Dach1	A	T	14: 98,140,633 (GRCm39)	S456R	probably damaging	Het
Dhx37	T	C	5: 125,499,231 (GRCm39)	D659G	probably benign	Het
Dscaml1	T	C	9: 45,585,821 (GRCm39)	V586A	probably damaging	Het
Efhb	G	T	17: 53,770,196 (GRCm39)	L38I	probably benign	Het
Fbxw10	T	C	11: 62,738,429 (GRCm39)	S108P	possibly damaging	Het
Fmnl2	A	G	2: 52,987,344 (GRCm39)	N313S	possibly damaging	Het
Gga3	T	C	11: 115,482,102 (GRCm39)	E172G	probably damaging	Het
Ggta1	A	G	2: 35,292,734 (GRCm39)	V191A	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hcn4	C	T	9: 58,731,228 (GRCm39)	T145M	unknown	Het
Kirrel3	T	C	9: 34,946,202 (GRCm39)	S654P	probably damaging	Het
Klrb1	A	T	6: 128,687,486 (GRCm39)		probably null	Het
Krt15	T	A	11: 100,025,339 (GRCm39)	D166V	probably damaging	Het
Lipk	T	A	19: 34,017,794 (GRCm39)	Y277*	probably null	Het
Ly6g	A	C	15: 75,030,398 (GRCm39)	N49T	possibly damaging	Het
Ms4a4c	A	T	19: 11,392,191 (GRCm39)	Q4L	probably benign	Het
Nfya	A	C	17: 48,699,932 (GRCm39)		probably benign	Het
Nub1	T	C	5: 24,913,709 (GRCm39)	V530A	probably benign	Het
Ocln	A	T	13: 100,675,796 (GRCm39)	Y232*	probably null	Het
Or10ag59	A	G	2: 87,405,857 (GRCm39)	N143S	possibly damaging	Het
Or2r2	A	G	6: 42,463,947 (GRCm39)	F60S	probably damaging	Het
Or4d2b	C	T	11: 87,780,324 (GRCm39)	V133I	probably benign	Het
Or5b114-ps1	A	G	19: 13,352,815 (GRCm39)	H163R	unknown	Het
Paqr5	C	T	9: 61,880,113 (GRCm39)	W46*	probably null	Het
Psd2	C	A	18: 36,113,385 (GRCm39)	L286M	probably damaging	Het
Ptpn4	A	T	1: 119,612,311 (GRCm39)	Y27*	probably null	Het
Ripk2	A	G	4: 16,158,275 (GRCm39)		probably null	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sbk2	C	T	7: 4,967,146 (GRCm39)		probably null	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Sspo	A	C	6: 48,466,728 (GRCm39)	D4072A	probably benign	Het
St6galnac3	T	C	3: 152,912,345 (GRCm39)	Y214C	probably damaging	Het
Sugp1	T	A	8: 70,513,202 (GRCm39)	D256E	possibly damaging	Het
Sugt1	A	G	14: 79,834,847 (GRCm39)	Y90C	probably benign	Het
Taok2	A	G	7: 126,469,564 (GRCm39)	I1088T	probably damaging	Het
Tasor2	A	T	13: 3,624,819 (GRCm39)	D1710E	probably benign	Het
Tmc7	T	A	7: 118,146,901 (GRCm39)	T459S	probably benign	Het
Tmed11	T	C	5: 108,926,780 (GRCm39)	Y164C	probably damaging	Het
Tmem275	A	G	4: 115,755,491 (GRCm39)	T97A	unknown	Het
Tmem63b	T	C	17: 45,977,558 (GRCm39)	E356G	probably benign	Het
Ttc13	T	C	8: 125,415,357 (GRCm39)	I261V	probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn1r73	A	T	7: 11,490,544 (GRCm39)	K121*	probably null	Het
Zc3h12d	A	T	10: 7,715,644 (GRCm39)	S16C	probably damaging	Het
Zfp292	A	T	4: 34,807,812 (GRCm39)	M1744K	probably 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
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'- AGCTGTCCCCTTAATGATGTC -3'
(R):5'- CCTAGTGCAGATGCCAAAAGC -3'

Sequencing Primer
(F):5'- ATGATGTCCTATGCAAGTACCC -3'
(R):5'- CTTTCGCAACAAGGTAGGTCG -3'

Posted On

2018-11-28