Mutagenetix > Incidental Mutation

Incidental Mutation 'R9223:Otogl'

699608

Institutional Source

Beutler Lab

Gene Symbol

Otogl

Ensembl Gene

ENSMUSG00000091455

Gene Name

otogelin-like

Synonyms

Gm6924

MMRRC Submission

068959-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107596392-107747995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107690205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 888 (E888D)

Ref Sequence

ENSEMBL: ENSMUSP00000129467 (fasta)

Gene Model

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

AlphaFold

F7A4A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000165341
AA Change: E888D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129467
Gene: ENSMUSG00000091455
AA Change: E888D

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	C	A	9: 101,820,193 (GRCm39)	D204E	possibly damaging	Het
Aldh3a2	A	G	11: 61,156,037 (GRCm39)	S80P	probably benign	Het
Bcl6b	A	T	11: 70,117,400 (GRCm39)	Y407*	probably null	Het
Ccn2	T	C	10: 24,471,856 (GRCm39)	V49A	probably benign	Het
Cel	TTA	TTATA	2: 28,449,441 (GRCm39)		probably null	Het
Cerkl	A	T	2: 79,171,674 (GRCm39)	C395S	probably damaging	Het
Chst5	C	A	8: 112,617,492 (GRCm39)	V43L	probably benign	Het
Clip1	A	T	5: 123,784,337 (GRCm39)	F271I	probably damaging	Het
Clspn	A	G	4: 126,484,411 (GRCm39)	T1190A	possibly damaging	Het
Col20a1	A	T	2: 180,648,528 (GRCm39)	E938D	probably damaging	Het
Dmrta2	G	A	4: 109,839,779 (GRCm39)	V509M	probably damaging	Het
Dnah7b	T	A	1: 46,361,420 (GRCm39)	M3440K	probably benign	Het
Erlin1	A	G	19: 44,029,184 (GRCm39)		probably null	Het
Fam24b	A	G	7: 130,927,869 (GRCm39)	S107P	probably benign	Het
Fancm	T	A	12: 65,149,358 (GRCm39)	I708N	probably benign	Het
Fbxo11	A	T	17: 88,323,124 (GRCm39)	D12E		Het
Fbxw13	T	C	9: 109,024,116 (GRCm39)	D39G	probably damaging	Het
Gabrb3	T	G	7: 57,466,152 (GRCm39)	L322R	probably damaging	Het
Gm5239	A	T	18: 35,669,672 (GRCm39)	I13F	possibly damaging	Het
Heatr1	A	G	13: 12,419,802 (GRCm39)	Y375C	probably benign	Het
Helq	A	T	5: 100,946,303 (GRCm39)	S13T	possibly damaging	Het
Helz	A	G	11: 107,509,918 (GRCm39)	T514A	probably benign	Het
Hook3	A	G	8: 26,522,552 (GRCm39)	V32A		Het
Htra4	A	G	8: 25,527,048 (GRCm39)	I249T	possibly damaging	Het
Htt	G	T	5: 35,062,692 (GRCm39)	V2809L	probably benign	Het
Ifi203	T	A	1: 173,765,437 (GRCm39)	I46F	probably benign	Het
Kcna2	A	T	3: 107,012,306 (GRCm39)	I296F	possibly damaging	Het
Kndc1	A	G	7: 139,501,357 (GRCm39)	E882G	possibly damaging	Het
Krtap16-1	A	T	11: 99,876,071 (GRCm39)	D444E	probably benign	Het
Lrrtm3	ATTTT	ATTTTT	10: 63,925,035 (GRCm39)		probably null	Het
Mdga2	C	T	12: 66,615,634 (GRCm39)	D658N	possibly damaging	Het
Mkrn1	T	C	6: 39,378,183 (GRCm39)	K316R	possibly damaging	Het
Mmd2	C	T	5: 142,553,666 (GRCm39)	C165Y	probably damaging	Het
Mpdz	A	G	4: 81,202,867 (GRCm39)	F1843L	probably damaging	Het
Mrc2	G	A	11: 105,220,093 (GRCm39)	R338Q	probably damaging	Het
Naip5	C	T	13: 100,364,184 (GRCm39)	R372H	probably benign	Het
Nav2	C	A	7: 49,202,599 (GRCm39)	S1461Y	probably damaging	Het
Nol8	T	A	13: 49,814,738 (GRCm39)	V282D	possibly damaging	Het
Nup98	C	A	7: 101,834,167 (GRCm39)	G265V	possibly damaging	Het
Or1ak2	T	C	2: 36,827,911 (GRCm39)	F260S	probably damaging	Het
Or2d3b	A	G	7: 106,513,980 (GRCm39)	T192A	possibly damaging	Het
Or2h15	C	T	17: 38,442,012 (GRCm39)	E24K	possibly damaging	Het
Or4f58	T	A	2: 111,851,517 (GRCm39)	K227N	possibly damaging	Het
Or4f62	T	A	2: 111,986,473 (GRCm39)	M59K	possibly damaging	Het
Or8k18	G	T	2: 86,085,544 (GRCm39)	F164L	possibly damaging	Het
Pcdhgc4	A	G	18: 37,948,685 (GRCm39)	I34V	possibly damaging	Het
Ppp1r12b	T	C	1: 134,807,376 (GRCm39)	R417G	probably benign	Het
Rtn4	A	G	11: 29,656,778 (GRCm39)	S311G	probably benign	Het
Serinc3	A	G	2: 163,478,812 (GRCm39)	V105A	probably benign	Het
Serpina3f	A	G	12: 104,183,444 (GRCm39)	D102G	possibly damaging	Het
Sik3	A	G	9: 46,066,772 (GRCm39)	I184V	probably damaging	Het
Spopfm2	A	C	3: 94,082,950 (GRCm39)	L287R	probably damaging	Het
Tex35	A	T	1: 156,935,436 (GRCm39)	C21S	probably benign	Het
Tfap2b	T	C	1: 19,282,649 (GRCm39)		probably null	Het
Thbs4	C	T	13: 92,897,998 (GRCm39)	C607Y	probably damaging	Het
Tmem144	A	T	3: 79,734,964 (GRCm39)	N151K	probably benign	Het
Tomm70a	T	A	16: 56,963,166 (GRCm39)	M395K	probably benign	Het
Trim43b	A	C	9: 88,967,663 (GRCm39)	H324Q	probably benign	Het
Vmn2r116	A	T	17: 23,620,141 (GRCm39)	Y625F	probably damaging	Het
Yipf3	A	T	17: 46,559,798 (GRCm39)	N38I	probably damaging	Het
Zfp804b	T	A	5: 6,821,496 (GRCm39)	E522D	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
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
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
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'- AGGACTGCAGCTCCAACATG -3'
(R):5'- TGCTTGGCATCTAGTTAATCCTG -3'

Sequencing Primer
(F):5'- GACTCACTTTTGCTAAGCAGAC -3'
(R):5'- GGCATCTAGTTAATCCTGGGATACAC -3'

Posted On

2022-02-07