Mutagenetix > Incidental Mutation

Incidental Mutation 'R5482:Otogl'

434396

Institutional Source

Beutler Lab

Gene Symbol

Otogl

Ensembl Gene

ENSMUSG00000091455

Gene Name

otogelin-like

Synonyms

Gm6924

MMRRC Submission

043043-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5482 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

107596392-107747995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107657802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1043 (I1043F)

Ref Sequence

ENSEMBL: ENSMUSP00000129467 (fasta)

Gene Model

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

AlphaFold

F7A4A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000165341
AA Change: I1043F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129467
Gene: ENSMUSG00000091455
AA Change: I1043F

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

0.3101

Coding Region Coverage

1x: 98.9%
3x: 97.4%
10x: 94.5%
20x: 87.6%

Validation Efficiency

99% (68/69)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230109A22Rik	T	C	15: 25,139,036 (GRCm39)		noncoding transcript	Het
Abca15	T	C	7: 119,968,370 (GRCm39)	L801P	probably damaging	Het
Acap3	A	G	4: 155,984,613 (GRCm39)	D212G	probably benign	Het
Acsl6	G	A	11: 54,217,964 (GRCm39)	D166N	probably damaging	Het
Acy1	T	C	9: 106,311,838 (GRCm39)		probably benign	Het
Adgrl3	A	G	5: 81,942,360 (GRCm39)	N1368S	probably damaging	Het
Akap5	T	C	12: 76,375,600 (GRCm39)	I344T	probably benign	Het
Aplp1	A	G	7: 30,139,600 (GRCm39)	F399S	probably damaging	Het
Arap3	A	G	18: 38,107,727 (GRCm39)	S1302P	possibly damaging	Het
Bik	T	G	15: 83,428,335 (GRCm39)	V121G	probably damaging	Het
Birc6	A	T	17: 74,948,777 (GRCm39)	M3069L	possibly damaging	Het
Birc6	A	G	17: 74,969,685 (GRCm39)	T4237A	probably damaging	Het
Btn2a2	T	C	13: 23,670,557 (GRCm39)	N59D	probably benign	Het
Cabyr	A	G	18: 12,884,496 (GRCm39)	S328G	possibly damaging	Het
Cfap57	C	T	4: 118,426,838 (GRCm39)	G1067R	probably benign	Het
Cryl1	A	T	14: 57,550,469 (GRCm39)	F132I	probably damaging	Het
Dipk1a	C	G	5: 108,057,529 (GRCm39)	C343S	probably damaging	Het
Dnah8	G	A	17: 31,019,521 (GRCm39)	E3865K	probably damaging	Het
Dock3	G	A	9: 106,855,937 (GRCm39)	R741*	probably null	Het
Fsip2	C	T	2: 82,815,654 (GRCm39)	L3796F	possibly damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm5535	C	A	2: 144,016,492 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,695,055 (GRCm39)	M202K	probably damaging	Het
Hecw2	T	A	1: 53,965,360 (GRCm39)	M489L	probably benign	Het
Lrrk1	A	G	7: 65,980,418 (GRCm39)	I254T	probably benign	Het
Lrrn3	G	A	12: 41,502,386 (GRCm39)	L644F	probably benign	Het
Lrrn3	A	C	12: 41,502,387 (GRCm39)	C643W	probably damaging	Het
Nr2f6	A	T	8: 71,827,182 (GRCm39)	I373N	probably damaging	Het
Nt5dc3	A	G	10: 86,647,395 (GRCm39)	Y130C	probably damaging	Het
Or5b12	T	C	19: 12,897,269 (GRCm39)	T135A	probably damaging	Het
Or6c3	T	C	10: 129,308,947 (GRCm39)	Y129H	probably benign	Het
Padi3	G	A	4: 140,523,154 (GRCm39)	T302I	probably damaging	Het
Pcdhgb5	A	G	18: 37,864,585 (GRCm39)	N127D	probably damaging	Het
Pign	A	G	1: 105,474,435 (GRCm39)	F876L	probably benign	Het
Pip5k1c	A	G	10: 81,128,897 (GRCm39)	E2G	probably damaging	Het
Ppp1r18	G	A	17: 36,184,771 (GRCm39)	E141K	probably damaging	Het
Ralbp1	A	C	17: 66,168,563 (GRCm39)	Y247*	probably null	Het
Ripply2	A	G	9: 86,897,620 (GRCm39)	E8G	possibly damaging	Het
Rufy3	TAAGCA	TA	5: 88,785,191 (GRCm39)		probably null	Het
Skint2	T	G	4: 112,483,076 (GRCm39)	C160W	probably damaging	Het
Sun2	C	T	15: 79,621,712 (GRCm39)	R172Q	probably benign	Het
Syna	A	G	5: 134,588,028 (GRCm39)	L307P	possibly damaging	Het
Tlcd3b	A	G	7: 126,426,660 (GRCm39)	T78A	possibly damaging	Het
Trappc12	T	C	12: 28,741,324 (GRCm39)	K795R	probably damaging	Het
Trmt9b	A	T	8: 36,979,203 (GRCm39)	M269L	probably benign	Het
Ttll11	A	G	2: 35,642,418 (GRCm39)	S638P	probably damaging	Het
Usp2	G	A	9: 44,000,480 (GRCm39)		probably null	Het
Vmn2r26	A	T	6: 124,038,285 (GRCm39)	E620V	possibly damaging	Het
Wdr36	A	T	18: 32,974,957 (GRCm39)	H103L	probably benign	Het
Wnt5b	T	C	6: 119,423,392 (GRCm39)	T78A	probably benign	Het
Zc2hc1b	C	T	10: 13,029,270 (GRCm39)	R146Q	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
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'- TGAGTATACTCCAGTTTCTGAAGTC -3'
(R):5'- CTTACTGGAAAGCAGTACTGTATTC -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- AAAGCAGTACTGTATTCCCTCTTTTG -3'

Posted On

2016-10-06