Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03376:Otol1'

420493

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otol1

Ensembl Gene

ENSMUSG00000027788

Gene Name

otolin 1

Synonyms

Gm414, LOC229389

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03376

Quality Score

Status

Chromosome

Chromosomal Location

70007613-70028708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70027512 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 279 (E279G)

Ref Sequence

ENSEMBL: ENSMUSP00000057607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053013]

Predicted Effect

probably damaging
Transcript: ENSMUST00000053013
AA Change: E279G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: E279G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Collagen	116	175	8.8e-11	PFAM
internal_repeat_2	183	229	1.02e-7	PROSPERO
Pfam:Collagen	232	302	2.4e-9	PFAM
low complexity region	328	340	N/A	INTRINSIC
C1Q	341	475	9.83e-51	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1b2	T	C	8: 69,102,159		probably benign	Het
Ccdc122	A	G	14: 77,068,912	E41G	probably damaging	Het
Cdh3	C	T	8: 106,541,404	T357I	probably benign	Het
Cfap57	T	A	4: 118,584,720	Q717L	probably damaging	Het
Cfap58	A	T	19: 48,034,725	T859S	possibly damaging	Het
Cmtr1	C	T	17: 29,691,411	R497C	probably benign	Het
Csmd2	T	C	4: 128,517,671	I2494T	probably benign	Het
Dmkn	C	T	7: 30,771,242	T385I	possibly damaging	Het
Eml3	A	G	19: 8,933,790	D260G	probably damaging	Het
Gbf1	T	C	19: 46,262,521	F493L	possibly damaging	Het
Gjb5	C	T	4: 127,356,255	R32H	probably damaging	Het
Hpx	C	T	7: 105,592,251		probably benign	Het
Ikzf3	T	A	11: 98,488,953	H163L	probably damaging	Het
Irak3	G	A	10: 120,146,636		probably benign	Het
Itih5	G	A	2: 10,206,773	V275I	probably benign	Het
Klc1	G	T	12: 111,775,953	E174D	probably damaging	Het
Ly6g6e	A	G	17: 35,078,232	*108W	probably null	Het
Mcph1	T	C	8: 18,596,973	S31P	probably damaging	Het
Mettl4	A	T	17: 94,735,371	S346T	probably damaging	Het
Myo3a	A	T	2: 22,600,074		probably benign	Het
Olfr703	T	A	7: 106,845,470	N286K	probably damaging	Het
Pappa	T	A	4: 65,196,834	N722K	probably benign	Het
Pramel7	A	G	2: 87,489,603	S449P	probably damaging	Het
Rassf9	A	G	10: 102,545,198	N145S	probably damaging	Het
Robo2	T	C	16: 73,956,492	I158M	probably damaging	Het
Sbf1	A	G	15: 89,289,016		probably benign	Het
Slc30a8	C	T	15: 52,306,457	R27*	probably null	Het
Tmco2	T	A	4: 121,109,052	T36S	probably benign	Het
Tns4	T	C	11: 99,078,556	S360G	probably benign	Het
Vwa8	A	G	14: 79,183,134		probably null	Het
Wwc1	C	T	11: 35,852,294	R900Q	possibly damaging	Het
Zzef1	T	C	11: 72,876,551		probably benign	Het

Other mutations in Otol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01551:Otol1	APN	3	70027724	missense	probably damaging	1.00
IGL01664:Otol1	APN	3	70027797	missense	probably benign	0.01
IGL02205:Otol1	APN	3	70018596	missense	probably benign
IGL02445:Otol1	APN	3	70028034	missense	probably damaging	1.00
IGL02674:Otol1	APN	3	70018744	missense	probably benign	0.01
R0094:Otol1	UTSW	3	70018683	missense	probably benign	0.03
R0492:Otol1	UTSW	3	70027784	missense	probably damaging	0.99
R0504:Otol1	UTSW	3	70027604	missense	probably damaging	1.00
R1932:Otol1	UTSW	3	70028104	missense	probably benign	0.01
R2049:Otol1	UTSW	3	70018836	missense	probably benign	0.06
R2321:Otol1	UTSW	3	70018525	nonsense	probably null
R4042:Otol1	UTSW	3	70027779	missense	probably damaging	1.00
R4043:Otol1	UTSW	3	70027779	missense	probably damaging	1.00
R4044:Otol1	UTSW	3	70027779	missense	probably damaging	1.00
R4092:Otol1	UTSW	3	70027785	missense	probably damaging	0.99
R4433:Otol1	UTSW	3	70018548	missense	probably benign	0.02
R4993:Otol1	UTSW	3	70018878	missense	probably benign	0.07
R6921:Otol1	UTSW	3	70028100	missense	possibly damaging	0.89
R6983:Otol1	UTSW	3	70028041	missense	probably damaging	1.00
R7095:Otol1	UTSW	3	70018694	missense	probably benign	0.00
R7619:Otol1	UTSW	3	70027869	missense	probably damaging	1.00
RF019:Otol1	UTSW	3	70018600	missense	probably benign	0.00
X0062:Otol1	UTSW	3	70027640	missense	probably damaging	1.00

Posted On

2016-08-02