Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02445:Otol1'

293561

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otol1

Ensembl Gene

ENSMUSG00000027788

Gene Name

otolin 1

Synonyms

Gm414, LOC229389

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02445

Quality Score

Status

Chromosome

Chromosomal Location

69914946-69936041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69935367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 453 (D453V)

Ref Sequence

ENSEMBL: ENSMUSP00000057607 (fasta)

Gene Model

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

AlphaFold

Q4ZJM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000053013
AA Change: D453V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: D453V

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,383,198 (GRCm39)	T2127M	probably damaging	Het
Acp2	A	G	2: 91,036,606 (GRCm39)	D175G	possibly damaging	Het
Adamts12	T	C	15: 11,286,798 (GRCm39)	L801P	probably damaging	Het
Adcy10	T	G	1: 165,398,313 (GRCm39)	V1470G	possibly damaging	Het
Ankar	T	G	1: 72,705,524 (GRCm39)	K829Q	probably benign	Het
Arhgef10l	T	C	4: 140,274,318 (GRCm39)	Y531C	probably benign	Het
Atm	T	C	9: 53,365,630 (GRCm39)	I2590V	probably benign	Het
Brme1	T	A	8: 84,886,137 (GRCm39)	M31K	probably benign	Het
Cblb	T	C	16: 51,986,668 (GRCm39)	L485P	probably damaging	Het
Col4a1	T	C	8: 11,283,911 (GRCm39)		probably benign	Het
Coprs	T	C	8: 13,935,797 (GRCm39)	K74R	possibly damaging	Het
Cul3	A	T	1: 80,281,886 (GRCm39)	L31M	possibly damaging	Het
Cyp3a59	C	A	5: 146,033,463 (GRCm39)	Q200K	probably benign	Het
Ddx19b	C	A	8: 111,735,456 (GRCm39)	V402L	probably damaging	Het
Disc1	T	A	8: 125,875,142 (GRCm39)		probably benign	Het
Dsg4	C	T	18: 20,579,307 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,963 (GRCm39)	Y442S	probably damaging	Het
Dtl	C	T	1: 191,290,172 (GRCm39)		probably null	Het
Ezh1	A	C	11: 101,101,513 (GRCm39)	V175G	possibly damaging	Het
Hepacam2	C	T	6: 3,483,481 (GRCm39)	G100D	probably damaging	Het
Herc1	T	A	9: 66,340,764 (GRCm39)	H1704Q	possibly damaging	Het
Itprid2	G	A	2: 79,487,842 (GRCm39)	E642K	probably damaging	Het
Kif26a	T	C	12: 112,140,177 (GRCm39)	S469P	probably damaging	Het
Lefty1	T	C	1: 180,765,242 (GRCm39)	M270T	probably benign	Het
Nap1l3	A	T	X: 121,305,752 (GRCm39)	V322D	probably damaging	Het
Ndufv2	A	G	17: 66,387,889 (GRCm39)		probably benign	Het
Or14j5	A	T	17: 38,162,008 (GRCm39)	H175L	probably damaging	Het
Or4p18	G	A	2: 88,232,456 (GRCm39)	T274I	possibly damaging	Het
Or8b55	T	C	9: 38,726,901 (GRCm39)	I34T	possibly damaging	Het
Papolb	G	A	5: 142,514,480 (GRCm39)	H388Y	probably benign	Het
Ppp1r10	A	G	17: 36,237,094 (GRCm39)	E128G	probably damaging	Het
Prss12	T	A	3: 123,280,669 (GRCm39)	D451E	probably damaging	Het
Psmc1	T	C	12: 100,081,087 (GRCm39)		probably benign	Het
Pygo1	T	A	9: 72,833,222 (GRCm39)	I10N	probably benign	Het
Rab31	C	T	17: 66,028,998 (GRCm39)		probably null	Het
Ret	G	A	6: 118,158,860 (GRCm39)	T184I	probably damaging	Het
Rhd	A	T	4: 134,611,481 (GRCm39)	M214L	possibly damaging	Het
Ripor3	C	A	2: 167,834,682 (GRCm39)		probably benign	Het
Sec16a	A	G	2: 26,312,052 (GRCm39)	L2036P	probably benign	Het
Slc26a3	C	A	12: 31,507,051 (GRCm39)	D335E	possibly damaging	Het
Taf6	A	G	5: 138,182,756 (GRCm39)		probably benign	Het
Tnk2	T	C	16: 32,494,408 (GRCm39)	V442A	probably benign	Het
Virma	A	G	4: 11,527,029 (GRCm39)	M1143V	probably damaging	Het
Vmn2r77	A	T	7: 86,452,848 (GRCm39)	R522*	probably null	Het
Vmn2r-ps129	A	G	17: 23,227,393 (GRCm39)		noncoding transcript	Het
Zfp473	A	G	7: 44,383,107 (GRCm39)	C408R	probably damaging	Het

Other mutations in Otol1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01551:Otol1	APN	3	69,935,057 (GRCm39)	missense	probably damaging	1.00
IGL01664:Otol1	APN	3	69,935,130 (GRCm39)	missense	probably benign	0.01
IGL02205:Otol1	APN	3	69,925,929 (GRCm39)	missense	probably benign
IGL02674:Otol1	APN	3	69,926,077 (GRCm39)	missense	probably benign	0.01
IGL03376:Otol1	APN	3	69,934,845 (GRCm39)	missense	probably damaging	0.96
R0094:Otol1	UTSW	3	69,926,016 (GRCm39)	missense	probably benign	0.03
R0492:Otol1	UTSW	3	69,935,117 (GRCm39)	missense	probably damaging	0.99
R0504:Otol1	UTSW	3	69,934,937 (GRCm39)	missense	probably damaging	1.00
R1932:Otol1	UTSW	3	69,935,437 (GRCm39)	missense	probably benign	0.01
R2049:Otol1	UTSW	3	69,926,169 (GRCm39)	missense	probably benign	0.06
R2321:Otol1	UTSW	3	69,925,858 (GRCm39)	nonsense	probably null
R4042:Otol1	UTSW	3	69,935,112 (GRCm39)	missense	probably damaging	1.00
R4043:Otol1	UTSW	3	69,935,112 (GRCm39)	missense	probably damaging	1.00
R4044:Otol1	UTSW	3	69,935,112 (GRCm39)	missense	probably damaging	1.00
R4092:Otol1	UTSW	3	69,935,118 (GRCm39)	missense	probably damaging	0.99
R4433:Otol1	UTSW	3	69,925,881 (GRCm39)	missense	probably benign	0.02
R4993:Otol1	UTSW	3	69,926,211 (GRCm39)	missense	probably benign	0.07
R6921:Otol1	UTSW	3	69,935,433 (GRCm39)	missense	possibly damaging	0.89
R6983:Otol1	UTSW	3	69,935,374 (GRCm39)	missense	probably damaging	1.00
R7095:Otol1	UTSW	3	69,926,027 (GRCm39)	missense	probably benign	0.00
R7619:Otol1	UTSW	3	69,935,202 (GRCm39)	missense	probably damaging	1.00
R8368:Otol1	UTSW	3	69,935,199 (GRCm39)	missense	probably damaging	1.00
R8851:Otol1	UTSW	3	69,935,299 (GRCm39)	missense	probably damaging	1.00
RF019:Otol1	UTSW	3	69,925,933 (GRCm39)	missense	probably benign	0.00
X0062:Otol1	UTSW	3	69,934,973 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16