Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02205:Otol1'

284440

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 #

IGL02205

Quality Score

Status

Chromosome

Chromosomal Location

69914946-69936041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69925929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 35 (S35P)

Ref Sequence

ENSEMBL: ENSMUSP00000057607 (fasta)

Gene Model

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

AlphaFold

Q4ZJM7

Predicted Effect

probably benign
Transcript: ENSMUST00000053013
AA Change: S35P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: S35P

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	T	G	11: 117,725,982 (GRCm39)	L150R	probably damaging	Het
Ankrd27	T	G	7: 35,316,364 (GRCm39)	D543E	probably damaging	Het
Anks1b	T	G	10: 89,906,956 (GRCm39)	L258V	probably benign	Het
Cacna1i	T	C	15: 80,257,152 (GRCm39)	F1087S	probably benign	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Cmip	G	A	8: 118,181,714 (GRCm39)	V674I	probably damaging	Het
Col4a2	C	T	8: 11,481,305 (GRCm39)	Q826*	probably null	Het
Ctdsp1	C	T	1: 74,432,993 (GRCm39)	A92V	possibly damaging	Het
Dnajc10	T	A	2: 80,179,702 (GRCm39)	S745R	possibly damaging	Het
Dpp4	T	C	2: 62,182,601 (GRCm39)	Y560C	probably damaging	Het
Fbxl6	A	G	15: 76,421,541 (GRCm39)	M232T	probably benign	Het
Gm5414	A	G	15: 101,534,304 (GRCm39)	F267L	probably benign	Het
Heatr5a	A	G	12: 51,924,120 (GRCm39)	I2031T	probably damaging	Het
Hmcn2	T	G	2: 31,290,139 (GRCm39)	V2324G	probably damaging	Het
Hnmt	A	T	2: 23,909,157 (GRCm39)	N85K	probably damaging	Het
Kcng4	G	T	8: 120,352,822 (GRCm39)	R363S	probably damaging	Het
Kif18a	T	C	2: 109,137,363 (GRCm39)		probably benign	Het
Lrrc8b	A	T	5: 105,629,703 (GRCm39)	Y683F	probably benign	Het
Mepce	G	T	5: 137,782,757 (GRCm39)	T523K	probably benign	Het
Mroh1	T	C	15: 76,321,439 (GRCm39)	V1040A	possibly damaging	Het
Myof	A	G	19: 37,913,083 (GRCm39)	Y1470H	probably damaging	Het
Or5p50	A	G	7: 107,421,798 (GRCm39)	Y293H	probably damaging	Het
P4htm	T	C	9: 108,459,161 (GRCm39)	D257G	probably benign	Het
Pcdhb15	A	G	18: 37,607,010 (GRCm39)	T81A	probably damaging	Het
Polg2	T	C	11: 106,669,946 (GRCm39)	E108G	probably benign	Het
Rfx7	T	A	9: 72,514,932 (GRCm39)	H143Q	probably damaging	Het
Sf3b2	A	G	19: 5,333,765 (GRCm39)	V611A	probably benign	Het
Slc10a7	G	T	8: 79,423,932 (GRCm39)	K203N	probably benign	Het
Slc12a5	T	A	2: 164,838,399 (GRCm39)	V1046D	probably benign	Het
Tacc2	A	T	7: 130,228,412 (GRCm39)	D1718V	probably damaging	Het
Unc79	T	A	12: 103,045,260 (GRCm39)	I812N	probably damaging	Het
Vps13c	A	G	9: 67,790,736 (GRCm39)	Y338C	probably damaging	Het
Wdr17	T	C	8: 55,149,335 (GRCm39)	Y31C	probably damaging	Het
Zfp654	A	T	16: 64,606,329 (GRCm39)	N624K	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
IGL02445:Otol1	APN	3	69,935,367 (GRCm39)	missense	probably damaging	1.00
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