Mutagenetix > Incidental Mutation

Incidental Mutation 'R0094:Otol1'

17974

Institutional Source

Beutler Lab

Gene Symbol

Otol1

Ensembl Gene

ENSMUSG00000027788

Gene Name

otolin 1

Synonyms

Gm414, LOC229389

MMRRC Submission

038380-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0094 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

69914946-69936041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69926016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 64 (A64T)

Ref Sequence

ENSEMBL: ENSMUSP00000057607 (fasta)

Gene Model

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

AlphaFold

Q4ZJM7

Predicted Effect

probably benign
Transcript: ENSMUST00000053013
AA Change: A64T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: A64T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 84.5%
3x: 75.9%
10x: 43.5%
20x: 12.9%

Validation Efficiency

86% (51/59)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,203,427 (GRCm39)		probably benign	Het
4930432E11Rik	A	G	7: 29,260,236 (GRCm39)		noncoding transcript	Het
4931429L15Rik	T	A	9: 46,218,184 (GRCm39)	T185S	possibly damaging	Het
Ahnak	T	A	19: 8,991,257 (GRCm39)	D4180E	probably benign	Het
Amotl1	A	G	9: 14,486,683 (GRCm39)	S441P	probably benign	Het
Ankrd12	A	T	17: 66,277,171 (GRCm39)	D2034E	probably damaging	Het
B3gnt2	T	C	11: 22,786,655 (GRCm39)	R178G	probably damaging	Het
Colgalt1	T	C	8: 72,075,802 (GRCm39)	V483A	probably damaging	Het
Ctsj	A	C	13: 61,151,519 (GRCm39)		probably null	Het
Dap3	T	A	3: 88,834,335 (GRCm39)	M294L	probably benign	Het
Ddias	T	C	7: 92,509,108 (GRCm39)	N269S	possibly damaging	Het
Dsg2	A	T	18: 20,724,910 (GRCm39)	T439S	probably benign	Het
Eif2b1	A	G	5: 124,709,829 (GRCm39)	F250L	probably benign	Het
Emc1	T	A	4: 139,087,796 (GRCm39)	F100Y	probably damaging	Het
Hfm1	T	A	5: 107,065,344 (GRCm39)	M112L	probably benign	Het
Lipg	T	C	18: 75,078,917 (GRCm39)	Y445C	probably benign	Het
Lrp1b	T	C	2: 41,172,042 (GRCm39)		probably benign	Het
Ltbp2	A	G	12: 84,846,200 (GRCm39)	Y897H	probably damaging	Het
Mfap5	G	A	6: 122,502,951 (GRCm39)	V54I	probably damaging	Het
Mvd	C	T	8: 123,166,442 (GRCm39)	R65H	probably benign	Het
Mybpc2	A	G	7: 44,166,328 (GRCm39)	Y221H	probably damaging	Het
Nbeal1	T	A	1: 60,344,468 (GRCm39)	I2323N	possibly damaging	Het
Or14c40	A	G	7: 86,313,502 (GRCm39)	S211G	probably benign	Het
Pcdh8	G	T	14: 80,005,588 (GRCm39)	D933E	probably damaging	Het
Pkd1	A	G	17: 24,800,250 (GRCm39)	T3004A	possibly damaging	Het
Pkhd1	T	A	1: 20,279,470 (GRCm39)	R2949S	probably damaging	Het
Ptpro	T	C	6: 137,363,350 (GRCm39)	Y495H	probably benign	Het
Rad54b	T	C	4: 11,599,681 (GRCm39)	V72A	possibly damaging	Het
Ranbp3	A	G	17: 57,016,338 (GRCm39)		probably benign	Het
Rpa2	T	C	4: 132,497,893 (GRCm39)	S52P	probably damaging	Het
Serping1	T	G	2: 84,603,620 (GRCm39)	R140S	probably benign	Het
Slc34a2	T	C	5: 53,221,310 (GRCm39)	F252S	probably benign	Het
Spata45	A	G	1: 190,772,059 (GRCm39)		probably benign	Het
Sptan1	T	C	2: 29,896,635 (GRCm39)	S1174P	probably benign	Het
Ss18l2	T	C	9: 121,541,699 (GRCm39)	L64P	probably benign	Het
Tmem81	A	G	1: 132,435,787 (GRCm39)	I198V	probably benign	Het
Trappc9	A	T	15: 72,894,929 (GRCm38)		probably benign	Het
Ubr3	C	T	2: 69,781,706 (GRCm39)	T628I	probably damaging	Het
Zzef1	C	T	11: 72,708,791 (GRCm39)	T130I	probably benign	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
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
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

2013-03-25