Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02674:Otol1'

303032

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 #

IGL02674

Quality Score

Status

Chromosome

Chromosomal Location

69914946-69936041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69926077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 84 (P84L)

Ref Sequence

ENSEMBL: ENSMUSP00000057607 (fasta)

Gene Model

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

AlphaFold

Q4ZJM7

Predicted Effect

probably benign
Transcript: ENSMUST00000053013
AA Change: P84L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: P84L

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	T	C	15: 72,983,643 (GRCm39)	R689G	probably damaging	Het
Agrn	C	T	4: 156,259,018 (GRCm39)		probably benign	Het
Akna	A	T	4: 63,289,181 (GRCm39)	C1247*	probably null	Het
Appl1	T	G	14: 26,671,418 (GRCm39)	T345P	possibly damaging	Het
Chga	A	G	12: 102,529,160 (GRCm39)	D379G	probably damaging	Het
Chrna6	C	T	8: 27,896,879 (GRCm39)	A333T	probably benign	Het
Col14a1	G	A	15: 55,282,178 (GRCm39)	G813E	unknown	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dnhd1	A	G	7: 105,370,688 (GRCm39)	Q4656R	probably benign	Het
Dock9	A	C	14: 121,833,023 (GRCm39)		probably null	Het
Fat4	A	G	3: 39,037,486 (GRCm39)	N3713D	probably benign	Het
Fsd1	A	T	17: 56,303,483 (GRCm39)	T452S	probably benign	Het
G6pc2	A	G	2: 69,056,910 (GRCm39)		probably null	Het
Gfus	T	C	15: 75,798,238 (GRCm39)	D178G	probably damaging	Het
Itprid1	A	G	6: 55,874,913 (GRCm39)	T288A	probably benign	Het
Kcnh4	C	A	11: 100,637,720 (GRCm39)	V646L	possibly damaging	Het
Kcnk1	T	C	8: 126,751,753 (GRCm39)	Y120H	probably damaging	Het
L3mbtl3	C	T	10: 26,158,711 (GRCm39)	E646K	unknown	Het
Lrrc4c	T	C	2: 97,460,120 (GRCm39)	W249R	probably damaging	Het
Meox1	A	T	11: 101,784,767 (GRCm39)	L22H	probably damaging	Het
Mrgpra4	C	T	7: 47,630,690 (GRCm39)	V304M	probably benign	Het
Ncaph	T	C	2: 126,955,496 (GRCm39)	Y554C	probably damaging	Het
Nfx1	T	C	4: 40,999,717 (GRCm39)		probably null	Het
Or10p1	A	C	10: 129,443,939 (GRCm39)	M137R	possibly damaging	Het
Or8g37	A	G	9: 39,730,934 (GRCm39)		probably null	Het
Pcdhb11	T	C	18: 37,556,667 (GRCm39)	S666P	probably damaging	Het
Pou2f3	T	C	9: 43,050,628 (GRCm39)	K244R	probably damaging	Het
Ppp6r1	T	C	7: 4,649,812 (GRCm39)	N51S	probably damaging	Het
Prdm4	A	T	10: 85,729,263 (GRCm39)	L715M	probably damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rsc1a1	G	T	4: 141,411,406 (GRCm39)	P502Q	probably damaging	Het
Senp1	T	C	15: 97,954,840 (GRCm39)	E448G	probably damaging	Het
Shd	A	G	17: 56,278,554 (GRCm39)	D39G	possibly damaging	Het
Skint5	A	C	4: 113,487,582 (GRCm39)		probably benign	Het
Tmprss15	T	G	16: 78,798,682 (GRCm39)	T667P	possibly damaging	Het
Vps13b	A	T	15: 35,640,104 (GRCm39)	M1325L	probably benign	Het
Zfp263	T	C	16: 3,564,629 (GRCm39)		probably benign	Het
Zfp786	A	G	6: 47,797,427 (GRCm39)	F504L	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
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