Mutagenetix > Incidental Mutation

Incidental Mutation 'R4044:Otol1'

313974

Institutional Source

Beutler Lab

Gene Symbol

Otol1

Ensembl Gene

ENSMUSG00000027788

Gene Name

otolin 1

Synonyms

Gm414, LOC229389

MMRRC Submission

040967-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69914946-69936041 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69935112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 368 (D368G)

Ref Sequence

ENSEMBL: ENSMUSP00000057607 (fasta)

Gene Model

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

AlphaFold

Q4ZJM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000053013
AA Change: D368G

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

SMART Domains

Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: D368G

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	A	9: 89,044,347 (GRCm39)		noncoding transcript	Het
Ada	A	T	2: 163,577,380 (GRCm39)	I36N	probably damaging	Het
Armh3	A	T	19: 45,808,763 (GRCm39)	Y643N	probably damaging	Het
Atg7	T	C	6: 114,678,939 (GRCm39)	V384A	probably benign	Het
Ccl1	T	A	11: 82,070,519 (GRCm39)	I18L	probably benign	Het
Cep70	T	A	9: 99,144,662 (GRCm39)	C66S	possibly damaging	Het
D16Ertd472e	A	T	16: 78,372,894 (GRCm39)	D14E	probably damaging	Het
Dnah9	T	C	11: 66,024,461 (GRCm39)	K278E	probably benign	Het
Dsg1a	C	A	18: 20,457,087 (GRCm39)	N153K	probably damaging	Het
Galnt5	T	A	2: 57,888,472 (GRCm39)	I24N	probably damaging	Het
Grid1	A	T	14: 35,172,358 (GRCm39)		probably benign	Het
Gtf2a1	T	C	12: 91,542,441 (GRCm39)	H47R	probably benign	Het
Igf1r	A	G	7: 67,839,810 (GRCm39)	T706A	possibly damaging	Het
Itih4	A	T	14: 30,616,995 (GRCm39)	N517I	probably damaging	Het
Jam3	C	A	9: 27,013,159 (GRCm39)		probably null	Het
Katnip	A	G	7: 125,467,913 (GRCm39)	I1366V	probably benign	Het
Klk1b4	A	G	7: 43,860,179 (GRCm39)	M98V	probably benign	Het
Kndc1	A	G	7: 139,504,044 (GRCm39)	E1116G	probably benign	Het
Ksr2	C	T	5: 117,693,127 (GRCm39)	R192*	probably null	Het
L3mbtl4	T	C	17: 69,084,909 (GRCm39)	S607P	possibly damaging	Het
Map6	T	C	7: 98,917,256 (GRCm39)	C10R	probably damaging	Het
Myo3a	A	G	2: 22,467,712 (GRCm39)	E322G	probably damaging	Het
Nell1	A	G	7: 49,869,367 (GRCm39)	N214S	probably damaging	Het
Npm3	T	C	19: 45,736,692 (GRCm39)	E149G	possibly damaging	Het
Or4k35	C	T	2: 111,099,927 (GRCm39)	V262I	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Orc3	G	A	4: 34,587,055 (GRCm39)	Q345*	probably null	Het
Pals1	G	A	12: 78,871,613 (GRCm39)	E398K	probably benign	Het
Pramel26	T	A	4: 143,538,170 (GRCm39)	N267I	probably benign	Het
Prss40	G	T	1: 34,599,960 (GRCm39)	S9*	probably null	Het
Radx	C	T	X: 138,407,752 (GRCm39)	S364L	probably damaging	Het
Reln	A	T	5: 22,333,630 (GRCm39)	V264D	possibly damaging	Het
Rpp40	A	G	13: 36,082,549 (GRCm39)	C275R	probably benign	Het
Scaf1	G	A	7: 44,655,798 (GRCm39)		probably benign	Het
Sncaip	A	G	18: 53,040,475 (GRCm39)	T890A	probably benign	Het
Spata6l	A	T	19: 28,923,183 (GRCm39)	C80S	possibly damaging	Het
Thada	A	G	17: 84,749,135 (GRCm39)	V612A	probably benign	Het
Tsnaxip1	G	A	8: 106,560,177 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,840,662 (GRCm39)	L1627F	probably benign	Het
Vrtn	T	C	12: 84,695,844 (GRCm39)	I198T	probably damaging	Het
Wnt9b	T	C	11: 103,622,824 (GRCm39)	D193G	probably damaging	Het
Znrd2	T	C	19: 5,780,431 (GRCm39)	E189G	probably damaging	Het
Zswim5	A	G	4: 116,843,899 (GRCm39)	D979G	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGGCGATTCTGGTCCTAAAG -3'
(R):5'- GAGCGTCTCTCTGGATTTGAAC -3'

Sequencing Primer
(F):5'- GAGATAGGTTCTCCTGGTTTCACC -3'
(R):5'- AACTGCTTCCTGTTGCGG -3'

Posted On

2015-04-30