Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00823:Otub1'

12887

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otub1

Ensembl Gene

ENSMUSG00000024767

Gene Name

OTU domain, ubiquitin aldehyde binding 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00823

Quality Score

Status

Chromosome

Chromosomal Location

7175571-7183649 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 7181416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025679] [ENSMUST00000123594] [ENSMUST00000142085]

AlphaFold

Q7TQI3

Predicted Effect

probably benign
Transcript: ENSMUST00000025679

SMART Domains

Protein: ENSMUSP00000025679
Gene: ENSMUSG00000024767

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:Peptidase_C65	40	271	1e-89	PFAM
Pfam:OTU	86	266	1.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123594

SMART Domains

Protein: ENSMUSP00000115195
Gene: ENSMUSG00000024767

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C65	10	241	2e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127241

Predicted Effect

probably benign
Transcript: ENSMUST00000142085

SMART Domains

Protein: ENSMUSP00000122945
Gene: ENSMUSG00000024767

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C65	10	95	2.6e-30	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 77,026,381 (GRCm39)		probably benign	Het
Adam5	T	C	8: 25,308,758 (GRCm39)	E39G	probably benign	Het
Anapc7	G	A	5: 122,571,540 (GRCm39)	W205*	probably null	Het
Arhgap5	C	T	12: 52,565,525 (GRCm39)	T832I	possibly damaging	Het
Arhgef10	T	A	8: 14,990,378 (GRCm39)		probably benign	Het
Atg5	A	G	10: 44,239,040 (GRCm39)	T274A	probably benign	Het
Baiap2l2	G	T	15: 79,168,765 (GRCm39)		probably benign	Het
Brap	T	A	5: 121,803,290 (GRCm39)	M146K	probably damaging	Het
Brpf1	T	C	6: 113,298,847 (GRCm39)	S1074P	probably benign	Het
Camta1	A	C	4: 151,169,058 (GRCm39)	I231R	probably benign	Het
Ccdc15	C	T	9: 37,231,709 (GRCm39)	G205D	probably benign	Het
Cd6	G	T	19: 10,773,758 (GRCm39)		probably benign	Het
Cdh17	T	G	4: 11,783,412 (GRCm39)	S219R	possibly damaging	Het
Cgn	G	A	3: 94,674,519 (GRCm39)	R873W	probably damaging	Het
Ctnna3	C	T	10: 63,373,322 (GRCm39)	P41L	possibly damaging	Het
Dmbt1	T	C	7: 130,659,888 (GRCm39)	W484R	probably benign	Het
Dmd	A	G	X: 83,469,419 (GRCm39)		probably null	Het
Dnah17	C	T	11: 117,937,987 (GRCm39)	V3347I	probably benign	Het
Fgd5	T	A	6: 91,965,440 (GRCm39)	S400T	possibly damaging	Het
Kitl	C	A	10: 99,923,206 (GRCm39)		probably benign	Het
Lamc3	A	T	2: 31,808,533 (GRCm39)	D763V	probably damaging	Het
Lgmn	T	C	12: 102,364,435 (GRCm39)		probably benign	Het
Lpcat2	T	G	8: 93,591,598 (GRCm39)	W81G	possibly damaging	Het
Myh13	A	G	11: 67,246,773 (GRCm39)	I1165V	probably benign	Het
Nf1	A	G	11: 79,456,343 (GRCm39)	D599G	probably damaging	Het
Nin	T	C	12: 70,061,567 (GRCm39)	N2099S	probably benign	Het
Nlrc4	T	C	17: 74,754,985 (GRCm39)	D77G	probably benign	Het
Pabir2	A	T	X: 52,334,208 (GRCm39)	C222S	probably damaging	Het
Pah	A	G	10: 87,406,193 (GRCm39)	Y174C	probably null	Het
Rbbp5	G	A	1: 132,417,444 (GRCm39)	V88I	probably damaging	Het
Scn1a	C	T	2: 66,155,279 (GRCm39)	R560H	probably benign	Het
Snx5	T	C	2: 144,097,485 (GRCm39)	I217V	probably benign	Het
Syne2	T	C	12: 76,036,016 (GRCm39)	S3769P	probably damaging	Het
Tent2	T	C	13: 93,322,905 (GRCm39)	T15A	probably benign	Het
Tmem255b	T	C	8: 13,507,054 (GRCm39)	M261T	probably benign	Het
Top3b	T	C	16: 16,705,486 (GRCm39)	I417T	probably damaging	Het
Tspan2	T	C	3: 102,665,549 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,540,057 (GRCm39)	T34310A	possibly damaging	Het
Ush2a	G	A	1: 188,643,640 (GRCm39)	C4334Y	possibly damaging	Het
Wdpcp	A	G	11: 21,609,995 (GRCm39)	D21G	probably damaging	Het
Yy2	A	C	X: 156,351,207 (GRCm39)	D186E	probably benign	Het

Other mutations in Otub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02755:Otub1	APN	19	7,183,624 (GRCm39)	start codon destroyed	probably benign	0.08
R1545:Otub1	UTSW	19	7,176,571 (GRCm39)	missense	probably benign	0.31
R2261:Otub1	UTSW	19	7,176,861 (GRCm39)	splice site	probably null
R3422:Otub1	UTSW	19	7,176,424 (GRCm39)	missense	probably damaging	1.00
R4583:Otub1	UTSW	19	7,181,801 (GRCm39)	missense	possibly damaging	0.55
R4822:Otub1	UTSW	19	7,181,794 (GRCm39)	missense	probably damaging	1.00
R5267:Otub1	UTSW	19	7,177,357 (GRCm39)	missense	probably damaging	1.00
R5929:Otub1	UTSW	19	7,177,350 (GRCm39)	missense	probably damaging	1.00
R6144:Otub1	UTSW	19	7,176,518 (GRCm39)	nonsense	probably null
R7849:Otub1	UTSW	19	7,177,425 (GRCm39)	missense	probably damaging	0.99
R8098:Otub1	UTSW	19	7,181,794 (GRCm39)	missense	probably damaging	1.00
R8443:Otub1	UTSW	19	7,177,360 (GRCm39)	missense	probably damaging	0.99
R9663:Otub1	UTSW	19	7,176,813 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06