Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01903:Otud6b'

179598

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otud6b

Ensembl Gene

ENSMUSG00000040550

Gene Name

OTU domain containing 6B

Synonyms

2600013N14Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.455) question?

Stock #

IGL01903

Quality Score

Status

Chromosome

Chromosomal Location

14809503-14826413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14818458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 148 (E148K)

Ref Sequence

ENSEMBL: ENSMUSP00000113553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117268]

AlphaFold

Q8K2H2

Predicted Effect

probably benign
Transcript: ENSMUST00000117268
AA Change: E148K

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113553
Gene: ENSMUSG00000040550
AA Change: E148K

Domain	Start	End	E-Value	Type
coiled coil region	33	106	N/A	INTRINSIC
Pfam:Peptidase_C65	129	322	9.5e-8	PFAM
Pfam:OTU	185	310	6.8e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151012

SMART Domains

Protein: ENSMUSP00000120430
Gene: ENSMUSG00000040550

Domain	Start	End	E-Value	Type
coiled coil region	9	82	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete perinatal lethality, decreased fetal size, and ventricular septal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,949,050 (GRCm39)		probably benign	Het
Adad1	T	A	3: 37,139,231 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,567,633 (GRCm39)	D70E	probably benign	Het
Atat1	T	A	17: 36,208,692 (GRCm39)	I380L	probably benign	Het
Ccnj	A	G	19: 40,834,454 (GRCm39)	E351G	probably damaging	Het
Clca4b	A	T	3: 144,634,020 (GRCm39)	Y132N	probably damaging	Het
Cttnbp2	A	C	6: 18,501,964 (GRCm39)	V16G	probably damaging	Het
Gcdh	A	T	8: 85,615,233 (GRCm39)	L389Q	probably damaging	Het
Ggta1	A	T	2: 35,292,569 (GRCm39)	F258Y	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm3696	T	A	14: 18,434,983 (GRCm39)		probably benign	Het
Gramd2b	A	T	18: 56,607,101 (GRCm39)	S72C	probably damaging	Het
Hal	G	A	10: 93,336,469 (GRCm39)		probably benign	Het
Haus4	A	T	14: 54,779,886 (GRCm39)	S288T	possibly damaging	Het
Herc1	A	T	9: 66,294,154 (GRCm39)	K499*	probably null	Het
Hyou1	C	T	9: 44,292,438 (GRCm39)		probably benign	Het
Kng2	C	T	16: 22,806,540 (GRCm39)	R553Q	possibly damaging	Het
Leng9	G	A	7: 4,151,746 (GRCm39)	A310V	probably damaging	Het
Magi3	G	T	3: 103,958,526 (GRCm39)	Q520K	possibly damaging	Het
Mark1	A	G	1: 184,661,577 (GRCm39)		probably benign	Het
Mybl1	T	A	1: 9,741,801 (GRCm39)		probably null	Het
Ncapd2	A	G	6: 125,154,423 (GRCm39)	S598P	probably benign	Het
Or14j5	T	C	17: 37,920,758 (GRCm39)	I295V	possibly damaging	Het
Or4k47	T	C	2: 111,452,003 (GRCm39)	K139E	probably benign	Het
Or5a3	G	A	19: 12,400,047 (GRCm39)	V125I	probably benign	Het
Or5aq1	A	C	2: 86,965,723 (GRCm39)		probably null	Het
Pgghg	A	G	7: 140,526,741 (GRCm39)	Q686R	probably benign	Het
Pkhd1	C	A	1: 20,268,361 (GRCm39)	C3339F	probably damaging	Het
Pla2g4a	T	C	1: 149,716,370 (GRCm39)	D697G	possibly damaging	Het
Serping1	A	T	2: 84,600,116 (GRCm39)		probably null	Het
Sfxn4	T	C	19: 60,847,118 (GRCm39)	Y55C	probably damaging	Het
Sh3bp5l	A	G	11: 58,236,864 (GRCm39)	R274G	probably damaging	Het
Snx13	A	G	12: 35,135,968 (GRCm39)	T88A	probably benign	Het
Spz1	G	T	13: 92,711,407 (GRCm39)	N356K	probably damaging	Het
Taf2	A	T	15: 54,923,412 (GRCm39)	F288L	probably benign	Het
Tti1	T	C	2: 157,842,542 (GRCm39)	E829G	probably benign	Het
Ube2z	T	C	11: 95,955,826 (GRCm39)	D92G	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r7	A	G	3: 64,626,864 (GRCm39)	Y142H	probably benign	Het
Zfp397	T	A	18: 24,093,086 (GRCm39)	N190K	probably benign	Het

Other mutations in Otud6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Otud6b	APN	4	14,811,732 (GRCm39)	missense	probably damaging	1.00
IGL01293:Otud6b	APN	4	14,822,682 (GRCm39)	splice site	probably benign
IGL02193:Otud6b	APN	4	14,812,543 (GRCm39)	missense	probably damaging	0.96
IGL03372:Otud6b	APN	4	14,812,519 (GRCm39)	missense	possibly damaging	0.95
PIT4402001:Otud6b	UTSW	4	14,818,185 (GRCm39)	missense	probably damaging	0.99
R0587:Otud6b	UTSW	4	14,815,661 (GRCm39)	missense	probably benign	0.08
R0841:Otud6b	UTSW	4	14,812,532 (GRCm39)	missense	probably benign	0.02
R1145:Otud6b	UTSW	4	14,812,532 (GRCm39)	missense	probably benign	0.02
R1145:Otud6b	UTSW	4	14,812,532 (GRCm39)	missense	probably benign	0.02
R1416:Otud6b	UTSW	4	14,818,473 (GRCm39)	missense	probably damaging	0.98
R1676:Otud6b	UTSW	4	14,825,617 (GRCm39)	missense	probably damaging	0.99
R4982:Otud6b	UTSW	4	14,815,607 (GRCm39)	missense	probably damaging	1.00
R5024:Otud6b	UTSW	4	14,826,293 (GRCm39)	missense	probably damaging	1.00
R5615:Otud6b	UTSW	4	14,818,187 (GRCm39)	missense	possibly damaging	0.52
R6327:Otud6b	UTSW	4	14,826,496 (GRCm39)	unclassified	probably benign
R6419:Otud6b	UTSW	4	14,822,766 (GRCm39)	missense	possibly damaging	0.95
R6713:Otud6b	UTSW	4	14,822,739 (GRCm39)	missense	probably benign	0.34
R7073:Otud6b	UTSW	4	14,811,743 (GRCm39)	missense	probably damaging	1.00
R7423:Otud6b	UTSW	4	14,825,858 (GRCm39)	splice site	probably null
R7743:Otud6b	UTSW	4	14,818,389 (GRCm39)	missense	possibly damaging	0.81
R7861:Otud6b	UTSW	4	14,826,414 (GRCm39)	missense	probably benign
R8095:Otud6b	UTSW	4	14,825,614 (GRCm39)	missense	probably damaging	1.00
R9200:Otud6b	UTSW	4	14,811,712 (GRCm39)	nonsense	probably null
R9492:Otud6b	UTSW	4	14,818,349 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07