Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02193:Otud6b'

283973

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 #

IGL02193

Quality Score

Status

Chromosome

Chromosomal Location

14809503-14826413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14812543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 268 (H268R)

Ref Sequence

ENSEMBL: ENSMUSP00000113553 (fasta)

Gene Model

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

AlphaFold

Q8K2H2

Predicted Effect

probably damaging
Transcript: ENSMUST00000117268
AA Change: H268R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113553
Gene: ENSMUSG00000040550
AA Change: H268R

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,572,815 (GRCm39)	L812P	probably damaging	Het
Ankmy1	A	T	1: 92,808,767 (GRCm39)	F714I	probably benign	Het
Armh3	G	T	19: 45,961,323 (GRCm39)	T118K	probably benign	Het
Celf5	A	G	10: 81,306,507 (GRCm39)	I52T	probably damaging	Het
Clstn1	T	C	4: 149,729,809 (GRCm39)	V771A	probably benign	Het
Enpep	G	T	3: 129,075,336 (GRCm39)	L661I	possibly damaging	Het
Faxc	A	G	4: 21,993,486 (GRCm39)	N377D	possibly damaging	Het
Gabrb3	A	G	7: 57,442,264 (GRCm39)	E190G	probably damaging	Het
Gm4787	C	T	12: 81,425,302 (GRCm39)	M285I	probably benign	Het
Gm5900	A	C	7: 104,599,231 (GRCm39)		noncoding transcript	Het
Gm6133	A	G	18: 78,393,308 (GRCm39)	N101D	probably benign	Het
Gtse1	A	G	15: 85,746,531 (GRCm39)	K116E	probably benign	Het
H2-D1	T	G	17: 35,484,785 (GRCm39)	H215Q	possibly damaging	Het
Hdc	A	T	2: 126,443,700 (GRCm39)		probably benign	Het
Hnrnph3	T	C	10: 62,853,056 (GRCm39)	H195R	probably damaging	Het
Ipo8	T	C	6: 148,678,782 (GRCm39)	T939A	probably damaging	Het
Irag1	A	T	7: 110,498,162 (GRCm39)	L411Q	probably damaging	Het
Krt79	G	T	15: 101,848,340 (GRCm39)	P104T	possibly damaging	Het
Lama4	A	T	10: 38,918,670 (GRCm39)	M384L	probably benign	Het
Lamb2	T	G	9: 108,366,559 (GRCm39)	D1590E	probably benign	Het
Ly6i	A	T	15: 74,854,879 (GRCm39)	C10*	probably null	Het
Mamdc4	G	A	2: 25,454,458 (GRCm39)	A1082V	probably benign	Het
Nlrp4a	T	A	7: 26,159,117 (GRCm39)	L799H	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Or2y13	C	T	11: 49,414,571 (GRCm39)	T7I	possibly damaging	Het
Or5al6	A	T	2: 85,977,059 (GRCm39)	N6K	probably benign	Het
Or6b1	T	C	6: 42,815,753 (GRCm39)		probably benign	Het
Peg3	T	C	7: 6,714,927 (GRCm39)	E138G	probably damaging	Het
Phactr1	T	C	13: 42,863,176 (GRCm39)		probably benign	Het
Psmf1	A	G	2: 151,562,733 (GRCm39)		probably benign	Het
Rab32	T	C	10: 10,422,199 (GRCm39)		probably benign	Het
Rfwd3	C	T	8: 111,999,647 (GRCm39)		probably benign	Het
Scart2	A	G	7: 139,828,913 (GRCm39)	T191A	probably benign	Het
Slc25a3	A	G	10: 90,953,977 (GRCm39)	V245A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Thoc1	A	G	18: 9,992,863 (GRCm39)	D545G	probably benign	Het
Tpst1	T	A	5: 130,130,737 (GRCm39)	M69K	possibly damaging	Het
Trank1	T	C	9: 111,196,344 (GRCm39)	V1456A	probably benign	Het
Trappc6a	T	A	7: 19,249,144 (GRCm39)	C124S	possibly damaging	Het
Tsc22d2	T	A	3: 58,367,628 (GRCm39)		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
IGL01903:Otud6b	APN	4	14,818,458 (GRCm39)	missense	probably benign	0.10
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

2015-04-16