Mutagenetix > Incidental Mutation

Incidental Mutation 'R0841:Otud6b'

77152

Institutional Source

Beutler Lab

Gene Symbol

Otud6b

Ensembl Gene

ENSMUSG00000040550

Gene Name

OTU domain containing 6B

Synonyms

2600013N14Rik

MMRRC Submission

039020-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.462) question?

Stock #

R0841 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14809503-14826413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14812532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 272 (T272S)

Ref Sequence

ENSEMBL: ENSMUSP00000113553 (fasta)

Gene Model

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

AlphaFold

Q8K2H2

Predicted Effect

probably benign
Transcript: ENSMUST00000117268
AA Change: T272S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113553
Gene: ENSMUSG00000040550
AA Change: T272S

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

Meta Mutation Damage Score

0.0853

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.1%

Validation Efficiency

94% (45/48)

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
2310002L09Rik	T	A	4: 73,860,986 (GRCm39)	M205L	probably benign	Het
Aass	A	T	6: 23,075,810 (GRCm39)	C776S	probably benign	Het
Abi3bp	T	C	16: 56,488,639 (GRCm39)	S1257P	possibly damaging	Het
Arhgap9	T	A	10: 127,165,508 (GRCm39)	M639K	probably damaging	Het
Ctsj	C	T	13: 61,150,357 (GRCm39)	S214N	probably damaging	Het
Dnali1	T	C	4: 124,959,340 (GRCm39)	S18G	possibly damaging	Het
Eif4g3	C	T	4: 137,893,129 (GRCm39)	T959M	probably damaging	Het
Eml3	G	A	19: 8,915,049 (GRCm39)	M635I	probably benign	Het
Eml6	A	G	11: 29,727,430 (GRCm39)	F1231L	probably benign	Het
Fat4	A	C	3: 39,050,147 (GRCm39)	K4003T	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fgfr2	G	A	7: 129,863,635 (GRCm39)	P4S	probably benign	Het
Fgfr2	T	C	7: 130,373,737 (GRCm39)		probably benign	Het
Glp1r	T	C	17: 31,138,406 (GRCm39)	V160A	probably benign	Het
Gm9726	C	T	12: 93,895,054 (GRCm39)		noncoding transcript	Het
Gm9956	C	A	10: 56,621,424 (GRCm39)	L29M	unknown	Het
Gm9956	T	A	10: 56,621,425 (GRCm39)	L29Q	unknown	Het
Hddc3	T	A	7: 79,995,401 (GRCm39)	S139T	probably benign	Het
Hmcn1	A	T	1: 150,555,358 (GRCm39)		probably null	Het
Inpp5k	T	C	11: 75,524,285 (GRCm39)		probably benign	Het
Kcnq1	A	G	7: 142,661,189 (GRCm39)	K32E	probably benign	Het
Krtdap	A	T	7: 30,488,975 (GRCm39)		probably benign	Het
Ldb2	A	G	5: 44,690,016 (GRCm39)	L201P	probably damaging	Het
Mdn1	T	C	4: 32,752,032 (GRCm39)	V4590A	probably benign	Het
Nip7	C	A	8: 107,784,007 (GRCm39)	H82Q	probably benign	Het
Odad2	G	T	18: 7,268,436 (GRCm39)	P361Q	probably damaging	Het
Or52l1	A	T	7: 104,830,061 (GRCm39)	V168E	probably damaging	Het
Plxna1	A	G	6: 89,309,186 (GRCm39)	V1131A	probably damaging	Het
Prl7a1	T	A	13: 27,826,393 (GRCm39)		probably benign	Het
Sipa1	C	A	19: 5,704,835 (GRCm39)	A587S	probably benign	Het
Slc17a6	A	T	7: 51,275,063 (GRCm39)	I41F	probably benign	Het
Slc43a2	T	A	11: 75,457,815 (GRCm39)	Y363*	probably null	Het
Smg1	A	T	7: 117,742,524 (GRCm39)	L3230Q	possibly damaging	Het
Snapc1	C	T	12: 74,021,780 (GRCm39)		probably benign	Het
Syne2	T	C	12: 76,121,209 (GRCm39)		probably benign	Het
Tap2	C	A	17: 34,434,914 (GRCm39)	D652E	possibly damaging	Het
Trp53rkb	T	C	2: 166,637,430 (GRCm39)	C129R	probably benign	Het
Ugt2a2	T	C	5: 87,622,648 (GRCm39)	T317A	probably benign	Het
Ugt3a1	G	A	15: 9,306,214 (GRCm39)	S121N	probably benign	Het
Unc80	T	C	1: 66,511,247 (GRCm39)	V85A	probably damaging	Het
Vmn2r71	A	G	7: 85,267,749 (GRCm39)	T68A	possibly damaging	Het
Zfp7	G	A	15: 76,775,704 (GRCm39)	C582Y	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGGGGCAACACACAAAACTAGTC -3'
(R):5'- TCAGCTCCTGGTGCTCATACGAAC -3'

Sequencing Primer
(F):5'- ATCACACATGCAGATGCTTTC -3'
(R):5'- TACGAACAGAGCACTCTCTGC -3'

Posted On

2013-10-16