Mutagenetix > Incidental Mutation

Incidental Mutation 'R6327:Otud6b'

510466

Institutional Source

Beutler Lab

Gene Symbol

Otud6b

Ensembl Gene

ENSMUSG00000040550

Gene Name

OTU domain containing 6B

Synonyms

2600013N14Rik

MMRRC Submission

044481-MU

Accession Numbers

Essential gene?

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

Stock #

R6327 (G1)

Quality Score

174.009

Status

Not validated

Chromosome

Chromosomal Location

14809503-14826413 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 14826496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8K2H2

Predicted Effect

probably benign
Transcript: ENSMUST00000117268

SMART Domains

Protein: ENSMUSP00000113553
Gene: ENSMUSG00000040550

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,655 (GRCm39)		probably null	Het
Birc6	C	A	17: 74,969,774 (GRCm39)	H383Q	probably damaging	Het
C2	C	A	17: 35,083,079 (GRCm39)	A431S	probably benign	Het
C3ar1	C	T	6: 122,827,105 (GRCm39)	V371M	probably damaging	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Ckap2l	A	G	2: 129,127,414 (GRCm39)	S255P	probably damaging	Het
Clca3a1	T	A	3: 144,436,558 (GRCm39)	I842F	probably benign	Het
Cmc2	G	T	8: 117,620,896 (GRCm39)	H28Q	probably damaging	Het
Col11a2	C	T	17: 34,262,291 (GRCm39)	P176L	probably benign	Het
Csmd3	T	C	15: 47,744,783 (GRCm39)	D1404G	probably damaging	Het
Dld	G	A	12: 31,382,190 (GRCm39)	P506S	probably benign	Het
Dsg3	T	C	18: 20,672,927 (GRCm39)	M866T	probably benign	Het
Ehd1	T	C	19: 6,348,375 (GRCm39)	I451T	possibly damaging	Het
Fosb	T	C	7: 19,041,152 (GRCm39)	T114A	probably benign	Het
Foxd4	T	A	19: 24,878,198 (GRCm39)	M1L	possibly damaging	Het
Fstl5	T	A	3: 76,615,108 (GRCm39)	I723N	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Hdlbp	A	G	1: 93,357,186 (GRCm39)	S299P	possibly damaging	Het
Mast4	G	A	13: 102,897,890 (GRCm39)	R650C	probably damaging	Het
Micu3	A	G	8: 40,819,238 (GRCm39)	T306A	probably benign	Het
Mylk2	A	G	2: 152,755,613 (GRCm39)	Q259R	possibly damaging	Het
Nfkbiz	T	C	16: 55,642,325 (GRCm39)	N31S	probably damaging	Het
Nisch	A	T	14: 30,893,444 (GRCm39)		probably benign	Het
Nudt17	T	C	3: 96,615,080 (GRCm39)		probably benign	Het
Oprm1	A	C	10: 6,780,063 (GRCm39)	I242L	probably damaging	Het
Or13a26	T	C	7: 140,284,616 (GRCm39)	W151R	probably damaging	Het
Or14c39	T	C	7: 86,343,760 (GRCm39)	V32A	probably benign	Het
Or2y1d	A	C	11: 49,321,828 (GRCm39)	H175P	probably damaging	Het
Pamr1	A	T	2: 102,472,519 (GRCm39)	D606V	probably damaging	Het
Pcf11	T	C	7: 92,308,817 (GRCm39)		probably benign	Het
Pom121l2	T	C	13: 22,166,502 (GRCm39)	S258P	probably damaging	Het
Rcsd1	T	A	1: 165,483,403 (GRCm39)	D196V	possibly damaging	Het
Sbf2	C	T	7: 110,040,759 (GRCm39)	R356Q	probably damaging	Het
Serpinf1	A	G	11: 75,304,731 (GRCm39)		probably null	Het
Slc22a30	T	G	19: 8,313,086 (GRCm39)		probably benign	Het
Strn4	G	T	7: 16,550,384 (GRCm39)	S36I	probably benign	Het
Taar6	A	G	10: 23,861,177 (GRCm39)	L123P	probably damaging	Het
Thbs1	G	T	2: 117,943,137 (GRCm39)	R5L	unknown	Het
Timp3	T	C	10: 86,181,650 (GRCm39)	Y174H	probably benign	Het
Trpm2	C	T	10: 77,768,061 (GRCm39)	V813M	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vcan	A	T	13: 89,852,951 (GRCm39)	S670T	probably damaging	Het
Vmn1r65	A	T	7: 6,011,651 (GRCm39)	N194K	possibly 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
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
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

Posted On

2018-04-02