Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03372:Otud6b'

420321

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 #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

14809503-14826413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 14812519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 276 (I276R)

Ref Sequence

ENSEMBL: ENSMUSP00000113553 (fasta)

Gene Model

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

AlphaFold

Q8K2H2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117268
AA Change: I276R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113553
Gene: ENSMUSG00000040550
AA Change: I276R

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 129,911,362 (GRCm39)	A1161V	probably benign	Het
Alpi	A	G	1: 87,028,350 (GRCm39)		probably benign	Het
Asxl1	A	T	2: 153,242,333 (GRCm39)	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,255,329 (GRCm39)	I49V	probably benign	Het
Bod1l	T	C	5: 41,962,578 (GRCm39)		probably benign	Het
Ccl20	A	G	1: 83,095,597 (GRCm39)	M54V	probably benign	Het
Cep72	A	C	13: 74,191,637 (GRCm39)	L200V	possibly damaging	Het
Clic4	T	C	4: 134,945,925 (GRCm39)	D164G	probably damaging	Het
Col5a3	G	A	9: 20,686,624 (GRCm39)	P1334S	unknown	Het
Dab2	T	C	15: 6,459,030 (GRCm39)	L293P	probably damaging	Het
Ddx50	A	T	10: 62,479,109 (GRCm39)	S140T	probably benign	Het
Dnah6	A	T	6: 73,052,833 (GRCm39)	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,952,666 (GRCm39)	E721G	probably damaging	Het
Esyt3	A	T	9: 99,218,109 (GRCm39)		probably benign	Het
Fat4	G	T	3: 38,943,283 (GRCm39)	K725N	possibly damaging	Het
Fezf1	T	C	6: 23,246,909 (GRCm39)	I308V	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,432,674 (GRCm39)		probably benign	Het
Gm10109	A	T	7: 43,871,126 (GRCm39)		probably benign	Het
Gpd2	G	A	2: 57,245,519 (GRCm39)	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,356,077 (GRCm39)		probably benign	Het
Iqca1	A	G	1: 90,072,691 (GRCm39)	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,826,546 (GRCm39)	L161R	probably damaging	Het
Kif19a	G	T	11: 114,670,044 (GRCm39)	V80L	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,670,774 (GRCm39)		probably benign	Het
Ksr2	T	A	5: 117,840,783 (GRCm39)	I575N	possibly damaging	Het
L3mbtl1	A	T	2: 162,813,077 (GRCm39)		probably benign	Het
Larp1b	A	T	3: 40,978,962 (GRCm39)	H6L	possibly damaging	Het
Map4k2	T	A	19: 6,392,279 (GRCm39)		probably benign	Het
Mdh1b	T	C	1: 63,759,154 (GRCm39)	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,631,813 (GRCm39)		probably benign	Het
Mvd	A	G	8: 123,170,113 (GRCm39)		probably benign	Het
Myo7b	C	T	18: 32,131,654 (GRCm39)	S514N	probably damaging	Het
Nav1	A	T	1: 135,378,641 (GRCm39)	I1610K	probably damaging	Het
Nbas	T	C	12: 13,584,473 (GRCm39)	L2095P	probably damaging	Het
Nrros	T	C	16: 31,963,588 (GRCm39)	N115S	probably damaging	Het
Or5p52	T	C	7: 107,502,577 (GRCm39)	Y218H	probably damaging	Het
P2rx6	G	A	16: 17,385,356 (GRCm39)	E150K	probably damaging	Het
Pan2	T	A	10: 128,150,996 (GRCm39)	L771Q	probably benign	Het
Pbrm1	T	A	14: 30,806,976 (GRCm39)	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,453,713 (GRCm39)	R31L	probably benign	Het
Proser3	A	C	7: 30,242,993 (GRCm39)	S195A	probably damaging	Het
Rad50	T	C	11: 53,586,121 (GRCm39)	K292E	probably benign	Het
Rbm27	G	A	18: 42,438,781 (GRCm39)	R394H	probably damaging	Het
Samd9l	A	G	6: 3,375,314 (GRCm39)	I649T	probably damaging	Het
Skint3	G	A	4: 112,113,103 (GRCm39)		probably benign	Het
Slc4a4	T	A	5: 89,304,285 (GRCm39)	L576Q	probably damaging	Het
Snx2	A	G	18: 53,349,463 (GRCm39)	D408G	probably damaging	Het
Taar2	T	C	10: 23,817,069 (GRCm39)	V203A	probably benign	Het
Tdrd6	C	T	17: 43,936,459 (GRCm39)	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,838,444 (GRCm39)	L515R	probably damaging	Het
Unc13a	A	T	8: 72,108,353 (GRCm39)	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,614,496 (GRCm39)	D76G	probably benign	Het
Whrn	T	C	4: 63,336,855 (GRCm39)	D127G	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
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

2016-08-02