Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01154:Otud6b'

51002

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: 0.462) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

14809503-14826413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14811732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 304 (Y304N)

Ref Sequence

ENSEMBL: ENSMUSP00000113553 (fasta)

Gene Model

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

AlphaFold

Q8K2H2

Predicted Effect

probably damaging
Transcript: ENSMUST00000117268
AA Change: Y304N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113553
Gene: ENSMUSG00000040550
AA Change: Y304N

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,429,213 (GRCm39)	F767V	probably benign	Het
A2m	C	A	6: 121,650,501 (GRCm39)	S1203*	probably null	Het
Abcc3	T	C	11: 94,250,058 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,896,206 (GRCm39)	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,356,237 (GRCm39)	D51G	probably damaging	Het
Apc2	A	G	10: 80,148,903 (GRCm39)	E1319G	possibly damaging	Het
Arap3	A	T	18: 38,129,787 (GRCm39)	S125T	probably benign	Het
Atp2b1	T	A	10: 98,832,750 (GRCm39)	V417E	probably damaging	Het
Bpifa1	T	A	2: 153,985,920 (GRCm39)	D78E	probably benign	Het
Catsperb	C	A	12: 101,591,940 (GRCm39)	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,457,886 (GRCm39)	T138K	probably damaging	Het
Cenpf	T	A	1: 189,412,530 (GRCm39)	E244D	probably benign	Het
Cep135	A	T	5: 76,754,643 (GRCm39)		probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450 (GRCm39)	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,710,383 (GRCm39)	Q306L	probably benign	Het
Defa22	T	A	8: 21,653,053 (GRCm39)		probably null	Het
Dnah5	A	T	15: 28,458,802 (GRCm39)	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,520,404 (GRCm39)		probably null	Het
Flt1	A	G	5: 147,512,966 (GRCm39)	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074 (GRCm39)	M469V	probably benign	Het
Fxr2	T	C	11: 69,532,259 (GRCm39)		probably benign	Het
Gm10801	A	T	2: 98,494,328 (GRCm39)	Y135F	probably benign	Het
Grm4	A	T	17: 27,653,711 (GRCm39)	C699*	probably null	Het
Hcn4	A	G	9: 58,766,362 (GRCm39)	T677A	unknown	Het
Igkv9-123	G	T	6: 67,931,518 (GRCm39)		probably benign	Het
Irf4	T	A	13: 30,941,404 (GRCm39)	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,723,744 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,489,397 (GRCm39)	V1134A	probably damaging	Het
Limch1	G	T	5: 66,903,301 (GRCm39)	E17*	probably null	Het
Nap1l1	T	A	10: 111,322,536 (GRCm39)	N72K	probably damaging	Het
Or4x11	T	C	2: 89,867,812 (GRCm39)	L183P	probably damaging	Het
Or51t4	T	C	7: 102,598,046 (GRCm39)	S115P	probably damaging	Het
Pdcd10	A	C	3: 75,448,540 (GRCm39)	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,173,660 (GRCm39)	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,483,940 (GRCm39)	A197V	probably benign	Het
Psg25	C	T	7: 18,258,624 (GRCm39)	D351N	probably benign	Het
Sbno1	A	T	5: 124,548,312 (GRCm39)	I87N	probably damaging	Het
Stfa2l1	C	T	16: 35,980,307 (GRCm39)		probably benign	Het
Sugp2	T	A	8: 70,695,349 (GRCm39)	D107E	probably damaging	Het
Syne1	G	T	10: 5,310,848 (GRCm39)	F576L	probably damaging	Het
Syne3	A	G	12: 104,924,328 (GRCm39)	F357S	probably benign	Het
Tenm2	A	G	11: 35,932,371 (GRCm39)	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473 (GRCm39)	K117*	probably null	Het
Tram1	C	T	1: 13,649,673 (GRCm39)		probably null	Het
Trank1	T	A	9: 111,215,468 (GRCm39)	D1799E	probably benign	Het
Ttc14	A	T	3: 33,857,248 (GRCm39)	Y198F	probably benign	Het
Ube3b	A	G	5: 114,544,313 (GRCm39)	N570S	probably null	Het
Ube4b	A	G	4: 149,449,927 (GRCm39)	F412S	probably benign	Het
Vac14	T	C	8: 111,380,239 (GRCm39)		probably benign	Het
Vmn2r65	T	C	7: 84,592,729 (GRCm39)	T493A	probably benign	Het
Zfp408	T	C	2: 91,478,351 (GRCm39)		probably benign	Het
Zfp580	C	T	7: 5,056,267 (GRCm39)	T209I	possibly damaging	Het

Other mutations in Otud6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21