Mutagenetix > Incidental Mutation

Incidental Mutation 'R8095:Otud6b'

630137

Institutional Source

Beutler Lab

Gene Symbol

Otud6b

Ensembl Gene

ENSMUSG00000040550

Gene Name

OTU domain containing 6B

Synonyms

2600013N14Rik

MMRRC Submission

067527-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.455) question?

Stock #

R8095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14809503-14826413 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14825614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 72 (D72G)

Ref Sequence

ENSEMBL: ENSMUSP00000113553 (fasta)

Gene Model

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

AlphaFold

Q8K2H2

Predicted Effect

probably damaging
Transcript: ENSMUST00000117268
AA Change: D72G

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

SMART Domains

Protein: ENSMUSP00000113553
Gene: ENSMUSG00000040550
AA Change: D72G

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

SMART Domains

Protein: ENSMUSP00000120430
Gene: ENSMUSG00000040550
AA Change: D48G

Domain	Start	End	E-Value	Type
coiled coil region	9	82	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.1%
20x: 97.6%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,536,196 (GRCm39)	I490M	possibly damaging	Het
Abcc9	T	C	6: 142,590,048 (GRCm39)	I817V	probably benign	Het
Atp11b	T	C	3: 35,888,565 (GRCm39)	L945P	probably damaging	Het
Coa8	C	A	12: 111,689,218 (GRCm39)	A100D	probably damaging	Het
Crem	T	C	18: 3,295,106 (GRCm39)	T108A	probably benign	Het
Cttnbp2	T	A	6: 18,435,432 (GRCm39)	K142M	probably damaging	Het
Cyp51	C	T	5: 4,136,490 (GRCm39)	E435K	probably benign	Het
Dnah14	G	T	1: 181,633,597 (GRCm39)	E11*	probably null	Het
Dpy19l1	T	C	9: 24,396,160 (GRCm39)		probably null	Het
Dym	A	G	18: 75,247,872 (GRCm39)	T259A	possibly damaging	Het
E030018B13Rik	T	G	7: 63,569,049 (GRCm39)	H32Q	unknown	Het
Ehmt2	T	G	17: 35,126,745 (GRCm39)	H809Q	probably damaging	Het
Fabp6	G	A	11: 43,489,543 (GRCm39)	R33C	probably damaging	Het
Fam98a	C	A	17: 75,845,766 (GRCm39)	D327Y	probably damaging	Het
Foxf1	C	T	8: 121,813,551 (GRCm39)	T357I	probably benign	Het
Foxh1	T	A	15: 76,553,208 (GRCm39)	R169*	probably null	Het
Hydin	T	C	8: 111,295,991 (GRCm39)	F3568S	probably damaging	Het
Il22	T	C	10: 118,041,028 (GRCm39)	S45P	possibly damaging	Het
Isyna1	C	A	8: 71,049,035 (GRCm39)	Y371*	probably null	Het
Lingo3	T	C	10: 80,671,255 (GRCm39)	H225R	probably benign	Het
Lmo7	T	A	14: 102,124,855 (GRCm39)	V560E	possibly damaging	Het
Mab21l2	A	G	3: 86,454,769 (GRCm39)	V77A	probably benign	Het
Mapkbp1	A	G	2: 119,848,131 (GRCm39)	K595R	probably benign	Het
Mfsd2a	A	T	4: 122,845,064 (GRCm39)	C216S	probably damaging	Het
Muc16	A	T	9: 18,496,126 (GRCm39)	Y6688*	probably null	Het
Or12j5	T	C	7: 140,084,192 (GRCm39)	Y60C	probably damaging	Het
Pcdhgb6	A	G	18: 37,875,924 (GRCm39)	I211V	probably benign	Het
Ryr3	A	G	2: 112,498,388 (GRCm39)		probably null	Het
Sardh	T	C	2: 27,132,730 (GRCm39)	Y166C	probably damaging	Het
Scn1a	T	A	2: 66,132,809 (GRCm39)	K171N	possibly damaging	Het
Scyl2	G	T	10: 89,476,965 (GRCm39)	T720K	probably damaging	Het
Slc9a8	T	A	2: 167,310,891 (GRCm39)	V384D	probably damaging	Het
Slco1a8	T	A	6: 141,933,415 (GRCm39)	I457F	probably benign	Het
Smg1	T	C	7: 117,772,285 (GRCm39)	Y1490C	unknown	Het
Snx16	A	T	3: 10,503,244 (GRCm39)	M1K	probably null	Het
Sqle	A	G	15: 59,193,276 (GRCm39)	S218G	probably benign	Het
Strip1	A	G	3: 107,525,455 (GRCm39)	I527T	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnfsf13	A	G	11: 69,575,983 (GRCm39)	C35R	probably damaging	Het
Trf	T	C	9: 103,087,735 (GRCm39)	Y673C	probably damaging	Het
Ttc39b	C	T	4: 83,164,557 (GRCm39)	A252T	probably benign	Het
Tubgcp6	A	T	15: 89,006,977 (GRCm39)	L15H	probably benign	Het
Uspl1	C	T	5: 149,150,992 (GRCm39)	Q731*	probably null	Het
Vmn1r193	T	C	13: 22,403,231 (GRCm39)	R254G	possibly damaging	Het
Vrtn	C	T	12: 84,696,809 (GRCm39)	R520C	probably damaging	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp644	A	C	5: 106,766,280 (GRCm39)	V1234G	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
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
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'- CTCGATTTCAGAATTTTGAGACCG -3'
(R):5'- AAGCCTCATCCGGACCTTTC -3'

Sequencing Primer
(F):5'- GAGACCGTATTCAATAAGCAGTTC -3'
(R):5'- GGACCTTTCTCCGTAGCTGATTG -3'

Posted On

2020-06-30