Mutagenetix > Incidental Mutation

Incidental Mutation 'R0241:Otud7a'

59486

Institutional Source

Beutler Lab

Gene Symbol

Otud7a

Ensembl Gene

ENSMUSG00000033510

Gene Name

OTU domain containing 7A

Synonyms

Cezanne 2 protein, Otud7

MMRRC Submission

038479-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R0241 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

63094499-63408776 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 63346992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058476] [ENSMUST00000177534]

AlphaFold

Q8R554

Predicted Effect

probably benign
Transcript: ENSMUST00000058476

SMART Domains

Protein: ENSMUSP00000057282
Gene: ENSMUSG00000033510

Domain	Start	End	E-Value	Type
PDB:2L2D\|A	11	82	4e-43	PDB
Pfam:OTU	207	371	1.5e-26	PFAM
low complexity region	478	510	N/A	INTRINSIC
low complexity region	527	547	N/A	INTRINSIC
low complexity region	559	581	N/A	INTRINSIC
low complexity region	583	595	N/A	INTRINSIC
low complexity region	679	691	N/A	INTRINSIC
low complexity region	730	777	N/A	INTRINSIC
low complexity region	834	844	N/A	INTRINSIC
low complexity region	865	872	N/A	INTRINSIC
Pfam:zf-A20	888	912	4.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177534

SMART Domains

Protein: ENSMUSP00000135559
Gene: ENSMUSG00000033510

Domain	Start	End	E-Value	Type
Pfam:UBA_4	28	66	2e-7	PFAM
Pfam:OTU	206	377	5.7e-32	PFAM
low complexity region	484	516	N/A	INTRINSIC
low complexity region	533	553	N/A	INTRINSIC
low complexity region	565	587	N/A	INTRINSIC
low complexity region	589	601	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight, abnormal spike wave discharge, decreased dendritic spine density, decreased prepulse inhibition, impaired coordination, decreased grip strength, decreased startle reflex, impaired ultrasonic vocalization and delayed tooth eruption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	T	A	6: 39,560,752 (GRCm39)	V380E	probably benign	Het
Anapc1	A	T	2: 128,470,549 (GRCm39)	M1527K	possibly damaging	Het
Arfgef3	T	A	10: 18,474,962 (GRCm39)	I1575F	probably damaging	Het
Atp4a	G	T	7: 30,416,560 (GRCm39)	G446C	probably benign	Het
Bicra	A	T	7: 15,709,070 (GRCm39)	M1188K	probably damaging	Het
Brd7	G	A	8: 89,072,478 (GRCm39)	R331W	probably benign	Het
Cactin	A	G	10: 81,158,486 (GRCm39)	T151A	probably benign	Het
Cadps	G	A	14: 12,376,675 (GRCm38)	T1274M	probably damaging	Het
Catsper3	T	C	13: 55,952,667 (GRCm39)	M175T	probably damaging	Het
Chd5	A	G	4: 152,450,589 (GRCm39)	D605G	probably damaging	Het
Chst12	G	A	5: 140,510,054 (GRCm39)	R227H	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Cimap1d	C	T	10: 79,480,564 (GRCm39)		probably null	Het
Cobl	A	T	11: 12,204,524 (GRCm39)	V644E	probably benign	Het
Ddx31	A	G	2: 28,738,303 (GRCm39)	T155A	probably damaging	Het
Dnah3	T	C	7: 119,521,953 (GRCm39)	Q4069R	probably damaging	Het
Dnah8	T	C	17: 30,984,653 (GRCm39)	I3117T	probably damaging	Het
Doc2b	A	G	11: 75,663,387 (GRCm39)	V355A	probably damaging	Het
Dock10	A	T	1: 80,556,340 (GRCm39)	S578T	probably benign	Het
Duox1	T	C	2: 122,163,878 (GRCm39)		probably benign	Het
Epb41l5	T	C	1: 119,495,509 (GRCm39)		probably null	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fcer2a	A	G	8: 3,738,796 (GRCm39)		probably null	Het
Fmnl1	G	A	11: 103,072,996 (GRCm39)		probably null	Het
Fry	A	T	5: 150,183,811 (GRCm39)		probably benign	Het
Git2	T	C	5: 114,871,290 (GRCm39)	E208G	probably damaging	Het
Hs6st3	T	C	14: 119,376,232 (GRCm39)	F136L	probably benign	Het
Hydin	G	A	8: 111,124,655 (GRCm39)	V555I	probably benign	Het
Kcns1	A	T	2: 164,010,300 (GRCm39)	I153N	probably damaging	Het
Kmt2b	A	G	7: 30,276,494 (GRCm39)	L1726S	probably damaging	Het
Loxl3	A	G	6: 83,027,114 (GRCm39)	D615G	probably damaging	Het
Negr1	T	A	3: 156,914,036 (GRCm39)		probably benign	Het
Nfasc	C	A	1: 132,564,731 (GRCm39)	A70S	probably benign	Het
Or4d1	T	A	11: 87,804,860 (GRCm39)	N291Y	probably damaging	Het
Or4p21	A	T	2: 88,276,889 (GRCm39)	M131K	possibly damaging	Het
Or52n4	A	G	7: 104,294,450 (GRCm39)	M41T	probably benign	Het
Or5g29	A	G	2: 85,421,154 (GRCm39)	K90R	probably benign	Het
Pacs2	T	C	12: 113,032,890 (GRCm39)		probably benign	Het
Pde7b	A	G	10: 20,311,962 (GRCm39)	C239R	probably damaging	Het
Pdzd2	A	T	15: 12,368,027 (GRCm39)	L2654Q	probably damaging	Het
Pgap1	T	C	1: 54,575,110 (GRCm39)		probably null	Het
Proz	T	A	8: 13,115,356 (GRCm39)	M124K	probably benign	Het
Raet1d	A	G	10: 22,247,328 (GRCm39)	T135A	probably benign	Het
Rapgef1	A	G	2: 29,592,682 (GRCm39)	N558S	possibly damaging	Het
Rpl7	C	G	1: 16,173,446 (GRCm39)	G101A	possibly damaging	Het
Sec14l1	G	A	11: 117,037,924 (GRCm39)		probably benign	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Simc1	G	T	13: 54,698,338 (GRCm39)	L1319F	probably damaging	Het
Sspo	A	G	6: 48,438,429 (GRCm39)	E1499G	possibly damaging	Het
Tango6	C	T	8: 107,473,993 (GRCm39)		probably benign	Het
Tas2r118	T	C	6: 23,969,338 (GRCm39)	Y241C	probably damaging	Het
Tbck	A	G	3: 132,430,636 (GRCm39)	E344G	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Thop1	T	A	10: 80,916,079 (GRCm39)		probably benign	Het
Tmbim7	A	T	5: 3,716,866 (GRCm39)	Y66F	probably benign	Het
Tmc8	C	T	11: 117,677,207 (GRCm39)		probably benign	Het
Tnfrsf19	A	G	14: 61,211,041 (GRCm39)	S216P	possibly damaging	Het
Trappc2l	A	G	8: 123,341,132 (GRCm39)		probably benign	Het
Trim67	A	G	8: 125,549,929 (GRCm39)	R520G	probably damaging	Het
Ubp1	T	A	9: 113,795,655 (GRCm39)		probably null	Het
Vil1	T	C	1: 74,465,853 (GRCm39)	L548P	probably damaging	Het
Wdr3	A	G	3: 100,052,973 (GRCm39)	V593A	probably damaging	Het
Wdr5	A	G	2: 27,423,025 (GRCm39)	Y243C	probably damaging	Het
Zan	T	C	5: 137,420,084 (GRCm39)	T2858A	unknown	Het
Zbtb37	A	T	1: 160,847,939 (GRCm39)	V356E	probably benign	Het
Zfp36	C	T	7: 28,077,759 (GRCm39)	V50I	probably damaging	Het
Zfp563	A	T	17: 33,323,659 (GRCm39)	S85C	possibly damaging	Het

Other mutations in Otud7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0026:Otud7a	UTSW	7	63,385,549 (GRCm39)	missense	probably benign	0.32
R0576:Otud7a	UTSW	7	63,335,266 (GRCm39)	missense	possibly damaging	0.93
R0594:Otud7a	UTSW	7	63,377,220 (GRCm39)	nonsense	probably null
R0611:Otud7a	UTSW	7	63,385,638 (GRCm39)	missense	possibly damaging	0.84
R1473:Otud7a	UTSW	7	63,404,377 (GRCm39)	splice site	probably benign
R1519:Otud7a	UTSW	7	63,408,391 (GRCm39)	missense	probably damaging	1.00
R1694:Otud7a	UTSW	7	63,383,458 (GRCm39)	missense	probably damaging	1.00
R1941:Otud7a	UTSW	7	63,379,574 (GRCm39)	nonsense	probably null
R1952:Otud7a	UTSW	7	63,300,624 (GRCm39)	missense	probably damaging	0.96
R2199:Otud7a	UTSW	7	63,407,404 (GRCm39)	missense	possibly damaging	0.53
R2404:Otud7a	UTSW	7	63,346,899 (GRCm39)	missense	probably benign	0.20
R4238:Otud7a	UTSW	7	63,300,702 (GRCm39)	missense	probably damaging	1.00
R4239:Otud7a	UTSW	7	63,300,702 (GRCm39)	missense	probably damaging	1.00
R4294:Otud7a	UTSW	7	63,346,939 (GRCm39)	missense	probably damaging	0.99
R4512:Otud7a	UTSW	7	63,379,625 (GRCm39)	missense	probably benign	0.32
R4748:Otud7a	UTSW	7	63,385,663 (GRCm39)	missense	possibly damaging	0.73
R4815:Otud7a	UTSW	7	63,379,658 (GRCm39)	critical splice donor site	probably null
R4942:Otud7a	UTSW	7	63,407,171 (GRCm39)	missense	probably damaging	0.99
R5249:Otud7a	UTSW	7	63,407,181 (GRCm39)	missense	possibly damaging	0.53
R5332:Otud7a	UTSW	7	63,385,574 (GRCm39)	missense	probably damaging	0.98
R5438:Otud7a	UTSW	7	63,407,207 (GRCm39)	missense	unknown
R6185:Otud7a	UTSW	7	63,408,133 (GRCm39)	missense	probably damaging	0.99
R7099:Otud7a	UTSW	7	63,407,203 (GRCm39)	missense	possibly damaging	0.72
R7893:Otud7a	UTSW	7	63,408,300 (GRCm39)	missense	probably damaging	1.00
R8154:Otud7a	UTSW	7	63,407,612 (GRCm39)	missense	probably benign	0.18
R8930:Otud7a	UTSW	7	63,407,239 (GRCm39)	missense	possibly damaging	0.85
R8932:Otud7a	UTSW	7	63,407,239 (GRCm39)	missense	possibly damaging	0.85
R9225:Otud7a	UTSW	7	63,407,469 (GRCm39)	missense	possibly damaging	0.53
R9792:Otud7a	UTSW	7	63,378,845 (GRCm39)	missense	probably damaging	0.99
R9793:Otud7a	UTSW	7	63,378,845 (GRCm39)	missense	probably damaging	0.99
Z1176:Otud7a	UTSW	7	63,408,448 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTCTCATCAGCAGAGAAGCGCC -3'
(R):5'- GCTCCGTGACAGAGTACAATGGTC -3'

Sequencing Primer
(F):5'- GATCTCCCATGCCAGCTCAG -3'
(R):5'- CGTGACAGAGTACAATGGTCTTTAG -3'

Posted On

2013-07-11