Mutagenetix > Incidental Mutation

Incidental Mutation 'R1941:Otud7a'

214004

Institutional Source

Beutler Lab

Gene Symbol

Otud7a

Ensembl Gene

ENSMUSG00000033510

Gene Name

OTU domain containing 7A

Synonyms

Cezanne 2 protein, Otud7

MMRRC Submission

039959-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R1941 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63094499-63408776 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 63379574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 273 (R273*)

Ref Sequence

ENSEMBL: ENSMUSP00000135559 (fasta)

Gene Model

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

AlphaFold

Q8R554

Predicted Effect

probably null
Transcript: ENSMUST00000058476
AA Change: R267*

SMART Domains

Protein: ENSMUSP00000057282
Gene: ENSMUSG00000033510
AA Change: R267*

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 null
Transcript: ENSMUST00000177534
AA Change: R273*

SMART Domains

Protein: ENSMUSP00000135559
Gene: ENSMUSG00000033510
AA Change: R273*

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

Coding Region Coverage

1x: 97.3%
3x: 96.6%
10x: 94.8%
20x: 91.1%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Art2b	A	C	7: 101,229,524 (GRCm39)	F125C	probably damaging	Het
Camta1	T	C	4: 151,159,612 (GRCm39)	Y1616C	probably damaging	Het
Cep162	T	G	9: 87,082,048 (GRCm39)	I1286L	probably benign	Het
Chd9	T	A	8: 91,703,697 (GRCm39)		probably null	Het
Col11a2	T	A	17: 34,263,925 (GRCm39)	S247T	probably benign	Het
Col6a4	T	G	9: 105,952,209 (GRCm39)	D563A	probably benign	Het
Crebbp	C	T	16: 3,997,555 (GRCm39)	M176I	probably benign	Het
Cyp4a12b	A	G	4: 115,295,256 (GRCm39)	N454S	probably damaging	Het
Dhx8	T	C	11: 101,643,024 (GRCm39)		probably null	Het
Dock7	G	A	4: 98,872,952 (GRCm39)	L1165F	probably benign	Het
Fam117a	A	T	11: 95,271,624 (GRCm39)	N399Y	probably damaging	Het
Fmn1	A	G	2: 113,195,488 (GRCm39)	K396R	unknown	Het
Foxk1	T	A	5: 142,442,429 (GRCm39)	V693E	possibly damaging	Het
Gml	A	G	15: 74,689,020 (GRCm39)	L10P	probably damaging	Het
Gpx8	A	G	13: 113,182,809 (GRCm39)	L34P	probably damaging	Het
Kank2	A	G	9: 21,684,162 (GRCm39)	L689P	possibly damaging	Het
Mt4	G	A	8: 94,864,874 (GRCm39)	C16Y	possibly damaging	Het
Naa15	C	A	3: 51,363,355 (GRCm39)	Y346*	probably null	Het
Ntrk3	C	T	7: 77,897,010 (GRCm39)	V676I	probably damaging	Het
Oasl2	G	A	5: 115,049,423 (GRCm39)		probably benign	Het
Or1e1c	T	A	11: 73,266,447 (GRCm39)	F294I	probably damaging	Het
Or6c215	T	A	10: 129,638,281 (GRCm39)	M38L	probably benign	Het
Or6c8	T	G	10: 128,915,823 (GRCm39)	N3T	probably damaging	Het
Or7e169	G	A	9: 19,757,246 (GRCm39)	S223F	probably damaging	Het
Or7g20	A	C	9: 18,947,162 (GRCm39)	T248P	possibly damaging	Het
Pcare	T	G	17: 72,059,063 (GRCm39)	T205P	probably damaging	Het
Pde11a	C	T	2: 76,121,594 (GRCm39)	R329Q	probably benign	Het
Pga5	G	T	19: 10,646,820 (GRCm39)		probably null	Het
Ppp1r1a	A	G	15: 103,441,528 (GRCm39)		probably null	Het
Pus10	A	G	11: 23,661,198 (GRCm39)	Q262R	possibly damaging	Het
Rbm17	T	C	2: 11,593,885 (GRCm39)	K241R	possibly damaging	Het
Rp1l1	T	G	14: 64,259,701 (GRCm39)	D114E	probably damaging	Het
Safb	T	A	17: 56,905,992 (GRCm39)		probably benign	Het
Sgpl1	T	C	10: 60,939,086 (GRCm39)	Y371C	probably damaging	Het
Siglec1	C	A	2: 130,920,051 (GRCm39)	A827S	possibly damaging	Het
Smg5	T	A	3: 88,252,687 (GRCm39)	S158T	possibly damaging	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spaca6	A	G	17: 18,058,664 (GRCm39)	I71V	probably benign	Het
Spaca6	A	G	17: 18,058,692 (GRCm39)	E80G	probably damaging	Het
Steap1	C	A	5: 5,790,541 (GRCm39)	A136S	probably damaging	Het
Supv3l1	G	C	10: 62,285,391 (GRCm39)	P25R	probably benign	Het
Tex21	T	C	12: 76,268,458 (GRCm39)	K108R	possibly damaging	Het
Tnc	A	G	4: 63,933,201 (GRCm39)	Y688H	probably damaging	Het
Tnr	G	A	1: 159,677,704 (GRCm39)	E30K	possibly damaging	Het
Tnrc18	G	T	5: 142,800,905 (GRCm39)	P18T	probably damaging	Het
Ttk	T	G	9: 83,735,179 (GRCm39)	S422A	probably benign	Het
Ubap1	A	G	4: 41,378,968 (GRCm39)	K61E	probably damaging	Het
Ubr2	C	T	17: 47,284,952 (GRCm39)	R522H	probably damaging	Het
Vwf	A	T	6: 125,616,242 (GRCm39)	E1185D	possibly damaging	Het
Wwp2	A	G	8: 108,244,547 (GRCm39)	T194A	probably benign	Het
Zfp36	A	G	7: 28,077,071 (GRCm39)	V279A	probably damaging	Het
Zfp870	C	A	17: 33,101,778 (GRCm39)	R517L	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
R0241:Otud7a	UTSW	7	63,346,992 (GRCm39)	splice site	probably benign
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
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'- GACTCTCCAGCTCTGAAATCAG -3'
(R):5'- TTCTGCTACCTGGCTAGCATG -3'

Sequencing Primer
(F):5'- ATACAGGGGACACTTGCAGATATGTC -3'
(R):5'- TAGCATGCAGGGTCACTTC -3'

Posted On

2014-07-14