Mutagenetix > Incidental Mutation

Incidental Mutation 'R0026:Otud7a'

189172

Institutional Source

Beutler Lab

Gene Symbol

Otud7a

Ensembl Gene

ENSMUSG00000033510

Gene Name

OTU domain containing 7A

Synonyms

Cezanne 2 protein, Otud7

MMRRC Submission

038321-MU

Accession Numbers

Essential gene?

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

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

63094499-63408776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63385549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 338 (F338L)

Ref Sequence

ENSEMBL: ENSMUSP00000057282 (fasta)

Gene Model

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

AlphaFold

Q8R554

Predicted Effect

probably benign
Transcript: ENSMUST00000058476
AA Change: F338L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000057282
Gene: ENSMUSG00000033510
AA Change: F338L

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
AA Change: F344L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000135559
Gene: ENSMUSG00000033510
AA Change: F344L

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

0.1180

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,566 (GRCm39)	I585N	possibly damaging	Het
A830005F24Rik	C	T	13: 48,667,848 (GRCm39)		probably benign	Het
Abca16	C	T	7: 120,077,146 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,666,322 (GRCm39)	L140F	probably benign	Het
Adam19	G	T	11: 46,027,086 (GRCm39)	C573F	probably damaging	Het
Aff3	A	G	1: 38,242,974 (GRCm39)	S948P	probably benign	Het
Anxa3	T	A	5: 96,986,260 (GRCm39)	Y300N	probably benign	Het
BC016579	T	C	16: 45,460,730 (GRCm39)	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,576,494 (GRCm39)	L113P	probably benign	Het
Casq1	T	C	1: 172,046,967 (GRCm39)		probably benign	Het
Cdc16	T	A	8: 13,809,130 (GRCm39)		probably null	Het
Cep135	C	T	5: 76,754,581 (GRCm39)	R353*	probably null	Het
Cma1	A	T	14: 56,179,621 (GRCm39)	C188S	probably damaging	Het
Csf3r	A	G	4: 125,925,677 (GRCm39)	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,504,718 (GRCm39)	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,625,597 (GRCm39)	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,777,363 (GRCm39)	Q203*	probably null	Het
Ephb3	A	G	16: 21,033,667 (GRCm39)	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,574,652 (GRCm39)	T118N	probably damaging	Het
Gm10801	T	C	2: 98,494,254 (GRCm39)		probably benign	Het
Got1l1	C	T	8: 27,690,276 (GRCm39)	V132I	probably benign	Het
H2-M9	T	C	17: 36,952,419 (GRCm39)		probably benign	Het
Ibtk	A	G	9: 85,572,356 (GRCm39)	V1278A	probably benign	Het
Kctd3	T	C	1: 188,708,818 (GRCm39)	T519A	probably damaging	Het
Lgsn	T	A	1: 31,242,524 (GRCm39)	V202D	probably damaging	Het
Madd	A	G	2: 91,006,053 (GRCm39)	F381L	possibly damaging	Het
Map1s	G	A	8: 71,367,282 (GRCm39)	G729D	probably damaging	Het
Mlycd	A	G	8: 120,137,174 (GRCm39)	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,096,952 (GRCm39)	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,131,771 (GRCm39)	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,329,255 (GRCm39)	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,297,334 (GRCm39)	D773G	probably damaging	Het
Nxnl1	A	G	8: 72,019,217 (GRCm39)	S3P	probably damaging	Het
Or12d17	T	A	17: 37,777,694 (GRCm39)	V199D	probably damaging	Het
Or8b54	G	A	9: 38,686,892 (GRCm39)	V114I	probably benign	Het
Pdcl3	T	A	1: 39,030,361 (GRCm39)	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,905,821 (GRCm39)		probably benign	Het
Prpf31	T	A	7: 3,642,667 (GRCm39)	N413K	probably benign	Het
Rapgef5	T	C	12: 117,652,896 (GRCm39)	S307P	probably benign	Het
Relt	C	A	7: 100,499,428 (GRCm39)	E164*	probably null	Het
Rnf185	T	C	11: 3,376,617 (GRCm39)	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,985 (GRCm39)	E21G	probably benign	Het
Scn5a	A	G	9: 119,351,632 (GRCm39)	I783T	probably damaging	Het
Senp1	T	C	15: 97,974,549 (GRCm39)	R88G	probably damaging	Het
Skint5	A	T	4: 113,403,665 (GRCm39)		probably benign	Het
Slc35b1	T	C	11: 95,281,468 (GRCm39)	S294P	probably benign	Het
Slc5a2	T	A	7: 127,869,225 (GRCm39)	I335N	probably damaging	Het
Spata31e2	T	A	1: 26,722,450 (GRCm39)	D910V	probably benign	Het
Sstr1	T	A	12: 58,259,644 (GRCm39)	M89K	probably damaging	Het
Szt2	A	T	4: 118,241,969 (GRCm39)	S1612R	possibly damaging	Het
Taf1c	T	C	8: 120,330,975 (GRCm39)		probably null	Het
Taf1d	T	A	9: 15,219,944 (GRCm39)	S64R	probably damaging	Het
Tmem125	A	G	4: 118,399,270 (GRCm39)	S54P	possibly damaging	Het
Ttf1	T	A	2: 28,961,361 (GRCm39)	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,142,653 (GRCm39)		probably null	Het
Unc5b	A	T	10: 60,610,371 (GRCm39)	I482N	possibly damaging	Het
Unc80	C	A	1: 66,560,743 (GRCm39)	Q824K	probably benign	Het
Utrn	T	C	10: 12,601,940 (GRCm39)		probably benign	Het
Vmn2r61	T	G	7: 41,924,898 (GRCm39)	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,447 (GRCm39)	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,202,357 (GRCm39)	L240*	probably null	Het

Other mutations in Otud7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- AAAGGACAGCATGGACTCCTAGCC -3'
(R):5'- ACATCTGCATTTCGACTGAGCATGG -3'

Sequencing Primer
(F):5'- GTGGGGGATATCACCAACCATC -3'
(R):5'- TTCGACTGAGCATGGCTACG -3'

Posted On

2014-05-13