Mutagenetix > Incidental Mutation

Incidental Mutation 'R0611:Otud7a'

54719

Institutional Source

Beutler Lab

Gene Symbol

Otud7a

Ensembl Gene

ENSMUSG00000033510

Gene Name

OTU domain containing 7A

Synonyms

Cezanne 2 protein, Otud7

MMRRC Submission

038800-MU

Accession Numbers

Essential gene?

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

Stock #

R0611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63094499-63408776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63385638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 367 (D367E)

Ref Sequence

ENSEMBL: ENSMUSP00000057282 (fasta)

Gene Model

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

AlphaFold

Q8R554

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058476
AA Change: D367E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000057282
Gene: ENSMUSG00000033510
AA Change: D367E

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

possibly damaging
Transcript: ENSMUST00000177534
AA Change: D373E

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135559
Gene: ENSMUSG00000033510
AA Change: D373E

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: 99.4%
3x: 98.9%
10x: 97.5%
20x: 94.9%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,851,479 (GRCm39)	M819K	possibly damaging	Het
Adamtsl3	T	G	7: 82,178,120 (GRCm39)	C528G	probably damaging	Het
Akap9	A	G	5: 4,004,870 (GRCm39)	K148E	probably benign	Het
Akr1b1	A	T	6: 34,286,577 (GRCm39)	D225E	probably benign	Het
Alms1	C	A	6: 85,655,653 (GRCm39)	Q2931K	possibly damaging	Het
Ano3	T	C	2: 110,715,346 (GRCm39)	K31E	possibly damaging	Het
Cdc37	A	G	9: 21,053,537 (GRCm39)	I242T	probably damaging	Het
Celsr1	T	A	15: 85,816,524 (GRCm39)	K1806N	possibly damaging	Het
Clpb	T	A	7: 101,436,956 (GRCm39)	I707N	possibly damaging	Het
Cntnap2	A	T	6: 47,072,483 (GRCm39)	Y1017F	possibly damaging	Het
Creb3l2	A	T	6: 37,311,416 (GRCm39)	S458T	probably benign	Het
Ctnnd2	C	A	15: 31,009,230 (GRCm39)	T1109K	possibly damaging	Het
Dcaf10	T	A	4: 45,373,011 (GRCm39)	L425Q	probably damaging	Het
Dlec1	A	G	9: 118,941,167 (GRCm39)	E239G	probably benign	Het
Dnah2	T	C	11: 69,390,020 (GRCm39)	K742E	probably damaging	Het
Dsp	A	T	13: 38,371,717 (GRCm39)	R889S	probably damaging	Het
Dync1h1	T	A	12: 110,599,222 (GRCm39)	M1859K	probably damaging	Het
Efcab7	T	A	4: 99,758,886 (GRCm39)	N361K	probably damaging	Het
Eps8l2	T	C	7: 140,935,646 (GRCm39)	V139A	probably damaging	Het
Fads3	T	G	19: 10,019,200 (GRCm39)	H35Q	probably damaging	Het
Fam163b	C	A	2: 27,003,583 (GRCm39)	V24F	probably damaging	Het
Gm14496	A	T	2: 181,636,904 (GRCm39)	T121S	probably benign	Het
Gm4799	C	T	10: 82,790,563 (GRCm39)		noncoding transcript	Het
Gm7168	A	T	17: 14,169,797 (GRCm39)	D388V	probably benign	Het
Gmeb1	A	T	4: 131,953,386 (GRCm39)	L460*	probably null	Het
Gpc6	T	G	14: 118,212,430 (GRCm39)	F534V	probably null	Het
Hectd3	A	G	4: 116,853,241 (GRCm39)	D156G	possibly damaging	Het
Itga6	T	C	2: 71,650,404 (GRCm39)	I150T	possibly damaging	Het
Kansl1	A	G	11: 104,229,012 (GRCm39)	M863T	probably benign	Het
Kcnb2	A	T	1: 15,780,664 (GRCm39)	Y512F	probably benign	Het
Klhdc2	A	T	12: 69,347,053 (GRCm39)	M73L	probably benign	Het
Ktn1	A	G	14: 47,932,073 (GRCm39)	T667A	probably benign	Het
Lgsn	A	C	1: 31,242,736 (GRCm39)	I273L	probably benign	Het
Lilra5	A	G	7: 4,245,232 (GRCm39)	D292G	probably benign	Het
Mrps27	C	T	13: 99,541,582 (GRCm39)	R229C	probably damaging	Het
Muc5b	T	G	7: 141,416,173 (GRCm39)	S3040A	probably benign	Het
Nat14	T	C	7: 4,926,275 (GRCm39)	S7P	probably damaging	Het
Nfia	A	G	4: 97,671,694 (GRCm39)	I135V	possibly damaging	Het
Nkd1	G	A	8: 89,248,944 (GRCm39)	A30T	probably damaging	Het
Nup205	A	G	6: 35,202,903 (GRCm39)	D1370G	probably null	Het
Or1j15	C	G	2: 36,459,568 (GRCm39)		probably null	Het
Or4k15c	G	A	14: 50,321,310 (GRCm39)	T276I	probably damaging	Het
Or51k2	T	C	7: 103,596,400 (GRCm39)	L209P	probably damaging	Het
Or5p79	T	A	7: 108,221,494 (GRCm39)	N158K	possibly damaging	Het
Or8s10	T	C	15: 98,336,168 (GRCm39)	S273P	possibly damaging	Het
Orc1	C	T	4: 108,459,229 (GRCm39)	A466V	probably benign	Het
Pcdhb4	A	G	18: 37,441,263 (GRCm39)	Y191C	probably damaging	Het
Pclo	T	C	5: 14,762,828 (GRCm39)	V3767A	unknown	Het
Pclo	T	C	5: 14,728,789 (GRCm39)		probably benign	Het
Prmt1	A	T	7: 44,628,225 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,842,483 (GRCm39)	F62S	probably damaging	Het
Rangrf	T	C	11: 68,863,518 (GRCm39)	S163G	probably benign	Het
Rgs12	C	A	5: 35,176,804 (GRCm39)	A65E	probably damaging	Het
Rrbp1	T	C	2: 143,830,436 (GRCm39)	N577S	probably damaging	Het
Septin11	A	G	5: 93,315,393 (GRCm39)	H374R	probably damaging	Het
Serpina5	T	G	12: 104,070,046 (GRCm39)	N314K	probably benign	Het
Sgce	T	C	6: 4,689,621 (GRCm39)	D395G	probably damaging	Het
Slc26a9	A	T	1: 131,690,499 (GRCm39)	N501I	probably damaging	Het
Slc9c1	A	G	16: 45,401,965 (GRCm39)	D784G	possibly damaging	Het
Snapc2	A	G	8: 4,305,676 (GRCm39)	D207G	probably benign	Het
Stard9	G	T	2: 120,529,738 (GRCm39)	M1998I	probably benign	Het
Stk38	A	C	17: 29,194,907 (GRCm39)	F280V	possibly damaging	Het
Tas2r126	A	G	6: 42,412,025 (GRCm39)	K186R	probably damaging	Het
Tdp1	A	C	12: 99,875,970 (GRCm39)	D307A	probably benign	Het
Tead2	A	G	7: 44,866,674 (GRCm39)	D11G	probably damaging	Het
Tmco4	C	A	4: 138,747,383 (GRCm39)	L211I	probably damaging	Het
Tmem183a	A	G	1: 134,280,115 (GRCm39)	F255S	probably damaging	Het
Tmem87a	C	T	2: 120,205,929 (GRCm39)	G349S	possibly damaging	Het
Tpte	G	A	8: 22,826,549 (GRCm39)	E377K	possibly damaging	Het
Trim32	T	C	4: 65,531,893 (GRCm39)	F150S	possibly damaging	Het
Trpc7	T	A	13: 57,035,636 (GRCm39)	K99M	probably damaging	Het
Ttc22	A	G	4: 106,491,381 (GRCm39)	K195E	probably damaging	Het
Txn2	G	A	15: 77,811,917 (GRCm39)	P7S	probably damaging	Het
Ubxn2a	G	A	12: 4,930,700 (GRCm39)	T220I	probably damaging	Het
Ufd1	A	G	16: 18,633,626 (GRCm39)	N17S	possibly damaging	Het
Unc13a	A	G	8: 72,102,509 (GRCm39)	S958P	probably damaging	Het
Vmn1r202	T	A	13: 22,685,824 (GRCm39)	M198L	probably damaging	Het
Vmn2r84	G	A	10: 130,221,991 (GRCm39)	A743V	probably damaging	Het
Washc5	A	G	15: 59,213,007 (GRCm39)	F891S	probably damaging	Het
Zfp708	T	C	13: 67,218,375 (GRCm39)	T495A	probably benign	Het
Zfp81	A	G	17: 33,553,593 (GRCm39)	I407T	probably benign	Het
Zswim5	T	C	4: 116,843,874 (GRCm39)		probably null	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
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'- GGACCACTGCCTCTAACACATCTG -3'

Sequencing Primer
(F):5'- ctcccctgtcccctctc -3'
(R):5'- ATTTCGACTGAGCATGGCTAC -3'

Posted On

2013-07-11