Mutagenetix > Incidental Mutation

Incidental Mutation 'R1519:Otud7a'

167279

Institutional Source

Beutler Lab

Gene Symbol

Otud7a

Ensembl Gene

ENSMUSG00000033510

Gene Name

OTU domain containing 7A

Synonyms

Cezanne 2 protein, Otud7

Accession Numbers

Essential gene?

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

Stock #

R1519 (G1)

Quality Score

110

Status

Not validated

Chromosome

Chromosomal Location

63094499-63408776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63408391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 898 (Y898C)

Ref Sequence

ENSEMBL: ENSMUSP00000057282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058476] [ENSMUST00000177511] [ENSMUST00000177534]

AlphaFold

Q8R554

Predicted Effect

probably damaging
Transcript: ENSMUST00000058476
AA Change: Y898C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057282
Gene: ENSMUSG00000033510
AA Change: Y898C

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: ENSMUST00000177511

SMART Domains

Protein: ENSMUSP00000134821
Gene: ENSMUSG00000033510

Domain	Start	End	E-Value	Type
transmembrane domain	36	55	N/A	INTRINSIC
low complexity region	56	89	N/A	INTRINSIC

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,439,390 (GRCm39)	P187R	probably damaging	Het
Abhd5	T	C	9: 122,208,079 (GRCm39)		probably null	Het
Acadvl	A	G	11: 69,905,617 (GRCm39)		probably null	Het
Actn1	T	C	12: 80,251,852 (GRCm39)	E75G	probably damaging	Het
Adam4	A	T	12: 81,467,651 (GRCm39)	N323K	possibly damaging	Het
Anks6	G	A	4: 47,027,152 (GRCm39)	R689W	probably damaging	Het
Anxa2	T	C	9: 69,392,523 (GRCm39)	I124T	probably damaging	Het
Aph1c	T	C	9: 66,740,547 (GRCm39)	T10A	probably benign	Het
Arhgap40	T	A	2: 158,388,721 (GRCm39)	W552R	probably benign	Het
Baz2b	C	T	2: 59,778,598 (GRCm39)	R754H	possibly damaging	Het
Blmh	A	G	11: 76,857,607 (GRCm39)	Y147C	probably damaging	Het
C1galt1	C	T	6: 7,866,402 (GRCm39)	L83F	probably damaging	Het
Ccdc168	A	G	1: 44,096,130 (GRCm39)	V1656A	probably benign	Het
Cdh23	A	T	10: 60,215,122 (GRCm39)	Y1403N	possibly damaging	Het
Cic	A	T	7: 24,993,235 (GRCm39)		probably null	Het
Coro1b	T	A	19: 4,200,583 (GRCm39)	V200D	possibly damaging	Het
Csl	T	A	10: 99,593,817 (GRCm39)	E416V	probably damaging	Het
Cyp3a25	A	G	5: 145,938,257 (GRCm39)		probably null	Het
Dennd2d	T	A	3: 106,399,875 (GRCm39)	F266Y	probably damaging	Het
Dnah10	A	G	5: 124,838,016 (GRCm39)	E1072G	probably damaging	Het
Dnah6	T	A	6: 73,026,031 (GRCm39)	K3435N	probably damaging	Het
Dnah9	G	A	11: 65,772,587 (GRCm39)	A3715V	probably damaging	Het
Fam186a	G	A	15: 99,845,536 (GRCm39)	S236L	unknown	Het
Frs3	A	G	17: 48,013,903 (GRCm39)	T199A	probably benign	Het
Fsd1	A	G	17: 56,300,870 (GRCm39)	N243S	probably benign	Het
Gabra5	A	C	7: 57,058,641 (GRCm39)	L369R	probably benign	Het
Gask1b	A	G	3: 79,848,771 (GRCm39)	N506D	possibly damaging	Het
Gins4	A	G	8: 23,724,792 (GRCm39)	V54A	probably benign	Het
Gli1	T	C	10: 127,170,138 (GRCm39)	E339G	possibly damaging	Het
Gm12185	A	G	11: 48,798,594 (GRCm39)	V633A	probably damaging	Het
Gpr83	T	A	9: 14,779,493 (GRCm39)	C182S	probably null	Het
Gspt1	A	G	16: 11,038,719 (GRCm39)	V627A	probably damaging	Het
Heatr1	T	C	13: 12,427,040 (GRCm39)	C722R	probably benign	Het
Jak1	C	T	4: 101,020,119 (GRCm39)	R680Q	probably damaging	Het
Kif2c	A	G	4: 117,027,137 (GRCm39)	V287A	probably damaging	Het
Kmo	C	T	1: 175,479,184 (GRCm39)	P240L	possibly damaging	Het
Kmo	A	G	1: 175,484,368 (GRCm39)	E366G	probably damaging	Het
Lepr	A	T	4: 101,646,541 (GRCm39)	N824I	probably damaging	Het
Lyrm7	T	A	11: 54,739,425 (GRCm39)	H75L	possibly damaging	Het
Map4k1	A	T	7: 28,690,461 (GRCm39)	Q351L	probably benign	Het
Matcap2	T	G	9: 22,341,671 (GRCm39)	L114R	probably benign	Het
Mgam	T	C	6: 40,638,617 (GRCm39)	I450T	probably benign	Het
Nbeal2	A	G	9: 110,465,373 (GRCm39)	L955P	probably damaging	Het
Nlrp9c	T	C	7: 26,077,526 (GRCm39)	K752R	possibly damaging	Het
Nsmaf	A	T	4: 6,438,062 (GRCm39)	I70K	probably benign	Het
Or14a257	A	G	7: 86,138,333 (GRCm39)	M142T	probably damaging	Het
Or5ac19	C	T	16: 59,089,307 (GRCm39)	C241Y	probably damaging	Het
Pcdhb18	A	C	18: 37,623,945 (GRCm39)	D425A	probably damaging	Het
Prdm1	A	T	10: 44,315,982 (GRCm39)	L733*	probably null	Het
Prdm2	A	T	4: 142,862,153 (GRCm39)	I379N	probably damaging	Het
Ptprg	A	T	14: 12,220,596 (GRCm38)	Y436F	probably damaging	Het
Riok3	A	G	18: 12,270,363 (GRCm39)	D167G	probably damaging	Het
Rnf215	G	T	11: 4,085,451 (GRCm39)	R60L	probably damaging	Het
Scart1	G	A	7: 139,808,069 (GRCm39)	V747I	probably benign	Het
Sdk1	A	T	5: 141,985,705 (GRCm39)	H779L	probably benign	Het
Serpine2	A	G	1: 79,772,748 (GRCm39)	F390L	probably damaging	Het
Sh3d21	T	A	4: 126,045,519 (GRCm39)	K387*	probably null	Het
Slc13a2	T	C	11: 78,288,572 (GRCm39)	Y568C	possibly damaging	Het
Slc27a5	T	C	7: 12,722,386 (GRCm39)		probably null	Het
Slc32a1	T	C	2: 158,456,497 (GRCm39)	L384P	probably damaging	Het
Sorcs1	T	C	19: 50,241,025 (GRCm39)	N454D	probably benign	Het
Spag8	T	C	4: 43,652,777 (GRCm39)	Y228C	possibly damaging	Het
Spata31e4	G	A	13: 50,854,443 (GRCm39)		probably null	Het
Spc25	T	C	2: 69,030,431 (GRCm39)	I71V	probably damaging	Het
Tcte1	T	A	17: 45,846,178 (GRCm39)	F261I	probably damaging	Het
Thsd7a	T	A	6: 12,471,174 (GRCm39)	K481N	probably benign	Het
Tll2	G	T	19: 41,074,839 (GRCm39)	N908K	probably benign	Het
Tmem236	T	C	2: 14,197,091 (GRCm39)	V93A	probably benign	Het
Top2b	G	A	14: 16,408,953 (GRCm38)		probably null	Het
Topaz1	G	A	9: 122,596,076 (GRCm39)	S949N	probably benign	Het
Triobp	A	G	15: 78,857,938 (GRCm39)	T1180A	probably benign	Het
Trip11	A	C	12: 101,852,419 (GRCm39)	D548E	probably benign	Het
Trpv2	T	A	11: 62,480,652 (GRCm39)		probably null	Het
Ulbp3	A	G	10: 3,075,230 (GRCm39)		noncoding transcript	Het
Vmn1r12	T	A	6: 57,136,540 (GRCm39)	H212Q	probably damaging	Het
Vmn2r112	A	G	17: 22,837,884 (GRCm39)	T782A	possibly damaging	Het
Vmn2r7	A	G	3: 64,623,876 (GRCm39)	V239A	possibly damaging	Het
Vmn2r80	T	A	10: 79,030,053 (GRCm39)	N626K	probably damaging	Het
Vmn2r99	A	G	17: 19,600,322 (GRCm39)	S449G	probably benign	Het
Wfikkn2	T	C	11: 94,128,933 (GRCm39)	T403A	probably benign	Het
Xirp2	A	G	2: 67,346,023 (GRCm39)	I2755V	probably benign	Het
Yjefn3	A	G	8: 70,341,729 (GRCm39)	V153A	probably benign	Het
Zfp677	C	A	17: 21,617,499 (GRCm39)	H185Q	possibly damaging	Het
Zfp947	C	T	17: 22,365,273 (GRCm39)	V134I	probably benign	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
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'- ACCGTCAATACAGTGGAGTCCCTG -3'
(R):5'- TCCGTCTACTACCTGAGTGGCATC -3'

Sequencing Primer
(F):5'- ACAAGTCGCAGACCTACAGC -3'
(R):5'- ATCAGTGTAGGTTCAGGCACC -3'

Posted On

2014-04-13