Mutagenetix > Incidental Mutation

Incidental Mutation 'R9793:Otud7a'

734753

Institutional Source

Beutler Lab

Gene Symbol

Otud7a

Ensembl Gene

ENSMUSG00000033510

Gene Name

OTU domain containing 7A

Synonyms

Cezanne 2 protein, Otud7

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9793 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63094499-63408776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63378845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 232 (R232W)

Ref Sequence

ENSEMBL: ENSMUSP00000057282 (fasta)

Gene Model

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

AlphaFold

Q8R554

Predicted Effect

probably damaging
Transcript: ENSMUST00000058476
AA Change: R232W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057282
Gene: ENSMUSG00000033510
AA Change: R232W

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

SMART Domains

Protein: ENSMUSP00000135559
Gene: ENSMUSG00000033510
AA Change: R231W

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	T	6: 86,078,135 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,874,822 (GRCm39)	D453G	possibly damaging	Het
Agrn	A	G	4: 156,261,129 (GRCm39)	V656A	probably benign	Het
Aldh3a1	T	C	11: 61,108,927 (GRCm39)	Y443H	probably damaging	Het
Alpk3	T	C	7: 80,750,881 (GRCm39)		probably null	Het
Ano1	A	T	7: 144,175,434 (GRCm39)	W495R	probably damaging	Het
Apc	T	A	18: 34,447,628 (GRCm39)	L1508Q	probably damaging	Het
Cald1	A	T	6: 34,723,071 (GRCm39)	M52L		Het
Ccdc9b	T	C	2: 118,587,784 (GRCm39)	S517G	unknown	Het
Cdk11b	T	A	4: 155,732,378 (GRCm39)	H510Q	unknown	Het
Cdk12	T	A	11: 98,102,051 (GRCm39)	D636E	unknown	Het
Cfap53	A	G	18: 74,438,741 (GRCm39)	D306G	probably benign	Het
Cntln	C	T	4: 84,985,798 (GRCm39)	L951F	probably benign	Het
Cntnap4	T	C	8: 113,608,357 (GRCm39)	V1259A	probably benign	Het
Cntnap5c	A	T	17: 58,409,192 (GRCm39)	T477S	probably benign	Het
Cyp4a30b	A	G	4: 115,316,167 (GRCm39)	T298A	probably benign	Het
Dop1b	T	A	16: 93,598,503 (GRCm39)	D2006E	probably benign	Het
Ermard	T	C	17: 15,281,441 (GRCm39)	L617P	probably damaging	Het
Glipr1l2	A	G	10: 111,942,905 (GRCm39)	I253M	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Grik3	A	G	4: 125,526,315 (GRCm39)	T183A	probably damaging	Het
Hao1	T	A	2: 134,372,552 (GRCm39)	Y152F	possibly damaging	Het
Hdac7	T	C	15: 97,698,671 (GRCm39)	T629A	possibly damaging	Het
Hmcn1	G	A	1: 150,608,689 (GRCm39)	P1498S	possibly damaging	Het
Iqcf3	T	A	9: 106,434,714 (GRCm39)	K41N	probably benign	Het
Kif26a	C	T	12: 112,142,887 (GRCm39)	A1047V	probably damaging	Het
Lrriq3	T	C	3: 154,893,313 (GRCm39)	M338T	probably benign	Het
Map1a	T	C	2: 121,121,304 (GRCm39)		probably null	Het
Ncoa2	G	T	1: 13,260,355 (GRCm39)	Q107K	possibly damaging	Het
Nsd2	A	G	5: 34,003,489 (GRCm39)	D213G	possibly damaging	Het
Nuggc	T	C	14: 65,847,345 (GRCm39)	S131P	probably damaging	Het
Nwd2	A	G	5: 63,964,232 (GRCm39)	E1272G	probably damaging	Het
Or2y1	A	T	11: 49,385,882 (GRCm39)	N174I	probably damaging	Het
Or4a78	T	C	2: 89,497,811 (GRCm39)	I140V	probably benign	Het
Or4f14c	T	C	2: 111,941,330 (GRCm39)	H89R	probably benign	Het
Or52m1	G	A	7: 102,289,788 (GRCm39)	V112I	probably benign	Het
Or5b113	A	T	19: 13,342,514 (GRCm39)	H174L	probably damaging	Het
Or8h9	T	A	2: 86,789,119 (GRCm39)	I228F	probably damaging	Het
Pacsin3	C	A	2: 91,094,160 (GRCm39)	A363D	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Pkd1	A	G	17: 24,800,172 (GRCm39)	T2978A	probably benign	Het
Pkhd1l1	T	C	15: 44,406,983 (GRCm39)	S2407P	probably benign	Het
Ppip5k2	A	T	1: 97,671,822 (GRCm39)	Y489*	probably null	Het
Rasgrp1	T	C	2: 117,118,429 (GRCm39)	D520G	probably benign	Het
Rbm20	C	A	19: 53,852,551 (GRCm39)	T1177K	probably benign	Het
Rex2	A	C	4: 147,142,039 (GRCm39)	N176H	probably damaging	Het
Rsl1d1	T	C	16: 11,017,300 (GRCm39)	N194S	possibly damaging	Het
Sel1l3	C	A	5: 53,329,924 (GRCm39)	R477L	probably benign	Het
Sidt2	A	G	9: 45,850,563 (GRCm39)	Y851H	probably damaging	Het
Sirpb1b	G	A	3: 15,640,074 (GRCm39)		probably benign	Het
Slc6a7	C	A	18: 61,138,866 (GRCm39)	R214L	probably benign	Het
Srrt	G	C	5: 137,294,835 (GRCm39)	I739M	probably benign	Het
Tbc1d22a	T	C	15: 86,119,839 (GRCm39)	L81P	probably damaging	Het
Trim42	A	G	9: 97,245,429 (GRCm39)	I457T	probably damaging	Het
Ttc23l	T	A	15: 10,537,731 (GRCm39)	I180F	probably benign	Het
Usp9y	T	C	Y: 1,364,679 (GRCm39)	M1045V	probably benign	Het
Vim	A	G	2: 13,579,598 (GRCm39)	D119G	probably benign	Het
Vmn2r118	T	C	17: 55,899,496 (GRCm39)	T803A	probably damaging	Het
Vwa3a	C	A	7: 120,383,307 (GRCm39)	A636D	probably damaging	Het
Wdr26	A	G	1: 181,036,812 (GRCm39)	F143S	probably 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
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
Z1176:Otud7a	UTSW	7	63,408,448 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AACGGTTTCCTGATATGTTAGTCCC -3'
(R):5'- AGAATGGCGGCTCTCCTAAC -3'

Sequencing Primer
(F):5'- GATATGTTAGTCCCTTCCTCTGCAC -3'
(R):5'- CCAGGACTGGGCTGTTGTAAG -3'

Posted On

2022-11-14