Mutagenetix > Incidental Mutation

Incidental Mutation 'R6185:Otud7a'

502105

Institutional Source

Beutler Lab

Gene Symbol

Otud7a

Ensembl Gene

ENSMUSG00000033510

Gene Name

OTU domain containing 7A

Synonyms

Cezanne 2 protein, Otud7

MMRRC Submission

044325-MU

Accession Numbers

Essential gene?

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

Stock #

R6185 (G1)

Quality Score

166.009

Status

Validated

Chromosome

Chromosomal Location

63094499-63408776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63408133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 812 (L812Q)

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: L812Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057282
Gene: ENSMUSG00000033510
AA Change: L812Q

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

Meta Mutation Damage Score

0.0971

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,078,089 (GRCm39)	H894Q	probably benign	Het
Abca4	A	T	3: 121,919,789 (GRCm39)	I1024F	probably damaging	Het
Acadl	A	G	1: 66,877,522 (GRCm39)	V343A	possibly damaging	Het
Akr1e1	T	A	13: 4,651,252 (GRCm39)	I123L	probably benign	Het
Angptl2	T	C	2: 33,119,026 (GRCm39)	S267P	probably benign	Het
Ap2a1	T	G	7: 44,565,594 (GRCm39)	K91T	probably damaging	Het
Bend7	A	T	2: 4,793,333 (GRCm39)	Q379L	probably damaging	Het
Bicdl1	C	T	5: 115,808,212 (GRCm39)		probably null	Het
Cachd1	C	A	4: 100,838,228 (GRCm39)	Y830*	probably null	Het
Ccdc158	T	A	5: 92,814,713 (GRCm39)	I38F	possibly damaging	Het
Cep97	T	A	16: 55,735,455 (GRCm39)	M448L	probably benign	Het
Chd9	A	G	8: 91,775,765 (GRCm39)	D2572G	probably damaging	Het
Clcnkb	C	T	4: 141,141,825 (GRCm39)	V54M	probably benign	Het
Cln8	A	G	8: 14,946,544 (GRCm39)	D186G	probably benign	Het
Crxos	C	T	7: 15,636,805 (GRCm39)	S22L	possibly damaging	Het
Cx3cr1	A	T	9: 119,880,444 (GRCm39)	H319Q	probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Dmrta1	A	G	4: 89,580,005 (GRCm39)	R322G	probably damaging	Het
Dpf1	A	G	7: 29,010,696 (GRCm39)	E103G	possibly damaging	Het
Dsg1b	T	G	18: 20,532,543 (GRCm39)	V529G	probably benign	Het
Dst	G	A	1: 34,212,161 (GRCm39)	V1361I	probably damaging	Het
Epha4	T	C	1: 77,483,743 (GRCm39)	I89V	probably damaging	Het
Etfdh	G	T	3: 79,513,114 (GRCm39)	H370N	probably benign	Het
Fam186a	A	G	15: 99,845,530 (GRCm39)	I238T	unknown	Het
Fbxl5	T	A	5: 43,978,894 (GRCm39)	S19C	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fryl	A	G	5: 73,270,131 (GRCm39)	V367A	probably benign	Het
Gm19410	T	A	8: 36,274,664 (GRCm39)	L1495H	possibly damaging	Het
Gm19965	A	G	1: 116,749,003 (GRCm39)	E228G	possibly damaging	Het
Gpr89	C	A	3: 96,798,149 (GRCm39)	C169F	probably damaging	Het
Hmcn1	A	T	1: 150,491,189 (GRCm39)		probably null	Het
Hsph1	A	T	5: 149,541,160 (GRCm39)	C753S	probably damaging	Het
Igf2	T	A	7: 142,212,118 (GRCm39)	S4C	possibly damaging	Het
Kansl3	A	T	1: 36,385,099 (GRCm39)	S486T	probably damaging	Het
Khdrbs1	G	C	4: 129,636,068 (GRCm39)		probably benign	Het
Lnx1	A	T	5: 74,846,269 (GRCm39)	C60*	probably null	Het
Lrpprc	T	C	17: 85,074,452 (GRCm39)	D485G	probably benign	Het
Ly6i	A	T	15: 74,851,879 (GRCm39)	S97T	possibly damaging	Het
Me2	G	A	18: 73,924,199 (GRCm39)	Q338*	probably null	Het
Med16	A	T	10: 79,732,197 (GRCm39)	L790Q	probably damaging	Het
Muc16	G	T	9: 18,565,769 (GRCm39)	T2250K	unknown	Het
Myo10	T	G	15: 25,726,596 (GRCm39)	F273C	probably damaging	Het
Neil3	T	A	8: 54,052,182 (GRCm39)	H472L	probably benign	Het
Nrxn1	T	A	17: 90,344,564 (GRCm39)	S57C	probably damaging	Het
Nup188	A	T	2: 30,231,722 (GRCm39)	T1439S	probably damaging	Het
Or10g3	T	C	14: 52,610,019 (GRCm39)	T164A	possibly damaging	Het
Or10g7	T	C	9: 39,905,420 (GRCm39)	F105L	probably benign	Het
Or5w10	A	G	2: 87,375,087 (GRCm39)	M267T	possibly damaging	Het
Paip2b	C	T	6: 83,786,952 (GRCm39)	A95T	probably benign	Het
Pax4	C	T	6: 28,446,347 (GRCm39)	V49I	probably damaging	Het
Plek	C	T	11: 16,931,829 (GRCm39)	A341T	probably damaging	Het
Prkag1	G	A	15: 98,723,595 (GRCm39)	P10L	probably benign	Het
R3hdm1	A	C	1: 128,079,598 (GRCm39)	D15A	possibly damaging	Het
Rad54b	A	T	4: 11,593,804 (GRCm39)	D144V	possibly damaging	Het
Rmi2	C	T	16: 10,704,073 (GRCm39)	T138I	probably benign	Het
Sbf1	A	G	15: 89,189,814 (GRCm39)	L379P	probably damaging	Het
Sec14l3	A	T	11: 4,025,244 (GRCm39)	I285F	probably damaging	Het
Sec31b	A	T	19: 44,531,723 (GRCm39)	I62N	possibly damaging	Het
Selp	A	G	1: 163,953,915 (GRCm39)	N72D	probably damaging	Het
Sipa1l1	T	A	12: 82,471,802 (GRCm39)	S1261T	probably damaging	Het
Sipa1l2	A	T	8: 126,194,992 (GRCm39)	Y915*	probably null	Het
Slc22a27	A	T	19: 7,903,953 (GRCm39)	D61E	probably benign	Het
Slc2a7	A	G	4: 150,233,450 (GRCm39)	T8A	probably benign	Het
Slc5a2	T	C	7: 127,870,349 (GRCm39)	I529T	probably damaging	Het
Spart	A	C	3: 55,024,640 (GRCm39)	Q78H	probably damaging	Het
Spocd1	T	C	4: 129,850,242 (GRCm39)	I756T	probably benign	Het
Stc1	G	A	14: 69,275,813 (GRCm39)	C202Y	probably damaging	Het
Stk10	A	G	11: 32,527,749 (GRCm39)	T166A	probably benign	Het
Syt6	A	T	3: 103,492,844 (GRCm39)	D32V	probably damaging	Het
Tanc1	T	A	2: 59,621,929 (GRCm39)		probably null	Het
Tanc2	T	A	11: 105,803,865 (GRCm39)	N297K	probably damaging	Het
Telo2	A	G	17: 25,321,014 (GRCm39)	S734P	probably benign	Het
Tfrc	T	A	16: 32,437,090 (GRCm39)	Y250N	probably benign	Het
Tmem97	C	T	11: 78,434,388 (GRCm39)	W65*	probably null	Het
Ubr3	T	C	2: 69,768,621 (GRCm39)	M476T	probably damaging	Het
Ubtf	T	C	11: 102,204,849 (GRCm39)	T117A	probably damaging	Het
Usp17lb	T	A	7: 104,490,631 (GRCm39)	M99L	probably benign	Het
Uvrag	A	C	7: 98,790,039 (GRCm39)		probably null	Het
Vmn2r63	A	G	7: 42,578,435 (GRCm39)	S153P	probably damaging	Het
Vmn2r90	A	T	17: 17,953,644 (GRCm39)	T603S	probably damaging	Het
Vps8	C	A	16: 21,288,891 (GRCm39)	L417I	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
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'- TGGTGCTCAAGCTCAAGGAG -3'
(R):5'- CTCTCGGTAGCAATAGGAGCAG -3'

Sequencing Primer
(F):5'- CTCAAGGAGCGGCCGAG -3'
(R):5'- CAGAAGTGCTCGGTCTCC -3'

Posted On

2018-02-27