Mutagenetix > Incidental Mutation

Incidental Mutation 'R4748:Otud7a'

357291

Institutional Source

Beutler Lab

Gene Symbol

Otud7a

Ensembl Gene

ENSMUSG00000033510

Gene Name

OTU domain containing 7A

Synonyms

Cezanne 2 protein, Otud7

MMRRC Submission

042030-MU

Accession Numbers

Essential gene?

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

Stock #

R4748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63094499-63408776 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63385663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 376 (S376P)

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: S376P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000057282
Gene: ENSMUSG00000033510
AA Change: S376P

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: S382P

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135559
Gene: ENSMUSG00000033510
AA Change: S382P

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: 99.2%
3x: 98.6%
10x: 97.1%
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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,784,394 (GRCm39)	E54D	possibly damaging	Het
Abcb6	C	A	1: 75,154,002 (GRCm39)	G367W	probably damaging	Het
Asprv1	A	G	6: 86,605,405 (GRCm39)	M84V	probably damaging	Het
Aspscr1	T	C	11: 120,592,333 (GRCm39)	V291A	probably damaging	Het
B4galnt4	T	C	7: 140,651,633 (GRCm39)	F980L	probably damaging	Het
Bpi	G	A	2: 158,113,941 (GRCm39)	V280I	possibly damaging	Het
Bptf	T	C	11: 106,986,706 (GRCm39)	D581G	probably damaging	Het
Cap2	T	A	13: 46,793,302 (GRCm39)	Y223N	possibly damaging	Het
Ccdc141	A	C	2: 76,888,324 (GRCm39)	I480M	possibly damaging	Het
Ccn4	C	A	15: 66,778,489 (GRCm39)	Y103*	probably null	Het
Ccnh	T	A	13: 85,337,758 (GRCm39)	V35E	probably benign	Het
Cd6	G	T	19: 10,771,589 (GRCm39)	S433*	probably null	Het
Ceacam10	A	C	7: 24,480,477 (GRCm39)	I83L	probably benign	Het
Chek2	T	C	5: 111,003,705 (GRCm39)		probably null	Het
Chia1	A	T	3: 106,029,765 (GRCm39)	D73V	probably damaging	Het
Commd2	G	A	3: 57,554,215 (GRCm39)	T162I	probably benign	Het
Creb3l3	C	T	10: 80,921,881 (GRCm39)	A316T	probably benign	Het
Cul4a	A	G	8: 13,173,526 (GRCm39)	K1R	probably benign	Het
Cyp2c23	T	C	19: 44,005,176 (GRCm39)		probably null	Het
D630045J12Rik	T	C	6: 38,173,776 (GRCm39)	T131A	possibly damaging	Het
Dctn4	A	C	18: 60,683,308 (GRCm39)	K295N	probably damaging	Het
Dnah1	A	G	14: 31,041,902 (GRCm39)	V23A	probably benign	Het
Dync1i1	A	G	6: 5,767,048 (GRCm39)	K91E	possibly damaging	Het
Dzip1l	A	G	9: 99,524,704 (GRCm39)	D275G	probably damaging	Het
Enam	C	A	5: 88,649,402 (GRCm39)	P304T	probably damaging	Het
Enpep	A	G	3: 129,125,812 (GRCm39)	Y107H	probably damaging	Het
Exd2	T	C	12: 80,527,350 (GRCm39)	L27P	probably damaging	Het
Fam135b	T	A	15: 71,335,904 (GRCm39)	D430V	probably benign	Het
Fam222b	C	T	11: 78,045,429 (GRCm39)	T202I	possibly damaging	Het
Fmod	T	A	1: 133,968,912 (GRCm39)	N317K	probably damaging	Het
Frem2	A	G	3: 53,448,514 (GRCm39)	F2301L	probably damaging	Het
Frem3	T	C	8: 81,338,088 (GRCm39)	F127S	probably damaging	Het
Gbp7	A	G	3: 142,243,848 (GRCm39)	S132G	probably benign	Het
Gm4787	A	G	12: 81,424,830 (GRCm39)	C443R	probably damaging	Het
Grik2	T	C	10: 49,411,437 (GRCm39)	M5V	possibly damaging	Het
Helb	T	C	10: 119,920,754 (GRCm39)	D1063G	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt90	G	A	15: 101,463,768 (GRCm39)	L429F	probably damaging	Het
Lrr1	C	A	12: 69,221,236 (GRCm39)	T126K	probably benign	Het
Mgat4e	C	A	1: 134,469,766 (GRCm39)	D93Y	probably damaging	Het
Mllt3	A	T	4: 87,759,018 (GRCm39)	S343R	possibly damaging	Het
Mms19	T	A	19: 41,932,997 (GRCm39)	S1031C	probably damaging	Het
Mtrf1	C	T	14: 79,649,090 (GRCm39)	H237Y	probably damaging	Het
Nckap1l	T	A	15: 103,381,483 (GRCm39)	L408Q	probably damaging	Het
Oit3	A	T	10: 59,259,904 (GRCm39)	C500S	probably damaging	Het
Or11g1	T	G	14: 50,651,333 (GRCm39)	L111V	possibly damaging	Het
Or13c3	A	G	4: 52,856,076 (GRCm39)	S146P	possibly damaging	Het
Or4a39	C	T	2: 89,236,599 (GRCm39)	V275I	probably benign	Het
Or5d36	T	A	2: 87,900,956 (GRCm39)	I257L	probably benign	Het
Pabpc2	A	T	18: 39,907,322 (GRCm39)	K196*	probably null	Het
Paqr8	T	A	1: 21,005,637 (GRCm39)	C264S	probably benign	Het
Pgm1	T	A	4: 99,839,176 (GRCm39)	F459Y	probably benign	Het
Phip	C	A	9: 82,790,922 (GRCm39)	V675L	probably benign	Het
Pnma1	T	G	12: 84,194,497 (GRCm39)	T69P	probably benign	Het
Ppp1r14bl	T	C	1: 23,140,951 (GRCm39)	E121G	probably damaging	Het
Ptpn12	A	T	5: 21,210,383 (GRCm39)	C242*	probably null	Het
Rabep1	T	A	11: 70,799,294 (GRCm39)	V306E	probably benign	Het
Ros1	C	T	10: 51,992,093 (GRCm39)	D1377N	probably benign	Het
Ryr3	T	C	2: 112,794,750 (GRCm39)	T121A	possibly damaging	Het
Scaf11	G	A	15: 96,318,302 (GRCm39)	Q421*	probably null	Het
Shcbp1	G	A	8: 4,794,512 (GRCm39)	T427M	probably damaging	Het
Shprh	G	A	10: 11,046,220 (GRCm39)	R979H	probably damaging	Het
Slc22a27	C	T	19: 7,903,241 (GRCm39)	C163Y	probably benign	Het
Slc27a1	A	G	8: 72,033,319 (GRCm39)	D287G	probably damaging	Het
Slc27a1	C	T	8: 72,033,453 (GRCm39)	T310M	possibly damaging	Het
Slc29a3	A	G	10: 60,552,105 (GRCm39)	V313A	probably benign	Het
Slc35f2	A	T	9: 53,679,069 (GRCm39)	M1L	probably benign	Het
Sltm	G	C	9: 70,488,647 (GRCm39)	R599T	probably damaging	Het
Spic	T	A	10: 88,511,752 (GRCm39)	Q168L	probably damaging	Het
Spink6	G	A	18: 44,215,428 (GRCm39)		probably null	Het
Stac2	T	C	11: 97,932,198 (GRCm39)	E235G	possibly damaging	Het
Szt2	G	A	4: 118,246,388 (GRCm39)	Q957*	probably null	Het
Them7	A	T	2: 105,208,991 (GRCm39)	T104S	possibly damaging	Het
Tmed4	T	A	11: 6,221,716 (GRCm39)	I207F	possibly damaging	Het
Tmem248	A	G	5: 130,265,731 (GRCm39)	E178G	probably benign	Het
Tomm40l	G	A	1: 171,047,131 (GRCm39)	R296*	probably null	Het
Trim80	C	A	11: 115,338,964 (GRCm39)	T598N	possibly damaging	Het
Trim9	T	C	12: 70,295,047 (GRCm39)	N688D	probably damaging	Het
Vil1	C	T	1: 74,460,425 (GRCm39)	A194V	probably damaging	Het
Vmn2r61	A	T	7: 41,916,565 (GRCm39)	M393L	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Vps33b	G	T	7: 79,939,796 (GRCm39)	A516S	probably damaging	Het
Zc3h6	G	A	2: 128,844,160 (GRCm39)	G235R	probably damaging	Het
Zfp612	T	A	8: 110,815,304 (GRCm39)	D170E	probably benign	Het
Zfp746	A	G	6: 48,041,490 (GRCm39)	I412T	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
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
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'- GTCCTAGTCCTGAGCACTAATTCTG -3'
(R):5'- CTACGCAGAAACCACGGTTG -3'

Sequencing Primer
(F):5'- AGCACTAATTCTGCTCCCCTG -3'
(R):5'- GAAACCACGGTTGATCCCTG -3'

Posted On

2015-11-11