Mutagenetix > Incidental Mutation

Incidental Mutation 'R7670:Otud4'

628373

Institutional Source

Beutler Lab

Gene Symbol

Otud4

Ensembl Gene

ENSMUSG00000036990

Gene Name

OTU domain containing 4

Synonyms

4930431L18Rik, D8Ertd69e

MMRRC Submission

045742-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R7670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79639618-79677724 bp(+) (GRCm38)

Type of Mutation

splice site (72 bp from exon)

DNA Base Change (assembly)

T to A at 79655864 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173078] [ENSMUST00000173286]

AlphaFold

B2RRE7

Predicted Effect

probably null
Transcript: ENSMUST00000173078

SMART Domains

Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990

Domain	Start	End	E-Value	Type
Pfam:OTU	40	154	3.4e-17	PFAM
low complexity region	189	213	N/A	INTRINSIC
Blast:TUDOR	280	335	2e-7	BLAST
low complexity region	392	405	N/A	INTRINSIC
low complexity region	473	486	N/A	INTRINSIC
low complexity region	543	555	N/A	INTRINSIC
low complexity region	1014	1025	N/A	INTRINSIC
low complexity region	1082	1104	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000173286

SMART Domains

Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990

Domain	Start	End	E-Value	Type
Pfam:OTU	40	149	5.3e-21	PFAM
low complexity region	189	213	N/A	INTRINSIC
Blast:TUDOR	280	334	9e-9	BLAST
low complexity region	391	404	N/A	INTRINSIC
low complexity region	472	485	N/A	INTRINSIC
low complexity region	542	554	N/A	INTRINSIC
low complexity region	1013	1024	N/A	INTRINSIC
low complexity region	1081	1103	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
Adam26a	T	A	8: 43,570,153	H100L	probably benign	Het
Adgrf2	T	C	17: 42,711,372	N187S	probably damaging	Het
Adipoq	T	A	16: 23,157,582	H244Q	probably damaging	Het
Arhgap40	T	A	2: 158,531,925	S209T	probably benign	Het
Arrdc3	C	T	13: 80,889,093	L123F	probably damaging	Het
Aspscr1	A	G	11: 120,689,039	N212D	probably benign	Het
Ccr9	A	T	9: 123,779,306	S18C	probably damaging	Het
Cdc42bpa	T	A	1: 180,065,081	V270D	probably damaging	Het
Clic4	A	G	4: 135,217,205	Y220H	probably damaging	Het
Cntln	A	C	4: 84,979,340	H388P	possibly damaging	Het
Col12a1	A	G	9: 79,631,643	V2457A	probably damaging	Het
Ctsk	A	G	3: 95,501,614	N103D	probably benign	Het
Ddx60	T	C	8: 61,975,792	S779P	probably damaging	Het
Dnah5	T	A	15: 28,246,232		probably null	Het
Dnah7b	T	A	1: 46,109,302	D279E	probably benign	Het
Fam117a	A	G	11: 95,378,834	N308S	probably benign	Het
Fasn	A	G	11: 120,813,419	V1419A	probably damaging	Het
Fhad1	A	G	4: 141,951,491	S625P	probably benign	Het
Gemin5	A	G	11: 58,147,928	V585A	probably benign	Het
Gm5145	C	A	17: 20,570,384	P8Q	probably benign	Het
Gm8332	T	C	12: 88,249,754	N116S	probably benign	Het
Herc1	C	A	9: 66,416,347	T1381K	probably damaging	Het
Herc6	T	C	6: 57,660,122	I824T	probably damaging	Het
Klrb1	C	T	6: 128,710,087	V161I	probably benign	Het
Krtap31-1	A	G	11: 99,908,432	N154D	not run	Het
Lcp1	A	T	14: 75,200,431	I94F	probably benign	Het
Lin7a	A	T	10: 107,382,691	Q154L	possibly damaging	Het
Lnx1	T	C	5: 74,685,690	Y33C	probably damaging	Het
Myo5b	T	C	18: 74,701,446	V859A	probably benign	Het
Ncbp1	A	G	4: 46,170,015	Q696R	probably damaging	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Nme8	T	C	13: 19,658,829	E392G	probably benign	Het
Nufip1	CAAAACAGAAAACAGAAAAC	CAAAACAGAAAACAGAAAACAGAAAAC	14: 76,111,974		probably null	Het
Nuggc	A	G	14: 65,613,526	I298V	probably damaging	Het
Nup155	A	C	15: 8,153,696	K1247Q	probably damaging	Het
Olfr368	A	T	2: 37,331,759	E4V	probably benign	Het
Olfr403	A	G	11: 74,196,207	K235E	probably damaging	Het
Pcdhb18	T	C	18: 37,491,696	V693A	probably damaging	Het
Pcnx3	A	G	19: 5,677,182	F1108L	probably benign	Het
Prkca	A	T	11: 108,014,344	N189K	probably damaging	Het
Rbm24	A	G	13: 46,429,207	I201V	probably benign	Het
Reep6	T	C	10: 80,333,793	L105P	probably damaging	Het
Retreg1	T	C	15: 25,941,040		probably benign	Het
Rev3l	C	T	10: 39,836,722	T2382I	probably benign	Het
Rnf31	A	G	14: 55,594,361	N230S	probably benign	Het
Rreb1	T	C	13: 37,931,572	L969P	probably benign	Het
Rsph4a	T	A	10: 33,909,033	N313K	probably damaging	Het
Serpina3f	T	A	12: 104,217,266	L129Q	probably damaging	Het
Slc9a2	T	A	1: 40,718,997	V232D	probably damaging	Het
Stmn2	T	C	3: 8,554,865	L121P	probably damaging	Het
Svep1	C	T	4: 58,097,424	G1373D	probably damaging	Het
Tmem206	A	G	1: 191,340,868	N162S	probably benign	Het
Tns1	C	A	1: 73,952,477	R1014L	possibly damaging	Het
Top2b	T	C	14: 16,416,620	S1127P	possibly damaging	Het
Txndc16	A	T	14: 45,135,867	C768*	probably null	Het
Ubl7	A	T	9: 57,929,769	E354D	probably benign	Het
Ush2a	T	C	1: 188,784,708	L3205P	possibly damaging	Het
Xirp2	A	G	2: 67,510,573	T1053A	possibly damaging	Het
Zbtb21	A	G	16: 97,951,877	L402P	probably damaging	Het
Zfp27	T	A	7: 29,894,796	K581N	possibly damaging	Het
Zfp62	A	T	11: 49,215,076		probably benign	Het

Other mutations in Otud4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Otud4	APN	8	79672881	missense	probably damaging	0.99
IGL01353:Otud4	APN	8	79665021	missense	probably benign
IGL01371:Otud4	APN	8	79673761	missense	probably damaging	1.00
IGL01782:Otud4	APN	8	79673011	missense	possibly damaging	0.95
IGL01912:Otud4	APN	8	79673837	missense	probably benign
IGL02294:Otud4	APN	8	79664977	splice site	probably benign
IGL02830:Otud4	APN	8	79673301	missense	probably benign	0.00
IGL03063:Otud4	APN	8	79663790	missense	probably benign	0.01
IGL03077:Otud4	APN	8	79673458	missense	probably damaging	0.97
R0437:Otud4	UTSW	8	79669997	missense	probably benign	0.02
R1024:Otud4	UTSW	8	79664093	missense	probably benign	0.01
R1118:Otud4	UTSW	8	79653351	splice site	probably benign
R1296:Otud4	UTSW	8	79673974	missense	unknown
R1321:Otud4	UTSW	8	79669950	missense	probably benign	0.03
R1674:Otud4	UTSW	8	79673147	missense	probably benign	0.12
R1736:Otud4	UTSW	8	79651665	splice site	probably benign
R1815:Otud4	UTSW	8	79639989	nonsense	probably null
R1950:Otud4	UTSW	8	79646332	missense	probably damaging	0.99
R1985:Otud4	UTSW	8	79640012	missense	probably damaging	1.00
R2173:Otud4	UTSW	8	79668464	missense	probably damaging	1.00
R2869:Otud4	UTSW	8	79661073	missense	possibly damaging	0.82
R2869:Otud4	UTSW	8	79661073	missense	possibly damaging	0.82
R2870:Otud4	UTSW	8	79661073	missense	possibly damaging	0.82
R2870:Otud4	UTSW	8	79661073	missense	possibly damaging	0.82
R2872:Otud4	UTSW	8	79661073	missense	possibly damaging	0.82
R2872:Otud4	UTSW	8	79661073	missense	possibly damaging	0.82
R2907:Otud4	UTSW	8	79673068	missense	probably benign	0.02
R3545:Otud4	UTSW	8	79665055	missense	probably damaging	1.00
R4628:Otud4	UTSW	8	79639968	missense	possibly damaging	0.73
R4790:Otud4	UTSW	8	79666773	missense	possibly damaging	0.82
R4989:Otud4	UTSW	8	79655689	missense	probably damaging	1.00
R5133:Otud4	UTSW	8	79655689	missense	probably damaging	1.00
R5134:Otud4	UTSW	8	79655689	missense	probably damaging	1.00
R5294:Otud4	UTSW	8	79672892	missense	possibly damaging	0.54
R5410:Otud4	UTSW	8	79672997	missense	probably benign	0.04
R5454:Otud4	UTSW	8	79651042	missense	possibly damaging	0.94
R5579:Otud4	UTSW	8	79664108	missense	probably benign
R5738:Otud4	UTSW	8	79673461	missense	probably benign	0.02
R5886:Otud4	UTSW	8	79672807	missense	probably damaging	1.00
R6062:Otud4	UTSW	8	79673896	missense	probably damaging	1.00
R6364:Otud4	UTSW	8	79646341	missense	probably damaging	0.99
R6427:Otud4	UTSW	8	79668497	missense	probably benign	0.00
R6450:Otud4	UTSW	8	79672997	missense	probably benign	0.04
R6744:Otud4	UTSW	8	79673778	nonsense	probably null
R6773:Otud4	UTSW	8	79643806	missense	possibly damaging	0.95
R7046:Otud4	UTSW	8	79651042	missense	possibly damaging	0.94
R7142:Otud4	UTSW	8	79672762	splice site	probably null
R7420:Otud4	UTSW	8	79664108	missense	probably benign	0.11
R7470:Otud4	UTSW	8	79673360	missense	probably benign	0.00
R7736:Otud4	UTSW	8	79655765	missense	possibly damaging	0.53
R8229:Otud4	UTSW	8	79673975	missense	unknown
R8397:Otud4	UTSW	8	79669298	missense	probably benign	0.06
R8520:Otud4	UTSW	8	79659267	missense	probably damaging	1.00
R9041:Otud4	UTSW	8	79673812	missense	probably damaging	0.98
R9291:Otud4	UTSW	8	79646323	missense	probably damaging	1.00
R9495:Otud4	UTSW	8	79673458	missense	probably damaging	1.00
R9502:Otud4	UTSW	8	79673851	missense	probably benign	0.01
X0024:Otud4	UTSW	8	79646310	missense	probably benign	0.01
Z1176:Otud4	UTSW	8	79658929	missense	probably benign
Z1177:Otud4	UTSW	8	79643811	nonsense	probably null
Z1177:Otud4	UTSW	8	79643812	missense	probably damaging	0.99
Z1177:Otud4	UTSW	8	79665027	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- ACAGCTCTCCTTTATGAGTTGC -3'
(R):5'- AACCGCACTTCATCACTGG -3'

Sequencing Primer
(F):5'- GCTGTATGAGAAGGTATTCAAAACTG -3'
(R):5'- ACTGGATGTGAAAACAAGGTAAC -3'

Posted On

2020-03-13