Mutagenetix > Incidental Mutation

Incidental Mutation 'R8034:Otud3'

618123

Institutional Source

Beutler Lab

Gene Symbol

Otud3

Ensembl Gene

ENSMUSG00000041161

Gene Name

OTU domain containing 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138895379-138913945 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138895800 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 377 (S377G)

Ref Sequence

ENSEMBL: ENSMUSP00000095441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097830]

AlphaFold

B1AZ99

Predicted Effect

probably benign
Transcript: ENSMUST00000097830
AA Change: S377G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000095441
Gene: ENSMUSG00000041161
AA Change: S377G

Domain	Start	End	E-Value	Type
low complexity region	16	40	N/A	INTRINSIC
Pfam:OTU	70	185	3.6e-12	PFAM
coiled coil region	340	370	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,394,773	T680A	probably damaging	Het
Asb3	C	A	11: 31,081,554	Y391*	probably null	Het
BC067074	A	T	13: 113,342,511	I1530F		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
C130026I21Rik	T	A	1: 85,254,160	T180S	probably benign	Het
Ccdc80	A	G	16: 45,122,875	I783V	probably damaging	Het
Ccnf	A	G	17: 24,231,831	V391A	probably damaging	Het
Cd5l	C	A	3: 87,365,964	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,546,883	M96K	probably benign	Het
Dennd4a	T	C	9: 64,888,568	S725P	probably benign	Het
Dnah6	T	C	6: 73,129,225	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,749,856	F41L	probably benign	Het
Eif3e	A	T	15: 43,272,307	M112K	probably benign	Het
Faim	T	C	9: 98,992,733	V111A	possibly damaging	Het
Fat1	A	G	8: 44,951,691	E493G	probably benign	Het
Fsip2	A	G	2: 82,989,355	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,896,260	M1T	probably null	Het
Ggcx	T	C	6: 72,428,604	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,986,164	T259S	probably benign	Het
Gria2	T	G	3: 80,801,699	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,470,441	I47F	probably damaging	Het
Heatr6	A	G	11: 83,753,909	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,613,068		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,613,071		probably null	Het
Lcn6	T	A	2: 25,676,871	L19*	probably null	Het
Lhcgr	T	C	17: 88,742,356	T581A	probably damaging	Het
Map4k1	T	C	7: 28,988,148	I203T	probably damaging	Het
Mctp1	G	C	13: 76,891,551	L783F	probably damaging	Het
Mlf1	A	T	3: 67,384,588	M29L	probably damaging	Het
Npas3	T	A	12: 53,640,529	I159N	probably damaging	Het
Nup98	T	C	7: 102,145,723		probably null	Het
Olfr1238	A	G	2: 89,406,737	V114A	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,851	F69S	probably damaging	Het
Olfr572	A	T	7: 102,928,566	K313*	probably null	Het
Olfr734	T	C	14: 50,320,566	K90E	probably damaging	Het
Olfr867	A	G	9: 20,055,005	F35L	probably benign	Het
Olfr890	T	C	9: 38,143,677	Y176H	probably damaging	Het
Pclo	T	A	5: 14,521,200	S200T	probably damaging	Het
Pex6	G	C	17: 46,722,399	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,381,438	H2211L	possibly damaging	Het
Sec13	T	C	6: 113,735,089	K95R	probably benign	Het
Sema3c	T	C	5: 17,727,482	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,841	Y365C	probably damaging	Het
Sprr2h	A	T	3: 92,386,813	E61V	unknown	Het
Tead3	A	C	17: 28,333,229	V365G	probably damaging	Het
Trpm7	T	A	2: 126,846,199	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167	E13G	probably benign	Het
Zfp639	C	A	3: 32,520,066	A280E	probably damaging	Het

Other mutations in Otud3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01785:Otud3	APN	4	138896897	missense	probably benign
IGL01786:Otud3	APN	4	138896897	missense	probably benign
IGL02125:Otud3	APN	4	138896714	critical splice donor site	probably null
IGL03256:Otud3	APN	4	138909617	missense	probably damaging	1.00
R0647:Otud3	UTSW	4	138913637	missense	probably damaging	1.00
R1723:Otud3	UTSW	4	138898018	missense	probably damaging	0.99
R1744:Otud3	UTSW	4	138895748	missense	probably damaging	1.00
R1760:Otud3	UTSW	4	138895781	missense	possibly damaging	0.51
R1954:Otud3	UTSW	4	138898032	missense	possibly damaging	0.86
R3900:Otud3	UTSW	4	138896885	missense	probably benign
R4890:Otud3	UTSW	4	138913749	missense	probably damaging	1.00
R5534:Otud3	UTSW	4	138897583	missense	probably damaging	1.00
R5769:Otud3	UTSW	4	138898110	missense	possibly damaging	0.89
R5948:Otud3	UTSW	4	138897614	missense	probably benign	0.00
R6235:Otud3	UTSW	4	138901901	missense	probably damaging	1.00
R7121:Otud3	UTSW	4	138896756	missense	probably benign	0.01
R7189:Otud3	UTSW	4	138909554	missense	probably damaging	1.00
R7555:Otud3	UTSW	4	138901885	missense	possibly damaging	0.77
R9363:Otud3	UTSW	4	138895822	missense	probably benign	0.06
R9616:Otud3	UTSW	4	138897614	missense	probably benign	0.00
Z1177:Otud3	UTSW	4	138896775	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AACAGCTTGAAGGACACTGG -3'
(R):5'- CCAAGTGTATTTGAACAGGAACAG -3'

Sequencing Primer
(F):5'- TTGAAGGACACTGGCTCCTG -3'
(R):5'- CAGAAGAAATTCTGGTCTCTTGGGC -3'

Posted On

2020-01-23