Mutagenetix > Incidental Mutation

Incidental Mutation 'R4890:Otud3'

434634

Institutional Source

Beutler Lab

Gene Symbol

Otud3

Ensembl Gene

ENSMUSG00000041161

Gene Name

OTU domain containing 3

Synonyms

MMRRC Submission

042495-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4890 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

138895379-138913945 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138913749 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 27 (R27W)

Ref Sequence

ENSEMBL: ENSMUSP00000095441 (fasta)

Gene Model

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

AlphaFold

B1AZ99

Predicted Effect

probably damaging
Transcript: ENSMUST00000097830
AA Change: R27W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095441
Gene: ENSMUSG00000041161
AA Change: R27W

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

Meta Mutation Damage Score

0.2750

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

99% (81/82)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700080E11Rik	A	T	9: 105,144,587	S87T	possibly damaging	Het
AA986860	T	C	1: 130,740,988		probably benign	Het
Adcy4	C	T	14: 55,779,029	D322N	probably damaging	Het
Adgrb3	T	C	1: 25,221,827	N916S	probably damaging	Het
AI464131	G	A	4: 41,498,877	T251M	probably benign	Het
Aox2	T	C	1: 58,334,703	V841A	probably benign	Het
Baz2b	A	T	2: 59,926,039	M983K	probably damaging	Het
BC027072	C	T	17: 71,752,311	V124I	possibly damaging	Het
C2cd2l	A	G	9: 44,311,133	F682L	probably damaging	Het
Ccsap	T	G	8: 123,845,421	E114A	possibly damaging	Het
Cept1	T	A	3: 106,505,807	T201S	probably damaging	Het
Cfap221	T	C	1: 119,955,746	M232V	probably benign	Het
Chsy1	A	G	7: 66,110,226	R106G	probably benign	Het
Cit	C	T	5: 115,988,123		probably benign	Het
Cldn7	G	A	11: 69,967,092	V42I	probably benign	Het
Cnnm4	T	A	1: 36,472,264	V191E	probably benign	Het
Cntf	A	T	19: 12,763,962	V178D	possibly damaging	Het
Ctsz	C	A	2: 174,428,600	R263L	probably damaging	Het
Dclk1	T	C	3: 55,521,932	M407T	probably benign	Het
Dennd1a	A	T	2: 38,176,226		probably benign	Het
Dnhd1	A	G	7: 105,656,957	I368V	possibly damaging	Het
Fam159a	A	G	4: 108,367,801	V188A	probably benign	Het
Gak	A	T	5: 108,580,876		probably benign	Het
Gm12794	A	G	4: 101,941,591	E253G	probably damaging	Het
Gm9268	A	G	7: 43,047,600	R687G	probably damaging	Het
Hepacam2	A	T	6: 3,487,231	V42D	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,327,310		probably benign	Het
Insr	T	A	8: 3,198,234	Q437L	probably benign	Het
Itga8	G	A	2: 12,193,291		probably benign	Het
Kansl1	A	T	11: 104,343,042	C732S	probably benign	Het
Kdsr	T	C	1: 106,753,234	K78R	probably benign	Het
Kif14	T	C	1: 136,487,130	S785P	possibly damaging	Het
Lbr	C	A	1: 181,817,568	L506F	probably benign	Het
Macf1	C	A	4: 123,448,238	C2720F	probably damaging	Het
Mapt	G	A	11: 104,328,149	D738N	probably damaging	Het
Mroh9	T	C	1: 163,026,524	Y769C	probably damaging	Het
Mylk2	A	G	2: 152,920,354	N515S	possibly damaging	Het
Nek10	T	A	14: 14,860,986	L513M	possibly damaging	Het
Nrxn2	A	T	19: 6,448,278	S258C	possibly damaging	Het
Olfr1024	C	T	2: 85,904,748	C102Y	possibly damaging	Het
Olfr1346	T	A	7: 6,474,849	C246*	probably null	Het
Olfr672	G	A	7: 104,996,104	H267Y	probably benign	Het
Olfr786	C	T	10: 129,437,079	T89I	probably benign	Het
Olfr893	G	T	9: 38,209,290	C79F	probably benign	Het
Osgin2	G	A	4: 16,013,739		probably benign	Het
Pcdhga12	T	A	18: 37,768,237	F707L	possibly damaging	Het
Pik3r1	T	C	13: 101,757,610	E17G	probably damaging	Het
Prickle4	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	17: 47,689,881		probably benign	Het
Prokr1	G	A	6: 87,588,696	R56W	probably benign	Het
Ptprz1	G	A	6: 23,024,958	C1731Y	probably damaging	Het
Rbm15b	A	T	9: 106,885,829	F380Y	possibly damaging	Het
Rfc5	G	A	5: 117,386,820	L56F	probably damaging	Het
Rhpn2	A	T	7: 35,390,803	M617L	probably benign	Het
Rusc1	T	C	3: 89,088,270		probably null	Het
Sec23ip	A	G	7: 128,752,910	N297D	probably damaging	Het
Sema3c	A	T	5: 17,675,159	H259L	probably benign	Het
Sgsm1	G	A	5: 113,280,462		probably benign	Het
Sipa1l2	T	A	8: 125,491,867	S244C	probably damaging	Het
Slc39a5	T	C	10: 128,398,447	I196V	probably benign	Het
Smim22	G	A	16: 5,007,858	A36T	probably damaging	Het
Spag6	A	G	2: 18,742,777	I408V	probably benign	Het
Sult2a5	A	G	7: 13,625,386	I96V	probably benign	Het
Tmcc2	C	A	1: 132,380,779	A126S	probably benign	Het
Tsc2	A	T	17: 24,600,035	S1276T	probably damaging	Het
Ttc21a	A	G	9: 119,959,037	S843G	probably benign	Het
Tubd1	G	C	11: 86,552,795	V110L	possibly damaging	Het
Ugt1a2	T	A	1: 88,200,812	V59D	probably damaging	Het
Vsig8	T	A	1: 172,561,575	H131Q	probably benign	Het
Zbtb42	C	A	12: 112,680,427	Y345*	probably null	Het
Zfp612	T	A	8: 110,089,944	C594*	probably null	Het
Zfp940	A	G	7: 29,845,399	V361A	probably benign	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
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
R8034:Otud3	UTSW	4	138895800	missense	probably benign	0.01
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'- TTCATGACAGCTGCACCTCG -3'
(R):5'- AAACAGGTGCTTCTCTAGTCTTCC -3'

Sequencing Primer
(F):5'- AGCGTTCCACCAAGCCTG -3'
(R):5'- TACCACCACGTGACCTGG -3'

Posted On

2016-10-14