Mutagenetix > Incidental Mutation

Incidental Mutation 'R5948:Otud3'

472275

Institutional Source

Beutler Lab

Gene Symbol

Otud3

Ensembl Gene

ENSMUSG00000041161

Gene Name

OTU domain containing 3

Synonyms

3110030K17Rik

MMRRC Submission

043244-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5948 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138622690-138641256 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138624925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 259 (Y259H)

Ref Sequence

ENSEMBL: ENSMUSP00000095441 (fasta)

Gene Model

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

AlphaFold

B1AZ99

Predicted Effect

probably benign
Transcript: ENSMUST00000097830
AA Change: Y259H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000095441
Gene: ENSMUSG00000041161
AA Change: Y259H

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	T	C	3: 37,137,504 (GRCm39)		probably null	Het
Adam8	G	T	7: 139,567,797 (GRCm39)	D341E	probably benign	Het
Ankrd6	T	C	4: 32,817,075 (GRCm39)	T351A	possibly damaging	Het
Ccdc150	T	C	1: 54,316,873 (GRCm39)	S251P	possibly damaging	Het
Cfh	T	C	1: 140,036,546 (GRCm39)	N629S	probably damaging	Het
Col4a2	T	C	8: 11,470,600 (GRCm39)	S453P	probably benign	Het
Csf2	T	C	11: 54,138,514 (GRCm39)	D109G	probably benign	Het
Dapk1	C	A	13: 60,877,209 (GRCm39)	H483N	probably damaging	Het
Dnah7c	T	G	1: 46,711,657 (GRCm39)	I2628R	probably benign	Het
Dsp	T	C	13: 38,379,377 (GRCm39)	Y2041H	possibly damaging	Het
Dusp10	A	G	1: 183,801,073 (GRCm39)	N280S	probably benign	Het
Efhc1	T	A	1: 21,043,052 (GRCm39)	Y324N	probably damaging	Het
Epsti1	T	C	14: 78,177,330 (GRCm39)	L170P	probably damaging	Het
Fbn2	C	T	18: 58,170,121 (GRCm39)	G2217R	probably damaging	Het
Fryl	A	G	5: 73,254,715 (GRCm39)		probably null	Het
Mrpl39	T	C	16: 84,522,041 (GRCm39)	N244D	probably benign	Het
Nptxr	C	T	15: 79,674,042 (GRCm39)	A445T	probably benign	Het
Or1j15	A	G	2: 36,459,363 (GRCm39)	Y251C	probably damaging	Het
Parvb	G	A	15: 84,187,662 (GRCm39)	V257M	probably damaging	Het
Piezo1	T	C	8: 123,210,086 (GRCm39)	E2258G	probably benign	Het
Prpf8	A	G	11: 75,400,015 (GRCm39)	E2303G	possibly damaging	Het
Psmc6	A	G	14: 45,572,114 (GRCm39)	D88G	probably benign	Het
Rbbp6	C	T	7: 122,596,851 (GRCm39)	T701I	probably damaging	Het
Rtl1	T	A	12: 109,557,033 (GRCm39)	D1602V	possibly damaging	Het
Rubcnl	T	C	14: 75,285,056 (GRCm39)	L525P	probably damaging	Het
Sbf2	T	C	7: 110,088,492 (GRCm39)	D73G	probably damaging	Het
Sh3tc2	T	A	18: 62,146,176 (GRCm39)	M1185K	probably damaging	Het
Shank2	A	G	7: 143,960,960 (GRCm39)	K469E	probably damaging	Het
Ttc41	T	C	10: 86,549,088 (GRCm39)	L94P	probably damaging	Het
Ttf1	G	A	2: 28,963,932 (GRCm39)	A603T	possibly damaging	Het
Usp9y	A	T	Y: 1,324,996 (GRCm39)	H1686Q	possibly damaging	Het
Vps37a	A	G	8: 40,993,752 (GRCm39)	E249G	possibly damaging	Het
Zfp273	A	G	13: 67,973,918 (GRCm39)	I316V	probably benign	Het
Zfp600	T	A	4: 146,131,645 (GRCm39)	N104K	probably damaging	Het

Other mutations in Otud3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01785:Otud3	APN	4	138,624,208 (GRCm39)	missense	probably benign
IGL01786:Otud3	APN	4	138,624,208 (GRCm39)	missense	probably benign
IGL02125:Otud3	APN	4	138,624,025 (GRCm39)	critical splice donor site	probably null
IGL03256:Otud3	APN	4	138,636,928 (GRCm39)	missense	probably damaging	1.00
R0647:Otud3	UTSW	4	138,640,948 (GRCm39)	missense	probably damaging	1.00
R1723:Otud3	UTSW	4	138,625,329 (GRCm39)	missense	probably damaging	0.99
R1744:Otud3	UTSW	4	138,623,059 (GRCm39)	missense	probably damaging	1.00
R1760:Otud3	UTSW	4	138,623,092 (GRCm39)	missense	possibly damaging	0.51
R1954:Otud3	UTSW	4	138,625,343 (GRCm39)	missense	possibly damaging	0.86
R3900:Otud3	UTSW	4	138,624,196 (GRCm39)	missense	probably benign
R4890:Otud3	UTSW	4	138,641,060 (GRCm39)	missense	probably damaging	1.00
R5534:Otud3	UTSW	4	138,624,894 (GRCm39)	missense	probably damaging	1.00
R5769:Otud3	UTSW	4	138,625,421 (GRCm39)	missense	possibly damaging	0.89
R6235:Otud3	UTSW	4	138,629,212 (GRCm39)	missense	probably damaging	1.00
R7121:Otud3	UTSW	4	138,624,067 (GRCm39)	missense	probably benign	0.01
R7189:Otud3	UTSW	4	138,636,865 (GRCm39)	missense	probably damaging	1.00
R7555:Otud3	UTSW	4	138,629,196 (GRCm39)	missense	possibly damaging	0.77
R8034:Otud3	UTSW	4	138,623,111 (GRCm39)	missense	probably benign	0.01
R9363:Otud3	UTSW	4	138,623,133 (GRCm39)	missense	probably benign	0.06
R9616:Otud3	UTSW	4	138,624,925 (GRCm39)	missense	probably benign	0.00
Z1177:Otud3	UTSW	4	138,624,086 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TGTAGATGCACAGACACTGGG -3'
(R):5'- AATGCACTGTCGTGGCTACTG -3'

Sequencing Primer
(F):5'- AGGTGCTCACAGCCTTGAAG -3'
(R):5'- CTACTGCCTTGTTTGGACTTG -3'

Posted On

2017-03-31