Mutagenetix > Incidental Mutation

Incidental Mutation 'R1723:Otud3'

191601

Institutional Source

Beutler Lab

Gene Symbol

Otud3

Ensembl Gene

ENSMUSG00000041161

Gene Name

OTU domain containing 3

Synonyms

3110030K17Rik

MMRRC Submission

039755-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138622690-138641256 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138625329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 242 (T242A)

Ref Sequence

ENSEMBL: ENSMUSP00000095441 (fasta)

Gene Model

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

AlphaFold

B1AZ99

Predicted Effect

probably damaging
Transcript: ENSMUST00000097830
AA Change: T242A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095441
Gene: ENSMUSG00000041161
AA Change: T242A

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

0.1261

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	T	6: 85,605,735 (GRCm39)	G2462C	probably damaging	Het
Anapc5	T	C	5: 122,937,406 (GRCm39)	E464G	probably damaging	Het
Aoc3	T	A	11: 101,227,261 (GRCm39)	V378E	possibly damaging	Het
Atp13a5	T	A	16: 29,051,551 (GRCm39)	K1152I	possibly damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Calcoco1	C	A	15: 102,627,988 (GRCm39)	G49C	probably damaging	Het
Cd70	T	C	17: 57,453,401 (GRCm39)	T88A	possibly damaging	Het
Cpeb1	C	T	7: 81,085,974 (GRCm39)	R56Q	probably benign	Het
Dglucy	A	G	12: 100,808,938 (GRCm39)	Y212C	probably damaging	Het
Dnhd1	C	A	7: 105,364,127 (GRCm39)	P4160T	possibly damaging	Het
Ecel1	T	C	1: 87,082,143 (GRCm39)	D190G	probably benign	Het
Exoc6b	A	G	6: 85,046,326 (GRCm39)	L21P	probably damaging	Het
Fam110c	A	G	12: 31,124,394 (GRCm39)	R119G	unknown	Het
Gask1b	T	A	3: 79,843,970 (GRCm39)	N32K	probably benign	Het
Gm42791	C	A	5: 148,896,311 (GRCm39)		probably benign	Het
Hpcal4	A	G	4: 123,084,532 (GRCm39)	I154V	probably benign	Het
Itgb1	A	G	8: 129,452,519 (GRCm39)	D728G	probably damaging	Het
Kdm5d	A	T	Y: 927,753 (GRCm39)	D701V	probably damaging	Het
Kif18a	A	G	2: 109,133,227 (GRCm39)	K448E	probably damaging	Het
Kif26a	T	C	12: 112,140,292 (GRCm39)	F507S	possibly damaging	Het
Kmt2c	C	T	5: 25,520,003 (GRCm39)	G2036R	probably damaging	Het
Lrrc43	T	A	5: 123,630,276 (GRCm39)		probably benign	Het
Map3k20	T	C	2: 72,219,836 (GRCm39)	I256T	probably damaging	Het
Med29	T	A	7: 28,092,130 (GRCm39)		probably benign	Het
Mob3b	A	G	4: 34,954,026 (GRCm39)	C215R	probably damaging	Het
Mtf2	T	C	5: 108,235,936 (GRCm39)	Y87H	probably damaging	Het
Myo18a	G	A	11: 77,744,140 (GRCm39)	R1834K	probably damaging	Het
Nlrc4	T	A	17: 74,748,903 (GRCm39)	D779V	probably damaging	Het
Or51q1c	T	C	7: 103,652,518 (GRCm39)	F18S	probably damaging	Het
Pcare	A	T	17: 72,057,373 (GRCm39)	F768Y	probably damaging	Het
Pnliprp1	T	A	19: 58,720,574 (GRCm39)	M150K	possibly damaging	Het
Polm	T	A	11: 5,784,776 (GRCm39)	Q227L	probably benign	Het
Poln	A	G	5: 34,280,016 (GRCm39)	V282A	probably benign	Het
Ppfia2	T	A	10: 106,751,533 (GRCm39)		probably null	Het
Rad51	T	G	2: 118,954,295 (GRCm39)	M168R	probably benign	Het
Senp2	A	G	16: 21,846,792 (GRCm39)	T266A	probably benign	Het
Sfswap	A	G	5: 129,616,758 (GRCm39)	T401A	probably benign	Het
Slc35a4	C	A	18: 36,815,788 (GRCm39)	T206K	possibly damaging	Het
Slc40a1	A	G	1: 45,963,921 (GRCm39)	S23P	probably damaging	Het
Spef2	T	C	15: 9,614,295 (GRCm39)	K1217R	probably damaging	Het
St18	A	C	1: 6,880,909 (GRCm39)		probably benign	Het
Tdrd6	T	C	17: 43,939,218 (GRCm39)	D610G	possibly damaging	Het
Tmem163	C	A	1: 127,479,108 (GRCm39)	R137L	probably damaging	Het
Tmem94	T	A	11: 115,685,574 (GRCm39)	D942E	probably damaging	Het
Ttn	T	A	2: 76,580,754 (GRCm39)	I23380F	possibly damaging	Het
Uckl1	T	A	2: 181,212,393 (GRCm39)		probably null	Het
Vav2	T	C	2: 27,208,976 (GRCm39)	D99G	possibly damaging	Het
Vmn2r30	T	A	7: 7,337,259 (GRCm39)	I126F	probably benign	Het
Zbtb41	A	T	1: 139,351,301 (GRCm39)	Q138L	probably benign	Het
Zfp599	T	C	9: 22,169,361 (GRCm39)	Y37C	probably damaging	Het
Zfp784	T	A	7: 5,038,782 (GRCm39)	T259S	possibly damaging	Het
Zfp954	T	C	7: 7,118,837 (GRCm39)	S236G	probably benign	Het
Zng1	A	G	19: 24,925,458 (GRCm39)	V166A	possibly 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
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
R5948:Otud3	UTSW	4	138,624,925 (GRCm39)	missense	probably benign	0.00
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'- ACACAGAGAAGCGGTTCCAAGC -3'
(R):5'- GCTGGAGCAATGGTTCCTATGCTG -3'

Sequencing Primer
(F):5'- CTAGACCTGTACTAGGGCAAGC -3'
(R):5'- GTTTCTTTCATTTAGTTCCAGATGC -3'

Posted On

2014-05-14