Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01785:Otud3'

278867

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otud3

Ensembl Gene

Gene Name

OTU domain containing 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

IGL01785

Quality Score

Status

Chromosome

Chromosomal Location

138895379-138913945 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138896897 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 278 (D278G)

Ref Sequence

ENSEMBL: ENSMUSP00000095441 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097830
AA Change: D278G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095441
Gene: ENSMUSG00000041161
AA Change: D278G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,915,058	Y309*	probably null	Het
Abhd18	G	A	3: 40,905,904	R42Q	probably damaging	Het
Ano3	T	A	2: 110,682,715	Q645L	probably damaging	Het
Clasp1	T	A	1: 118,497,736	L272Q	possibly damaging	Het
Clec1b	A	G	6: 129,403,562	D115G	probably damaging	Het
Clec2e	A	T	6: 129,093,401		probably benign	Het
Corin	T	C	5: 72,339,876	N532S	probably damaging	Het
Csn1s2b	A	G	5: 87,809,913	K2R	possibly damaging	Het
Mcm8	A	G	2: 132,827,948	D314G	probably benign	Het
Mga	T	A	2: 119,902,912	D80E	probably damaging	Het
Msh4	A	G	3: 153,857,507	L744P	probably damaging	Het
Myof	A	T	19: 37,980,423	L348*	probably null	Het
Olfr1348	T	C	7: 6,501,900	I109V	probably benign	Het
Olfr530	T	A	7: 140,373,125	M162L	probably benign	Het
Pdpr	C	A	8: 111,129,656	H670Q	probably damaging	Het
Phf21b	C	A	15: 84,808,061		probably benign	Het
Polr3a	G	A	14: 24,484,120	Q106*	probably null	Het
Ptprm	G	T	17: 66,685,623	N1366K	probably damaging	Het
Slc10a5	G	A	3: 10,335,199	P134S	probably benign	Het
Slc30a9	A	G	5: 67,346,238		probably benign	Het
Stat6	T	A	10: 127,657,227	V576D	probably damaging	Het
Tmem132d	T	C	5: 127,984,315	I408V	probably benign	Het
Tmem50a	T	C	4: 134,898,447	E153G	probably damaging	Het
Tmod4	A	G	3: 95,125,618	T22A	probably benign	Het
Tmprss7	C	T	16: 45,680,634	G268D	probably damaging	Het
Tor1a	A	G	2: 30,963,703		probably null	Het
Ttc29	T	C	8: 78,282,341	L280P	probably damaging	Het
Tusc5	G	A	11: 76,680,466	V103I	probably benign	Het
Usp20	A	G	2: 31,017,163	E594G	probably benign	Het
Vmn1r31	A	C	6: 58,472,724	M3R	possibly damaging	Het

Other mutations in Otud3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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

Posted On

2015-04-16