Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02294:Otud4'

290150

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Otud4

Ensembl Gene

ENSMUSG00000036990

Gene Name

OTU domain containing 4

Synonyms

4930431L18Rik, D8Ertd69e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

IGL02294

Quality Score

Status

Chromosome

Chromosomal Location

80366305-80404384 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 80391606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173078] [ENSMUST00000173286]

AlphaFold

B2RRE7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172614

Predicted Effect

probably benign
Transcript: ENSMUST00000173078

SMART Domains

Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990

Domain	Start	End	E-Value	Type
Pfam:OTU	40	154	3.4e-17	PFAM
low complexity region	189	213	N/A	INTRINSIC
Blast:TUDOR	280	335	2e-7	BLAST
low complexity region	392	405	N/A	INTRINSIC
low complexity region	473	486	N/A	INTRINSIC
low complexity region	543	555	N/A	INTRINSIC
low complexity region	1014	1025	N/A	INTRINSIC
low complexity region	1082	1104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173286

SMART Domains

Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990

Domain	Start	End	E-Value	Type
Pfam:OTU	40	149	5.3e-21	PFAM
low complexity region	189	213	N/A	INTRINSIC
Blast:TUDOR	280	334	9e-9	BLAST
low complexity region	391	404	N/A	INTRINSIC
low complexity region	472	485	N/A	INTRINSIC
low complexity region	542	554	N/A	INTRINSIC
low complexity region	1013	1024	N/A	INTRINSIC
low complexity region	1081	1103	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174485

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	G	18: 65,439,146 (GRCm39)	V749A	possibly damaging	Het
Col6a4	T	C	9: 105,943,931 (GRCm39)	D1181G	probably benign	Het
Crb1	A	G	1: 139,162,520 (GRCm39)	S1213P	possibly damaging	Het
D430041D05Rik	A	T	2: 104,085,351 (GRCm39)	M1066K	probably benign	Het
Fasn	G	T	11: 120,701,102 (GRCm39)	T1999N	probably damaging	Het
Flg2	C	T	3: 93,111,053 (GRCm39)	A1027V	unknown	Het
Gbp5	T	A	3: 142,209,588 (GRCm39)	V178E	probably damaging	Het
Hdac4	T	C	1: 91,909,929 (GRCm39)	D445G	probably benign	Het
Hps3	T	C	3: 20,068,212 (GRCm39)	E482G	probably damaging	Het
Impdh1	G	A	6: 29,205,201 (GRCm39)	A200V	probably benign	Het
Kdm2b	T	C	5: 123,099,537 (GRCm39)	Y134C	probably damaging	Het
Ly6g	T	A	15: 75,030,413 (GRCm39)	I77N	possibly damaging	Het
Oprk1	T	G	1: 5,672,610 (GRCm39)	M249R	probably damaging	Het
Or5ac21	T	C	16: 59,123,975 (GRCm39)	L153P	probably damaging	Het
Or5h17	T	C	16: 58,820,428 (GRCm39)	C127R	probably damaging	Het
Slc16a4	T	C	3: 107,208,384 (GRCm39)	I298T	probably benign	Het
Sox21	A	G	14: 118,472,950 (GRCm39)	M33T	probably benign	Het
Speer4a1	T	A	5: 26,243,240 (GRCm39)	T82S	probably benign	Het
Stard13	T	C	5: 150,986,580 (GRCm39)	D310G	probably benign	Het
Trpm6	C	A	19: 18,831,427 (GRCm39)	Q1431K	probably benign	Het
Ufl1	T	A	4: 25,259,281 (GRCm39)	K446*	probably null	Het
Vmn2r19	A	G	6: 123,306,937 (GRCm39)	T482A	probably benign	Het

Other mutations in Otud4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Otud4	APN	8	80,399,510 (GRCm39)	missense	probably damaging	0.99
IGL01353:Otud4	APN	8	80,391,650 (GRCm39)	missense	probably benign
IGL01371:Otud4	APN	8	80,400,390 (GRCm39)	missense	probably damaging	1.00
IGL01782:Otud4	APN	8	80,399,640 (GRCm39)	missense	possibly damaging	0.95
IGL01912:Otud4	APN	8	80,400,466 (GRCm39)	missense	probably benign
IGL02830:Otud4	APN	8	80,399,930 (GRCm39)	missense	probably benign	0.00
IGL03063:Otud4	APN	8	80,390,419 (GRCm39)	missense	probably benign	0.01
IGL03077:Otud4	APN	8	80,400,087 (GRCm39)	missense	probably damaging	0.97
R0437:Otud4	UTSW	8	80,396,626 (GRCm39)	missense	probably benign	0.02
R1024:Otud4	UTSW	8	80,390,722 (GRCm39)	missense	probably benign	0.01
R1118:Otud4	UTSW	8	80,379,980 (GRCm39)	splice site	probably benign
R1296:Otud4	UTSW	8	80,400,603 (GRCm39)	missense	unknown
R1321:Otud4	UTSW	8	80,396,579 (GRCm39)	missense	probably benign	0.03
R1674:Otud4	UTSW	8	80,399,776 (GRCm39)	missense	probably benign	0.12
R1736:Otud4	UTSW	8	80,378,294 (GRCm39)	splice site	probably benign
R1815:Otud4	UTSW	8	80,366,618 (GRCm39)	nonsense	probably null
R1950:Otud4	UTSW	8	80,372,961 (GRCm39)	missense	probably damaging	0.99
R1985:Otud4	UTSW	8	80,366,641 (GRCm39)	missense	probably damaging	1.00
R2173:Otud4	UTSW	8	80,395,093 (GRCm39)	missense	probably damaging	1.00
R2869:Otud4	UTSW	8	80,387,702 (GRCm39)	missense	possibly damaging	0.82
R2869:Otud4	UTSW	8	80,387,702 (GRCm39)	missense	possibly damaging	0.82
R2870:Otud4	UTSW	8	80,387,702 (GRCm39)	missense	possibly damaging	0.82
R2870:Otud4	UTSW	8	80,387,702 (GRCm39)	missense	possibly damaging	0.82
R2872:Otud4	UTSW	8	80,387,702 (GRCm39)	missense	possibly damaging	0.82
R2872:Otud4	UTSW	8	80,387,702 (GRCm39)	missense	possibly damaging	0.82
R2907:Otud4	UTSW	8	80,399,697 (GRCm39)	missense	probably benign	0.02
R3545:Otud4	UTSW	8	80,391,684 (GRCm39)	missense	probably damaging	1.00
R4628:Otud4	UTSW	8	80,366,597 (GRCm39)	missense	possibly damaging	0.73
R4790:Otud4	UTSW	8	80,393,402 (GRCm39)	missense	possibly damaging	0.82
R4989:Otud4	UTSW	8	80,382,318 (GRCm39)	missense	probably damaging	1.00
R5133:Otud4	UTSW	8	80,382,318 (GRCm39)	missense	probably damaging	1.00
R5134:Otud4	UTSW	8	80,382,318 (GRCm39)	missense	probably damaging	1.00
R5294:Otud4	UTSW	8	80,399,521 (GRCm39)	missense	possibly damaging	0.54
R5410:Otud4	UTSW	8	80,399,626 (GRCm39)	missense	probably benign	0.04
R5454:Otud4	UTSW	8	80,377,671 (GRCm39)	missense	possibly damaging	0.94
R5579:Otud4	UTSW	8	80,390,737 (GRCm39)	missense	probably benign
R5738:Otud4	UTSW	8	80,400,090 (GRCm39)	missense	probably benign	0.02
R5886:Otud4	UTSW	8	80,399,436 (GRCm39)	missense	probably damaging	1.00
R6062:Otud4	UTSW	8	80,400,525 (GRCm39)	missense	probably damaging	1.00
R6364:Otud4	UTSW	8	80,372,970 (GRCm39)	missense	probably damaging	0.99
R6427:Otud4	UTSW	8	80,395,126 (GRCm39)	missense	probably benign	0.00
R6450:Otud4	UTSW	8	80,399,626 (GRCm39)	missense	probably benign	0.04
R6744:Otud4	UTSW	8	80,400,407 (GRCm39)	nonsense	probably null
R6773:Otud4	UTSW	8	80,370,435 (GRCm39)	missense	possibly damaging	0.95
R7046:Otud4	UTSW	8	80,377,671 (GRCm39)	missense	possibly damaging	0.94
R7142:Otud4	UTSW	8	80,399,391 (GRCm39)	splice site	probably null
R7420:Otud4	UTSW	8	80,390,737 (GRCm39)	missense	probably benign	0.11
R7470:Otud4	UTSW	8	80,399,989 (GRCm39)	missense	probably benign	0.00
R7670:Otud4	UTSW	8	80,382,493 (GRCm39)	splice site	probably null
R7736:Otud4	UTSW	8	80,382,394 (GRCm39)	missense	possibly damaging	0.53
R8229:Otud4	UTSW	8	80,400,604 (GRCm39)	missense	unknown
R8397:Otud4	UTSW	8	80,395,927 (GRCm39)	missense	probably benign	0.06
R8520:Otud4	UTSW	8	80,385,896 (GRCm39)	missense	probably damaging	1.00
R9041:Otud4	UTSW	8	80,400,441 (GRCm39)	missense	probably damaging	0.98
R9291:Otud4	UTSW	8	80,372,952 (GRCm39)	missense	probably damaging	1.00
R9495:Otud4	UTSW	8	80,400,087 (GRCm39)	missense	probably damaging	1.00
R9502:Otud4	UTSW	8	80,400,480 (GRCm39)	missense	probably benign	0.01
X0024:Otud4	UTSW	8	80,372,939 (GRCm39)	missense	probably benign	0.01
Z1176:Otud4	UTSW	8	80,385,558 (GRCm39)	missense	probably benign
Z1177:Otud4	UTSW	8	80,370,441 (GRCm39)	missense	probably damaging	0.99
Z1177:Otud4	UTSW	8	80,370,440 (GRCm39)	nonsense	probably null
Z1177:Otud4	UTSW	8	80,391,656 (GRCm39)	missense	possibly damaging	0.80

Posted On

2015-04-16