Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01371:Otud4'

76154

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 #

IGL01371

Quality Score

Status

Chromosome

Chromosomal Location

80366305-80404384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80400390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1034 (F1034L)

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 damaging
Transcript: ENSMUST00000173078
AA Change: F1035L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: F1035L

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 damaging
Transcript: ENSMUST00000173286
AA Change: F1034L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: F1034L

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,602,340 (GRCm39)	R691Q	probably benign	Het
Ambra1	G	T	2: 91,655,631 (GRCm39)	G700W	probably damaging	Het
Atp6v1c1	A	G	15: 38,683,204 (GRCm39)	I198V	probably benign	Het
Bptf	T	C	11: 106,946,733 (GRCm39)	N2353S	probably benign	Het
Cd84	A	T	1: 171,713,937 (GRCm39)	T312S	probably benign	Het
Chl1	G	T	6: 103,692,325 (GRCm39)	C1064F	probably damaging	Het
Clca4a	T	C	3: 144,666,433 (GRCm39)	D473G	probably damaging	Het
Dsp	A	G	13: 38,377,593 (GRCm39)	R1793G	probably benign	Het
Dync1h1	A	G	12: 110,605,285 (GRCm39)	N2374S	probably benign	Het
Ecpas	A	G	4: 58,809,718 (GRCm39)	L1583P	probably damaging	Het
Gm43191	A	T	3: 116,439,112 (GRCm39)	I130N	probably damaging	Het
Gm5134	T	G	10: 75,840,581 (GRCm39)	L475R	probably damaging	Het
Grm1	A	G	10: 10,595,783 (GRCm39)	V615A	probably benign	Het
Inhca	T	C	9: 103,131,975 (GRCm39)	E504G	possibly damaging	Het
Loxl1	T	A	9: 58,201,705 (GRCm39)	Q462L	possibly damaging	Het
Nwd1	T	C	8: 73,401,743 (GRCm39)	W755R	probably damaging	Het
Or10j27	A	G	1: 172,958,098 (GRCm39)	S229P	possibly damaging	Het
Or5b106	G	A	19: 13,123,192 (GRCm39)	T277I	possibly damaging	Het
Or5t17	A	T	2: 86,833,267 (GRCm39)	K318M	probably benign	Het
Pakap	C	A	4: 57,856,325 (GRCm39)	D551E	probably benign	Het
Panx3	T	G	9: 37,572,771 (GRCm39)	T260P	probably benign	Het
Ppfia4	A	T	1: 134,255,824 (GRCm39)	S194T	probably benign	Het
Rnf135	T	A	11: 80,080,081 (GRCm39)	I124N	probably benign	Het
Rpf1	T	C	3: 146,213,302 (GRCm39)	N283S	probably damaging	Het
Smg5	A	G	3: 88,266,951 (GRCm39)		probably benign	Het
Stard9	A	G	2: 120,531,849 (GRCm39)	E2702G	probably benign	Het
Tbk1	A	T	10: 121,395,776 (GRCm39)	M439K	probably benign	Het
Tmem235	T	C	11: 117,753,132 (GRCm39)	L85P	possibly damaging	Het
Trhde	A	T	10: 114,424,405 (GRCm39)	V460E	possibly damaging	Het
Ttn	T	C	2: 76,620,608 (GRCm39)		probably benign	Het
Vmn1r83	A	G	7: 12,055,160 (GRCm39)	F299S	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
IGL01782:Otud4	APN	8	80,399,640 (GRCm39)	missense	possibly damaging	0.95
IGL01912:Otud4	APN	8	80,400,466 (GRCm39)	missense	probably benign
IGL02294:Otud4	APN	8	80,391,606 (GRCm39)	splice site	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

2013-10-07