Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01353:Otud4'

75433

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

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

IGL01353

Quality Score

Status

Chromosome

Chromosomal Location

79639618-79677724 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79665021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 432 (S432G)

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
AA Change: S433G

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

SMART Domains

Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: S433G

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
AA Change: S432G

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

SMART Domains

Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: S432G

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,352,108	V1304E	possibly damaging	Het
Acr	T	C	15: 89,569,492	L78P	probably damaging	Het
Adamts12	T	C	15: 11,292,005		probably benign	Het
Adgrb2	T	C	4: 130,012,300	S872P	probably damaging	Het
Adhfe1	T	A	1: 9,566,863	N413K	probably benign	Het
Apoh	T	A	11: 108,397,385	C110S	probably damaging	Het
Arhgap11a	A	G	2: 113,833,524	F805L	probably damaging	Het
BC049730	G	T	7: 24,714,237	S226I	probably damaging	Het
Bin3	C	T	14: 70,134,826	L191F	possibly damaging	Het
Col3a1	A	G	1: 45,333,638		probably benign	Het
Dapp1	T	C	3: 137,961,480	K107R	probably benign	Het
Dnah5	T	C	15: 28,233,272	V259A	probably benign	Het
Dnah6	T	C	6: 73,173,456	M775V	probably benign	Het
Dnah9	A	G	11: 66,080,571	L1597P	probably damaging	Het
Elfn2	G	A	15: 78,672,418	A643V	possibly damaging	Het
Epha6	T	C	16: 60,424,895	T314A	probably damaging	Het
Fn1	C	A	1: 71,586,939	W2237L	probably damaging	Het
Foxp4	T	A	17: 47,888,153	D97V	probably damaging	Het
Kcnb2	C	A	1: 15,710,824	T640K	probably benign	Het
Miga2	G	A	2: 30,371,233		probably null	Het
Nacad	T	A	11: 6,600,530	Q887L	possibly damaging	Het
Olfr1058	A	T	2: 86,386,021	Y132*	probably null	Het
Olfr165	C	T	16: 19,407,583	M145I	probably benign	Het
Olfr464	T	C	11: 87,914,172	I245V	probably benign	Het
Olfr866	T	C	9: 20,027,047	N297S	probably damaging	Het
Otub2	A	T	12: 103,404,322	M288L	probably benign	Het
Pcca	G	A	14: 122,582,617	V58I	probably damaging	Het
Pdpr	T	A	8: 111,121,278		probably null	Het
Pinx1	C	A	14: 63,866,115	Q48K	probably benign	Het
Pkd1l2	G	T	8: 117,057,443	S698R	probably benign	Het
Psg29	A	G	7: 17,205,013	R71G	possibly damaging	Het
Psmd3	T	A	11: 98,690,600	V271E	probably benign	Het
Smarcc1	A	G	9: 110,135,666	N97S	probably benign	Het
Sulf2	C	T	2: 166,087,095	G319S	probably damaging	Het
Tmem67	C	A	4: 12,079,895	C132F	probably damaging	Het
Ttll7	T	C	3: 146,961,719	L780P	probably damaging	Het
Vmn1r223	A	G	13: 23,249,256	T7A	unknown	Het
Vmn1r76	T	G	7: 11,930,810	H159P	probably damaging	Het
Vnn1	G	A	10: 23,900,840	C363Y	probably damaging	Het
Wdr64	T	G	1: 175,731,585	L305V	probably damaging	Het
Zkscan4	T	C	13: 21,484,348	L323P	probably damaging	Het
Zscan10	A	T	17: 23,609,600	H295L	probably damaging	Het

Other mutations in Otud4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Otud4	APN	8	79672881	missense	probably damaging	0.99
IGL01371:Otud4	APN	8	79673761	missense	probably damaging	1.00
IGL01782:Otud4	APN	8	79673011	missense	possibly damaging	0.95
IGL01912:Otud4	APN	8	79673837	missense	probably benign
IGL02294:Otud4	APN	8	79664977	splice site	probably benign
IGL02830:Otud4	APN	8	79673301	missense	probably benign	0.00
IGL03063:Otud4	APN	8	79663790	missense	probably benign	0.01
IGL03077:Otud4	APN	8	79673458	missense	probably damaging	0.97
R0437:Otud4	UTSW	8	79669997	missense	probably benign	0.02
R1024:Otud4	UTSW	8	79664093	missense	probably benign	0.01
R1118:Otud4	UTSW	8	79653351	splice site	probably benign
R1296:Otud4	UTSW	8	79673974	missense	unknown
R1321:Otud4	UTSW	8	79669950	missense	probably benign	0.03
R1674:Otud4	UTSW	8	79673147	missense	probably benign	0.12
R1736:Otud4	UTSW	8	79651665	splice site	probably benign
R1815:Otud4	UTSW	8	79639989	nonsense	probably null
R1950:Otud4	UTSW	8	79646332	missense	probably damaging	0.99
R1985:Otud4	UTSW	8	79640012	missense	probably damaging	1.00
R2173:Otud4	UTSW	8	79668464	missense	probably damaging	1.00
R2869:Otud4	UTSW	8	79661073	missense	possibly damaging	0.82
R2869:Otud4	UTSW	8	79661073	missense	possibly damaging	0.82
R2870:Otud4	UTSW	8	79661073	missense	possibly damaging	0.82
R2870:Otud4	UTSW	8	79661073	missense	possibly damaging	0.82
R2872:Otud4	UTSW	8	79661073	missense	possibly damaging	0.82
R2872:Otud4	UTSW	8	79661073	missense	possibly damaging	0.82
R2907:Otud4	UTSW	8	79673068	missense	probably benign	0.02
R3545:Otud4	UTSW	8	79665055	missense	probably damaging	1.00
R4628:Otud4	UTSW	8	79639968	missense	possibly damaging	0.73
R4790:Otud4	UTSW	8	79666773	missense	possibly damaging	0.82
R4989:Otud4	UTSW	8	79655689	missense	probably damaging	1.00
R5133:Otud4	UTSW	8	79655689	missense	probably damaging	1.00
R5134:Otud4	UTSW	8	79655689	missense	probably damaging	1.00
R5294:Otud4	UTSW	8	79672892	missense	possibly damaging	0.54
R5410:Otud4	UTSW	8	79672997	missense	probably benign	0.04
R5454:Otud4	UTSW	8	79651042	missense	possibly damaging	0.94
R5579:Otud4	UTSW	8	79664108	missense	probably benign
R5738:Otud4	UTSW	8	79673461	missense	probably benign	0.02
R5886:Otud4	UTSW	8	79672807	missense	probably damaging	1.00
R6062:Otud4	UTSW	8	79673896	missense	probably damaging	1.00
R6364:Otud4	UTSW	8	79646341	missense	probably damaging	0.99
R6427:Otud4	UTSW	8	79668497	missense	probably benign	0.00
R6450:Otud4	UTSW	8	79672997	missense	probably benign	0.04
R6744:Otud4	UTSW	8	79673778	nonsense	probably null
R6773:Otud4	UTSW	8	79643806	missense	possibly damaging	0.95
R7046:Otud4	UTSW	8	79651042	missense	possibly damaging	0.94
R7142:Otud4	UTSW	8	79672762	splice site	probably null
R7420:Otud4	UTSW	8	79664108	missense	probably benign	0.11
R7470:Otud4	UTSW	8	79673360	missense	probably benign	0.00
R7670:Otud4	UTSW	8	79655864	splice site	probably null
R7736:Otud4	UTSW	8	79655765	missense	possibly damaging	0.53
R8229:Otud4	UTSW	8	79673975	missense	unknown
R8397:Otud4	UTSW	8	79669298	missense	probably benign	0.06
R8520:Otud4	UTSW	8	79659267	missense	probably damaging	1.00
R9041:Otud4	UTSW	8	79673812	missense	probably damaging	0.98
R9291:Otud4	UTSW	8	79646323	missense	probably damaging	1.00
R9495:Otud4	UTSW	8	79673458	missense	probably damaging	1.00
R9502:Otud4	UTSW	8	79673851	missense	probably benign	0.01
X0024:Otud4	UTSW	8	79646310	missense	probably benign	0.01
Z1176:Otud4	UTSW	8	79658929	missense	probably benign
Z1177:Otud4	UTSW	8	79643811	nonsense	probably null
Z1177:Otud4	UTSW	8	79643812	missense	probably damaging	0.99
Z1177:Otud4	UTSW	8	79665027	missense	possibly damaging	0.80

Posted On

2013-10-07