Mutagenetix > Incidental Mutation

Incidental Mutation 'R1985:Otud4'

220478

Institutional Source

Beutler Lab

Gene Symbol

Otud4

Ensembl Gene

ENSMUSG00000036990

Gene Name

OTU domain containing 4

Synonyms

4930431L18Rik, D8Ertd69e

MMRRC Submission

039997-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R1985 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80366305-80404384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 80366641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 36 (R36P)

Ref Sequence

ENSEMBL: ENSMUSP00000133939 (fasta)

Gene Model

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

AlphaFold

B2RRE7

Predicted Effect

probably damaging
Transcript: ENSMUST00000173078
AA Change: R36P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: R36P

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: R36P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: R36P

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

Meta Mutation Damage Score

0.1950

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (76/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	C	A	8: 71,916,157 (GRCm39)		probably benign	Het
Adam5	A	T	8: 25,236,755 (GRCm39)	D648E	probably benign	Het
Akr1d1	A	G	6: 37,535,336 (GRCm39)	D240G	probably damaging	Het
Ankmy2	A	G	12: 36,207,363 (GRCm39)	H3R	possibly damaging	Het
Anpep	A	C	7: 79,490,605 (GRCm39)		probably null	Het
Apobr	A	G	7: 126,186,903 (GRCm39)	T20A	possibly damaging	Het
Atp2a2	A	T	5: 122,604,899 (GRCm39)	Y427N	probably benign	Het
Camkk2	A	C	5: 122,902,190 (GRCm39)	S40A	possibly damaging	Het
Camp	T	C	9: 109,677,497 (GRCm39)	N112S	probably benign	Het
Cbx7	A	G	15: 79,802,591 (GRCm39)	S229P	probably damaging	Het
Cnot2	T	C	10: 116,363,781 (GRCm39)	N41S	probably damaging	Het
Dchs1	A	G	7: 105,421,605 (GRCm39)	F272L	possibly damaging	Het
Dct	T	C	14: 118,273,954 (GRCm39)	K318E	probably benign	Het
Dhrs11	A	C	11: 84,719,633 (GRCm39)	L31V	probably damaging	Het
Dnah7a	T	C	1: 53,543,093 (GRCm39)	D2359G	probably benign	Het
Dnajc7	A	G	11: 100,481,718 (GRCm39)	S305P	probably benign	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Flnc	A	G	6: 29,444,415 (GRCm39)		probably benign	Het
Garin3	T	C	11: 46,298,693 (GRCm39)	*666Q	probably null	Het
Gm7535	A	G	17: 18,131,800 (GRCm39)		probably benign	Het
Grtp1	A	G	8: 13,229,376 (GRCm39)	F313L	probably damaging	Het
Haus6	T	C	4: 86,511,846 (GRCm39)	Y425C	possibly damaging	Het
Hdac1	T	A	4: 129,422,753 (GRCm39)	N83Y	possibly damaging	Het
Hdlbp	A	G	1: 93,358,840 (GRCm39)	I237T	probably damaging	Het
Hfm1	A	T	5: 107,046,442 (GRCm39)	D481E	probably damaging	Het
Hipk3	T	C	2: 104,264,780 (GRCm39)	I737V	probably benign	Het
Il23r	T	A	6: 67,467,652 (GRCm39)		probably null	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Ints3	C	T	3: 90,307,610 (GRCm39)		probably null	Het
Kcna6	T	C	6: 126,715,473 (GRCm39)	E472G	probably benign	Het
Kcnj16	C	T	11: 110,916,409 (GRCm39)	T357M	probably benign	Het
Kdm4b	T	A	17: 56,708,302 (GRCm39)	V957E	probably damaging	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Klhl11	G	T	11: 100,354,070 (GRCm39)	Q584K	probably benign	Het
Krt9	A	T	11: 100,080,817 (GRCm39)	M345K	probably benign	Het
Lgr5	T	C	10: 115,331,150 (GRCm39)		probably benign	Het
Lilrb4b	A	T	10: 51,357,831 (GRCm39)	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Ly9	A	G	1: 171,427,341 (GRCm39)	S405P	probably damaging	Het
Myh2	A	G	11: 67,071,740 (GRCm39)	D519G	possibly damaging	Het
Nav3	G	A	10: 109,606,045 (GRCm39)		probably benign	Het
Nfkb1	G	A	3: 135,321,110 (GRCm39)	T215I	possibly damaging	Het
Ninj2	A	T	6: 120,175,600 (GRCm39)		probably benign	Het
Obsl1	A	G	1: 75,482,244 (GRCm39)	C209R	probably damaging	Het
Or13a25	G	A	7: 140,247,734 (GRCm39)	C171Y	probably damaging	Het
Or2d4	A	G	7: 106,544,133 (GRCm39)	I25T	probably benign	Het
Or2j6	A	T	7: 139,980,713 (GRCm39)	M82K	possibly damaging	Het
Or2t44	A	C	11: 58,677,210 (GRCm39)	D50A	probably damaging	Het
Or2y1g	T	C	11: 49,171,110 (GRCm39)	I45T	probably damaging	Het
Or52z14	A	T	7: 103,252,879 (GRCm39)	Y6F	probably benign	Het
Pcnt	C	T	10: 76,216,171 (GRCm39)	R2239H	possibly damaging	Het
Pgbd5	T	A	8: 125,097,331 (GRCm39)	M491L	probably benign	Het
Pitrm1	A	T	13: 6,608,220 (GRCm39)	D316V	probably damaging	Het
Plod3	A	G	5: 137,019,707 (GRCm39)		probably null	Het
Plppr3	A	T	10: 79,703,294 (GRCm39)	Y63*	probably null	Het
Pramel52-ps	A	T	5: 94,531,931 (GRCm39)	I272L	probably benign	Het
Prickle2	T	C	6: 92,388,433 (GRCm39)	D323G	probably damaging	Het
Psmd11	A	T	11: 80,336,089 (GRCm39)	I114F	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rbp3	T	G	14: 33,678,418 (GRCm39)	S789A	probably benign	Het
Rfxap	C	A	3: 54,714,747 (GRCm39)	R117L	probably damaging	Het
Rims2	T	A	15: 39,208,710 (GRCm39)	M171K	probably damaging	Het
Scin	A	G	12: 40,183,907 (GRCm39)		probably null	Het
Scn11a	A	G	9: 119,583,744 (GRCm39)	S1624P	probably benign	Het
Slc41a3	G	A	6: 90,619,210 (GRCm39)	V330M	probably damaging	Het
Slc9c1	A	G	16: 45,370,469 (GRCm39)	I237V	probably benign	Het
Spag6	A	G	2: 18,736,930 (GRCm39)	I218V	probably benign	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Tbc1d24	G	A	17: 24,426,938 (GRCm39)	R318*	probably null	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Trpm3	T	A	19: 22,903,446 (GRCm39)	Y1069N	possibly damaging	Het
Tuba8	A	G	6: 121,197,479 (GRCm39)	D47G	probably benign	Het
Tulp3	A	T	6: 128,303,769 (GRCm39)	S277T	probably benign	Het
Uqcc6	T	A	10: 82,456,051 (GRCm39)	T37S	possibly damaging	Het
Wdr7	GTT	GT	18: 63,893,654 (GRCm39)		probably null	Het
Ybx2	A	G	11: 69,827,294 (GRCm39)		probably null	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp788	T	A	7: 41,299,905 (GRCm39)	I795N	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AATTCTAGGCTGCGAGGTTG -3'
(R):5'- TTACAATGGGCCGCTGTGAC -3'

Sequencing Primer
(F):5'- TCGAGACCCGGAAACTTGTG -3'
(R):5'- TGTGACGACAGCGAGCCAC -3'

Posted On

2014-08-25