Mutagenetix > Incidental Mutation

Incidental Mutation 'R5070:Oit3'

388666

Institutional Source

Beutler Lab

Gene Symbol

Oit3

Ensembl Gene

ENSMUSG00000009654

Gene Name

oncoprotein induced transcript 3

Synonyms

EF-9

MMRRC Submission

042660-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.382) question?

Stock #

R5070 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

59422958-59441778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59424027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 518 (R518H)

Ref Sequence

ENSEMBL: ENSMUSP00000009798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009790] [ENSMUST00000009798] [ENSMUST00000162643]

AlphaFold

Q8R4V5

Predicted Effect

probably benign
Transcript: ENSMUST00000009790

SMART Domains

Protein: ENSMUSP00000009790
Gene: ENSMUSG00000009646

Domain	Start	End	E-Value	Type
Pfam:PLA2G12	12	195	1.5e-89	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000009798
AA Change: R518H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: R518H

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Blast:ZP	50	144	9e-24	BLAST
EGF	150	181	2.16e1	SMART
EGF	185	222	2.94e-3	SMART
EGF	226	263	2.35e-2	SMART
ZP	267	516	2.74e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162493

Predicted Effect

probably benign
Transcript: ENSMUST00000162643

SMART Domains

Protein: ENSMUSP00000123842
Gene: ENSMUSG00000009646

Domain	Start	End	E-Value	Type
Pfam:PLA2G12	1	77	1.7e-36	PFAM
low complexity region	90	101	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified due to its downregulation in hepatocarcinomas. The encoded protein may be involved in liver development and function. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased bloord uric acid, increased urine uric acid and polyuria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	G	T	15: 84,420,163	A14E	possibly damaging	Het
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
Acacb	T	C	5: 114,246,028	I2206T	possibly damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
AI987944	C	T	7: 41,375,324	G77D	probably benign	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
Bend3	A	T	10: 43,493,685	E11D	probably damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Cds2	T	A	2: 132,302,088	Y4*	probably null	Het
Celsr1	G	T	15: 85,939,134	P1691Q	possibly damaging	Het
Chmp1a	A	T	8: 123,206,315	V133E	probably benign	Het
Cnbd2	T	C	2: 156,335,398	V92A	probably damaging	Het
Comp	G	A	8: 70,376,495	G272S	probably benign	Het
Csnk1a1	T	A	18: 61,555,781	F11I	probably benign	Het
Ctse	A	G	1: 131,668,179	D203G	probably damaging	Het
Cyp1b1	T	A	17: 79,710,611	M372L	probably benign	Het
Cyp2c66	T	A	19: 39,163,470	S210T	probably benign	Het
Dnah1	G	A	14: 31,282,418	P2385S	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Eif4g3	A	G	4: 138,146,299	T682A	probably benign	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Fam136b-ps	C	T	15: 31,276,716		probably benign	Het
Fbxl7	T	A	15: 26,789,554	H29L	probably benign	Het
Fbxw22	A	G	9: 109,385,115	V211A	probably benign	Het
Frk	A	T	10: 34,484,284	K94*	probably null	Het
G0s2	T	A	1: 193,272,562	E71D	probably damaging	Het
Gfpt1	A	G	6: 87,053,745		probably null	Het
Gga1	A	G	15: 78,892,017	D420G	possibly damaging	Het
Gldc	T	C	19: 30,118,598	Q671R	possibly damaging	Het
Gpc6	A	G	14: 117,186,769	T90A	probably benign	Het
Gucy2g	C	A	19: 55,229,787	V410F	probably damaging	Het
Ifnlr1	T	C	4: 135,704,198	S233P	probably benign	Het
Ighv1-9	A	T	12: 114,583,757	W55R	probably damaging	Het
Igsf10	T	A	3: 59,328,293	H1489L	probably benign	Het
Il17re	T	C	6: 113,459,010	L39P	probably damaging	Het
Kcna2	T	A	3: 107,104,637	V178D	probably damaging	Het
Kcnk3	A	G	5: 30,622,386	H260R	possibly damaging	Het
Kctd19	T	C	8: 105,391,999	Y287C	probably damaging	Het
Klhl28	A	T	12: 64,957,712	M9K	probably benign	Het
Lama2	A	G	10: 27,350,251		probably null	Het
Lrrc27	A	T	7: 139,214,799	D26V	probably damaging	Het
Mcm4	A	G	16: 15,625,570	S830P	probably damaging	Het
Mei1	T	A	15: 82,077,603	C188S	possibly damaging	Het
Mettl13	C	T	1: 162,545,899	R261H	possibly damaging	Het
Mex3a	A	T	3: 88,536,387	I257F	probably damaging	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mier2	T	C	10: 79,549,577	D139G	probably benign	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Mrvi1	A	G	7: 110,925,312	S208P	probably benign	Het
Myh14	A	G	7: 44,616,248	V1569A	possibly damaging	Het
Myo18b	T	C	5: 112,761,346	E1977G	probably damaging	Het
Myo3b	T	C	2: 70,253,112	L675P	probably damaging	Het
N4bp1	A	G	8: 86,860,537	V591A	probably damaging	Het
Nedd9	C	A	13: 41,316,598	V360L	probably benign	Het
Olfr1122	T	G	2: 87,388,163	C153G	probably damaging	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr171	A	G	16: 19,624,992	I36T	possibly damaging	Het
Olfr342	T	A	2: 36,527,766	M118K	probably damaging	Het
Olfr531	A	G	7: 140,400,569	V159A	probably benign	Het
Olfr744	A	G	14: 50,618,474	N84S	probably benign	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pask	A	T	1: 93,330,874	C251S	probably damaging	Het
Pdzk1	A	T	3: 96,850,321	D31V	probably benign	Het
Pmfbp1	A	T	8: 109,530,155	Q497L	probably damaging	Het
Pofut1	T	C	2: 153,261,566		probably benign	Het
Polr2h	A	G	16: 20,721,966	N95S	probably damaging	Het
Pou2f3	A	G	9: 43,145,281	V93A	possibly damaging	Het
Ppfia1	G	A	7: 144,514,473	Q446*	probably null	Het
Prkd1	A	T	12: 50,394,622	L327*	probably null	Het
Prrt4	T	C	6: 29,177,512	E86G	probably benign	Het
Psen2	T	C	1: 180,228,857	I393V	probably benign	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Qser1	C	T	2: 104,787,282	V1062I	possibly damaging	Het
Rab11b	G	T	17: 33,748,881	A114D	probably damaging	Het
Rag1	A	T	2: 101,642,311	W829R	probably damaging	Het
Rgl3	A	G	9: 21,988,044		probably null	Het
Rgs8	C	T	1: 153,665,904	T3I	probably damaging	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rps6kb2	A	T	19: 4,163,228	D6E	probably damaging	Het
Skint5	T	A	4: 113,795,538	I630F	unknown	Het
Skint7	T	C	4: 111,984,134	L257P	probably damaging	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Sorl1	T	C	9: 42,031,818	K921E	possibly damaging	Het
Stub1	A	G	17: 25,832,138	L90P	probably damaging	Het
Sycp1	A	T	3: 102,920,565	S289T	probably damaging	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Tead3	T	C	17: 28,341,477	K51R	probably benign	Het
Tmed11	T	A	5: 108,795,223	I30L	probably benign	Het
Tmem131	A	G	1: 36,854,905	I139T	probably damaging	Het
Tmem191c	A	G	16: 17,277,695	Q206R	probably null	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Tsc22d1	T	C	14: 76,418,310	I661T	probably benign	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Uqcrq	A	G	11: 53,430,127		probably null	Het
Vmn1r215	T	A	13: 23,076,496	S235R	probably benign	Het
Vmn1r70	T	C	7: 10,634,398	V271A	probably benign	Het
Vps13a	G	A	19: 16,654,484	R2596C	probably benign	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wdr90	T	C	17: 25,846,333	T1650A	probably damaging	Het
Zbtb32	T	A	7: 30,591,466	M135L	probably benign	Het
Zc2hc1c	A	G	12: 85,290,514	D315G	probably benign	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	Het
Zfp30	A	G	7: 29,786,266		probably benign	Het
Zfp428	T	A	7: 24,515,125	D55E	probably damaging	Het
Zfyve26	A	T	12: 79,255,361	N1820K	probably damaging	Het
Zw10	C	A	9: 49,077,459	S675*	probably null	Het

Other mutations in Oit3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Oit3	APN	10	59425484	unclassified	probably benign
IGL01665:Oit3	APN	10	59438909	missense	probably damaging	1.00
IGL01839:Oit3	APN	10	59429496	missense	probably damaging	0.98
IGL02028:Oit3	APN	10	59438655	missense	probably damaging	0.98
PIT4585001:Oit3	UTSW	10	59431013	missense	possibly damaging	0.54
R0567:Oit3	UTSW	10	59435978	missense	probably damaging	0.99
R0781:Oit3	UTSW	10	59428194	missense	probably damaging	1.00
R1110:Oit3	UTSW	10	59428194	missense	probably damaging	1.00
R1563:Oit3	UTSW	10	59428074	missense	probably damaging	1.00
R1623:Oit3	UTSW	10	59428239	missense	probably damaging	0.99
R1693:Oit3	UTSW	10	59425417	missense	probably damaging	1.00
R1754:Oit3	UTSW	10	59427940	splice site	probably null
R1853:Oit3	UTSW	10	59441622	critical splice donor site	probably null
R2070:Oit3	UTSW	10	59431013	missense	probably benign	0.03
R2211:Oit3	UTSW	10	59428070	missense	probably damaging	1.00
R2516:Oit3	UTSW	10	59428345	missense	probably damaging	1.00
R2516:Oit3	UTSW	10	59441685	start gained	probably benign
R3103:Oit3	UTSW	10	59438891	missense	probably damaging	0.98
R4414:Oit3	UTSW	10	59428103	missense	probably damaging	1.00
R4415:Oit3	UTSW	10	59428103	missense	probably damaging	1.00
R4416:Oit3	UTSW	10	59428103	missense	probably damaging	1.00
R4417:Oit3	UTSW	10	59428103	missense	probably damaging	1.00
R4584:Oit3	UTSW	10	59425462	missense	probably damaging	1.00
R4734:Oit3	UTSW	10	59424082	missense	probably damaging	0.99
R4748:Oit3	UTSW	10	59424082	missense	probably damaging	0.99
R4749:Oit3	UTSW	10	59424082	missense	probably damaging	0.99
R5521:Oit3	UTSW	10	59435914	missense	probably benign
R6326:Oit3	UTSW	10	59428239	missense	probably damaging	1.00
R6490:Oit3	UTSW	10	59438552	missense	possibly damaging	0.92
R6526:Oit3	UTSW	10	59429640	missense	probably damaging	1.00
R6766:Oit3	UTSW	10	59438712	missense	probably damaging	0.99
R6921:Oit3	UTSW	10	59435945	missense	probably damaging	0.99
R7129:Oit3	UTSW	10	59428344	missense	probably damaging	0.99
R7440:Oit3	UTSW	10	59429570	missense	probably damaging	0.99
R7495:Oit3	UTSW	10	59423943	missense	possibly damaging	0.74
R7512:Oit3	UTSW	10	59438894	missense	probably damaging	1.00
R7866:Oit3	UTSW	10	59424030	missense	probably benign	0.03
R8312:Oit3	UTSW	10	59438810	missense	probably benign	0.01
R8321:Oit3	UTSW	10	59428160	missense	probably benign	0.00
R8919:Oit3	UTSW	10	59441646	missense	unknown
R9131:Oit3	UTSW	10	59435929	missense	probably benign	0.01
R9457:Oit3	UTSW	10	59441683	start codon destroyed	unknown
R9478:Oit3	UTSW	10	59438642	missense	probably damaging	0.99
R9502:Oit3	UTSW	10	59428351	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCAGCCAGTCCTTTCATG -3'
(R):5'- CCTCTAGTTGGGGCTTGTGAAC -3'

Sequencing Primer
(F):5'- TTAAAGAAGCCAGCTGTCTTAGG -3'
(R):5'- GGCTTGTGAACTGAGAGGTAC -3'

Posted On

2016-06-06