Mutagenetix > Incidental Mutation

Incidental Mutation 'R9131:Oit3'

693653

Institutional Source

Beutler Lab

Gene Symbol

Oit3

Ensembl Gene

ENSMUSG00000009654

Gene Name

oncoprotein induced transcript 3

Synonyms

EF-9

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59422958-59441778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59435929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 202 (N202S)

Ref Sequence

ENSEMBL: ENSMUSP00000009798 (fasta)

Gene Model

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

AlphaFold

Q8R4V5

Predicted Effect

probably benign
Transcript: ENSMUST00000009798
AA Change: N202S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: N202S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,332,508	Y148F	possibly damaging	Het
Adamtsl3	A	G	7: 82,595,514	T1393A	probably benign	Het
Adgrf4	G	T	17: 42,667,367	Q362K	probably benign	Het
Akr1d1	A	G	6: 37,554,516	K163R	probably benign	Het
Arhgap42	A	G	9: 9,011,363	L474P	probably damaging	Het
Arhgef18	G	A	8: 3,437,007	R242Q	possibly damaging	Het
Asah1	A	G	8: 41,354,012		probably null	Het
Atm	A	T	9: 53,533,744	I34N	probably benign	Het
Brms1l	A	G	12: 55,860,128	E160G	possibly damaging	Het
Camk2a	C	T	18: 60,943,255	H102Y	unknown	Het
Cd300lb	A	G	11: 114,928,308	V165A	probably damaging	Het
Cela1	G	A	15: 100,681,157	R207C	probably benign	Het
Chd7	T	C	4: 8,785,642	S649P		Het
Clic3	A	G	2: 25,458,313	Q130R	probably benign	Het
Clns1a	G	A	7: 97,713,918	G166R	probably damaging	Het
Cngb1	A	T	8: 95,253,265	H1002Q	probably benign	Het
Cnnm1	C	A	19: 43,441,400	A319E	probably benign	Het
Cntnap5b	C	T	1: 100,050,643	T128I	probably benign	Het
Csf3r	G	A	4: 126,030,020	D108N	probably benign	Het
Ctsc	G	A	7: 88,309,808	W432*	probably null	Het
Dapk1	G	A	13: 60,761,394	G1274R	probably damaging	Het
Dennd2c	C	A	3: 103,157,715	P718Q	probably damaging	Het
Dmxl1	C	G	18: 49,939,572	N2744K	probably damaging	Het
Dnah7b	C	T	1: 46,227,020	R2250C	probably damaging	Het
Dnmt3a	A	T	12: 3,866,136	Q107L	probably benign	Het
Eml2	A	G	7: 19,184,826	D67G		Het
Eml5	A	T	12: 98,858,840	V706E	probably damaging	Het
Eps8l1	A	G	7: 4,477,574	D509G		Het
Farsb	T	C	1: 78,483,314	K43E	probably benign	Het
Fbxw20	A	G	9: 109,223,446	F273S	probably damaging	Het
Fig4	A	T	10: 41,265,411	F284Y	possibly damaging	Het
Fsd1l	C	A	4: 53,694,756	N403K	probably damaging	Het
Fsip2	A	T	2: 82,982,826	H3163L	probably benign	Het
Gm38119	C	A	3: 92,738,096	G64*	probably null	Het
Gpr18	A	G	14: 121,911,761	V284A	probably benign	Het
Hacd3	A	G	9: 65,001,004	V170A	probably damaging	Het
Hps3	T	C	3: 20,029,186	E281G	probably damaging	Het
Ick	A	T	9: 78,166,948	S551C	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,926	V10G	probably benign	Het
Lrp1b	G	A	2: 40,699,578	R3862*	probably null	Het
Ltbp4	A	G	7: 27,337,551	L6P	unknown	Het
Ly6h	T	A	15: 75,565,673	T53S	probably damaging	Het
Ly6i	A	G	15: 74,983,157		probably benign	Het
Mat2a	G	A	6: 72,436,244	R168C	probably damaging	Het
Mdn1	T	A	4: 32,762,275	D5066E	possibly damaging	Het
Med23	T	A	10: 24,904,381	F976I		Het
Muc5ac	T	C	7: 141,809,792	I2280T	unknown	Het
Mylk	G	T	16: 34,956,465	C1336F	probably benign	Het
Myo9a	G	C	9: 59,861,489	R918P	probably damaging	Het
Naglu	T	A	11: 101,076,905	D560E	probably damaging	Het
Nrg2	C	T	18: 36,024,343	V430M	probably damaging	Het
Olfr1453	T	A	19: 13,027,996	Y111F	probably benign	Het
Olfr211	A	G	6: 116,493,920	T104A	probably benign	Het
Olfr389	A	T	11: 73,777,324	M1K	probably null	Het
Olfr569	T	C	7: 102,887,979	H58R	probably benign	Het
Olfr766-ps1	C	A	10: 129,063,228	V260F	probably damaging	Het
Otog	T	A	7: 46,303,173	C423*	probably null	Het
Pcolce	T	A	5: 137,605,508	T401S	probably benign	Het
Pcsk2	T	C	2: 143,813,663	M589T	possibly damaging	Het
Pik3r5	T	C	11: 68,492,273	L306P	possibly damaging	Het
Pikfyve	T	A	1: 65,246,080	M826K	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,106	R898G	possibly damaging	Het
Prl7b1	A	G	13: 27,606,985	V39A	probably benign	Het
Pros1	T	A	16: 62,928,034	D623E	probably damaging	Het
Psg16	A	G	7: 17,098,099	D320G	probably benign	Het
Ptpre	T	A	7: 135,679,146	H612Q	probably damaging	Het
Rbm34	A	G	8: 126,953,178	S283P	probably damaging	Het
Rc3h2	A	T	2: 37,414,690	N19K	possibly damaging	Het
Sacm1l	T	A	9: 123,552,762	L143*	probably null	Het
Sept9	T	A	11: 117,290,634	S105T	probably damaging	Het
Shprh	T	C	10: 11,162,845	M448T	possibly damaging	Het
Slc6a20a	A	C	9: 123,636,998	*593E	probably null	Het
Smarcc1	A	G	9: 110,135,642	D89G	possibly damaging	Het
Svep1	T	A	4: 58,087,778	Y1767F	possibly damaging	Het
Tanc2	T	C	11: 105,798,777	V255A	probably benign	Het
Tiam1	A	G	16: 89,860,267	S694P	probably damaging	Het
Tmem130	T	C	5: 144,743,719	T292A		Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	11: 94,214,377		probably benign	Het
Tpcn2	A	G	7: 145,260,925	Y480H	probably damaging	Het
Trf	G	T	9: 103,211,888	A600D	probably damaging	Het
Ttc16	A	T	2: 32,769,220	L346Q	probably damaging	Het
Vars	A	C	17: 35,004,797	K229N	possibly damaging	Het
Vmn1r113	G	T	7: 20,787,417	G45C	probably damaging	Het
Vmn1r32	A	G	6: 66,553,036	V252A	probably benign	Het
Vmn2r93	A	G	17: 18,325,881	T672A	probably damaging	Het
Wdfy4	T	A	14: 33,097,850	T1466S		Het
Zcwpw1	T	C	5: 137,810,920	Y317H	probably damaging	Het
Zfp169	T	C	13: 48,491,081	E190G	unknown	Het
Zfp273	A	T	13: 67,825,566	H271L	probably damaging	Het
Zfp764	C	A	7: 127,406,547	E20*	probably null	Het
Znfx1	A	T	2: 167,050,378	N639K	probably benign	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
R5070:Oit3	UTSW	10	59424027	missense	probably damaging	1.00
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
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'- TCTGTCCACAGCTTAAGCAC -3'
(R):5'- CGCTGGCTCATACACGATAG -3'

Sequencing Primer
(F):5'- GTAGCCATTTCCTTAGGCTGACAAAC -3'
(R):5'- TAGGGCATCTGGGAAGACAC -3'

Posted On

2022-01-20