Mutagenetix > Incidental Mutation

Incidental Mutation 'R8312:Oit3'

641458

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: 0.252) question?

Stock #

R8312 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59422958-59441778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59438810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 56 (N56S)

Ref Sequence

ENSEMBL: ENSMUSP00000009798 (fasta)

Gene Model

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

AlphaFold

Q8R4V5

Predicted Effect

probably benign
Transcript: ENSMUST00000009798
AA Change: N56S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: N56S

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: 99.1%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	T	C	12: 84,615,416	R23G	probably damaging	Het
Abraxas2	A	G	7: 132,876,600	Y163C	probably damaging	Het
Acnat1	A	T	4: 49,449,142	L208*	probably null	Het
Agbl5	A	G	5: 30,894,506	E556G	probably damaging	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Arih2	A	G	9: 108,644,274	S2P	probably damaging	Het
C87436	T	A	6: 86,457,831	L387Q	probably damaging	Het
Card9	A	T	2: 26,357,789	Y183*	probably null	Het
Cdk14	T	C	5: 4,894,141	D394G	probably benign	Het
Cep135	C	T	5: 76,636,899	S947L	probably damaging	Het
Cfb	T	C	17: 34,858,145	K505E	probably benign	Het
Cnot4	T	A	6: 35,023,141	D708V	probably damaging	Het
Col16a1	T	A	4: 130,054,451	L281M	unknown	Het
Col6a3	G	T	1: 90,813,690	D673E	possibly damaging	Het
Ctdnep1	G	A	11: 69,988,701	S150N	probably benign	Het
Fanca	T	A	8: 123,269,810		probably benign	Het
Fras1	T	A	5: 96,588,191	N548K	probably benign	Het
Gbp2b	A	G	3: 142,599,051	M83V	probably benign	Het
Gbp2b	C	A	3: 142,599,054	P84T	probably damaging	Het
Gli2	A	T	1: 118,868,112		probably benign	Het
Greb1l	A	G	18: 10,511,587		probably benign	Het
Grn	A	C	11: 102,436,247	K557T	probably damaging	Het
Hapln1	C	T	13: 89,601,444	A36V	probably benign	Het
Heg1	C	T	16: 33,726,675	R635W	probably benign	Het
Hivep1	C	A	13: 42,155,177	Q298K	possibly damaging	Het
Hmcn1	A	G	1: 150,738,764	I1297T	probably damaging	Het
Hp1bp3	T	A	4: 138,223,439		probably benign	Het
Htr4	C	G	18: 62,437,478	F201L	probably damaging	Het
Insrr	C	G	3: 87,800,484	Q78E	possibly damaging	Het
Itga6	A	T	2: 71,855,953	M1072L	probably benign	Het
Kdsr	A	G	1: 106,747,486		probably null	Het
Klhl7	T	C	5: 24,134,967	I149T	probably damaging	Het
Lce1l	G	C	3: 92,850,459	P31A	unknown	Het
Mag	T	C	7: 30,911,469	Y116C	probably damaging	Het
Mast2	A	G	4: 116,430,486	S131P	probably benign	Het
Mlec	C	A	5: 115,150,207		probably null	Het
Mrap2	G	A	9: 87,169,659		probably null	Het
Myo5b	A	G	18: 74,733,962	K1395E	probably damaging	Het
Nipa2	G	A	7: 55,933,302	Q232*	probably null	Het
Nsd3	C	T	8: 25,663,252	T536M	probably damaging	Het
Olfr155	A	T	4: 43,854,461	I51F	probably benign	Het
Olfr165	T	C	16: 19,407,237	M260V	probably benign	Het
Olfr9	A	G	10: 128,990,478	T189A	probably benign	Het
Pax3	C	T	1: 78,195,369	R68Q	probably damaging	Het
Pcnx2	G	T	8: 125,762,850	H1668Q	possibly damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pkd1	A	G	17: 24,567,128	S463G	probably benign	Het
Plb1	C	T	5: 32,328,485	T871M	probably damaging	Het
Prdx1	A	G	4: 116,699,201	D182G	possibly damaging	Het
Prkch	T	A	12: 73,760,584	F593I	noncoding transcript	Het
Psrc1	C	T	3: 108,386,357	P194L	probably benign	Het
Ptp4a2	A	T	4: 129,839,634	I18L	probably benign	Het
Samd10	A	T	2: 181,596,875	L153H	probably damaging	Het
Shc3	T	G	13: 51,442,718	H423P	probably damaging	Het
Siae	A	T	9: 37,646,297	I467F		Het
Slc27a5	C	T	7: 12,991,287	R411Q	probably damaging	Het
Spata24	A	G	18: 35,660,808	I56T	probably benign	Het
Spns3	G	A	11: 72,499,708	T407M	probably damaging	Het
Spta1	G	A	1: 174,240,211	C2068Y	probably damaging	Het
Svs2	C	A	2: 164,238,171	G25W	probably damaging	Het
Thsd7a	T	C	6: 12,471,182	D479G		Het
Trhde	T	C	10: 114,413,287	Y858C	probably damaging	Het
Ttn	G	A	2: 76,951,648	R1057C	unknown	Het
Tulp4	G	T	17: 6,207,058		probably null	Het
Tyk2	T	C	9: 21,115,649	T613A	possibly damaging	Het
Ugt2b37	T	C	5: 87,242,940	K356R	probably benign	Het
Vmn1r39	A	G	6: 66,804,857	V159A	noncoding transcript	Het
Vps35	A	G	8: 85,274,869	V440A	possibly damaging	Het
Zmym6	A	G	4: 127,123,834	N1136S	probably damaging	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
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'- CGATACACGTAGTAGCCTCTG -3'
(R):5'- AGGTGGATGTAGCCAGTCATTG -3'

Sequencing Primer
(F):5'- GCGTTCCACAGACAGCAGTTTC -3'
(R):5'- GGCACTGTGATCTGAAACATC -3'

Posted On

2020-07-28