Mutagenetix > Incidental Mutation

Incidental Mutation 'R4584:Oit3'

343930

Institutional Source

Beutler Lab

Gene Symbol

Oit3

Ensembl Gene

ENSMUSG00000009654

Gene Name

oncoprotein induced transcript 3

Synonyms

EF-9

MMRRC Submission

041805-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R4584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59422958-59441778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59425462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 461 (D461G)

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: D461G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: D461G

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

Meta Mutation Damage Score

0.3576

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (86/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,160,017	N343D	probably damaging	Het
9530002B09Rik	T	A	4: 122,701,186	D78E	possibly damaging	Het
A2m	C	A	6: 121,657,406	D632E	probably benign	Het
Alpk2	A	G	18: 65,306,964	S453P	probably damaging	Het
Birc2	A	T	9: 7,833,674	F269I	probably damaging	Het
Ccdc66	G	A	14: 27,500,511	P92S	probably benign	Het
Cdc34	T	A	10: 79,688,035	D108E	possibly damaging	Het
Cdk5rap2	A	C	4: 70,266,760	V1151G	probably damaging	Het
Cemip	T	C	7: 83,958,539	K753R	probably damaging	Het
Cep295	A	T	9: 15,334,799	L787Q	possibly damaging	Het
Cideb	T	C	14: 55,758,270	N8S	probably benign	Het
Dagla	A	G	19: 10,271,009	Y96H	probably damaging	Het
Dapl1	C	A	2: 59,504,742	T80K	possibly damaging	Het
Ddx6	T	C	9: 44,624,487	V171A	probably damaging	Het
Dnah12	C	A	14: 26,772,594	T34K	probably damaging	Het
Dnhd1	T	C	7: 105,678,049	L735P	probably damaging	Het
Ep400	T	A	5: 110,733,897		probably benign	Het
Erlin1	G	T	19: 44,069,319	Y22*	probably null	Het
Gm11127	A	T	17: 36,057,667	M123K	probably damaging	Het
Gm13212	T	A	4: 145,617,177		probably null	Het
Gm5771	T	C	6: 41,396,767	L188P	probably benign	Het
Gmcl1	A	G	6: 86,722,623	S141P	probably damaging	Het
Gtf2a1	C	T	12: 91,562,926	V338I	possibly damaging	Het
Ighv1-66	T	A	12: 115,593,396	Q22L	possibly damaging	Het
Igkv4-80	T	C	6: 69,016,736	Y57C	probably damaging	Het
Itpk1	G	A	12: 102,570,157	A410V	possibly damaging	Het
Itsn1	T	A	16: 91,820,583		probably benign	Het
Kcnk3	G	T	5: 30,588,386	A24S	probably damaging	Het
Kif20a	A	G	18: 34,632,611	Y887C	probably damaging	Het
Klf13	T	C	7: 63,937,970	T193A	possibly damaging	Het
Klhl9	G	T	4: 88,721,907	H32Q	probably damaging	Het
Kndc1	C	G	7: 139,901,243	P82A	probably damaging	Het
Llgl1	T	A	11: 60,712,082	L861Q	probably damaging	Het
Lpcat2	A	G	8: 92,889,371	E305G	probably damaging	Het
Mib2	C	A	4: 155,657,287	A293S	probably damaging	Het
Mtfr1	A	G	3: 19,215,602	E138G	probably damaging	Het
Myoz1	A	G	14: 20,650,595	W185R	probably damaging	Het
Ninj1	T	A	13: 49,193,966		probably null	Het
Nlgn2	A	T	11: 69,834,278	V54E	possibly damaging	Het
Nlrc5	A	C	8: 94,477,275	I668L	probably damaging	Het
Npy6r	T	A	18: 44,276,195	C228S	probably damaging	Het
Nufip2	T	C	11: 77,741,728	V690A	unknown	Het
Nup107	T	C	10: 117,766,368	I513M	probably benign	Het
Olfr324	T	A	11: 58,598,004	F205I	probably benign	Het
Paxbp1	T	C	16: 91,034,123	D455G	probably damaging	Het
Pcdh7	A	T	5: 57,721,283	T727S	probably damaging	Het
Pex14	G	A	4: 148,970,596	A113V	probably damaging	Het
Phc3	A	G	3: 30,965,882	V23A	possibly damaging	Het
Plec	T	C	15: 76,231,206	D56G	possibly damaging	Het
Plekha7	C	A	7: 116,237,533		probably benign	Het
Prdm16	T	C	4: 154,337,683	E885G	probably damaging	Het
Psd2	A	G	18: 36,012,828	T762A	probably benign	Het
Psme4	T	A	11: 30,834,318	H964Q	probably damaging	Het
Rbak	C	T	5: 143,176,123	V51I	probably benign	Het
Rbfa	A	G	18: 80,200,506	L15P	probably benign	Het
Ren1	T	C	1: 133,354,808	Y84H	probably damaging	Het
Rps6ka5	A	T	12: 100,581,318	I311N	probably damaging	Het
Samd14	T	A	11: 95,021,535		probably null	Het
Scaf4	T	C	16: 90,229,515		probably benign	Het
Serpina12	A	T	12: 104,038,352	L7Q	unknown	Het
Serpinb9d	A	T	13: 33,200,616	E192V	probably damaging	Het
Slc22a29	A	T	19: 8,169,291	F382L	probably benign	Het
Snta1	T	A	2: 154,378,115	D375V	probably benign	Het
Stat5b	T	A	11: 100,787,238	Y683F	probably damaging	Het
Strip1	A	T	3: 107,624,503	Y257N	probably benign	Het
Sugp2	A	G	8: 70,251,898	H695R	probably benign	Het
Svep1	T	A	4: 58,068,526	R3087*	probably null	Het
Syngr2	T	C	11: 117,813,121	V138A	probably damaging	Het
Thra	T	C	11: 98,764,484	F397L	probably benign	Het
Tmem45b	T	A	9: 31,428,655	I149F	probably damaging	Het
Tmprss11f	C	T	5: 86,539,694		probably null	Het
Ush2a	C	T	1: 188,451,798	T1433I	probably benign	Het
Vmn2r109	A	T	17: 20,554,558	Y178*	probably null	Het
Vmn2r84	T	G	10: 130,390,713	M419L	probably benign	Het
Wnk2	C	T	13: 49,090,837	D508N	probably damaging	Het
Zfp276	A	G	8: 123,268,406		probably benign	Het
Zfp568	T	G	7: 29,998,192	F100V	probably benign	Het
Zfp667	T	A	7: 6,290,625	D41E	possibly 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
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
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'- TGCAGAAGCTAACCACAGGC -3'
(R):5'- CAGACATCCTACTTAGCCCTGC -3'

Sequencing Primer
(F):5'- CTCTTAGAATGTCAGTGCACCAGG -3'
(R):5'- TGACGATGCCTTTGCCAG -3'

Posted On

2015-09-24