Mutagenetix > Incidental Mutations

Incidental Mutation 'R7866:Oit3'

607789

Institutional Source

Beutler Lab

Gene Symbol

Oit3

Ensembl Gene

ENSMUSG00000009654

Gene Name

oncoprotein induced transcript 3

Synonyms

EF-9

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.384) question?

Stock #

R7866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59422958-59441778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59424030 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 517 (V517A)

Ref Sequence

ENSEMBL: ENSMUSP00000009798 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000009798
AA Change: V517A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: V517A

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	C	T	17: 31,098,295	R194*	probably null	Het
Actl6a	A	G	3: 32,712,113	T39A	possibly damaging	Het
Adamts6	T	A	13: 104,413,749	C624*	probably null	Het
Adgrl1	T	C	8: 83,937,935		probably null	Het
Ap3m2	A	G	8: 22,799,658	V143A	probably benign	Het
Ap5m1	T	C	14: 49,073,761	V96A	probably damaging	Het
Aqp5	T	A	15: 99,591,543	V91E	probably damaging	Het
Atp6v0b	A	T	4: 117,885,153	I181N	probably damaging	Het
Ccp110	T	A	7: 118,723,018	M632K	probably benign	Het
Cd44	A	T	2: 102,842,259		probably null	Het
Cidea	G	A	18: 67,358,784	R38Q	probably damaging	Het
Cnn3	T	C	3: 121,451,393	I86T	probably benign	Het
Col14a1	C	A	15: 55,388,620	D557E	unknown	Het
Col6a6	T	C	9: 105,689,561	Y2245C	probably damaging	Het
Dhrs4	A	T	14: 55,487,635	N196Y	probably damaging	Het
Dnah8	T	C	17: 30,874,927	V4665A	possibly damaging	Het
Dpep2	T	C	8: 105,989,481	T267A		Het
Dtx3l	T	A	16: 35,938,750	Q43L	probably benign	Het
Ednrb	A	G	14: 103,843,302	S59P	probably benign	Het
Eml4	A	G	17: 83,450,697	T435A	probably benign	Het
Fam135b	A	T	15: 71,462,076	F1090I	probably benign	Het
Filip1	A	G	9: 79,818,943	V798A	probably benign	Het
Fnip1	T	G	11: 54,465,402		probably benign	Het
Gabrb2	C	T	11: 42,487,223	Q89*	probably null	Het
Gm960	T	A	19: 4,698,486	R61S	unknown	Het
Gtf2ird1	A	T	5: 134,363,209	V882E	probably benign	Het
Gucy1a2	T	A	9: 3,532,804	M1K	probably null	Het
Igkv10-96	T	A	6: 68,632,041	D90V	possibly damaging	Het
Igkv4-54	G	A	6: 69,631,756	R60C	probably benign	Het
Igkv7-33	G	T	6: 70,058,863	A45D	probably damaging	Het
Klk1b22	A	T	7: 44,112,744	I15F	possibly damaging	Het
Lamp3	T	A	16: 19,699,740	D249V	probably benign	Het
Lrrfip2	T	C	9: 111,193,081	V125A	possibly damaging	Het
Mprip	G	A	11: 59,752,930	R638H	possibly damaging	Het
Muc5ac	A	G	7: 141,795,852	M501V	probably benign	Het
Myo5a	C	T	9: 75,203,752	P1509S	probably damaging	Het
Ngdn	A	G	14: 55,021,097	Y63C	probably damaging	Het
Olfr935	A	T	9: 38,994,731	S235T	not run	Het
Pcdhb18	T	A	18: 37,490,459	F281I	probably damaging	Het
Pkd1	C	A	17: 24,590,907	Q3520K	probably benign	Het
Plxnb1	T	A	9: 109,100,457	I127N	probably damaging	Het
Ppfia2	A	T	10: 106,819,529	N319I	probably damaging	Het
Pxn	T	C	5: 115,548,606	S386P	possibly damaging	Het
Ralgps2	C	T	1: 156,887,168	V104I	probably benign	Het
Rp1	C	T	1: 4,347,701	V1063I	probably benign	Het
Slc10a5	A	T	3: 10,334,472	F376Y	probably damaging	Het
Snd1	T	A	6: 28,527,725	I277N	probably damaging	Het
Spc25	A	G	2: 69,206,062		probably null	Het
Tex29	A	G	8: 11,844,055	N6D	unknown	Het
Ttc30b	A	G	2: 75,936,619	S597P	possibly damaging	Het
Ttc6	G	A	12: 57,674,649	A975T	probably damaging	Het
Uba6	T	C	5: 86,172,701	E13G	probably damaging	Het
Ugcg	T	G	4: 59,211,927	C98G	possibly damaging	Het
Ugt2b36	T	A	5: 87,092,331	D65V	probably damaging	Het
Unc93b1	A	T	19: 3,935,243	D17V	not run	Het
Usf1	G	T	1: 171,417,894	W291C	unknown	Het
Vps29	T	C	5: 122,362,117	W97R	possibly damaging	Het
Zbtb6	T	C	2: 37,429,565	E117G	probably damaging	Het
Zfp735	A	C	11: 73,710,803	D191A	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
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

Predicted Primers

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

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

Posted On

2019-12-20