Mutagenetix > Incidental Mutation

Incidental Mutation 'R9478:Oit3'

715938

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 #

R9478 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59422958-59441778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 59438642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 112 (C112F)

Ref Sequence

ENSEMBL: ENSMUSP00000009798 (fasta)

Gene Model

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

AlphaFold

Q8R4V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000009798
AA Change: C112F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: C112F

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: 100.0%
10x: 99.9%
20x: 99.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,303,454	I886F	possibly damaging	Het
3100002H09Rik	A	G	4: 124,610,358	S134P	unknown	Het
Abcf2	A	G	5: 24,565,942	L604P	possibly damaging	Het
Arih2	C	G	9: 108,611,739	R260P	probably damaging	Het
Atg14	G	T	14: 47,545,681	H373Q	probably damaging	Het
Atmin	C	T	8: 116,954,798	H179Y	probably damaging	Het
Catsperg1	G	T	7: 29,198,352	P197T	possibly damaging	Het
Ccdc189	T	C	7: 127,584,915		probably null	Het
Ccdc7b	C	T	8: 129,110,992	Q155*	probably null	Het
Cep85l	T	G	10: 53,348,779	E238A	possibly damaging	Het
Cntln	G	A	4: 84,979,393	V406I	probably benign	Het
Csf2rb2	C	A	15: 78,284,765	G730V	probably benign	Het
Cyp3a59	T	A	5: 146,098,187	L225Q	probably damaging	Het
Dock1	T	A	7: 134,766,233	F511I	probably damaging	Het
Dsg1b	A	T	18: 20,397,951	Y453F		Het
Dync1h1	T	C	12: 110,658,703	F3829L	probably benign	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Esco2	C	A	14: 65,831,208	G218*	probably null	Het
Gale	C	T	4: 135,965,263		probably benign	Het
Grid1	G	A	14: 35,321,707	D340N	probably damaging	Het
Hgf	A	G	5: 16,561,031	D55G	possibly damaging	Het
Il17ra	A	G	6: 120,474,375	D170G	possibly damaging	Het
Inha	A	G	1: 75,509,918	S286G	probably benign	Het
Kdelc2	T	C	9: 53,391,936	F232L	probably damaging	Het
Kif1b	C	T	4: 149,261,159		probably null	Het
Klhl24	T	G	16: 20,123,013	S570R	possibly damaging	Het
Krt83	G	A	15: 101,487,568	R308W	probably benign	Het
Lama2	T	A	10: 27,015,482	E2545V	probably damaging	Het
Lztfl1	T	C	9: 123,708,102	K165E	possibly damaging	Het
Mab21l3	A	T	3: 101,818,671	D336E	probably damaging	Het
Matn2	T	C	15: 34,345,096	I83T	probably damaging	Het
Mfsd9	T	C	1: 40,773,781	D458G	probably benign	Het
Ncbp3	A	G	11: 73,077,942	D513G	probably damaging	Het
Neb	T	A	2: 52,188,776	K5818N	probably benign	Het
Nol4	G	A	18: 22,920,877	P120S	probably damaging	Het
Olfr1270	C	A	2: 90,149,251	A252S	possibly damaging	Het
Olfr472	G	A	7: 107,903,031	V105M	probably damaging	Het
Olfr743	A	T	14: 50,533,594	T61S	probably benign	Het
Olfr782	T	A	10: 129,351,091	M176K	possibly damaging	Het
Pank4	G	A	4: 154,980,108	R708Q	probably benign	Het
Plch1	T	A	3: 63,699,404	L1026F	probably benign	Het
Ptpn3	A	T	4: 57,197,573	I772N	probably damaging	Het
Purb	A	G	11: 6,475,424	F155L	probably damaging	Het
Rcor2	C	T	19: 7,271,429	R256W	probably damaging	Het
Rp1	A	G	1: 4,347,322	L1189P	probably benign	Het
Scn1a	T	C	2: 66,326,149	E472G	probably benign	Het
Sema3e	T	C	5: 14,236,372	Y536H	probably damaging	Het
Serpina3n	A	T	12: 104,412,413	I331F	possibly damaging	Het
Sertad3	T	C	7: 27,476,254	S38P	probably damaging	Het
Sfrp4	G	T	13: 19,623,440	R3L	unknown	Het
Slc35a5	T	C	16: 45,144,063	E269G	probably damaging	Het
Snrnp200	G	A	2: 127,235,073		probably null	Het
Sumo1	A	G	1: 59,655,456		probably null	Het
Syne2	A	G	12: 76,107,613	K2020E	probably damaging	Het
Tcp10a	A	T	17: 7,334,341	T247S	probably benign	Het
Tgds	T	C	14: 118,115,132	D290G	possibly damaging	Het
Trav7d-3	A	T	14: 52,744,597	I32F	possibly damaging	Het
Vps41	A	G	13: 18,862,743	N788D		Het
Zfp521	G	A	18: 13,817,315	T1194I	probably damaging	Het
Zmynd8	C	A	2: 165,807,649	K841N	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
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
R9502:Oit3	UTSW	10	59428351	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATAACTGGCTTTCATACGGTGC -3'
(R):5'- TTCGACGAGTCCCAGAATCAAC -3'

Sequencing Primer
(F):5'- GGCTTTCATACGGTGCCTTTC -3'
(R):5'- TCTTTGCGACAACCATATGAACGG -3'

Posted On

2022-06-15