Mutagenetix > Incidental Mutation

Incidental Mutation 'R7512:Oit3'

582161

Institutional Source

Beutler Lab

Gene Symbol

Oit3

Ensembl Gene

ENSMUSG00000009654

Gene Name

oncoprotein induced transcript 3

Synonyms

EF-9

MMRRC Submission

045585-MU

Accession Numbers

Essential gene?

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

Stock #

R7512 (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 59438894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 28 (Y28C)

Ref Sequence

ENSEMBL: ENSMUSP00000009798 (fasta)

Gene Model

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

AlphaFold

Q8R4V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000009798
AA Change: Y28C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: Y28C

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

Meta Mutation Damage Score

0.6600

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	G	A	10: 82,292,635	L1514F	probably benign	Het
Abca8b	C	T	11: 109,938,449	A1395T	probably benign	Het
Ank3	A	G	10: 69,990,861	K1787E		Het
Atg2a	C	T	19: 6,260,076	A1763V	probably damaging	Het
Bdp1	T	C	13: 100,050,949	I1637V	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Camsap3	A	G	8: 3,598,740	T20A	probably benign	Het
Ccnt2	T	A	1: 127,802,294	S303T	possibly damaging	Het
Cdh3	C	T	8: 106,539,008	Q228*	probably null	Het
Col19a1	C	T	1: 24,317,707	G632R	probably damaging	Het
Dock2	A	C	11: 34,312,542	C938G	possibly damaging	Het
Dync1i1	G	T	6: 5,969,410	V412L	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Fam185a	G	A	5: 21,447,358		probably null	Het
Fam189a1	C	T	7: 65,156,170	A52T	probably benign	Het
Fcho1	A	G	8: 71,716,863	L133P	possibly damaging	Het
Galnt12	G	A	4: 47,108,406	R181H	possibly damaging	Het
Gen1	A	G	12: 11,260,976	V85A	possibly damaging	Het
Gm12185	A	T	11: 48,915,890	I158K	probably benign	Het
Gm4027	G	T	12: 87,621,981	E128*	probably null	Het
Gm5624	T	C	14: 44,561,855	R82G		Het
Grap2	A	C	15: 80,648,553	N307T	probably benign	Het
H6pd	A	G	4: 149,995,948	F147L	probably benign	Het
Haspin	A	T	11: 73,136,592	I557N	probably damaging	Het
Hectd4	A	T	5: 121,297,109	K961N	possibly damaging	Het
Helz2	A	G	2: 181,230,854	M2495T	probably benign	Het
Helz2	A	T	2: 181,235,600		probably null	Het
Impdh1	T	C	6: 29,207,169	I59V	probably benign	Het
Kcnn1	A	T	8: 70,854,649	L200Q	possibly damaging	Het
Kif5c	T	A	2: 49,700,965	H276Q	probably damaging	Het
Kntc1	T	C	5: 123,790,938	L1259P	probably damaging	Het
Krtap4-1	A	T	11: 99,628,033	C50*	probably null	Het
Lat2	T	A	5: 134,605,944	D114V	probably damaging	Het
Lrrc41	A	G	4: 116,092,994	T535A	possibly damaging	Het
Ly75	A	T	2: 60,334,563	V757D	probably damaging	Het
Masp1	C	A	16: 23,470,124	R642L	probably damaging	Het
Morn3	A	G	5: 123,037,280		probably null	Het
Mpl	A	T	4: 118,448,892	I384N		Het
Mtmr14	C	T	6: 113,268,691	Q409*	probably null	Het
Nek1	T	A	8: 61,130,145	D1272E	probably benign	Het
Olfr1267-ps1	A	G	2: 90,085,696	I255T	possibly damaging	Het
Olfr204	T	A	16: 59,315,027	N127Y	probably damaging	Het
Olfr372	T	A	8: 72,058,523	I281N	probably damaging	Het
Pcdh15	T	C	10: 74,641,382	Y186H	possibly damaging	Het
Pcdhgb1	T	A	18: 37,682,365	D636E	probably damaging	Het
Pdgfra	A	T	5: 75,195,014	R1062*	probably null	Het
Pds5b	T	C	5: 150,788,342	F922L	probably damaging	Het
Pip5k1c	G	A	10: 81,315,119		probably null	Het
Ppp2r3a	T	C	9: 101,175,333	T226A	possibly damaging	Het
Ptprh	G	A	7: 4,571,781	T413I	possibly damaging	Het
Rora	C	A	9: 69,374,085	D382E	probably benign	Het
Sacs	T	A	14: 61,204,430	N1308K	probably benign	Het
Sgce	C	T	6: 4,707,192	D218N	possibly damaging	Het
Slc34a3	A	T	2: 25,232,241		probably null	Het
Slit1	T	C	19: 41,600,635	Y1471C	probably damaging	Het
Smarca2	G	T	19: 26,683,809	V935L	possibly damaging	Het
Smchd1	T	C	17: 71,381,369	N1298S	possibly damaging	Het
Sort1	T	A	3: 108,326,007		probably null	Het
Spata13	T	C	14: 60,751,777	L964P	probably damaging	Het
Trav7-6	C	A	14: 53,717,095	D47E	probably benign	Het
Ubap2l	A	G	3: 90,010,496	F864L	unknown	Het
Vmn2r102	C	T	17: 19,694,101	P643S	probably damaging	Het
Zfp112	T	A	7: 24,125,179	C195S	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
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
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'- TTGAGCCAGACAGGAGCATG -3'
(R):5'- TGCCACTTTTGCAAAGGTAAC -3'

Sequencing Primer
(F):5'- GCATGGGTCCCACAGTGATTTTC -3'
(R):5'- ACCATAGGCTGATATTGATCCGG -3'

Posted On

2019-10-17