Mutagenetix > Incidental Mutation

Incidental Mutation 'R1563:Oit3'

170763

Institutional Source

Beutler Lab

Gene Symbol

Oit3

Ensembl Gene

ENSMUSG00000009654

Gene Name

oncoprotein induced transcript 3

Synonyms

EF-9

MMRRC Submission

039602-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.314) question?

Stock #

R1563 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59258782-59277601 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59263896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 413 (R413S)

Ref Sequence

ENSEMBL: ENSMUSP00000009798 (fasta)

Gene Model

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

AlphaFold

Q8R4V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000009798
AA Change: R413S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: R413S

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

Meta Mutation Damage Score

0.2027

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

98% (82/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,001,569 (GRCm39)	M22T	probably benign	Het
A930018M24Rik	A	G	14: 51,134,576 (GRCm39)	L22P	probably damaging	Het
Aipl1	A	T	11: 71,927,538 (GRCm39)	M59K	probably damaging	Het
Atg2b	T	C	12: 105,589,747 (GRCm39)	I1835V	probably damaging	Het
Cacna1i	A	T	15: 80,274,056 (GRCm39)		probably benign	Het
Cacna1i	T	C	15: 80,205,389 (GRCm39)	V115A	probably damaging	Het
Catsperb	T	A	12: 101,554,361 (GRCm39)	M685K	probably damaging	Het
Cdh10	T	A	15: 18,986,853 (GRCm39)	Y361*	probably null	Het
Clcn4	C	T	7: 7,296,981 (GRCm39)	C219Y	probably damaging	Het
Cpeb2	G	A	5: 43,443,080 (GRCm39)	V924M	probably damaging	Het
Cpxm2	T	C	7: 131,745,411 (GRCm39)	E138G	probably benign	Het
Dennd1a	T	C	2: 37,748,441 (GRCm39)	Y346C	probably damaging	Het
Dnah8	T	A	17: 30,854,638 (GRCm39)	L100Q	probably benign	Het
Dnajc6	A	C	4: 101,456,334 (GRCm39)	N76T	probably damaging	Het
Ehbp1	A	G	11: 22,009,231 (GRCm39)	L954P	probably damaging	Het
Eral1	A	T	11: 77,966,232 (GRCm39)	D315E	probably benign	Het
Fbln2	G	T	6: 91,240,365 (GRCm39)	E724*	probably null	Het
Fyco1	A	G	9: 123,656,247 (GRCm39)		probably benign	Het
Fzd3	T	A	14: 65,473,173 (GRCm39)	E198D	probably damaging	Het
Fzd9	T	C	5: 135,279,408 (GRCm39)	N159S	probably damaging	Het
Galnt6	T	A	15: 100,601,259 (GRCm39)	Q340L	probably benign	Het
Gm20939	C	T	17: 95,184,522 (GRCm39)	A390V	probably damaging	Het
Gm5435	T	G	12: 82,542,464 (GRCm39)		noncoding transcript	Het
Gm9949	A	C	18: 62,317,089 (GRCm39)		probably benign	Het
Gprc5b	G	A	7: 118,582,984 (GRCm39)	T295I	probably benign	Het
Gria2	G	T	3: 80,598,704 (GRCm39)	Q777K	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Haao	T	C	17: 84,142,318 (GRCm39)	T174A	probably benign	Het
Hes6	A	T	1: 91,340,858 (GRCm39)	M1K	probably null	Het
Hook3	G	T	8: 26,600,780 (GRCm39)	Q43K	probably benign	Het
Klhl35	T	C	7: 99,120,902 (GRCm39)	V390A	probably damaging	Het
Myh9	G	T	15: 77,656,057 (GRCm39)	T1151K	probably damaging	Het
Nbn	A	T	4: 15,981,668 (GRCm39)	I587F	possibly damaging	Het
Nek4	A	G	14: 30,704,408 (GRCm39)	D696G	probably damaging	Het
Niban1	A	T	1: 151,591,424 (GRCm39)	Y522F	possibly damaging	Het
Nlrp2	T	C	7: 5,311,724 (GRCm39)	D52G	probably damaging	Het
Or4k48	T	A	2: 111,476,027 (GRCm39)	H105L	probably damaging	Het
Or6c1b	A	G	10: 129,273,580 (GRCm39)	M300V	probably benign	Het
Otof	T	C	5: 30,528,349 (GRCm39)	T1870A	probably benign	Het
Pdgfd	T	C	9: 6,293,939 (GRCm39)		probably null	Het
Pitrm1	T	C	13: 6,613,506 (GRCm39)	V526A	possibly damaging	Het
Pknox1	T	C	17: 31,814,256 (GRCm39)	S194P	probably damaging	Het
Plekhg5	T	C	4: 152,181,266 (GRCm39)	S8P	probably benign	Het
Ppp1r13b	T	C	12: 111,807,416 (GRCm39)	E157G	probably damaging	Het
Psmd3	C	T	11: 98,585,051 (GRCm39)	R466W	probably damaging	Het
Ptgfrn	A	G	3: 100,967,967 (GRCm39)	F542S	possibly damaging	Het
Ptgs1	A	T	2: 36,135,214 (GRCm39)	M393L	possibly damaging	Het
Qpct	T	A	17: 79,371,492 (GRCm39)	S87T	probably benign	Het
Qtrt1	T	A	9: 21,330,607 (GRCm39)	V269D	probably benign	Het
Rassf9	C	G	10: 102,380,821 (GRCm39)	R68G	probably damaging	Het
Relch	A	G	1: 105,647,259 (GRCm39)	Y707C	probably damaging	Het
Rif1	A	G	2: 51,963,235 (GRCm39)	E25G	probably damaging	Het
Rnf213	T	C	11: 119,305,352 (GRCm39)	F528L	probably benign	Het
Sgip1	T	C	4: 102,823,457 (GRCm39)	S693P	probably benign	Het
She	A	G	3: 89,761,921 (GRCm39)	D460G	probably benign	Het
Sipa1l1	G	T	12: 82,387,935 (GRCm39)	V54L	probably benign	Het
Slc8a3	T	A	12: 81,251,781 (GRCm39)	D640V	possibly damaging	Het
Smurf1	T	A	5: 144,819,323 (GRCm39)	E601D	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Synpo2l	A	G	14: 20,711,346 (GRCm39)	S425P	probably damaging	Het
Tbck	T	C	3: 132,421,454 (GRCm39)	V187A	possibly damaging	Het
Tcf23	A	T	5: 31,126,175 (GRCm39)	H18L	probably benign	Het
Tcp11l2	A	G	10: 84,420,808 (GRCm39)	S16G	probably damaging	Het
Tekt2	T	A	4: 126,217,200 (GRCm39)	M233L	probably benign	Het
Tex14	T	C	11: 87,427,634 (GRCm39)	S29P	probably damaging	Het
Tjp2	T	A	19: 24,110,067 (GRCm39)	N59I	probably damaging	Het
Tlr5	G	A	1: 182,802,575 (GRCm39)	M626I	probably benign	Het
Tnn	A	T	1: 159,952,985 (GRCm39)	V685D	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trhr	G	A	15: 44,060,497 (GRCm39)	V6I	probably benign	Het
Trim30c	C	T	7: 104,032,158 (GRCm39)	R301Q	probably benign	Het
Usp51	T	C	X: 151,790,988 (GRCm39)	I194T	probably benign	Het
Vmn2r63	A	G	7: 42,553,550 (GRCm39)	S569P	probably benign	Het
Vps26a	T	G	10: 62,300,459 (GRCm39)	I236L	probably benign	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zcchc14	T	C	8: 122,330,718 (GRCm39)	M882V	probably benign	Het
Zfhx2	A	G	14: 55,302,545 (GRCm39)	V1813A	probably benign	Het
Zswim2	C	T	2: 83,745,626 (GRCm39)	G604D	possibly damaging	Het
Zzef1	C	T	11: 72,739,559 (GRCm39)	Q669*	probably null	Het

Other mutations in Oit3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Oit3	APN	10	59,261,306 (GRCm39)	unclassified	probably benign
IGL01665:Oit3	APN	10	59,274,731 (GRCm39)	missense	probably damaging	1.00
IGL01839:Oit3	APN	10	59,265,318 (GRCm39)	missense	probably damaging	0.98
IGL02028:Oit3	APN	10	59,274,477 (GRCm39)	missense	probably damaging	0.98
PIT4585001:Oit3	UTSW	10	59,266,835 (GRCm39)	missense	possibly damaging	0.54
R0567:Oit3	UTSW	10	59,271,800 (GRCm39)	missense	probably damaging	0.99
R0781:Oit3	UTSW	10	59,264,016 (GRCm39)	missense	probably damaging	1.00
R1110:Oit3	UTSW	10	59,264,016 (GRCm39)	missense	probably damaging	1.00
R1623:Oit3	UTSW	10	59,264,061 (GRCm39)	missense	probably damaging	0.99
R1693:Oit3	UTSW	10	59,261,239 (GRCm39)	missense	probably damaging	1.00
R1754:Oit3	UTSW	10	59,263,762 (GRCm39)	splice site	probably null
R1853:Oit3	UTSW	10	59,277,444 (GRCm39)	critical splice donor site	probably null
R2070:Oit3	UTSW	10	59,266,835 (GRCm39)	missense	probably benign	0.03
R2211:Oit3	UTSW	10	59,263,892 (GRCm39)	missense	probably damaging	1.00
R2516:Oit3	UTSW	10	59,277,507 (GRCm39)	start gained	probably benign
R2516:Oit3	UTSW	10	59,264,167 (GRCm39)	missense	probably damaging	1.00
R3103:Oit3	UTSW	10	59,274,713 (GRCm39)	missense	probably damaging	0.98
R4414:Oit3	UTSW	10	59,263,925 (GRCm39)	missense	probably damaging	1.00
R4415:Oit3	UTSW	10	59,263,925 (GRCm39)	missense	probably damaging	1.00
R4416:Oit3	UTSW	10	59,263,925 (GRCm39)	missense	probably damaging	1.00
R4417:Oit3	UTSW	10	59,263,925 (GRCm39)	missense	probably damaging	1.00
R4584:Oit3	UTSW	10	59,261,284 (GRCm39)	missense	probably damaging	1.00
R4734:Oit3	UTSW	10	59,259,904 (GRCm39)	missense	probably damaging	0.99
R4748:Oit3	UTSW	10	59,259,904 (GRCm39)	missense	probably damaging	0.99
R4749:Oit3	UTSW	10	59,259,904 (GRCm39)	missense	probably damaging	0.99
R5070:Oit3	UTSW	10	59,259,849 (GRCm39)	missense	probably damaging	1.00
R5521:Oit3	UTSW	10	59,271,736 (GRCm39)	missense	probably benign
R6326:Oit3	UTSW	10	59,264,061 (GRCm39)	missense	probably damaging	1.00
R6490:Oit3	UTSW	10	59,274,374 (GRCm39)	missense	possibly damaging	0.92
R6526:Oit3	UTSW	10	59,265,462 (GRCm39)	missense	probably damaging	1.00
R6766:Oit3	UTSW	10	59,274,534 (GRCm39)	missense	probably damaging	0.99
R6921:Oit3	UTSW	10	59,271,767 (GRCm39)	missense	probably damaging	0.99
R7129:Oit3	UTSW	10	59,264,166 (GRCm39)	missense	probably damaging	0.99
R7440:Oit3	UTSW	10	59,265,392 (GRCm39)	missense	probably damaging	0.99
R7495:Oit3	UTSW	10	59,259,765 (GRCm39)	missense	possibly damaging	0.74
R7512:Oit3	UTSW	10	59,274,716 (GRCm39)	missense	probably damaging	1.00
R7866:Oit3	UTSW	10	59,259,852 (GRCm39)	missense	probably benign	0.03
R8312:Oit3	UTSW	10	59,274,632 (GRCm39)	missense	probably benign	0.01
R8321:Oit3	UTSW	10	59,263,982 (GRCm39)	missense	probably benign	0.00
R8919:Oit3	UTSW	10	59,277,468 (GRCm39)	missense	unknown
R9131:Oit3	UTSW	10	59,271,751 (GRCm39)	missense	probably benign	0.01
R9457:Oit3	UTSW	10	59,277,505 (GRCm39)	start codon destroyed	unknown
R9478:Oit3	UTSW	10	59,274,464 (GRCm39)	missense	probably damaging	0.99
R9502:Oit3	UTSW	10	59,264,173 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCACACATTTCAAGTGACCCATC -3'
(R):5'- GAGTTCCCACGACTGTACACCATC -3'

Sequencing Primer
(F):5'- acaccacacaccacacac -3'
(R):5'- GACTGTACACCATCTCGGAAGG -3'

Posted On

2014-04-13