Mutagenetix > Incidental Mutation

Incidental Mutation 'R5521:Oit3'

431561

Institutional Source

Beutler Lab

Gene Symbol

Oit3

Ensembl Gene

ENSMUSG00000009654

Gene Name

oncoprotein induced transcript 3

Synonyms

EF-9

MMRRC Submission

043080-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.378) question?

Stock #

R5521 (G1)

Quality Score

144

Status

Validated

Chromosome

Chromosomal Location

59422958-59441778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59435914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 207 (A207E)

Ref Sequence

ENSEMBL: ENSMUSP00000009798 (fasta)

Gene Model

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

AlphaFold

Q8R4V5

Predicted Effect

probably benign
Transcript: ENSMUST00000009798
AA Change: A207E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000009798
Gene: ENSMUSG00000009654
AA Change: A207E

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 97.5%
10x: 94.4%
20x: 87.5%

Validation Efficiency

94% (72/77)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	G	9: 44,279,683 (GRCm38)		probably benign	Het
Abhd14a	G	T	9: 106,443,834 (GRCm38)	D107E	probably damaging	Het
Acat1	T	A	9: 53,583,507 (GRCm38)	K362*	probably null	Het
Adad2	T	A	8: 119,612,789 (GRCm38)	S3R	probably benign	Het
Adcy8	C	A	15: 64,815,350 (GRCm38)	R435M	probably damaging	Het
Adgrv1	A	T	13: 81,419,389 (GRCm38)	S5222T	probably benign	Het
Ankk1	A	T	9: 49,420,448 (GRCm38)	M182K	probably benign	Het
Apba1	C	T	19: 23,893,593 (GRCm38)	P263L	probably damaging	Het
Arhgap39	G	A	15: 76,765,494 (GRCm38)	S26L	possibly damaging	Het
Ccng1	G	A	11: 40,752,266 (GRCm38)	T118I	possibly damaging	Het
Cenpe	T	C	3: 135,269,065 (GRCm38)	S2329P	probably damaging	Het
Chil4	A	G	3: 106,203,697 (GRCm38)	Y294H	possibly damaging	Het
Chst8	A	C	7: 34,675,245 (GRCm38)	S390A	probably benign	Het
Dars	T	C	1: 128,373,973 (GRCm38)	D308G	probably benign	Het
Dlec1	A	C	9: 119,143,401 (GRCm38)	Q1458P	possibly damaging	Het
Dvl2	G	A	11: 70,006,407 (GRCm38)	E312K	probably damaging	Het
Fchsd1	T	C	18: 37,966,484 (GRCm38)	H219R	probably damaging	Het
Foxd4	A	C	19: 24,899,643 (GRCm38)	C398G	probably damaging	Het
Gm10719	T	A	9: 3,018,970 (GRCm38)	F72I	probably damaging	Het
Gm5414	T	C	15: 101,627,987 (GRCm38)	I68V	probably benign	Het
Gmip	C	T	8: 69,817,399 (GRCm38)	T684I	probably damaging	Het
Gpr137c	T	C	14: 45,278,694 (GRCm38)	I295T	possibly damaging	Het
Hivep1	T	A	13: 42,158,328 (GRCm38)	M1348K	probably damaging	Het
Igkv6-23	T	C	6: 70,260,613 (GRCm38)	D48G	probably benign	Het
Il3	G	A	11: 54,267,132 (GRCm38)	T40M	possibly damaging	Het
Ing2	T	C	8: 47,669,213 (GRCm38)	E100G	probably damaging	Het
Itpr3	C	A	17: 27,107,334 (GRCm38)	H1359Q	probably benign	Het
Lama1	T	A	17: 67,780,894 (GRCm38)	Y1502*	probably null	Het
Mamdc2	C	A	19: 23,310,938 (GRCm38)	G579W	probably damaging	Het
Mapk6	G	A	9: 75,393,316 (GRCm38)		probably benign	Het
Mapk8ip2	C	T	15: 89,458,804 (GRCm38)	R616W	probably damaging	Het
Mc5r	T	A	18: 68,339,677 (GRCm38)	L369H	possibly damaging	Het
Meis1	T	C	11: 18,988,260 (GRCm38)		probably benign	Het
Mmp8	A	G	9: 7,560,643 (GRCm38)	K107R	probably benign	Het
Mn1	C	T	5: 111,421,769 (GRCm38)	H1202Y	possibly damaging	Het
Naip2	A	G	13: 100,154,914 (GRCm38)	L1172P	probably damaging	Het
Nek9	C	T	12: 85,327,445 (GRCm38)	D273N	probably benign	Het
Nlrp4e	A	T	7: 23,321,765 (GRCm38)	D559V	probably benign	Het
Nlrp4g	T	C	9: 124,350,020 (GRCm38)		noncoding transcript	Het
Olfr1140	A	G	2: 87,747,062 (GRCm38)	I289V	probably benign	Het
Olfr298	A	T	7: 86,488,631 (GRCm38)	C307S	probably benign	Het
Olfr462	A	T	11: 87,889,719 (GRCm38)	M59K	probably damaging	Het
Olfr71	A	T	4: 43,705,788 (GRCm38)	M260K	possibly damaging	Het
Pde4c	T	C	8: 70,747,382 (GRCm38)		probably null	Het
Ppp1r26	A	G	2: 28,451,426 (GRCm38)	E356G	probably benign	Het
Pramef12	A	G	4: 144,395,971 (GRCm38)	M1T	probably null	Het
Ptges3-ps	T	A	6: 85,844,321 (GRCm38)		noncoding transcript	Het
Ptpn13	T	G	5: 103,501,428 (GRCm38)	F232L	probably benign	Het
Reps1	T	C	10: 18,104,234 (GRCm38)	S114P	probably damaging	Het
Scarf2	T	A	16: 17,803,602 (GRCm38)		probably null	Het
Sdha	A	T	13: 74,350,099 (GRCm38)		probably benign	Het
Secisbp2l	A	T	2: 125,752,977 (GRCm38)	V146D	possibly damaging	Het
Slc26a8	T	A	17: 28,654,859 (GRCm38)	T385S	probably benign	Het
Slc4a1	G	A	11: 102,353,266 (GRCm38)	T679M	probably benign	Het
Tbc1d14	T	A	5: 36,520,552 (GRCm38)	E353V	probably damaging	Het
Thap2	T	A	10: 115,372,760 (GRCm38)	K152*	probably null	Het
Thbd	A	T	2: 148,407,735 (GRCm38)	I71N	probably damaging	Het
V1ra8	T	A	6: 90,203,054 (GRCm38)	W80R	probably damaging	Het
Vmn1r218	A	G	13: 23,136,573 (GRCm38)	Y30C	probably benign	Het
Vmn2r60	C	A	7: 42,195,625 (GRCm38)	T804K	probably damaging	Het
Vmn2r68	A	T	7: 85,233,718 (GRCm38)	D275E	probably benign	Het
Vps13c	A	G	9: 67,951,439 (GRCm38)	I2724V	probably benign	Het
Xrcc5	C	A	1: 72,346,271 (GRCm38)	P507Q	probably damaging	Het
Zfp120	A	T	2: 150,117,579 (GRCm38)	Y274*	probably null	Het
Zfp780b	C	A	7: 27,974,748 (GRCm38)		probably null	Het

Other mutations in Oit3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Oit3	APN	10	59,425,484 (GRCm38)	unclassified	probably benign
IGL01665:Oit3	APN	10	59,438,909 (GRCm38)	missense	probably damaging	1.00
IGL01839:Oit3	APN	10	59,429,496 (GRCm38)	missense	probably damaging	0.98
IGL02028:Oit3	APN	10	59,438,655 (GRCm38)	missense	probably damaging	0.98
PIT4585001:Oit3	UTSW	10	59,431,013 (GRCm38)	missense	possibly damaging	0.54
R0567:Oit3	UTSW	10	59,435,978 (GRCm38)	missense	probably damaging	0.99
R0781:Oit3	UTSW	10	59,428,194 (GRCm38)	missense	probably damaging	1.00
R1110:Oit3	UTSW	10	59,428,194 (GRCm38)	missense	probably damaging	1.00
R1563:Oit3	UTSW	10	59,428,074 (GRCm38)	missense	probably damaging	1.00
R1623:Oit3	UTSW	10	59,428,239 (GRCm38)	missense	probably damaging	0.99
R1693:Oit3	UTSW	10	59,425,417 (GRCm38)	missense	probably damaging	1.00
R1754:Oit3	UTSW	10	59,427,940 (GRCm38)	splice site	probably null
R1853:Oit3	UTSW	10	59,441,622 (GRCm38)	critical splice donor site	probably null
R2070:Oit3	UTSW	10	59,431,013 (GRCm38)	missense	probably benign	0.03
R2211:Oit3	UTSW	10	59,428,070 (GRCm38)	missense	probably damaging	1.00
R2516:Oit3	UTSW	10	59,441,685 (GRCm38)	start gained	probably benign
R2516:Oit3	UTSW	10	59,428,345 (GRCm38)	missense	probably damaging	1.00
R3103:Oit3	UTSW	10	59,438,891 (GRCm38)	missense	probably damaging	0.98
R4414:Oit3	UTSW	10	59,428,103 (GRCm38)	missense	probably damaging	1.00
R4415:Oit3	UTSW	10	59,428,103 (GRCm38)	missense	probably damaging	1.00
R4416:Oit3	UTSW	10	59,428,103 (GRCm38)	missense	probably damaging	1.00
R4417:Oit3	UTSW	10	59,428,103 (GRCm38)	missense	probably damaging	1.00
R4584:Oit3	UTSW	10	59,425,462 (GRCm38)	missense	probably damaging	1.00
R4734:Oit3	UTSW	10	59,424,082 (GRCm38)	missense	probably damaging	0.99
R4748:Oit3	UTSW	10	59,424,082 (GRCm38)	missense	probably damaging	0.99
R4749:Oit3	UTSW	10	59,424,082 (GRCm38)	missense	probably damaging	0.99
R5070:Oit3	UTSW	10	59,424,027 (GRCm38)	missense	probably damaging	1.00
R6326:Oit3	UTSW	10	59,428,239 (GRCm38)	missense	probably damaging	1.00
R6490:Oit3	UTSW	10	59,438,552 (GRCm38)	missense	possibly damaging	0.92
R6526:Oit3	UTSW	10	59,429,640 (GRCm38)	missense	probably damaging	1.00
R6766:Oit3	UTSW	10	59,438,712 (GRCm38)	missense	probably damaging	0.99
R6921:Oit3	UTSW	10	59,435,945 (GRCm38)	missense	probably damaging	0.99
R7129:Oit3	UTSW	10	59,428,344 (GRCm38)	missense	probably damaging	0.99
R7440:Oit3	UTSW	10	59,429,570 (GRCm38)	missense	probably damaging	0.99
R7495:Oit3	UTSW	10	59,423,943 (GRCm38)	missense	possibly damaging	0.74
R7512:Oit3	UTSW	10	59,438,894 (GRCm38)	missense	probably damaging	1.00
R7866:Oit3	UTSW	10	59,424,030 (GRCm38)	missense	probably benign	0.03
R8312:Oit3	UTSW	10	59,438,810 (GRCm38)	missense	probably benign	0.01
R8321:Oit3	UTSW	10	59,428,160 (GRCm38)	missense	probably benign	0.00
R8919:Oit3	UTSW	10	59,441,646 (GRCm38)	missense	unknown
R9131:Oit3	UTSW	10	59,435,929 (GRCm38)	missense	probably benign	0.01
R9457:Oit3	UTSW	10	59,441,683 (GRCm38)	start codon destroyed	unknown
R9478:Oit3	UTSW	10	59,438,642 (GRCm38)	missense	probably damaging	0.99
R9502:Oit3	UTSW	10	59,428,351 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTCCACAGCTTAAGCACC -3'
(R):5'- CGCTGGCTCATACACGATAG -3'

Sequencing Primer
(F):5'- GGTGCCCTGTAGCCATTTC -3'
(R):5'- TAGGGCATCTGGGAAGACAC -3'

Posted On

2016-10-05