Mutagenetix > Incidental Mutation

Incidental Mutation 'R4346:Ogfod2'

324330

Institutional Source

Beutler Lab

Gene Symbol

Ogfod2

Ensembl Gene

ENSMUSG00000023707

Gene Name

2-oxoglutarate and iron-dependent oxygenase domain containing 2

Synonyms

1300006G11Rik, 5730405M13Rik

MMRRC Submission

041667-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R4346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124250384-124253544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124251357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 57 (Y57C)

Ref Sequence

ENSEMBL: ENSMUSP00000143318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024470] [ENSMUST00000031351] [ENSMUST00000119269] [ENSMUST00000122394] [ENSMUST00000198770] [ENSMUST00000196627] [ENSMUST00000198505] [ENSMUST00000145667] [ENSMUST00000196401] [ENSMUST00000149835]

AlphaFold

Q9CQ04

Predicted Effect

probably damaging
Transcript: ENSMUST00000024470
AA Change: Y88C

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

SMART Domains

Protein: ENSMUSP00000024470
Gene: ENSMUSG00000023707
AA Change: Y88C

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Blast:P4Hc	42	100	2e-6	BLAST
low complexity region	102	112	N/A	INTRINSIC
P4Hc	136	307	7.91e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000031351

SMART Domains

Protein: ENSMUSP00000031351
Gene: ENSMUSG00000029404

Domain	Start	End	E-Value	Type
Pfam:SR-25	7	227	2.7e-104	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119269
AA Change: Y88C

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

SMART Domains

Protein: ENSMUSP00000112701
Gene: ENSMUSG00000023707
AA Change: Y88C

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Blast:P4Hc	42	133	1e-22	BLAST
Blast:P4Hc	136	175	1e-20	BLAST
low complexity region	176	187	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122394

SMART Domains

Protein: ENSMUSP00000112506
Gene: ENSMUSG00000029404

Domain	Start	End	E-Value	Type
Pfam:SR-25	2	199	6.3e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148365

Predicted Effect

probably damaging
Transcript: ENSMUST00000198770
AA Change: Y57C

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

SMART Domains

Protein: ENSMUSP00000143318
Gene: ENSMUSG00000023707
AA Change: Y57C

Domain	Start	End	E-Value	Type
Blast:P4Hc	11	102	7e-24	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000196627
AA Change: Y88C

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

SMART Domains

Protein: ENSMUSP00000143698
Gene: ENSMUSG00000023707
AA Change: Y88C

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Blast:P4Hc	42	133	1e-23	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000198505
AA Change: T82A

SMART Domains

Protein: ENSMUSP00000142965
Gene: ENSMUSG00000023707
AA Change: T82A

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
low complexity region	30	45	N/A	INTRINSIC
low complexity region	48	61	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000199457
AA Change: Y87C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136955

Predicted Effect

probably benign
Transcript: ENSMUST00000145667

SMART Domains

Protein: ENSMUSP00000122377
Gene: ENSMUSG00000029404

Domain	Start	End	E-Value	Type
Pfam:SR-25	19	227	3e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196401

SMART Domains

Protein: ENSMUSP00000142496
Gene: ENSMUSG00000029404

Domain	Start	End	E-Value	Type
low complexity region	29	50	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149835

SMART Domains

Protein: ENSMUSP00000116269
Gene: ENSMUSG00000029404

Domain	Start	End	E-Value	Type
low complexity region	5	32	N/A	INTRINSIC
SCOP:d1l9ha_	58	84	7e-3	SMART

Meta Mutation Damage Score

0.8351

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (31/31)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	G	A	2: 154,887,651 (GRCm39)	R37Q	probably benign	Het
Adam12	T	C	7: 133,583,264 (GRCm39)	T128A	possibly damaging	Het
Dnah8	A	T	17: 30,944,072 (GRCm39)	Q1763L	possibly damaging	Het
Dvl3	G	A	16: 20,350,049 (GRCm39)	R645H	possibly damaging	Het
Egflam	A	T	15: 7,263,759 (GRCm39)	C730*	probably null	Het
Fbxo40	T	C	16: 36,790,525 (GRCm39)	E195G	probably benign	Het
Frmd4a	T	C	2: 4,612,844 (GRCm39)	S1025P	possibly damaging	Het
Gba2	A	G	4: 43,571,337 (GRCm39)	V204A	probably benign	Het
Igkv8-28	C	T	6: 70,121,096 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,988,357 (GRCm39)	M308T	probably damaging	Het
Map1a	A	G	2: 121,131,806 (GRCm39)	N874S	probably benign	Het
Med12l	A	T	3: 58,938,976 (GRCm39)	T37S	probably damaging	Het
Or5b94	A	G	19: 12,651,592 (GRCm39)	T8A	probably benign	Het
Plxnd1	A	G	6: 115,954,941 (GRCm39)	V607A	probably benign	Het
Pnpt1	A	G	11: 29,095,478 (GRCm39)	D409G	probably damaging	Het
Pycr3	G	A	15: 75,790,580 (GRCm39)	T93I	probably damaging	Het
Ros1	A	G	10: 52,044,705 (GRCm39)	Y201H	possibly damaging	Het
Scart2	G	A	7: 139,827,878 (GRCm39)	V29M	probably damaging	Het
Slc25a54	A	G	3: 109,010,055 (GRCm39)	T185A	possibly damaging	Het
Smarcc2	A	G	10: 128,304,692 (GRCm39)	I221V	probably benign	Het
Tnfrsf19	C	A	14: 61,209,429 (GRCm39)		probably null	Het
Ttll11	T	C	2: 35,674,130 (GRCm39)	N599S	probably benign	Het
Ttn	T	G	2: 76,638,926 (GRCm39)	I13919L	probably damaging	Het
Vmn2r63	A	G	7: 42,577,537 (GRCm39)	F334L	possibly damaging	Het
Vps13d	A	G	4: 144,799,099 (GRCm39)		probably benign	Het
Zfp646	A	G	7: 127,478,681 (GRCm39)	Y286C	probably damaging	Het

Other mutations in Ogfod2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02305:Ogfod2	APN	5	124,250,910 (GRCm39)	critical splice donor site	probably null
IGL03304:Ogfod2	APN	5	124,250,886 (GRCm39)	missense	probably damaging	0.99
R0018:Ogfod2	UTSW	5	124,252,588 (GRCm39)	unclassified	probably benign
R0681:Ogfod2	UTSW	5	124,250,907 (GRCm39)	missense	probably null	1.00
R0751:Ogfod2	UTSW	5	124,251,539 (GRCm39)	unclassified	probably benign
R1744:Ogfod2	UTSW	5	124,252,219 (GRCm39)	splice site	probably null
R1800:Ogfod2	UTSW	5	124,253,019 (GRCm39)	missense	probably damaging	1.00
R2211:Ogfod2	UTSW	5	124,250,843 (GRCm39)	splice site	probably null
R3977:Ogfod2	UTSW	5	124,251,272 (GRCm39)	splice site	probably null
R4508:Ogfod2	UTSW	5	124,251,317 (GRCm39)	nonsense	probably null
R4537:Ogfod2	UTSW	5	124,252,591 (GRCm39)	unclassified	probably benign
R5795:Ogfod2	UTSW	5	124,252,824 (GRCm39)	missense	probably damaging	1.00
R6647:Ogfod2	UTSW	5	124,252,866 (GRCm39)	missense	possibly damaging	0.95
R7101:Ogfod2	UTSW	5	124,252,558 (GRCm39)	missense	unknown
R8001:Ogfod2	UTSW	5	124,252,946 (GRCm39)	missense	probably damaging	1.00
R8139:Ogfod2	UTSW	5	124,251,538 (GRCm39)	missense	possibly damaging	0.69
R9080:Ogfod2	UTSW	5	124,253,007 (GRCm39)	missense	probably damaging	0.99
R9258:Ogfod2	UTSW	5	124,250,505 (GRCm39)	missense	probably benign
R9619:Ogfod2	UTSW	5	124,252,470 (GRCm39)	missense	probably damaging	1.00
R9675:Ogfod2	UTSW	5	124,252,452 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGCCTAGGTTACACTTCAC -3'
(R):5'- AGAAGGCCCTCAAGATCTGC -3'

Sequencing Primer
(F):5'- AGCCTAGGTTACACTTCACTTTGG -3'
(R):5'- GGACGTACTATATTCAGCTGCAGC -3'

Posted On

2015-06-24