Mutagenetix > Incidental Mutation

Incidental Mutation 'R7396:Ogfod1'

573825

Institutional Source

Beutler Lab

Gene Symbol

Ogfod1

Ensembl Gene

ENSMUSG00000033009

Gene Name

2-oxoglutarate and iron-dependent oxygenase domain containing 1

Synonyms

4930415J21Rik

MMRRC Submission

045478-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94763826-94794549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94765615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 59 (D59E)

Ref Sequence

ENSEMBL: ENSMUSP00000105183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034204] [ENSMUST00000060632] [ENSMUST00000093301] [ENSMUST00000109556] [ENSMUST00000212981]

AlphaFold

Q3U0K8

Predicted Effect

probably benign
Transcript: ENSMUST00000034204

SMART Domains

Protein: ENSMUSP00000034204
Gene: ENSMUSG00000031754

Domain	Start	End	E-Value	Type
Pfam:NUDIX_2	35	222	9.9e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060632
AA Change: D44E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000051430
Gene: ENSMUSG00000033009
AA Change: D44E

Domain	Start	End	E-Value	Type
P4Hc	46	223	4.87e-26	SMART
Pfam:Ofd1_CTDD	246	513	1.4e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093301
AA Change: D59E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000090991
Gene: ENSMUSG00000033009
AA Change: D59E

Domain	Start	End	E-Value	Type
P4Hc	61	228	2.6e-12	SMART
low complexity region	328	353	N/A	INTRINSIC
low complexity region	375	389	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109556
AA Change: D59E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105183
Gene: ENSMUSG00000033009
AA Change: D59E

Domain	Start	End	E-Value	Type
P4Hc	61	238	4.87e-26	SMART
Pfam:Ofd1_CTDD	261	528	7.2e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212981

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (79/79)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 55,184,140 (GRCm39)		probably null	Het
Abcb5	A	G	12: 118,831,609 (GRCm39)	Y1248H	probably damaging	Het
Acacb	A	G	5: 114,351,722 (GRCm39)	D1153G	possibly damaging	Het
Acsm3	T	A	7: 119,373,052 (GRCm39)	L185H	probably damaging	Het
Actr1a	G	A	19: 46,368,068 (GRCm39)	T293I	probably benign	Het
Adig	T	C	2: 158,347,836 (GRCm39)	L50P	unknown	Het
Ankrd28	A	G	14: 31,424,159 (GRCm39)	S994P	probably benign	Het
Ankrd35	T	A	3: 96,590,813 (GRCm39)	D366E	probably damaging	Het
Aqr	A	T	2: 113,950,427 (GRCm39)	Y927*	probably null	Het
Asxl2	T	A	12: 3,492,529 (GRCm39)	I38N	probably damaging	Het
Atp9b	T	C	18: 80,780,057 (GRCm39)	I1092V		Het
B4galnt1	A	G	10: 127,007,485 (GRCm39)	E462G	possibly damaging	Het
BC048671	T	A	6: 90,280,273 (GRCm39)	V63E	probably damaging	Het
Bod1l	A	G	5: 41,988,889 (GRCm39)	V406A	probably damaging	Het
Btn1a1	T	G	13: 23,645,668 (GRCm39)	I234L	probably benign	Het
Camk2b	A	C	11: 5,928,432 (GRCm39)	S436A	probably benign	Het
Cc2d1a	A	T	8: 84,870,374 (GRCm39)		probably null	Het
Ces1b	G	T	8: 93,789,757 (GRCm39)	N390K	probably benign	Het
Chpf	T	C	1: 75,451,927 (GRCm39)	Q671R	probably benign	Het
Cspg4b	T	A	13: 113,455,524 (GRCm39)	S523R		Het
Dbr1	C	A	9: 99,465,443 (GRCm39)	N340K	probably damaging	Het
Dram1	T	A	10: 88,176,507 (GRCm39)	T73S	probably benign	Het
Efemp1	A	T	11: 28,817,501 (GRCm39)	R39S	possibly damaging	Het
Eif2b5	T	G	16: 20,324,887 (GRCm39)	I515S	possibly damaging	Het
Eif2d	A	T	1: 131,094,111 (GRCm39)	N434I	probably benign	Het
Ercc6	C	T	14: 32,291,762 (GRCm39)	T1042I	probably benign	Het
Etl4	C	T	2: 20,803,449 (GRCm39)	P1057L	possibly damaging	Het
Fbxw16	T	A	9: 109,278,091 (GRCm39)	N29I	probably damaging	Het
Fbxw18	T	C	9: 109,517,954 (GRCm39)	D344G	probably benign	Het
Fgf15	G	T	7: 144,453,542 (GRCm39)	V172L	probably benign	Het
Fmod	T	C	1: 133,967,978 (GRCm39)	V6A	probably benign	Het
Furin	C	A	7: 80,047,862 (GRCm39)	R86L	probably benign	Het
Gabrr1	T	C	4: 33,160,207 (GRCm39)	V297A	probably damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Helb	T	C	10: 119,925,476 (GRCm39)	D967G	probably benign	Het
Hmcn1	T	C	1: 150,439,382 (GRCm39)	T5601A	possibly damaging	Het
Hsbp1l1	G	T	18: 80,276,634 (GRCm39)	P70Q	not run	Het
Hsd17b1	T	C	11: 100,970,033 (GRCm39)	V155A	probably damaging	Het
Ireb2	T	A	9: 54,789,617 (GRCm39)	M97K	possibly damaging	Het
Kcnj6	C	A	16: 94,563,306 (GRCm39)	L397F	probably benign	Het
Lcorl	A	T	5: 46,014,801 (GRCm39)		probably null	Het
Lgi2	A	T	5: 52,695,753 (GRCm39)	I402N	probably damaging	Het
Lrat	T	A	3: 82,810,590 (GRCm39)	R144*	probably null	Het
Mfhas1	G	T	8: 36,057,353 (GRCm39)	L609F	probably damaging	Het
Mink1	T	A	11: 70,495,994 (GRCm39)	I398K	possibly damaging	Het
Muc5ac	A	T	7: 141,362,152 (GRCm39)	D1821V	unknown	Het
Myh2	T	C	11: 67,085,554 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,234,044 (GRCm39)	E386G	probably damaging	Het
Ndufaf3	C	T	9: 108,443,802 (GRCm39)	V76M	probably damaging	Het
Neurod4	T	C	10: 130,106,891 (GRCm39)	T128A	probably damaging	Het
Or2j6	C	T	7: 139,980,476 (GRCm39)	R161H	probably benign	Het
Or2w1b	T	C	13: 21,300,477 (GRCm39)	V205A	probably benign	Het
Or52n2b	C	T	7: 104,565,558 (GRCm39)	S315N	probably benign	Het
Pcdh15	T	A	10: 74,466,522 (GRCm39)	V1513D	probably benign	Het
Pclo	C	A	5: 14,589,902 (GRCm39)	T734K	unknown	Het
Phc2	A	G	4: 128,641,954 (GRCm39)	R759G	probably benign	Het
Plch1	A	T	3: 63,606,375 (GRCm39)	N1176K	probably benign	Het
Plec	T	A	15: 76,059,089 (GRCm39)	Y3616F	probably damaging	Het
Ptpn11	G	T	5: 121,282,707 (GRCm39)	T426N	probably benign	Het
Rictor	A	G	15: 6,816,462 (GRCm39)	T1245A	not run	Het
Rilp	T	C	11: 75,401,712 (GRCm39)	V164A	probably damaging	Het
Rnf39	A	T	17: 37,257,971 (GRCm39)	T168S	probably damaging	Het
Rptor	C	G	11: 119,763,181 (GRCm39)	Q922E	probably benign	Het
Sall1	A	T	8: 89,759,396 (GRCm39)	L236Q	probably damaging	Het
Skint7	A	G	4: 111,845,324 (GRCm39)	T379A	probably benign	Het
Spata22	C	A	11: 73,236,702 (GRCm39)	T336N	probably damaging	Het
Spata31	T	C	13: 65,068,547 (GRCm39)	S232P	probably benign	Het
Spink5	T	A	18: 44,110,722 (GRCm39)	C98S	possibly damaging	Het
Stard6	T	C	18: 70,633,506 (GRCm39)	V171A	possibly damaging	Het
Tex9	A	T	9: 72,388,072 (GRCm39)		probably null	Het
Traf7	T	C	17: 24,728,519 (GRCm39)	D621G	probably damaging	Het
Trak1	C	T	9: 121,277,973 (GRCm39)	T353M	possibly damaging	Het
Trim68	A	T	7: 102,327,569 (GRCm39)	Y461*	probably null	Het
Usp1	A	G	4: 98,814,688 (GRCm39)		probably benign	Het
Vmn2r42	T	A	7: 8,195,641 (GRCm39)	I502F	probably benign	Het
Wbp4	C	A	14: 79,714,261 (GRCm39)	G84C	probably damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp787	A	G	7: 6,135,106 (GRCm39)	*382Q	probably null	Het
Zfp831	G	T	2: 174,487,002 (GRCm39)	C559F	possibly damaging	Het
Zgpat	G	C	2: 181,007,882 (GRCm39)	A140P	probably benign	Het
Zscan4e	T	A	7: 11,041,002 (GRCm39)	Y290F	probably benign	Het

Other mutations in Ogfod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Ogfod1	APN	8	94,789,634 (GRCm39)	missense	probably damaging	1.00
IGL01296:Ogfod1	APN	8	94,782,299 (GRCm39)	splice site	probably benign
IGL01369:Ogfod1	APN	8	94,789,719 (GRCm39)	critical splice donor site	probably null
IGL02113:Ogfod1	APN	8	94,790,841 (GRCm39)	missense	probably damaging	1.00
IGL02228:Ogfod1	APN	8	94,789,615 (GRCm39)	missense	probably benign	0.00
IGL03057:Ogfod1	APN	8	94,782,766 (GRCm39)	missense	possibly damaging	0.78
IGL03071:Ogfod1	APN	8	94,784,395 (GRCm39)	missense	probably damaging	1.00
R0391:Ogfod1	UTSW	8	94,789,651 (GRCm39)	missense	probably damaging	1.00
R0395:Ogfod1	UTSW	8	94,790,156 (GRCm39)	critical splice donor site	probably null
R0518:Ogfod1	UTSW	8	94,781,876 (GRCm39)	splice site	probably null
R0605:Ogfod1	UTSW	8	94,773,895 (GRCm39)	splice site	probably benign
R0708:Ogfod1	UTSW	8	94,765,673 (GRCm39)	missense	possibly damaging	0.89
R0763:Ogfod1	UTSW	8	94,782,264 (GRCm39)	missense	probably benign	0.03
R1101:Ogfod1	UTSW	8	94,790,932 (GRCm39)	missense	probably benign
R1244:Ogfod1	UTSW	8	94,763,999 (GRCm39)	missense	probably benign
R1332:Ogfod1	UTSW	8	94,784,727 (GRCm39)	missense	probably damaging	1.00
R1336:Ogfod1	UTSW	8	94,784,727 (GRCm39)	missense	probably damaging	1.00
R2301:Ogfod1	UTSW	8	94,763,996 (GRCm39)	missense	probably damaging	0.99
R3025:Ogfod1	UTSW	8	94,789,680 (GRCm39)	missense	probably damaging	1.00
R3710:Ogfod1	UTSW	8	94,784,380 (GRCm39)	nonsense	probably null
R4612:Ogfod1	UTSW	8	94,763,975 (GRCm39)	missense	possibly damaging	0.66
R5349:Ogfod1	UTSW	8	94,781,876 (GRCm39)	splice site	probably benign
R5495:Ogfod1	UTSW	8	94,790,906 (GRCm39)	missense	probably benign	0.30
R5690:Ogfod1	UTSW	8	94,784,769 (GRCm39)	missense	probably damaging	0.99
R6355:Ogfod1	UTSW	8	94,789,610 (GRCm39)	missense	probably benign
R7282:Ogfod1	UTSW	8	94,764,067 (GRCm39)	missense	possibly damaging	0.47
R7651:Ogfod1	UTSW	8	94,763,981 (GRCm39)	missense	probably benign	0.04
R8868:Ogfod1	UTSW	8	94,773,906 (GRCm39)	missense	probably damaging	1.00
X0027:Ogfod1	UTSW	8	94,764,032 (GRCm39)	missense	probably benign	0.08
Z1177:Ogfod1	UTSW	8	94,763,937 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGAGCTTCCATTGGCGTC -3'
(R):5'- ATTTCTGGGGAGGAAGAGCC -3'

Sequencing Primer
(F):5'- CCTAACAGGGAAGCATAGTATCTG -3'
(R):5'- GGAAGAGCCAATGAATGCAATG -3'

Posted On

2019-09-13