Mutagenetix > Incidental Mutation

Incidental Mutation 'R5690:Ogfod1'

443630

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

043323-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5690 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94037198-94067921 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94058141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 343 (S343T)

Ref Sequence

ENSEMBL: ENSMUSP00000051430 (fasta)

Gene Model

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

AlphaFold

Q3U0K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060632
AA Change: S343T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051430
Gene: ENSMUSG00000033009
AA Change: S343T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093301
AA Change: S315T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090991
Gene: ENSMUSG00000033009
AA Change: S315T

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

possibly damaging
Transcript: ENSMUST00000109556
AA Change: S358T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105183
Gene: ENSMUSG00000033009
AA Change: S358T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172674

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008F13Rik	G	A	2: 156,865,314	V58I	probably benign	Het
2810474O19Rik	T	C	6: 149,328,237	L927S	possibly damaging	Het
4930533K18Rik	A	G	10: 70,923,314		probably benign	Het
Acadl	T	C	1: 66,853,286	Y126C	probably damaging	Het
Ak6	A	G	13: 100,655,621		probably null	Het
Ap1s1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	5: 137,037,379		probably benign	Het
Aqp7	G	A	4: 41,035,510	T115I	probably benign	Het
Atp6v1e1	A	T	6: 120,808,356		probably null	Het
Axin1	A	G	17: 26,194,937	Y792C	probably damaging	Het
C1s2	T	C	6: 124,631,037	N233S	probably benign	Het
Ccer2	C	A	7: 28,756,204		probably benign	Het
Cfap46	A	G	7: 139,638,353	S1481P	probably benign	Het
Cspg4	A	T	9: 56,898,735	T2277S	probably benign	Het
Ctsl	T	A	13: 64,365,208	N300I	probably damaging	Het
Dnah2	T	C	11: 69,491,544	I1247V	probably benign	Het
Dsg3	A	T	18: 20,522,051	Q135L	probably benign	Het
Efcab14	G	A	4: 115,760,047	V318M	possibly damaging	Het
Etl4	G	A	2: 20,805,836	S910N	probably benign	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Frmd4b	T	C	6: 97,353,203	E133G	possibly damaging	Het
Herc2	T	C	7: 56,157,705	F2514S	probably benign	Het
Il18rap	A	G	1: 40,537,112	D261G	possibly damaging	Het
Klk1b16	A	G	7: 44,140,894		probably null	Het
Lrp1b	A	C	2: 40,750,894		probably null	Het
Mrpl45	C	A	11: 97,321,586		probably benign	Het
Myh13	A	G	11: 67,329,275	E150G	probably damaging	Het
Nbas	T	A	12: 13,336,284	V737D	probably damaging	Het
Ncr1	T	C	7: 4,338,297	Y59H	probably damaging	Het
Nt5c1a	T	A	4: 123,215,939	V277E	probably damaging	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Pnpla1	A	T	17: 28,878,372	I171F	probably damaging	Het
Rdh8	A	G	9: 20,825,489	N259S	probably damaging	Het
Slc22a12	A	G	19: 6,536,848	M496T	probably benign	Het
Slc8b1	G	A	5: 120,513,205	W10*	probably null	Het
Smarcc2	G	A	10: 128,484,407	G887S	probably damaging	Het
Smc1b	A	G	15: 85,112,773	S549P	probably damaging	Het
Synj2	A	G	17: 6,035,527	M1181V	probably benign	Het
Tbx15	T	C	3: 99,308,850	S76P	probably damaging	Het
Tbx2	A	T	11: 85,837,053	I271F	probably damaging	Het
Thap4	A	G	1: 93,716,630		probably null	Het
Tmc2	A	G	2: 130,232,386	Y333C	probably damaging	Het
Trcg1	C	T	9: 57,241,811	P222L	probably benign	Het
Tubb3	T	C	8: 123,421,306	V326A	probably benign	Het
Unc80	A	C	1: 66,640,572	I2101L	probably benign	Het
Vmn1r19	T	C	6: 57,404,795	L111S	probably benign	Het
Vps16	C	T	2: 130,439,091	Q226*	probably null	Het
Xpo4	T	C	14: 57,590,989	I805V	probably benign	Het

Other mutations in Ogfod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Ogfod1	APN	8	94063006	missense	probably damaging	1.00
IGL01296:Ogfod1	APN	8	94055671	splice site	probably benign
IGL01369:Ogfod1	APN	8	94063091	critical splice donor site	probably null
IGL02113:Ogfod1	APN	8	94064213	missense	probably damaging	1.00
IGL02228:Ogfod1	APN	8	94062987	missense	probably benign	0.00
IGL03057:Ogfod1	APN	8	94056138	missense	possibly damaging	0.78
IGL03071:Ogfod1	APN	8	94057767	missense	probably damaging	1.00
R0391:Ogfod1	UTSW	8	94063023	missense	probably damaging	1.00
R0395:Ogfod1	UTSW	8	94063528	critical splice donor site	probably null
R0518:Ogfod1	UTSW	8	94055248	splice site	probably null
R0605:Ogfod1	UTSW	8	94047267	splice site	probably benign
R0708:Ogfod1	UTSW	8	94039045	missense	possibly damaging	0.89
R0763:Ogfod1	UTSW	8	94055636	missense	probably benign	0.03
R1101:Ogfod1	UTSW	8	94064304	missense	probably benign
R1244:Ogfod1	UTSW	8	94037371	missense	probably benign
R1332:Ogfod1	UTSW	8	94058099	missense	probably damaging	1.00
R1336:Ogfod1	UTSW	8	94058099	missense	probably damaging	1.00
R2301:Ogfod1	UTSW	8	94037368	missense	probably damaging	0.99
R3025:Ogfod1	UTSW	8	94063052	missense	probably damaging	1.00
R3710:Ogfod1	UTSW	8	94057752	nonsense	probably null
R4612:Ogfod1	UTSW	8	94037347	missense	possibly damaging	0.66
R5349:Ogfod1	UTSW	8	94055248	splice site	probably benign
R5495:Ogfod1	UTSW	8	94064278	missense	probably benign	0.30
R6355:Ogfod1	UTSW	8	94062982	missense	probably benign
R7282:Ogfod1	UTSW	8	94037439	missense	possibly damaging	0.47
R7396:Ogfod1	UTSW	8	94038987	missense	probably benign	0.00
R7651:Ogfod1	UTSW	8	94037353	missense	probably benign	0.04
R8868:Ogfod1	UTSW	8	94047278	missense	probably damaging	1.00
X0027:Ogfod1	UTSW	8	94037404	missense	probably benign	0.08
Z1177:Ogfod1	UTSW	8	94037309	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTCCTAGCAGACACTCACTAG -3'
(R):5'- CTCTTGACTGTGACTGCCAG -3'

Sequencing Primer
(F):5'- CCATCATTTAGGGAGAAGGGCTC -3'
(R):5'- AGCGGCCACCTGATTATTC -3'

Posted On

2016-11-09