Mutagenetix > Incidental Mutation

Incidental Mutation 'R6573:Gfod1'

523323

Institutional Source

Beutler Lab

Gene Symbol

Gfod1

Ensembl Gene

ENSMUSG00000051335

Gene Name

glucose-fructose oxidoreductase domain containing 1

Synonyms

MMRRC Submission

044697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6573 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43348721-43457648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43353841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 378 (S378N)

Ref Sequence

ENSEMBL: ENSMUSP00000062662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055341]

AlphaFold

Q3UHD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000055341
AA Change: S378N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062662
Gene: ENSMUSG00000051335
AA Change: S378N

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	4	118	7.8e-13	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ceacam5	A	G	7: 17,447,372 (GRCm39)	M1V	probably null	Het
Clstn1	A	G	4: 149,728,146 (GRCm39)	T605A	probably damaging	Het
Cstf2t	A	G	19: 31,061,180 (GRCm39)	M239V	probably benign	Het
Dsp	A	T	13: 38,380,838 (GRCm39)	R1929W	probably damaging	Het
Edf1	G	T	2: 25,451,875 (GRCm39)	R133L	probably damaging	Het
Efcab3	A	T	11: 104,971,461 (GRCm39)	Y129F	possibly damaging	Het
Entrep1	T	A	19: 23,965,866 (GRCm39)	N211I	probably damaging	Het
Fbxo34	A	T	14: 47,767,124 (GRCm39)	L212F	possibly damaging	Het
Flacc1	A	G	1: 58,706,003 (GRCm39)	F289L	probably benign	Het
Gas2l3	C	A	10: 89,258,072 (GRCm39)		probably null	Het
Gse1	T	C	8: 121,294,536 (GRCm39)	S288P	probably damaging	Het
Gzme	T	A	14: 56,356,283 (GRCm39)	T72S	probably benign	Het
Hyal5	T	C	6: 24,891,551 (GRCm39)	V455A	probably damaging	Het
Megf9	A	T	4: 70,406,409 (GRCm39)	C252*	probably null	Het
Mrgprg	T	C	7: 143,318,333 (GRCm39)	K260E	possibly damaging	Het
Nmi	T	A	2: 51,840,081 (GRCm39)	K220M	possibly damaging	Het
Nutm1	A	C	2: 112,081,388 (GRCm39)		probably null	Het
Or2ag1b	A	T	7: 106,288,670 (GRCm39)	D89E	probably benign	Het
Or8k16	C	T	2: 85,520,343 (GRCm39)	S190L	probably damaging	Het
Pde4b	T	A	4: 102,287,359 (GRCm39)	I34N	probably damaging	Het
Perm1	C	A	4: 156,303,130 (GRCm39)	A558D	probably damaging	Het
Pgpep1	A	G	8: 71,103,265 (GRCm39)	I203T	probably benign	Het
Pmp22	C	T	11: 63,049,099 (GRCm39)	A114V	probably damaging	Het
Prune2	G	T	19: 17,098,521 (GRCm39)	G1342C	probably damaging	Het
Prune2	G	T	19: 17,098,522 (GRCm39)	G1342V	possibly damaging	Het
Ros1	T	A	10: 52,031,106 (GRCm39)	I512F	possibly damaging	Het
Slc10a5	A	T	3: 10,400,110 (GRCm39)	F183L	probably damaging	Het
Slc13a1	T	C	6: 24,137,094 (GRCm39)	R107G	probably damaging	Het
Spag5	C	T	11: 78,205,008 (GRCm39)	Q598*	probably null	Het
Spata6	T	A	4: 111,636,476 (GRCm39)	F256I	probably damaging	Het
Tnnt1	C	A	7: 4,517,333 (GRCm39)		probably null	Het
Top2b	T	A	14: 16,398,991 (GRCm38)	L537Q	probably damaging	Het
Unc79	G	A	12: 103,027,647 (GRCm39)	E413K	probably damaging	Het
Vmn2r104	A	T	17: 20,262,487 (GRCm39)	F214L	probably damaging	Het
Vmn2r118	C	T	17: 55,899,996 (GRCm39)	C636Y	probably damaging	Het
Zfat	T	C	15: 68,037,703 (GRCm39)	N917S	probably damaging	Het
Zfp317	T	C	9: 19,556,550 (GRCm39)	S53P	probably damaging	Het

Other mutations in Gfod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02402:Gfod1	APN	13	43,354,211 (GRCm39)	missense	probably benign
R0483:Gfod1	UTSW	13	43,354,012 (GRCm39)	missense	possibly damaging	0.75
R0959:Gfod1	UTSW	13	43,456,905 (GRCm39)	missense	probably benign
R1913:Gfod1	UTSW	13	43,456,921 (GRCm39)	missense	probably damaging	0.98
R1927:Gfod1	UTSW	13	43,354,336 (GRCm39)	missense	possibly damaging	0.94
R2061:Gfod1	UTSW	13	43,456,719 (GRCm39)	critical splice donor site	probably null
R2154:Gfod1	UTSW	13	43,456,946 (GRCm39)	missense	possibly damaging	0.77
R2370:Gfod1	UTSW	13	43,354,621 (GRCm39)	missense	probably benign	0.04
R3956:Gfod1	UTSW	13	43,354,538 (GRCm39)	missense	probably damaging	0.98
R5061:Gfod1	UTSW	13	43,353,992 (GRCm39)	missense	probably benign	0.01
R6090:Gfod1	UTSW	13	43,354,437 (GRCm39)	nonsense	probably null
R6156:Gfod1	UTSW	13	43,354,514 (GRCm39)	missense	possibly damaging	0.88
R7692:Gfod1	UTSW	13	43,354,528 (GRCm39)	missense	probably benign	0.00
R8353:Gfod1	UTSW	13	43,354,366 (GRCm39)	missense	possibly damaging	0.82
R9063:Gfod1	UTSW	13	43,354,280 (GRCm39)	missense	probably benign	0.35
R9087:Gfod1	UTSW	13	43,353,838 (GRCm39)	missense	probably damaging	0.96
R9090:Gfod1	UTSW	13	43,456,861 (GRCm39)	missense	possibly damaging	0.92
R9271:Gfod1	UTSW	13	43,456,861 (GRCm39)	missense	possibly damaging	0.92
R9380:Gfod1	UTSW	13	43,354,320 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATCACCTGTGACTTGGG -3'
(R):5'- TTCCAGGATCAAGATGACCGG -3'

Sequencing Primer
(F):5'- GACTTGGGCCCTCTACTTAGGAC -3'
(R):5'- GATCAAGATGACCGGCGCAC -3'

Posted On

2018-06-22