Mutagenetix > Incidental Mutation

Incidental Mutation 'R4358:Gfod2'

324659

Institutional Source

Beutler Lab

Gene Symbol

Gfod2

Ensembl Gene

ENSMUSG00000013150

Gene Name

glucose-fructose oxidoreductase domain containing 2

Synonyms

5730466C23Rik

MMRRC Submission

041110-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106440676-106485299 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106444177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 122 (N122S)

Ref Sequence

ENSEMBL: ENSMUSP00000013294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013294] [ENSMUST00000155038]

AlphaFold

Q9CYH5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000013294
AA Change: N122S

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000013294
Gene: ENSMUSG00000013150
AA Change: N122S

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	6	119	3.7e-14	PFAM
low complexity region	169	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155038

SMART Domains

Protein: ENSMUSP00000122772
Gene: ENSMUSG00000013150

Domain	Start	End	E-Value	Type
Pfam:GFO_IDH_MocA	6	92	6.7e-10	PFAM

Meta Mutation Damage Score

0.1598

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
Birc6	T	A	17: 74,926,663 (GRCm39)		probably null	Het
Chil3	G	A	3: 106,067,815 (GRCm39)	Q117*	probably null	Het
Daglb	T	C	5: 143,458,889 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 118,089,578 (GRCm39)	R1163*	probably null	Het
Ftsj3	G	A	11: 106,144,502 (GRCm39)	A134V	probably benign	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Golga4	A	G	9: 118,380,946 (GRCm39)	E507G	probably benign	Het
Ids	C	A	X: 69,389,950 (GRCm39)	G506C	probably damaging	Het
Ifna15	G	T	4: 88,476,079 (GRCm39)	T135N	probably benign	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Kif24	A	G	4: 41,413,827 (GRCm39)		probably null	Het
L3hypdh	A	T	12: 72,124,198 (GRCm39)	D247E	probably damaging	Het
Lama2	A	T	10: 26,860,489 (GRCm39)	N2999K	probably damaging	Het
Lpcat2	C	A	8: 93,599,734 (GRCm39)	P234Q	probably benign	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Mcm9	A	C	10: 53,413,749 (GRCm39)	C444G	probably benign	Het
Mecom	G	A	3: 30,033,934 (GRCm39)	Q246*	probably null	Het
Mib1	A	G	18: 10,751,844 (GRCm39)	N242S	probably benign	Het
Or2a7	T	A	6: 43,151,160 (GRCm39)	M80K	probably damaging	Het
Or8g26	G	A	9: 39,095,864 (GRCm39)	C127Y	probably damaging	Het
P3h4	A	G	11: 100,304,452 (GRCm39)	F263S	probably damaging	Het
Pcsk1	T	C	13: 75,260,838 (GRCm39)	S354P	possibly damaging	Het
Pms2	T	A	5: 143,862,744 (GRCm39)	F617Y	probably damaging	Het
Prps2	T	A	X: 166,146,545 (GRCm39)	K176*	probably null	Het
Psmd13	G	T	7: 140,469,418 (GRCm39)		probably benign	Het
Pygl	G	A	12: 70,242,464 (GRCm39)	S573L	probably damaging	Het
Rapgef3	A	G	15: 97,646,529 (GRCm39)	V794A	probably benign	Het
Rasgrf2	C	A	13: 92,038,796 (GRCm39)	D1017Y	probably damaging	Het
Rb1cc1	A	G	1: 6,315,861 (GRCm39)	D555G	probably damaging	Het
Rptor	G	T	11: 119,562,171 (GRCm39)	E111D	probably damaging	Het
Sall4	T	C	2: 168,597,400 (GRCm39)	E480G	probably benign	Het
Scn4a	G	A	11: 106,239,683 (GRCm39)		probably null	Het
Scn8a	G	A	15: 100,838,014 (GRCm39)	A94T	probably benign	Het
Slc26a6	T	A	9: 108,738,982 (GRCm39)	C636S	probably benign	Het
Slc38a11	T	C	2: 65,188,460 (GRCm39)	K103R	probably benign	Het
Sned1	T	C	1: 93,202,381 (GRCm39)	L675P	probably benign	Het
Spsb1	T	C	4: 149,991,232 (GRCm39)	H112R	probably damaging	Het
Tmem132d	G	A	5: 128,061,405 (GRCm39)	T399M	possibly damaging	Het
Zfp939	A	G	7: 39,123,144 (GRCm39)		noncoding transcript	Het
Zfp951	T	C	5: 104,962,541 (GRCm39)	K342E	probably damaging	Het

Other mutations in Gfod2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1974:Gfod2	UTSW	8	106,444,142 (GRCm39)	missense	possibly damaging	0.69
R3150:Gfod2	UTSW	8	106,443,853 (GRCm39)	missense	probably benign
R4357:Gfod2	UTSW	8	106,444,177 (GRCm39)	missense	possibly damaging	0.93
R4359:Gfod2	UTSW	8	106,444,177 (GRCm39)	missense	possibly damaging	0.93
R4578:Gfod2	UTSW	8	106,454,878 (GRCm39)	start codon destroyed	probably null	0.77
R4985:Gfod2	UTSW	8	106,454,643 (GRCm39)	missense	probably damaging	1.00
R6913:Gfod2	UTSW	8	106,443,995 (GRCm39)	missense	possibly damaging	0.90
R7062:Gfod2	UTSW	8	106,449,508 (GRCm39)	intron	probably benign
R7851:Gfod2	UTSW	8	106,454,762 (GRCm39)	missense	probably benign	0.44
R8299:Gfod2	UTSW	8	106,454,794 (GRCm39)	missense	probably benign	0.00
R9087:Gfod2	UTSW	8	106,454,851 (GRCm39)	missense	probably damaging	1.00
R9183:Gfod2	UTSW	8	106,449,653 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AGGTACCCATGGTGTGCAGG -3'
(R):5'- TAAGCAACATTCCTAGGTCATCT -3'

Sequencing Primer
(F):5'- ATGGTGTGCAGGCCCCC -3'
(R):5'- CAGGCATATCTCTGAGTTCAAGGC -3'

Posted On

2015-06-24