Incidental Mutation 'R2370:Gfod1'
ID |
247506 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gfod1
|
Ensembl Gene |
ENSMUSG00000051335 |
Gene Name |
glucose-fructose oxidoreductase domain containing 1 |
Synonyms |
|
MMRRC Submission |
040350-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2370 (G1)
|
Quality Score |
174 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
43348721-43457648 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43354621 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 118
(M118T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055341]
|
AlphaFold |
Q3UHD2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055341
AA Change: M118T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000062662 Gene: ENSMUSG00000051335 AA Change: M118T
Domain | Start | End | E-Value | Type |
Pfam:GFO_IDH_MocA
|
4 |
118 |
7.8e-13 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,206,185 (GRCm39) |
T162A |
possibly damaging |
Het |
Adamts9 |
T |
A |
6: 92,837,184 (GRCm39) |
D578V |
probably damaging |
Het |
Atp6v1a |
T |
C |
16: 43,927,403 (GRCm39) |
T295A |
probably benign |
Het |
Brinp1 |
A |
G |
4: 68,681,184 (GRCm39) |
S449P |
probably damaging |
Het |
Ccdc40 |
A |
G |
11: 119,153,943 (GRCm39) |
T1072A |
probably benign |
Het |
Chil4 |
C |
A |
3: 106,121,616 (GRCm39) |
E78* |
probably null |
Het |
Cul7 |
A |
G |
17: 46,972,567 (GRCm39) |
Y1250C |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,829,554 (GRCm39) |
D1120G |
probably damaging |
Het |
Ints5 |
A |
G |
19: 8,874,143 (GRCm39) |
T701A |
probably benign |
Het |
Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
Mast4 |
T |
A |
13: 102,910,695 (GRCm39) |
E457D |
probably damaging |
Het |
Mettl4 |
T |
C |
17: 95,040,576 (GRCm39) |
D404G |
probably damaging |
Het |
Mgat4a |
A |
G |
1: 37,503,614 (GRCm39) |
F58L |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,146,454 (GRCm39) |
K1476E |
probably damaging |
Het |
Myl7 |
T |
C |
11: 5,846,684 (GRCm39) |
E175G |
probably damaging |
Het |
Myo18a |
A |
G |
11: 77,668,596 (GRCm39) |
E152G |
probably benign |
Het |
Ncan |
G |
A |
8: 70,565,463 (GRCm39) |
T187I |
probably benign |
Het |
Nfatc3 |
A |
G |
8: 106,835,087 (GRCm39) |
Y803C |
probably damaging |
Het |
Nlrp4f |
T |
C |
13: 65,338,660 (GRCm39) |
Y659C |
probably damaging |
Het |
Noxred1 |
T |
C |
12: 87,273,820 (GRCm39) |
T74A |
probably benign |
Het |
Ntrk2 |
A |
T |
13: 59,202,248 (GRCm39) |
M619L |
probably benign |
Het |
Or5w18 |
A |
T |
2: 87,633,159 (GRCm39) |
N142I |
probably benign |
Het |
Orc4 |
A |
G |
2: 48,823,111 (GRCm39) |
V120A |
probably benign |
Het |
Polq |
T |
A |
16: 36,894,301 (GRCm39) |
Y2037N |
probably damaging |
Het |
Rimbp2 |
A |
G |
5: 128,880,908 (GRCm39) |
C160R |
probably damaging |
Het |
Rps6ka4 |
T |
C |
19: 6,807,468 (GRCm39) |
S721G |
possibly damaging |
Het |
Skap2 |
C |
T |
6: 51,898,310 (GRCm39) |
R140Q |
probably damaging |
Het |
Srprb |
C |
T |
9: 103,074,755 (GRCm39) |
R838H |
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 |
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 |
R6573:Gfod1
|
UTSW |
13 |
43,353,841 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- AATGATGTAGGTGCCCACG -3'
(R):5'- TGGAGAATTGAGAGGGCTCC -3'
Sequencing Primer
(F):5'- ATTTCTTGCCCAGCAGAC -3'
(R):5'- GCTCCTCTAGCGGGTACTC -3'
|
Posted On |
2014-11-11 |