Incidental Mutation 'R0908:Gykl1'
ID |
83409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gykl1
|
Ensembl Gene |
ENSMUSG00000053624 |
Gene Name |
glycerol kinase-like 1 |
Synonyms |
Gk-rs1 |
MMRRC Submission |
039066-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.359)
|
Stock # |
R0908 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
52826762-52828622 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to A
at 52828441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Lysine
at position 550
(*550K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066193]
|
AlphaFold |
Q8C635 |
Predicted Effect |
probably null
Transcript: ENSMUST00000066193
AA Change: *550K
|
SMART Domains |
Protein: ENSMUSP00000067598 Gene: ENSMUSG00000053624 AA Change: *550K
Domain | Start | End | E-Value | Type |
Pfam:FGGY_N
|
12 |
266 |
6.8e-90 |
PFAM |
Pfam:FGGY_C
|
275 |
467 |
4.2e-66 |
PFAM |
transmembrane domain
|
524 |
546 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,775,838 (GRCm39) |
F1676I |
probably damaging |
Het |
Afg2a |
T |
A |
3: 37,485,772 (GRCm39) |
|
probably null |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Atp8b3 |
T |
C |
10: 80,355,918 (GRCm39) |
T1265A |
probably benign |
Het |
Cep112 |
T |
C |
11: 108,555,323 (GRCm39) |
V679A |
possibly damaging |
Het |
Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
Dio2 |
A |
T |
12: 90,696,422 (GRCm39) |
C189S |
probably damaging |
Het |
Dmc1 |
A |
G |
15: 79,469,890 (GRCm39) |
L189P |
probably damaging |
Het |
Ehmt1 |
A |
G |
2: 24,694,900 (GRCm39) |
Y1016H |
probably damaging |
Het |
Gle1 |
T |
C |
2: 29,826,133 (GRCm39) |
S71P |
probably benign |
Het |
Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
Krt78 |
G |
A |
15: 101,859,336 (GRCm39) |
T287M |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mrpl1 |
A |
T |
5: 96,409,942 (GRCm39) |
I272L |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Or52e19 |
T |
C |
7: 102,959,780 (GRCm39) |
V284A |
possibly damaging |
Het |
Or8g23 |
T |
C |
9: 38,971,243 (GRCm39) |
T240A |
probably damaging |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Pde5a |
A |
T |
3: 122,572,650 (GRCm39) |
I344L |
probably benign |
Het |
Prl7c1 |
A |
G |
13: 27,957,717 (GRCm39) |
I241T |
possibly damaging |
Het |
Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
Scamp3 |
T |
C |
3: 89,086,746 (GRCm39) |
|
probably null |
Het |
Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
Spef2 |
T |
A |
15: 9,614,281 (GRCm39) |
|
probably null |
Het |
Txlnb |
A |
G |
10: 17,674,925 (GRCm39) |
N26S |
probably damaging |
Het |
Vmn1r11 |
G |
T |
6: 57,115,049 (GRCm39) |
V201L |
probably damaging |
Het |
|
Other mutations in Gykl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01348:Gykl1
|
APN |
18 |
52,827,808 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02694:Gykl1
|
APN |
18 |
52,827,257 (GRCm39) |
missense |
probably benign |
0.00 |
R0689:Gykl1
|
UTSW |
18 |
52,827,123 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0856:Gykl1
|
UTSW |
18 |
52,828,441 (GRCm39) |
makesense |
probably null |
|
R1428:Gykl1
|
UTSW |
18 |
52,827,833 (GRCm39) |
missense |
probably benign |
0.00 |
R2229:Gykl1
|
UTSW |
18 |
52,828,339 (GRCm39) |
missense |
probably benign |
0.00 |
R5307:Gykl1
|
UTSW |
18 |
52,827,723 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5696:Gykl1
|
UTSW |
18 |
52,827,267 (GRCm39) |
missense |
probably benign |
0.02 |
R6278:Gykl1
|
UTSW |
18 |
52,828,280 (GRCm39) |
missense |
probably benign |
0.06 |
R8804:Gykl1
|
UTSW |
18 |
52,827,608 (GRCm39) |
missense |
probably benign |
0.00 |
RF040:Gykl1
|
UTSW |
18 |
52,827,488 (GRCm39) |
missense |
probably benign |
0.06 |
RF041:Gykl1
|
UTSW |
18 |
52,827,488 (GRCm39) |
missense |
probably benign |
0.06 |
RF042:Gykl1
|
UTSW |
18 |
52,827,488 (GRCm39) |
missense |
probably benign |
0.06 |
RF044:Gykl1
|
UTSW |
18 |
52,827,488 (GRCm39) |
missense |
probably benign |
0.06 |
Z1088:Gykl1
|
UTSW |
18 |
52,827,237 (GRCm39) |
nonsense |
probably null |
|
Z1176:Gykl1
|
UTSW |
18 |
52,827,619 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Gykl1
|
UTSW |
18 |
52,828,204 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTCGTTACGCCACATGGAAGAAAG -3'
(R):5'- ACTTGGTCACCACCAGCGAAAATG -3'
Sequencing Primer
(F):5'- AGCTGTGCTGAAGTCAATGG -3'
(R):5'- CCAGCGAAAATGGTCAATATTTAAAG -3'
|
Posted On |
2013-11-08 |