Incidental Mutation 'R0856:Gykl1'
| ID |
82734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gykl1
|
| Ensembl Gene |
ENSMUSG00000053624 |
| Gene Name |
glycerol kinase-like 1 |
| Synonyms |
Gk-rs1 |
| MMRRC Submission |
039035-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.359)
|
| Stock # |
R0856 (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: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.6%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,154,262 (GRCm39) |
S101R |
probably benign |
Het |
| Arhgap32 |
C |
A |
9: 32,171,516 (GRCm39) |
P1432Q |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,487,647 (GRCm39) |
V1134A |
probably damaging |
Het |
| Crtc3 |
A |
T |
7: 80,245,372 (GRCm39) |
Y418N |
probably damaging |
Het |
| Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
| Defb39 |
T |
A |
8: 19,102,982 (GRCm39) |
T38S |
possibly damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
| Kcnip4 |
A |
G |
5: 48,576,552 (GRCm39) |
|
probably null |
Het |
| Kif20a |
T |
C |
18: 34,764,271 (GRCm39) |
S666P |
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
| Men1 |
A |
G |
19: 6,385,888 (GRCm39) |
Y133C |
probably damaging |
Het |
| Mtnr1a |
A |
G |
8: 45,540,870 (GRCm39) |
E277G |
possibly damaging |
Het |
| Numa1 |
C |
A |
7: 101,648,155 (GRCm39) |
Q629K |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,345 (GRCm39) |
S118P |
probably damaging |
Het |
| P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
| Prl7c1 |
A |
G |
13: 27,957,717 (GRCm39) |
I241T |
possibly damaging |
Het |
| Prr35 |
T |
C |
17: 26,167,001 (GRCm39) |
S179G |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
| Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Upf2 |
A |
G |
2: 5,962,463 (GRCm39) |
D55G |
unknown |
Het |
| Vit |
G |
T |
17: 78,927,086 (GRCm39) |
V344L |
possibly damaging |
Het |
| Vps26a |
A |
C |
10: 62,304,189 (GRCm39) |
V176G |
possibly 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 |
|
R0908: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'- AGGTCGTTACGCCACATGGAAG -3'
(R):5'- ACTTGGTCACCACCAGCGAAAATG -3'
Sequencing Primer
(F):5'- TTACGCCACATGGAAGAAAGC -3'
(R):5'- CCAGCGAAAATGGTCAATATTTAAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation