Incidental Mutation 'IGL01612:Glyctk'
| ID |
92170 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glyctk
|
| Ensembl Gene |
ENSMUSG00000020258 |
| Gene Name |
glycerate kinase |
| Synonyms |
6230410P16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01612
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
106030056-106035337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106032471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 514
(D514G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036382]
[ENSMUST00000112543]
[ENSMUST00000159809]
[ENSMUST00000217417]
[ENSMUST00000162562]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036382
AA Change: D514G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047761
Gene: ENSMUSG00000020258
AA Change: D514G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4147
|
36 |
291 |
1.9e-84 |
PFAM |
|
low complexity region
|
363 |
383 |
N/A |
INTRINSIC |
|
Pfam:MOFRL
|
401 |
514 |
3.7e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083473
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112543
AA Change: D514G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108162
Gene: ENSMUSG00000020258
AA Change: D514G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4147
|
37 |
290 |
1.6e-86 |
PFAM |
|
low complexity region
|
363 |
383 |
N/A |
INTRINSIC |
|
Pfam:MOFRL
|
402 |
514 |
7.6e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150953
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159809
|
| SMART Domains |
Protein: ENSMUSP00000125369
Gene: ENSMUSG00000020258
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4147
|
36 |
92 |
8.6e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160569
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217417
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162562
|
| SMART Domains |
Protein: ENSMUSP00000125392
Gene: ENSMUSG00000020258
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4147
|
36 |
124 |
6.4e-17 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,988 (GRCm39) |
T1326A |
possibly damaging |
Het |
| Afg3l1 |
C |
T |
8: 124,221,592 (GRCm39) |
R484C |
probably benign |
Het |
| Atg2a |
C |
A |
19: 6,302,514 (GRCm39) |
Q946K |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,921,895 (GRCm39) |
Y731H |
probably benign |
Het |
| Cdk15 |
A |
G |
1: 59,328,932 (GRCm39) |
D282G |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 31,005,164 (GRCm39) |
S1073P |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,355,889 (GRCm39) |
|
probably benign |
Het |
| Evi2a |
T |
A |
11: 79,417,978 (GRCm39) |
R211W |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,661,168 (GRCm39) |
I372F |
probably benign |
Het |
| Gmnc |
G |
A |
16: 26,779,069 (GRCm39) |
Q313* |
probably null |
Het |
| Grik1 |
T |
C |
16: 87,743,623 (GRCm39) |
T520A |
probably damaging |
Het |
| Gtsf2 |
A |
T |
15: 103,353,340 (GRCm39) |
C9S |
probably damaging |
Het |
| Ift80 |
T |
G |
3: 68,870,996 (GRCm39) |
N200T |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,742,047 (GRCm39) |
S1771P |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,683,484 (GRCm39) |
T2769A |
possibly damaging |
Het |
| Lrfn2 |
G |
T |
17: 49,377,425 (GRCm39) |
V169L |
possibly damaging |
Het |
| Mei1 |
G |
A |
15: 81,973,753 (GRCm39) |
R80H |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,473,746 (GRCm39) |
V31E |
probably damaging |
Het |
| Ncapd2 |
G |
T |
6: 125,154,835 (GRCm39) |
P546T |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,829,929 (GRCm39) |
V212A |
probably damaging |
Het |
| Pan3 |
T |
C |
5: 147,390,052 (GRCm39) |
|
probably benign |
Het |
| Rab3b |
T |
A |
4: 108,781,223 (GRCm39) |
|
probably null |
Het |
| Rabl2 |
T |
C |
15: 89,467,615 (GRCm39) |
K119E |
probably benign |
Het |
| Reln |
A |
G |
5: 22,101,928 (GRCm39) |
V3334A |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,819,601 (GRCm39) |
|
probably null |
Het |
| Rhod |
T |
C |
19: 4,476,247 (GRCm39) |
Y168C |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,733,071 (GRCm39) |
I13T |
probably damaging |
Het |
| Sat2 |
T |
C |
11: 69,513,789 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
T |
9: 119,315,091 (GRCm39) |
D1872E |
possibly damaging |
Het |
| Sh2b2 |
T |
G |
5: 136,260,656 (GRCm39) |
I187L |
probably benign |
Het |
| Slit3 |
G |
A |
11: 35,591,211 (GRCm39) |
G1341D |
possibly damaging |
Het |
| Tmed11 |
A |
T |
5: 108,927,750 (GRCm39) |
S95T |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,733 (GRCm39) |
V176A |
possibly damaging |
Het |
| Trim12c |
A |
T |
7: 103,997,422 (GRCm39) |
S45T |
possibly damaging |
Het |
| Ube4b |
C |
A |
4: 149,468,275 (GRCm39) |
R167L |
probably damaging |
Het |
| Zfp335 |
A |
T |
2: 164,752,540 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Glyctk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02307:Glyctk
|
APN |
9 |
106,032,963 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02581:Glyctk
|
APN |
9 |
106,034,980 (GRCm39) |
missense |
probably benign |
|
|
R0106:Glyctk
|
UTSW |
9 |
106,033,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Glyctk
|
UTSW |
9 |
106,034,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Glyctk
|
UTSW |
9 |
106,034,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1652:Glyctk
|
UTSW |
9 |
106,034,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1859:Glyctk
|
UTSW |
9 |
106,034,731 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1870:Glyctk
|
UTSW |
9 |
106,032,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Glyctk
|
UTSW |
9 |
106,035,064 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R3875:Glyctk
|
UTSW |
9 |
106,034,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4167:Glyctk
|
UTSW |
9 |
106,034,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4407:Glyctk
|
UTSW |
9 |
106,034,307 (GRCm39) |
intron |
probably benign |
|
|
R5860:Glyctk
|
UTSW |
9 |
106,032,906 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6167:Glyctk
|
UTSW |
9 |
106,033,691 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6240:Glyctk
|
UTSW |
9 |
106,033,461 (GRCm39) |
splice site |
probably null |
|
|
R7253:Glyctk
|
UTSW |
9 |
106,032,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Glyctk
|
UTSW |
9 |
106,033,638 (GRCm39) |
missense |
unknown |
|
|
R8128:Glyctk
|
UTSW |
9 |
106,032,501 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8161:Glyctk
|
UTSW |
9 |
106,034,892 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8407:Glyctk
|
UTSW |
9 |
106,033,141 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9077:Glyctk
|
UTSW |
9 |
106,032,522 (GRCm39) |
missense |
probably benign |
|
|
X0004:Glyctk
|
UTSW |
9 |
106,032,918 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation