Incidental Mutation 'R4167:Glyctk'
| ID |
320627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glyctk
|
| Ensembl Gene |
ENSMUSG00000020258 |
| Gene Name |
glycerate kinase |
| Synonyms |
6230410P16Rik |
| MMRRC Submission |
041008-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106030056-106035337 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 106034961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 35
(A35E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036382]
[ENSMUST00000112543]
[ENSMUST00000159809]
[ENSMUST00000162562]
[ENSMUST00000217417]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036382
AA Change: A35E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000047761
Gene: ENSMUSG00000020258
AA Change: A35E
| 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 benign
Transcript: ENSMUST00000112543
AA Change: A35E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108162
Gene: ENSMUSG00000020258
AA Change: A35E
| 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
AA Change: A35E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000125369
Gene: ENSMUSG00000020258
AA Change: A35E
| 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: ENSMUST00000162562
AA Change: A35E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000125392
Gene: ENSMUSG00000020258
AA Change: A35E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4147
|
36 |
124 |
6.4e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217417
|
| Meta Mutation Damage Score |
0.0762 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
94% (31/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Casp6 |
A |
G |
3: 129,706,993 (GRCm39) |
H201R |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,344,362 (GRCm39) |
L59P |
probably benign |
Het |
| Dcp2 |
T |
A |
18: 44,529,034 (GRCm39) |
Y50N |
probably damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fam78b |
T |
C |
1: 166,829,301 (GRCm39) |
V51A |
possibly damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,236,030 (GRCm39) |
E254G |
probably damaging |
Het |
| Kcng1 |
T |
A |
2: 168,104,617 (GRCm39) |
S410C |
probably damaging |
Het |
| Krt74 |
A |
G |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp12 |
T |
C |
15: 39,748,409 (GRCm39) |
T70A |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
| Mindy4 |
G |
A |
6: 55,201,331 (GRCm39) |
G339S |
possibly damaging |
Het |
| Naip1 |
C |
T |
13: 100,580,794 (GRCm39) |
G151D |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,252,415 (GRCm39) |
V275I |
probably benign |
Het |
| Nppb |
T |
A |
4: 148,071,431 (GRCm39) |
L121* |
probably null |
Het |
| Oog2 |
A |
T |
4: 143,922,782 (GRCm39) |
Q349L |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5v1b |
T |
C |
17: 37,840,897 (GRCm39) |
S10P |
possibly damaging |
Het |
| Pcdhgb8 |
T |
G |
18: 37,895,596 (GRCm39) |
V222G |
possibly damaging |
Het |
| Plcd3 |
A |
T |
11: 102,969,290 (GRCm39) |
C226S |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,570,196 (GRCm39) |
E125G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,069 (GRCm39) |
E2426G |
probably damaging |
Het |
| Rraga |
T |
C |
4: 86,494,304 (GRCm39) |
V50A |
possibly damaging |
Het |
| Scmh1 |
T |
C |
4: 120,386,473 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,110,952 (GRCm39) |
Y590C |
probably damaging |
Het |
| Snx20 |
C |
T |
8: 89,354,013 (GRCm39) |
R239Q |
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,670,732 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
|
| Other mutations in Glyctk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01612:Glyctk
|
APN |
9 |
106,032,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGATCACACCCTGCACAAGATG -3'
(R):5'- TTCAGGTTATGGAGTCCGCC -3'
Sequencing Primer
(F):5'- AGCTGCCATGCCCAGTAC -3'
(R):5'- TTATGGAGTCCGCCAGTCCTG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation