Incidental Mutation 'R1307:Gk2'
| ID |
157825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gk2
|
| Ensembl Gene |
ENSMUSG00000050553 |
| Gene Name |
glycerol kinase 2 |
| Synonyms |
Gk-rs2 |
| MMRRC Submission |
039373-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
97603001-97604880 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97603268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 523
(D523E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059657]
|
| AlphaFold |
Q9WU65 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059657
AA Change: D523E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000052226
Gene: ENSMUSG00000050553
AA Change: D523E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FGGY_N
|
12 |
266 |
2.3e-82 |
PFAM |
|
Pfam:FGGY_C
|
275 |
467 |
5.8e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181724
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 91.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc1 |
A |
T |
10: 59,848,321 (GRCm39) |
I83L |
probably benign |
Het |
| Bcl2a1b |
T |
C |
9: 89,081,543 (GRCm39) |
V44A |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,186,271 (GRCm39) |
D1727G |
possibly damaging |
Het |
| Cabp1 |
A |
G |
5: 115,310,965 (GRCm39) |
F294L |
probably damaging |
Het |
| Coq8b |
T |
A |
7: 26,950,016 (GRCm39) |
M365K |
probably damaging |
Het |
| Havcr1 |
C |
T |
11: 46,647,097 (GRCm39) |
T177I |
probably damaging |
Het |
| Kdm4a |
T |
C |
4: 118,032,839 (GRCm39) |
T76A |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,946,028 (GRCm39) |
I804F |
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,336,314 (GRCm39) |
N876S |
probably benign |
Het |
| Polr3f |
T |
C |
2: 144,375,113 (GRCm39) |
V95A |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,163,895 (GRCm39) |
V389A |
probably benign |
Het |
| Rhof |
T |
C |
5: 123,258,378 (GRCm39) |
E151G |
probably damaging |
Het |
| Slc25a28 |
T |
C |
19: 43,655,470 (GRCm39) |
N135S |
probably benign |
Het |
| Sphk1 |
G |
A |
11: 116,426,928 (GRCm39) |
V295I |
probably benign |
Het |
| Sv2b |
G |
T |
7: 74,856,182 (GRCm39) |
T36K |
probably damaging |
Het |
| Sybu |
T |
C |
15: 44,538,786 (GRCm39) |
E291G |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,927,096 (GRCm39) |
E810G |
probably damaging |
Het |
| Uba52 |
T |
C |
8: 70,961,166 (GRCm39) |
H68R |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,036,335 (GRCm39) |
N552S |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,090,164 (GRCm39) |
C416R |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,184,037 (GRCm39) |
V1447A |
probably damaging |
Het |
| Zfp985 |
C |
T |
4: 147,667,704 (GRCm39) |
L191F |
probably benign |
Het |
|
| Other mutations in Gk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01519:Gk2
|
APN |
5 |
97,603,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0967:Gk2
|
UTSW |
5 |
97,604,155 (GRCm39) |
missense |
probably benign |
|
|
R2111:Gk2
|
UTSW |
5 |
97,604,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3939:Gk2
|
UTSW |
5 |
97,603,211 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4646:Gk2
|
UTSW |
5 |
97,604,056 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4648:Gk2
|
UTSW |
5 |
97,603,579 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4718:Gk2
|
UTSW |
5 |
97,603,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6139:Gk2
|
UTSW |
5 |
97,604,139 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6792:Gk2
|
UTSW |
5 |
97,603,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7078:Gk2
|
UTSW |
5 |
97,604,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7088:Gk2
|
UTSW |
5 |
97,603,534 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7388:Gk2
|
UTSW |
5 |
97,604,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Gk2
|
UTSW |
5 |
97,604,257 (GRCm39) |
missense |
probably benign |
|
|
R8766:Gk2
|
UTSW |
5 |
97,604,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8878:Gk2
|
UTSW |
5 |
97,604,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:Gk2
|
UTSW |
5 |
97,604,508 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTTCCTGTAAGCAAGTGGC -3'
(R):5'- ACAGGCAGATATTCTGCACATTCCG -3'
Sequencing Primer
(F):5'- ACATTGCAAGTCCGTGGT -3'
(R):5'- AGTCTGTCATGCCTGAAACG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation