Incidental Mutation 'IGL01831:Galk2'
| ID |
154786 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galk2
|
| Ensembl Gene |
ENSMUSG00000027207 |
| Gene Name |
galactokinase 2 |
| Synonyms |
2810017M24Rik, Gk2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01831
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
125701029-125826218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 125817277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 344
(N344K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028636]
[ENSMUST00000094604]
|
| AlphaFold |
Q68FH4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028636
AA Change: N344K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
AA Change: N344K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GalKase_gal_bdg
|
13 |
62 |
3.8e-26 |
PFAM |
|
Pfam:GHMP_kinases_N
|
120 |
187 |
1e-15 |
PFAM |
|
Pfam:GHMP_kinases_C
|
333 |
419 |
6.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094604
AA Change: N355K
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000092186
Gene: ENSMUSG00000027207
AA Change: N355K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GalKase_gal_bdg
|
24 |
73 |
3.2e-25 |
PFAM |
|
Pfam:GHMP_kinases_N
|
131 |
198 |
4.8e-15 |
PFAM |
|
Pfam:GHMP_kinases_C
|
344 |
430 |
3.5e-14 |
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 gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
G |
T |
4: 129,903,187 (GRCm39) |
D596Y |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,752,807 (GRCm39) |
R626G |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,671,833 (GRCm39) |
F394S |
probably damaging |
Het |
| Gm20507 |
T |
C |
17: 33,861,038 (GRCm39) |
|
probably benign |
Het |
| Igkv2-112 |
A |
T |
6: 68,197,481 (GRCm39) |
Y50F |
possibly damaging |
Het |
| Itgb1bp1 |
A |
T |
12: 21,329,469 (GRCm39) |
F2I |
unknown |
Het |
| Klhl6 |
C |
T |
16: 19,772,235 (GRCm39) |
C370Y |
probably damaging |
Het |
| Or56b1 |
T |
G |
7: 104,285,267 (GRCm39) |
Y129D |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,709,900 (GRCm39) |
H242R |
probably damaging |
Het |
| Pja2 |
A |
T |
17: 64,616,402 (GRCm39) |
H164Q |
probably benign |
Het |
| Plau |
T |
A |
14: 20,887,838 (GRCm39) |
|
probably benign |
Het |
| Snx4 |
C |
T |
16: 33,104,792 (GRCm39) |
R247* |
probably null |
Het |
|
| Other mutations in Galk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01652:Galk2
|
APN |
2 |
125,738,685 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01663:Galk2
|
APN |
2 |
125,825,099 (GRCm39) |
missense |
probably benign |
|
|
IGL01669:Galk2
|
APN |
2 |
125,729,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02055:Galk2
|
APN |
2 |
125,773,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02298:Galk2
|
APN |
2 |
125,701,290 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03093:Galk2
|
APN |
2 |
125,771,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0305:Galk2
|
UTSW |
2 |
125,729,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Galk2
|
UTSW |
2 |
125,773,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1870:Galk2
|
UTSW |
2 |
125,817,183 (GRCm39) |
missense |
probably benign |
|
|
R2327:Galk2
|
UTSW |
2 |
125,817,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2354:Galk2
|
UTSW |
2 |
125,773,193 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3962:Galk2
|
UTSW |
2 |
125,735,293 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4870:Galk2
|
UTSW |
2 |
125,771,557 (GRCm39) |
nonsense |
probably null |
|
|
R5034:Galk2
|
UTSW |
2 |
125,771,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5427:Galk2
|
UTSW |
2 |
125,788,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5619:Galk2
|
UTSW |
2 |
125,817,317 (GRCm39) |
nonsense |
probably null |
|
|
R6145:Galk2
|
UTSW |
2 |
125,788,762 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6173:Galk2
|
UTSW |
2 |
125,701,137 (GRCm39) |
start gained |
probably benign |
|
|
R6287:Galk2
|
UTSW |
2 |
125,712,268 (GRCm39) |
intron |
probably benign |
|
|
R7174:Galk2
|
UTSW |
2 |
125,738,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Galk2
|
UTSW |
2 |
125,729,781 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7480:Galk2
|
UTSW |
2 |
125,788,845 (GRCm39) |
missense |
probably benign |
|
|
R7519:Galk2
|
UTSW |
2 |
125,825,172 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7815:Galk2
|
UTSW |
2 |
125,817,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Galk2
|
UTSW |
2 |
125,773,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8323:Galk2
|
UTSW |
2 |
125,708,298 (GRCm39) |
missense |
probably benign |
|
|
R8478:Galk2
|
UTSW |
2 |
125,771,505 (GRCm39) |
nonsense |
probably null |
|
|
R9292:Galk2
|
UTSW |
2 |
125,817,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9574:Galk2
|
UTSW |
2 |
125,824,979 (GRCm39) |
missense |
probably benign |
|
|
R9610:Galk2
|
UTSW |
2 |
125,817,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Galk2
|
UTSW |
2 |
125,817,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation