Incidental Mutation 'IGL02298:Galk2'
| ID |
290220 |
| 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 # |
IGL02298
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
125701029-125826218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125701290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 5
(S5P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028636
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028635]
[ENSMUST00000028636]
[ENSMUST00000110462]
[ENSMUST00000110463]
[ENSMUST00000125084]
|
| AlphaFold |
Q68FH4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028635
|
| SMART Domains |
Protein: ENSMUSP00000028635
Gene: ENSMUSG00000027206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
|
PAM
|
169 |
343 |
1.08e-64 |
SMART |
|
PINT
|
345 |
427 |
4.24e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028636
AA Change: S5P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
AA Change: S5P
| 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: ENSMUST00000110462
|
| SMART Domains |
Protein: ENSMUSP00000106089
Gene: ENSMUSG00000027206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
|
PAM
|
140 |
302 |
1.59e-30 |
SMART |
|
PINT
|
304 |
386 |
4.24e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110463
|
| SMART Domains |
Protein: ENSMUSP00000106090
Gene: ENSMUSG00000027206
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
|
PAM
|
176 |
350 |
1.08e-64 |
SMART |
|
PINT
|
352 |
434 |
4.24e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125084
|
| SMART Domains |
Protein: ENSMUSP00000119902
Gene: ENSMUSG00000027207
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GalKase_gal_bdg
|
1 |
50 |
7.7e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152683
|
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,580,044 (GRCm39) |
S2053P |
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,263,633 (GRCm39) |
E125K |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,225,175 (GRCm39) |
D24V |
probably damaging |
Het |
| Clec2m |
T |
A |
6: 129,308,527 (GRCm39) |
M1L |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,607,322 (GRCm39) |
E2638K |
probably damaging |
Het |
| Fbxw5 |
G |
A |
2: 25,394,456 (GRCm39) |
W143* |
probably null |
Het |
| Gtf2h2 |
A |
G |
13: 100,617,547 (GRCm39) |
V205A |
probably damaging |
Het |
| Helb |
C |
A |
10: 119,937,431 (GRCm39) |
Q604H |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,440,783 (GRCm39) |
|
probably null |
Het |
| Map7d1 |
T |
C |
4: 126,127,714 (GRCm39) |
E675G |
unknown |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Shc4 |
T |
C |
2: 125,491,074 (GRCm39) |
H488R |
probably damaging |
Het |
| Speer1d |
T |
G |
5: 11,307,158 (GRCm39) |
L12R |
probably damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,309,364 (GRCm39) |
|
probably null |
Het |
| Zfp451 |
A |
T |
1: 33,812,002 (GRCm39) |
N904K |
probably damaging |
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 |
|
IGL01831:Galk2
|
APN |
2 |
125,817,277 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02055:Galk2
|
APN |
2 |
125,773,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2015-04-16 |
Incidental Mutation