Incidental Mutation 'IGL01652:Galk2'
ID |
102865 |
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 # |
IGL01652
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
125701029-125826218 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125738685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 171
(T171A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028636]
[ENSMUST00000094604]
[ENSMUST00000125084]
[ENSMUST00000131643]
[ENSMUST00000134337]
[ENSMUST00000134798]
|
AlphaFold |
Q68FH4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028636
AA Change: T149A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000028636 Gene: ENSMUSG00000027207 AA Change: T149A
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: T160A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000092186 Gene: ENSMUSG00000027207 AA Change: T160A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000110454
|
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 |
probably benign
Transcript: ENSMUST00000131643
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134337
AA Change: T171A
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000120728 Gene: ENSMUSG00000027207 AA Change: T171A
Domain | Start | End | E-Value | Type |
Pfam:GalKase_gal_bdg
|
34 |
85 |
4.9e-26 |
PFAM |
Pfam:GHMP_kinases_N
|
142 |
182 |
1.5e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140873
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134798
|
SMART Domains |
Protein: ENSMUSP00000118930 Gene: ENSMUSG00000027207
Domain | Start | End | E-Value | Type |
Pfam:GalKase_gal_bdg
|
23 |
81 |
1.5e-21 |
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alk |
A |
T |
17: 72,910,526 (GRCm39) |
V60E |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,726,690 (GRCm39) |
K868R |
probably benign |
Het |
Ankrd13a |
A |
T |
5: 114,929,397 (GRCm39) |
D158V |
probably damaging |
Het |
Arhgap12 |
G |
T |
18: 6,061,853 (GRCm39) |
N380K |
possibly damaging |
Het |
Cpn1 |
A |
T |
19: 43,974,533 (GRCm39) |
F65L |
possibly damaging |
Het |
Dlec1 |
T |
A |
9: 118,972,975 (GRCm39) |
H1496Q |
probably benign |
Het |
Dock1 |
C |
T |
7: 134,379,226 (GRCm39) |
|
probably benign |
Het |
Dok1 |
T |
C |
6: 83,009,543 (GRCm39) |
N143D |
probably damaging |
Het |
Fcmr |
C |
T |
1: 130,806,244 (GRCm39) |
P363L |
probably benign |
Het |
Hrh3 |
G |
T |
2: 179,742,896 (GRCm39) |
P244Q |
possibly damaging |
Het |
Icam1 |
T |
C |
9: 20,930,472 (GRCm39) |
Y109H |
probably damaging |
Het |
Nup93 |
T |
C |
8: 95,023,187 (GRCm39) |
V132A |
possibly damaging |
Het |
Or4c113 |
A |
T |
2: 88,884,913 (GRCm39) |
Y286N |
probably damaging |
Het |
Pla2g4f |
T |
C |
2: 120,132,716 (GRCm39) |
I707V |
possibly damaging |
Het |
Rpgrip1 |
G |
A |
14: 52,382,949 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
A |
T |
7: 110,046,327 (GRCm39) |
V290E |
probably damaging |
Het |
Stard3 |
T |
G |
11: 98,269,559 (GRCm39) |
|
probably benign |
Het |
Sufu |
T |
C |
19: 46,464,059 (GRCm39) |
Y424H |
probably damaging |
Het |
Trim35 |
T |
G |
14: 66,546,250 (GRCm39) |
V339G |
probably damaging |
Het |
Vmn1r80 |
A |
G |
7: 11,927,063 (GRCm39) |
I58V |
probably benign |
Het |
|
Other mutations in Galk2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2014-01-21 |