Incidental Mutation 'IGL02055:Galk2'
| ID |
185212 |
| 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 # |
IGL02055
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
125701029-125826218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125773324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 252
(K252R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028636]
[ENSMUST00000094604]
[ENSMUST00000131643]
[ENSMUST00000134337]
|
| AlphaFold |
Q68FH4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028636
AA Change: K241R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
AA Change: K241R
| 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: K252R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000092186
Gene: ENSMUSG00000027207
AA Change: K252R
| 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: ENSMUST00000131643
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134337
|
| SMART Domains |
Protein: ENSMUSP00000120728
Gene: ENSMUSG00000027207
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1b1 |
T |
A |
11: 4,974,452 (GRCm39) |
C353* |
probably null |
Het |
| Asl |
C |
T |
5: 130,041,891 (GRCm39) |
G309R |
possibly damaging |
Het |
| B4galnt4 |
T |
C |
7: 140,650,731 (GRCm39) |
F835S |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,177,457 (GRCm39) |
T1921A |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,539 (GRCm39) |
|
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,719,447 (GRCm39) |
P116T |
possibly damaging |
Het |
| Clcn1 |
T |
G |
6: 42,284,489 (GRCm39) |
M609R |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 16,119,015 (GRCm39) |
I1858T |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,353,385 (GRCm39) |
I95V |
probably damaging |
Het |
| Gbp2 |
A |
T |
3: 142,337,991 (GRCm39) |
N369I |
probably benign |
Het |
| Glis2 |
G |
T |
16: 4,431,972 (GRCm39) |
|
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,088,562 (GRCm39) |
V388A |
possibly damaging |
Het |
| Klhl1 |
A |
G |
14: 96,517,539 (GRCm39) |
F379S |
possibly damaging |
Het |
| Or5b12 |
T |
A |
19: 12,896,930 (GRCm39) |
I248F |
possibly damaging |
Het |
| Pigm |
C |
T |
1: 172,204,732 (GRCm39) |
S156L |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,277,703 (GRCm39) |
|
probably null |
Het |
| Ppp6r3 |
A |
G |
19: 3,571,781 (GRCm39) |
F123L |
probably benign |
Het |
| Pum1 |
C |
A |
4: 130,481,365 (GRCm39) |
S637R |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,422,745 (GRCm39) |
S112P |
probably damaging |
Het |
| Serpina3k |
A |
T |
12: 104,307,295 (GRCm39) |
K176* |
probably null |
Het |
| Smad4 |
A |
G |
18: 73,774,999 (GRCm39) |
|
probably benign |
Het |
| Tas2r140 |
T |
A |
6: 40,468,493 (GRCm39) |
F108I |
probably damaging |
Het |
| Tbc1d20 |
G |
A |
2: 152,149,978 (GRCm39) |
R73H |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,817,673 (GRCm39) |
|
probably null |
Het |
| Tmem86b |
A |
C |
7: 4,631,762 (GRCm39) |
|
probably benign |
Het |
| Trav6-4 |
G |
A |
14: 53,692,237 (GRCm39) |
V115I |
probably benign |
Het |
| Trim37 |
T |
G |
11: 87,057,475 (GRCm39) |
V303G |
probably benign |
Het |
| Trpc7 |
C |
T |
13: 57,035,357 (GRCm39) |
R192Q |
probably benign |
Het |
| Ush1g |
T |
C |
11: 115,208,925 (GRCm39) |
D423G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,113,048 (GRCm39) |
D252V |
possibly damaging |
Het |
| Vmn1r181 |
T |
G |
7: 23,683,978 (GRCm39) |
L148V |
probably damaging |
Het |
| Vmn1r42 |
T |
C |
6: 89,822,571 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,450,763 (GRCm39) |
H216Q |
probably benign |
Het |
| Zfp39 |
A |
G |
11: 58,782,156 (GRCm39) |
V202A |
probably benign |
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 |
|
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 |
2014-05-07 |
Incidental Mutation