Incidental Mutation 'IGL01669:Galk2'
| ID |
103399 |
| 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 # |
IGL01669
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
125701029-125826218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 125729807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 63
(Y63N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028636]
[ENSMUST00000094604]
[ENSMUST00000125084]
[ENSMUST00000131643]
[ENSMUST00000134337]
[ENSMUST00000134798]
|
| AlphaFold |
Q68FH4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028636
AA Change: Y45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
AA Change: Y45N
| 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 damaging
Transcript: ENSMUST00000094604
AA Change: Y56N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092186
Gene: ENSMUSG00000027207
AA Change: Y56N
| 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 damaging
Transcript: ENSMUST00000125084
AA Change: Y32N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119902
Gene: ENSMUSG00000027207
AA Change: Y32N
| 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 damaging
Transcript: ENSMUST00000134337
AA Change: Y67N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120728
Gene: ENSMUSG00000027207
AA Change: Y67N
| 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 |
probably damaging
Transcript: ENSMUST00000134798
AA Change: Y63N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118930
Gene: ENSMUSG00000027207
AA Change: Y63N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GalKase_gal_bdg
|
23 |
81 |
1.5e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140873
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl4 |
G |
T |
X: 141,126,184 (GRCm39) |
D313E |
probably damaging |
Het |
| Aifm3 |
A |
C |
16: 17,321,405 (GRCm39) |
K453T |
probably benign |
Het |
| Anks1b |
T |
C |
10: 90,733,100 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,229,840 (GRCm39) |
D1287G |
probably damaging |
Het |
| Bcl3 |
G |
A |
7: 19,546,416 (GRCm39) |
Q140* |
probably null |
Het |
| Bnipl |
T |
G |
3: 95,150,045 (GRCm39) |
R316S |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,275,958 (GRCm39) |
H1916Q |
probably benign |
Het |
| Ccdc171 |
C |
T |
4: 83,599,432 (GRCm39) |
A749V |
probably damaging |
Het |
| Ceacam18 |
G |
A |
7: 43,294,939 (GRCm39) |
G333E |
probably damaging |
Het |
| Cul7 |
G |
T |
17: 46,969,641 (GRCm39) |
M969I |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,228,360 (GRCm39) |
T144A |
probably benign |
Het |
| Cyp2c50 |
A |
T |
19: 40,086,495 (GRCm39) |
H294L |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,306 (GRCm39) |
K1081R |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,519,866 (GRCm39) |
K456R |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,313,389 (GRCm39) |
N186S |
possibly damaging |
Het |
| Fanci |
A |
T |
7: 79,098,925 (GRCm39) |
E1306D |
probably benign |
Het |
| Fbxl21 |
T |
A |
13: 56,675,522 (GRCm39) |
|
probably benign |
Het |
| Git2 |
T |
C |
5: 114,905,166 (GRCm39) |
D97G |
probably damaging |
Het |
| Gm8258 |
T |
A |
5: 104,923,940 (GRCm39) |
|
noncoding transcript |
Het |
| Irf4 |
G |
T |
13: 30,941,454 (GRCm39) |
S270I |
probably damaging |
Het |
| Itgb3 |
C |
A |
11: 104,524,216 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
C |
6: 146,081,727 (GRCm39) |
I2299R |
probably damaging |
Het |
| Lig4 |
T |
C |
8: 10,023,673 (GRCm39) |
I36V |
probably benign |
Het |
| Nedd9 |
A |
G |
13: 41,492,111 (GRCm39) |
V133A |
probably damaging |
Het |
| Nup133 |
A |
C |
8: 124,665,869 (GRCm39) |
Y185* |
probably null |
Het |
| Or51b6b |
A |
T |
7: 103,310,194 (GRCm39) |
F88I |
probably benign |
Het |
| Or5d14 |
T |
C |
2: 87,880,128 (GRCm39) |
Y280C |
possibly damaging |
Het |
| Or6c3 |
A |
G |
10: 129,309,080 (GRCm39) |
H173R |
probably damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,101,138 (GRCm39) |
T373S |
possibly damaging |
Het |
| Ppp1r8 |
T |
C |
4: 132,555,480 (GRCm39) |
E246G |
probably benign |
Het |
| Rmnd5b |
C |
T |
11: 51,518,727 (GRCm39) |
V89M |
probably damaging |
Het |
| Rnf123 |
T |
C |
9: 107,935,555 (GRCm39) |
I969V |
probably damaging |
Het |
| Ror2 |
A |
G |
13: 53,265,124 (GRCm39) |
I656T |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,411,356 (GRCm39) |
E503G |
probably benign |
Het |
| Smgc |
T |
A |
15: 91,744,882 (GRCm39) |
S381T |
possibly damaging |
Het |
| Tlr4 |
T |
G |
4: 66,759,504 (GRCm39) |
F766V |
possibly damaging |
Het |
| Tnc |
T |
C |
4: 63,918,938 (GRCm39) |
T1162A |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,315,476 (GRCm39) |
V156A |
probably damaging |
Het |
| Zdhhc5 |
A |
G |
2: 84,521,538 (GRCm39) |
Y352H |
probably damaging |
Het |
| Zfp646 |
A |
G |
7: 127,478,137 (GRCm39) |
T105A |
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 |
|
|
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 |
Incidental Mutation