Incidental Mutation 'R6287:Galk2'
| ID |
526469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galk2
|
| Ensembl Gene |
ENSMUSG00000027207 |
| Gene Name |
galactokinase 2 |
| Synonyms |
2810017M24Rik, Gk2 |
| MMRRC Submission |
044457-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
125701029-125826218 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 125712268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028636]
[ENSMUST00000094604]
[ENSMUST00000125084]
[ENSMUST00000131643]
[ENSMUST00000134337]
[ENSMUST00000134798]
|
| AlphaFold |
Q68FH4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028636
|
| SMART Domains |
Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
| 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
|
| SMART Domains |
Protein: ENSMUSP00000092186
Gene: ENSMUSG00000027207
| 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 |
unknown
Transcript: ENSMUST00000131643
AA Change: I26L
|
| 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 |
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140873
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
94% (34/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
A |
G |
8: 89,037,736 (GRCm39) |
N268S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,992,367 (GRCm39) |
H4550Q |
probably benign |
Het |
| C330018D20Rik |
A |
C |
18: 57,095,407 (GRCm39) |
|
probably null |
Het |
| Camta2 |
G |
C |
11: 70,572,295 (GRCm39) |
Q310E |
probably damaging |
Het |
| Caskin1 |
A |
T |
17: 24,715,683 (GRCm39) |
K149M |
probably damaging |
Het |
| Chml |
T |
C |
1: 175,514,569 (GRCm39) |
K108E |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,403,612 (GRCm39) |
L345P |
probably damaging |
Het |
| Defb6 |
T |
A |
8: 19,278,085 (GRCm39) |
C52* |
probably null |
Het |
| Flii |
A |
T |
11: 60,612,423 (GRCm39) |
I288N |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,904,860 (GRCm39) |
Y55H |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,269,408 (GRCm39) |
C688S |
probably benign |
Het |
| Lmln |
T |
C |
16: 32,894,555 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
C |
9: 18,570,330 (GRCm39) |
T730A |
unknown |
Het |
| Nup88 |
T |
C |
11: 70,856,581 (GRCm39) |
E184G |
probably benign |
Het |
| Omt2b |
T |
C |
9: 78,235,543 (GRCm39) |
F27L |
possibly damaging |
Het |
| Or10g3 |
A |
T |
14: 52,609,748 (GRCm39) |
V254E |
probably damaging |
Het |
| Or2a7 |
A |
G |
6: 43,151,369 (GRCm39) |
I150V |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,415,072 (GRCm39) |
N174S |
probably damaging |
Het |
| Or4a15 |
G |
A |
2: 89,193,363 (GRCm39) |
R137* |
probably null |
Het |
| Or6c69b |
T |
C |
10: 129,627,254 (GRCm39) |
E68G |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigf |
G |
A |
17: 87,304,967 (GRCm39) |
A192V |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,292,691 (GRCm39) |
|
probably null |
Het |
| Ppat |
A |
T |
5: 77,066,061 (GRCm39) |
Y352* |
probably null |
Het |
| Rapgef6 |
T |
G |
11: 54,517,164 (GRCm39) |
|
probably null |
Het |
| Rrp15 |
A |
T |
1: 186,481,373 (GRCm39) |
S45T |
probably benign |
Het |
| Sap18 |
A |
G |
14: 58,035,771 (GRCm39) |
E30G |
probably damaging |
Het |
| Snx6 |
G |
T |
12: 54,793,813 (GRCm39) |
A284E |
possibly damaging |
Het |
| Tm4sf4 |
T |
A |
3: 57,333,112 (GRCm39) |
I26N |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,731,833 (GRCm39) |
L336P |
probably damaging |
Het |
| Ttl |
G |
A |
2: 128,931,041 (GRCm39) |
A335T |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,314,291 (GRCm39) |
|
probably null |
Het |
| Zfp74 |
G |
A |
7: 29,635,201 (GRCm39) |
T169I |
probably benign |
Het |
| Zfp937 |
A |
T |
2: 150,080,261 (GRCm39) |
H97L |
possibly damaging |
Het |
| Zzef1 |
G |
T |
11: 72,813,938 (GRCm39) |
E2842D |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGGTCCATGTAGAAAGATTTTGC -3'
(R):5'- AAACTCGTGGCTTCCATCC -3'
Sequencing Primer
(F):5'- gttcaccctactctttcct -3'
(R):5'- GCCACAGCAGCTGTCTATATAAGATG -3'
|
| Posted On |
2018-07-13 |
Incidental Mutation