Incidental Mutation 'R3962:Galk2'
| ID |
312111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galk2
|
| Ensembl Gene |
ENSMUSG00000027207 |
| Gene Name |
galactokinase 2 |
| Synonyms |
2810017M24Rik, Gk2 |
| MMRRC Submission |
040837-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3962 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
125701029-125826218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125735293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 107
(N107I)
|
| 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: N85I
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000028636
Gene: ENSMUSG00000027207
AA Change: N85I
| 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: N96I
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000092186
Gene: ENSMUSG00000027207
AA Change: N96I
| 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
AA Change: N72I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000119902
Gene: ENSMUSG00000027207
AA Change: N72I
| 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: N107I
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120728
Gene: ENSMUSG00000027207
AA Change: N107I
| 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
AA Change: N103I
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000118930
Gene: ENSMUSG00000027207
AA Change: N103I
| 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 |
0.0942 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
96% (48/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abca12 |
A |
T |
1: 71,313,674 (GRCm39) |
|
probably null |
Het |
| Ablim2 |
C |
T |
5: 35,969,519 (GRCm39) |
R211C |
probably damaging |
Het |
| Actn4 |
C |
A |
7: 28,597,647 (GRCm39) |
|
probably null |
Het |
| B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
| Bod1l |
T |
G |
5: 41,966,064 (GRCm39) |
E2667A |
probably benign |
Het |
| Ccdc13 |
G |
A |
9: 121,628,005 (GRCm39) |
|
probably benign |
Het |
| Ccdc15 |
G |
T |
9: 37,231,782 (GRCm39) |
R181S |
probably damaging |
Het |
| Ccnd1 |
G |
A |
7: 144,487,787 (GRCm39) |
T230M |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
| Fam161a |
T |
C |
11: 22,973,507 (GRCm39) |
M275T |
possibly damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,977,372 (GRCm39) |
T95A |
probably benign |
Het |
| Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,708,911 (GRCm39) |
|
probably benign |
Het |
| Gm5082 |
T |
C |
13: 41,809,894 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
C |
T |
1: 16,838,868 (GRCm39) |
|
noncoding transcript |
Het |
| Haus6 |
C |
T |
4: 86,530,041 (GRCm39) |
A4T |
possibly damaging |
Het |
| Hmgcs2 |
G |
A |
3: 98,198,354 (GRCm39) |
V86M |
possibly damaging |
Het |
| Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 114,976,054 (GRCm39) |
V1106E |
probably damaging |
Het |
| Itga9 |
G |
A |
9: 118,457,254 (GRCm39) |
D122N |
possibly damaging |
Het |
| Kif21a |
T |
A |
15: 90,869,612 (GRCm39) |
E413V |
probably damaging |
Het |
| Klk1 |
A |
G |
7: 43,878,973 (GRCm39) |
T256A |
possibly damaging |
Het |
| L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
| Larp4 |
C |
A |
15: 99,910,026 (GRCm39) |
Q652K |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Moxd2 |
T |
A |
6: 40,862,331 (GRCm39) |
M163L |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,370,654 (GRCm39) |
R1138H |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,035,808 (GRCm39) |
D28G |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,104,535 (GRCm39) |
I219N |
probably damaging |
Het |
| Platr26 |
A |
T |
2: 71,549,849 (GRCm39) |
|
noncoding transcript |
Het |
| Ptdss1 |
A |
G |
13: 67,142,075 (GRCm39) |
H411R |
probably benign |
Het |
| Ptpra |
A |
G |
2: 30,325,672 (GRCm39) |
T147A |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,092,302 (GRCm39) |
Y307C |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,108,302 (GRCm39) |
V525A |
probably damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,533,398 (GRCm39) |
S1007G |
probably damaging |
Het |
| Spmip5 |
A |
G |
19: 58,777,541 (GRCm39) |
Y82H |
probably damaging |
Het |
| Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,953,054 (GRCm39) |
I219M |
probably damaging |
Het |
| Tars2 |
A |
G |
3: 95,662,068 (GRCm39) |
|
probably null |
Het |
| Tfap2d |
A |
G |
1: 19,189,189 (GRCm39) |
N245S |
probably damaging |
Het |
| Tlr6 |
T |
A |
5: 65,112,328 (GRCm39) |
H193L |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,164,352 (GRCm39) |
V78A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,840,140 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
A |
G |
9: 43,986,954 (GRCm39) |
D84G |
possibly damaging |
Het |
| V1ra8 |
A |
G |
6: 90,180,466 (GRCm39) |
N223S |
probably benign |
Het |
| Wnk2 |
C |
A |
13: 49,224,453 (GRCm39) |
R1122L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGACTGAGATACACGTTTAAG -3'
(R):5'- CCCTGGCCTTGAAACAGAAG -3'
Sequencing Primer
(F):5'- AGAAAAGGAGACTCACGTAAATAAAG -3'
(R):5'- CTGGCCTTGAAACAGAAGTCAGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation