Incidental Mutation 'IGL02197:Hk3'
ID |
284061 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hk3
|
Ensembl Gene |
ENSMUSG00000025877 |
Gene Name |
hexokinase 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
IGL02197
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
55153798-55169198 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55162281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 108
(F108L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052949]
[ENSMUST00000123097]
[ENSMUST00000126234]
[ENSMUST00000132309]
[ENSMUST00000148221]
[ENSMUST00000153665]
|
AlphaFold |
Q3TRM8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052949
AA Change: F163L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051215 Gene: ENSMUSG00000025877 AA Change: F163L
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
29 |
232 |
3.7e-76 |
PFAM |
Pfam:Hexokinase_2
|
234 |
473 |
1.9e-87 |
PFAM |
Pfam:Hexokinase_1
|
475 |
674 |
2.2e-77 |
PFAM |
Pfam:Hexokinase_2
|
676 |
915 |
2.3e-103 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123097
AA Change: F163L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116717 Gene: ENSMUSG00000025877 AA Change: F163L
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
29 |
232 |
3.3e-77 |
PFAM |
Pfam:Hexokinase_2
|
234 |
457 |
6e-74 |
PFAM |
Pfam:Hexokinase_1
|
430 |
629 |
3e-78 |
PFAM |
Pfam:Hexokinase_2
|
631 |
870 |
1e-104 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126234
AA Change: F163L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123233 Gene: ENSMUSG00000025877 AA Change: F163L
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
31 |
230 |
2.4e-63 |
PFAM |
Pfam:Hexokinase_2
|
236 |
470 |
2.9e-62 |
PFAM |
Pfam:Hexokinase_1
|
480 |
673 |
2e-69 |
PFAM |
Pfam:Hexokinase_2
|
678 |
912 |
1.5e-81 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132309
|
SMART Domains |
Protein: ENSMUSP00000117254 Gene: ENSMUSG00000025877
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
29 |
164 |
4.1e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135983
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148221
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149644
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153665
AA Change: F108L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115227 Gene: ENSMUSG00000025877 AA Change: F108L
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
1 |
177 |
8.5e-70 |
PFAM |
Pfam:Hexokinase_2
|
179 |
418 |
9.4e-88 |
PFAM |
Pfam:Hexokinase_1
|
420 |
619 |
1.2e-77 |
PFAM |
Pfam:Hexokinase_2
|
621 |
860 |
1.1e-103 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap21 |
T |
C |
2: 20,885,117 (GRCm39) |
S526G |
probably benign |
Het |
Atad2b |
A |
T |
12: 5,068,056 (GRCm39) |
N1018I |
possibly damaging |
Het |
Baz1b |
A |
G |
5: 135,237,951 (GRCm39) |
E209G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,960,884 (GRCm39) |
T445A |
probably damaging |
Het |
Capn11 |
T |
A |
17: 45,950,782 (GRCm39) |
T264S |
probably benign |
Het |
Cdh1 |
A |
G |
8: 107,380,418 (GRCm39) |
E187G |
probably benign |
Het |
Cps1 |
A |
G |
1: 67,196,923 (GRCm39) |
I325V |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,687,152 (GRCm39) |
|
probably benign |
Het |
Dnaaf3 |
T |
C |
7: 4,530,496 (GRCm39) |
D203G |
probably damaging |
Het |
Eif2ak3 |
A |
G |
6: 70,878,441 (GRCm39) |
Y1045C |
probably benign |
Het |
Fam13a |
T |
A |
6: 58,912,586 (GRCm39) |
D689V |
possibly damaging |
Het |
Fnip1 |
T |
A |
11: 54,384,200 (GRCm39) |
L342I |
probably damaging |
Het |
Frk |
T |
A |
10: 34,360,330 (GRCm39) |
N110K |
probably damaging |
Het |
Gm5134 |
T |
C |
10: 75,790,536 (GRCm39) |
|
probably null |
Het |
Gm53 |
T |
C |
11: 96,142,549 (GRCm39) |
|
noncoding transcript |
Het |
Gm9312 |
A |
T |
12: 24,302,163 (GRCm39) |
|
noncoding transcript |
Het |
Gm9936 |
A |
G |
5: 114,995,152 (GRCm39) |
|
probably benign |
Het |
Homer2 |
A |
T |
7: 81,260,147 (GRCm39) |
S296T |
probably benign |
Het |
Itga2b |
T |
A |
11: 102,357,145 (GRCm39) |
H245L |
probably benign |
Het |
Ky |
T |
C |
9: 102,414,985 (GRCm39) |
F299S |
possibly damaging |
Het |
Lama5 |
A |
G |
2: 179,849,012 (GRCm39) |
Y224H |
possibly damaging |
Het |
Leng9 |
G |
T |
7: 4,151,723 (GRCm39) |
L318I |
probably damaging |
Het |
Lpin1 |
A |
G |
12: 16,608,408 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
C |
2: 69,297,224 (GRCm39) |
I3246V |
probably benign |
Het |
Map2k3 |
A |
G |
11: 60,837,590 (GRCm39) |
Y230C |
probably damaging |
Het |
Myef2 |
T |
C |
2: 124,955,959 (GRCm39) |
|
probably null |
Het |
Myh3 |
A |
T |
11: 66,989,409 (GRCm39) |
I1510L |
probably benign |
Het |
Mypn |
T |
C |
10: 62,959,057 (GRCm39) |
D1088G |
possibly damaging |
Het |
Nek9 |
C |
A |
12: 85,354,704 (GRCm39) |
V745L |
probably null |
Het |
Neu1 |
T |
A |
17: 35,153,641 (GRCm39) |
V355D |
possibly damaging |
Het |
Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
Or4c107 |
A |
G |
2: 88,789,028 (GRCm39) |
T73A |
probably benign |
Het |
Or6e1 |
T |
C |
14: 54,519,409 (GRCm39) |
*314W |
probably null |
Het |
Papola |
A |
T |
12: 105,795,442 (GRCm39) |
N631I |
possibly damaging |
Het |
Pcnx1 |
T |
C |
12: 81,965,878 (GRCm39) |
S682P |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,039,925 (GRCm39) |
S2071P |
possibly damaging |
Het |
Pga5 |
A |
G |
19: 10,649,277 (GRCm39) |
|
probably benign |
Het |
Phlda1 |
T |
A |
10: 111,343,014 (GRCm39) |
M250K |
probably damaging |
Het |
Phox2b |
A |
G |
5: 67,253,869 (GRCm39) |
|
probably benign |
Het |
Pkdrej |
A |
G |
15: 85,699,994 (GRCm39) |
Y1981H |
possibly damaging |
Het |
Pold1 |
G |
A |
7: 44,191,663 (GRCm39) |
P108S |
probably benign |
Het |
Ptprg |
T |
G |
14: 12,220,613 (GRCm38) |
F442V |
probably damaging |
Het |
Rab36 |
A |
G |
10: 74,887,874 (GRCm39) |
I248M |
probably damaging |
Het |
Scnn1b |
G |
A |
7: 121,502,113 (GRCm39) |
R257Q |
probably null |
Het |
Sdc1 |
A |
G |
12: 8,840,835 (GRCm39) |
Q200R |
possibly damaging |
Het |
Slc10a7 |
A |
G |
8: 79,242,292 (GRCm39) |
T60A |
probably damaging |
Het |
Snx13 |
A |
G |
12: 35,156,800 (GRCm39) |
D484G |
probably damaging |
Het |
Tlr1 |
G |
A |
5: 65,083,797 (GRCm39) |
T260M |
probably damaging |
Het |
Tpcn1 |
A |
G |
5: 120,691,596 (GRCm39) |
V286A |
probably damaging |
Het |
Traip |
T |
G |
9: 107,845,936 (GRCm39) |
L343R |
possibly damaging |
Het |
Unc13b |
A |
G |
4: 43,165,828 (GRCm39) |
H204R |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,569,224 (GRCm39) |
S960G |
probably benign |
Het |
V1ra8 |
C |
T |
6: 90,180,184 (GRCm39) |
P129L |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,930,202 (GRCm39) |
F3980I |
probably benign |
Het |
Vps13d |
T |
C |
4: 144,854,879 (GRCm39) |
N2248S |
probably benign |
Het |
Vps26c |
G |
T |
16: 94,302,549 (GRCm39) |
|
probably benign |
Het |
Wnk4 |
T |
C |
11: 101,154,783 (GRCm39) |
L324P |
probably damaging |
Het |
|
Other mutations in Hk3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00941:Hk3
|
APN |
13 |
55,162,239 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01314:Hk3
|
APN |
13 |
55,154,876 (GRCm39) |
splice site |
probably benign |
|
IGL02043:Hk3
|
APN |
13 |
55,162,908 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02619:Hk3
|
APN |
13 |
55,162,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R0454:Hk3
|
UTSW |
13 |
55,156,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R0518:Hk3
|
UTSW |
13 |
55,162,239 (GRCm39) |
critical splice donor site |
probably null |
|
R0521:Hk3
|
UTSW |
13 |
55,162,239 (GRCm39) |
critical splice donor site |
probably null |
|
R0709:Hk3
|
UTSW |
13 |
55,162,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R1386:Hk3
|
UTSW |
13 |
55,154,843 (GRCm39) |
splice site |
probably null |
|
R1567:Hk3
|
UTSW |
13 |
55,154,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R1647:Hk3
|
UTSW |
13 |
55,162,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R1648:Hk3
|
UTSW |
13 |
55,162,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R1663:Hk3
|
UTSW |
13 |
55,154,388 (GRCm39) |
missense |
probably benign |
0.00 |
R1936:Hk3
|
UTSW |
13 |
55,159,204 (GRCm39) |
missense |
probably damaging |
0.98 |
R1940:Hk3
|
UTSW |
13 |
55,159,204 (GRCm39) |
missense |
probably damaging |
0.98 |
R1966:Hk3
|
UTSW |
13 |
55,162,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R2345:Hk3
|
UTSW |
13 |
55,156,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R4838:Hk3
|
UTSW |
13 |
55,154,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R4852:Hk3
|
UTSW |
13 |
55,160,409 (GRCm39) |
missense |
probably damaging |
0.99 |
R4883:Hk3
|
UTSW |
13 |
55,158,735 (GRCm39) |
missense |
probably benign |
0.04 |
R4888:Hk3
|
UTSW |
13 |
55,154,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R5100:Hk3
|
UTSW |
13 |
55,156,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R5253:Hk3
|
UTSW |
13 |
55,158,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R5328:Hk3
|
UTSW |
13 |
55,161,306 (GRCm39) |
missense |
probably benign |
0.00 |
R5441:Hk3
|
UTSW |
13 |
55,162,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R5493:Hk3
|
UTSW |
13 |
55,158,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R5557:Hk3
|
UTSW |
13 |
55,159,888 (GRCm39) |
nonsense |
probably null |
|
R5575:Hk3
|
UTSW |
13 |
55,162,583 (GRCm39) |
missense |
probably damaging |
0.99 |
R5578:Hk3
|
UTSW |
13 |
55,159,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R5686:Hk3
|
UTSW |
13 |
55,154,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R5872:Hk3
|
UTSW |
13 |
55,158,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R6038:Hk3
|
UTSW |
13 |
55,154,373 (GRCm39) |
missense |
probably benign |
0.13 |
R6038:Hk3
|
UTSW |
13 |
55,154,373 (GRCm39) |
missense |
probably benign |
0.13 |
R6314:Hk3
|
UTSW |
13 |
55,161,393 (GRCm39) |
missense |
probably benign |
0.02 |
R6315:Hk3
|
UTSW |
13 |
55,158,970 (GRCm39) |
missense |
probably benign |
0.03 |
R6797:Hk3
|
UTSW |
13 |
55,158,644 (GRCm39) |
splice site |
probably null |
|
R6827:Hk3
|
UTSW |
13 |
55,159,165 (GRCm39) |
missense |
probably damaging |
0.98 |
R6860:Hk3
|
UTSW |
13 |
55,162,278 (GRCm39) |
missense |
probably damaging |
0.98 |
R7082:Hk3
|
UTSW |
13 |
55,154,710 (GRCm39) |
missense |
probably benign |
0.40 |
R7227:Hk3
|
UTSW |
13 |
55,160,053 (GRCm39) |
missense |
probably benign |
0.00 |
R7564:Hk3
|
UTSW |
13 |
55,159,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R8274:Hk3
|
UTSW |
13 |
55,159,230 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9704:Hk3
|
UTSW |
13 |
55,160,253 (GRCm39) |
critical splice donor site |
probably null |
|
X0003:Hk3
|
UTSW |
13 |
55,154,949 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Hk3
|
UTSW |
13 |
55,158,523 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Hk3
|
UTSW |
13 |
55,158,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |