Incidental Mutation 'R2345:Hk3'
| ID |
245994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hk3
|
| Ensembl Gene |
ENSMUSG00000025877 |
| Gene Name |
hexokinase 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R2345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55153798-55169198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55156806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 582
(D582G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026994]
[ENSMUST00000052949]
[ENSMUST00000109994]
[ENSMUST00000123097]
[ENSMUST00000126234]
[ENSMUST00000132309]
[ENSMUST00000137967]
[ENSMUST00000153665]
|
| AlphaFold |
Q3TRM8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026994
|
| SMART Domains |
Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
SCOP:d1biha1
|
44 |
143 |
1e-4 |
SMART |
|
IG
|
155 |
240 |
1.8e-5 |
SMART |
|
TSP1
|
245 |
296 |
1.25e-14 |
SMART |
|
TSP1
|
301 |
350 |
1.98e-8 |
SMART |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
ZU5
|
495 |
598 |
3.68e-58 |
SMART |
|
DEATH
|
805 |
896 |
5.86e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052949
AA Change: D637G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: D637G
| 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 benign
Transcript: ENSMUST00000109994
|
| SMART Domains |
Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
SCOP:d1biha1
|
44 |
143 |
1e-4 |
SMART |
|
IG
|
155 |
240 |
1.8e-5 |
SMART |
|
TSP1
|
245 |
294 |
1.98e-8 |
SMART |
|
transmembrane domain
|
305 |
327 |
N/A |
INTRINSIC |
|
ZU5
|
439 |
542 |
3.68e-58 |
SMART |
|
DEATH
|
749 |
840 |
5.86e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123097
AA Change: D592G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: D592G
| 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: D637G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: D637G
| 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 |
probably benign
Transcript: ENSMUST00000137967
|
| SMART Domains |
Protein: ENSMUSP00000115531
Gene: ENSMUSG00000025876
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3G5B|A
|
1 |
118 |
6e-36 |
PDB |
|
Blast:DEATH
|
80 |
119 |
9e-22 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153665
AA Change: D582G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: D582G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142906
|
| Meta Mutation Damage Score |
0.8993 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (30/30) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn3 |
A |
T |
12: 101,914,580 (GRCm39) |
M48K |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,210,740 (GRCm39) |
E638G |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Ceacam3 |
T |
G |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
| Ckb |
G |
A |
12: 111,638,238 (GRCm39) |
T52I |
probably damaging |
Het |
| Elac2 |
T |
C |
11: 64,891,900 (GRCm39) |
M773T |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,203,872 (GRCm39) |
|
probably benign |
Het |
| Htt |
T |
A |
5: 34,983,348 (GRCm39) |
N982K |
possibly damaging |
Het |
| Jag2 |
T |
C |
12: 112,872,684 (GRCm39) |
E1190G |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,370 (GRCm39) |
E90G |
probably damaging |
Het |
| Kynu |
A |
C |
2: 43,471,397 (GRCm39) |
Y71S |
probably damaging |
Het |
| Lonrf1 |
A |
T |
8: 36,690,016 (GRCm39) |
|
probably null |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,824,069 (GRCm39) |
M64L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,992,700 (GRCm39) |
F302Y |
probably damaging |
Het |
| Ndst4 |
T |
C |
3: 125,501,769 (GRCm39) |
S111P |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or1f19 |
G |
A |
16: 3,411,003 (GRCm39) |
V248M |
probably damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,166 (GRCm39) |
T2A |
probably benign |
Het |
| Or8b57 |
T |
G |
9: 40,003,849 (GRCm39) |
I138L |
probably benign |
Het |
| Phf3 |
G |
T |
1: 30,844,432 (GRCm39) |
S1509* |
probably null |
Het |
| Plekhh1 |
A |
T |
12: 79,100,421 (GRCm39) |
I130F |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,238,594 (GRCm39) |
F1953S |
unknown |
Het |
| Togaram1 |
T |
A |
12: 65,055,406 (GRCm39) |
S1466T |
probably benign |
Het |
| Tox2 |
T |
C |
2: 163,161,518 (GRCm39) |
Y348H |
probably damaging |
Het |
| Vmn2r129 |
T |
A |
4: 156,689,334 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr90 |
G |
T |
17: 26,078,136 (GRCm39) |
H411N |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,084,798 (GRCm39) |
T632I |
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 |
|
IGL02197:Hk3
|
APN |
13 |
55,162,281 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAACGGATGCTGCTAGTTG -3'
(R):5'- GAGCAAGGCCTTCAACTGTAGG -3'
Sequencing Primer
(F):5'- GGCAACATAGTTGTCATAGCAAC -3'
(R):5'- CCTTCAACTGTAGGGCAAAGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation