Incidental Mutation 'R3887:Hk2'
| ID |
309692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hk2
|
| Ensembl Gene |
ENSMUSG00000000628 |
| Gene Name |
hexokinase 2 |
| Synonyms |
HKII |
| MMRRC Submission |
040799-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3887 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
82702006-82751435 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82711942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 548
(D548N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000642]
[ENSMUST00000170833]
|
| AlphaFold |
O08528 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000642
AA Change: D576N
PolyPhen 2
Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000000642
Gene: ENSMUSG00000000628
AA Change: D576N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
21 |
220 |
9.8e-78 |
PFAM |
|
Pfam:Hexokinase_2
|
225 |
459 |
4.9e-85 |
PFAM |
|
Pfam:Hexokinase_1
|
469 |
668 |
6.4e-80 |
PFAM |
|
Pfam:Hexokinase_2
|
673 |
907 |
8.7e-85 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170833
AA Change: D548N
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125986
Gene: ENSMUSG00000000628
AA Change: D548N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
1 |
193 |
5.5e-89 |
PFAM |
|
Pfam:Hexokinase_2
|
195 |
434 |
5.3e-107 |
PFAM |
|
Pfam:Hexokinase_1
|
436 |
641 |
5.9e-91 |
PFAM |
|
Pfam:Hexokinase_2
|
643 |
882 |
1.3e-109 |
PFAM |
|
| Meta Mutation Damage Score |
0.7270 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (40/40) |
| 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 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]
PHENOTYPE: Embryos homozygous for a knock-out mutation are severely growth retarded and die around E8.5. Interestingly, heterozygous mutant mice are viable and fertile, develop normally and do not exhibit impaired insulin action or glucose tolerance even when challenged with a high-fat diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
A |
1: 85,868,273 (GRCm39) |
|
probably null |
Het |
| Ankdd1a |
C |
A |
9: 65,409,530 (GRCm39) |
G469W |
probably damaging |
Het |
| Ano6 |
A |
C |
15: 95,792,330 (GRCm39) |
T65P |
possibly damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,363,019 (GRCm39) |
|
probably null |
Het |
| Ccdc175 |
A |
G |
12: 72,182,822 (GRCm39) |
I399T |
possibly damaging |
Het |
| Ceacam14 |
T |
A |
7: 17,548,063 (GRCm39) |
V51D |
probably damaging |
Het |
| Cerk |
A |
T |
15: 86,033,532 (GRCm39) |
I297N |
possibly damaging |
Het |
| Cps1 |
C |
A |
1: 67,204,659 (GRCm39) |
T493K |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,326 (GRCm39) |
M1161K |
probably damaging |
Het |
| Efcab14 |
T |
A |
4: 115,595,857 (GRCm39) |
M1K |
probably null |
Het |
| Etl4 |
C |
T |
2: 20,534,772 (GRCm39) |
Q76* |
probably null |
Het |
| Fmc1 |
T |
C |
6: 38,516,223 (GRCm39) |
S90P |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,679,465 (GRCm39) |
Y511C |
probably damaging |
Het |
| Foxd2 |
T |
C |
4: 114,765,483 (GRCm39) |
H179R |
unknown |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Mapk12 |
A |
T |
15: 89,019,840 (GRCm39) |
H122Q |
possibly damaging |
Het |
| Mdfic |
C |
T |
6: 15,799,710 (GRCm39) |
T279I |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,412,233 (GRCm39) |
V2580A |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,078,676 (GRCm39) |
I476T |
probably damaging |
Het |
| Ncapg |
G |
A |
5: 45,831,705 (GRCm39) |
V184I |
probably benign |
Het |
| Or4a71 |
T |
A |
2: 89,358,076 (GRCm39) |
H226L |
possibly damaging |
Het |
| Pla2g15 |
A |
G |
8: 106,887,767 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm45 |
A |
G |
2: 76,205,768 (GRCm39) |
S207G |
probably benign |
Het |
| Reln |
T |
C |
5: 22,115,847 (GRCm39) |
I3054V |
possibly damaging |
Het |
| Rreb1 |
G |
T |
13: 38,077,941 (GRCm39) |
R51L |
probably damaging |
Het |
| Scube2 |
A |
T |
7: 109,442,383 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,602,666 (GRCm39) |
F65S |
probably damaging |
Het |
| Slc17a8 |
G |
T |
10: 89,427,000 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
G |
A |
2: 26,255,510 (GRCm39) |
Q1005* |
probably null |
Het |
| Stag3 |
A |
G |
5: 138,297,101 (GRCm39) |
I550M |
probably damaging |
Het |
| Steap4 |
G |
T |
5: 8,030,494 (GRCm39) |
R450L |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,556,923 (GRCm39) |
|
probably benign |
Het |
| Stxbp3 |
C |
T |
3: 108,712,549 (GRCm39) |
|
probably null |
Het |
| Syngr1 |
A |
G |
15: 80,000,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,798,967 (GRCm39) |
I513N |
possibly damaging |
Het |
|
| Other mutations in Hk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Hk2
|
APN |
6 |
82,706,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01484:Hk2
|
APN |
6 |
82,713,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01786:Hk2
|
APN |
6 |
82,716,534 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02164:Hk2
|
APN |
6 |
82,720,920 (GRCm39) |
splice site |
probably null |
|
|
IGL02293:Hk2
|
APN |
6 |
82,720,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02861:Hk2
|
APN |
6 |
82,737,139 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03029:Hk2
|
APN |
6 |
82,715,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03063:Hk2
|
APN |
6 |
82,726,213 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03063:Hk2
|
APN |
6 |
82,716,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Hk2
|
UTSW |
6 |
82,737,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4243001:Hk2
|
UTSW |
6 |
82,707,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0069:Hk2
|
UTSW |
6 |
82,713,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0081:Hk2
|
UTSW |
6 |
82,711,957 (GRCm39) |
splice site |
probably benign |
|
|
R0981:Hk2
|
UTSW |
6 |
82,720,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1234:Hk2
|
UTSW |
6 |
82,737,229 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1239:Hk2
|
UTSW |
6 |
82,726,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Hk2
|
UTSW |
6 |
82,721,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1891:Hk2
|
UTSW |
6 |
82,726,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2338:Hk2
|
UTSW |
6 |
82,708,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3854:Hk2
|
UTSW |
6 |
82,713,657 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3855:Hk2
|
UTSW |
6 |
82,713,657 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3856:Hk2
|
UTSW |
6 |
82,713,657 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4382:Hk2
|
UTSW |
6 |
82,712,322 (GRCm39) |
missense |
probably null |
1.00 |
|
R4684:Hk2
|
UTSW |
6 |
82,716,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Hk2
|
UTSW |
6 |
82,716,631 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4735:Hk2
|
UTSW |
6 |
82,721,955 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5014:Hk2
|
UTSW |
6 |
82,720,936 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5552:Hk2
|
UTSW |
6 |
82,707,804 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5914:Hk2
|
UTSW |
6 |
82,713,615 (GRCm39) |
missense |
probably benign |
|
|
R6212:Hk2
|
UTSW |
6 |
82,705,823 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6276:Hk2
|
UTSW |
6 |
82,720,347 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6369:Hk2
|
UTSW |
6 |
82,713,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7175:Hk2
|
UTSW |
6 |
82,711,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7340:Hk2
|
UTSW |
6 |
82,705,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7383:Hk2
|
UTSW |
6 |
82,726,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7417:Hk2
|
UTSW |
6 |
82,720,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7481:Hk2
|
UTSW |
6 |
82,737,150 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7495:Hk2
|
UTSW |
6 |
82,704,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7757:Hk2
|
UTSW |
6 |
82,719,896 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8023:Hk2
|
UTSW |
6 |
82,705,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8100:Hk2
|
UTSW |
6 |
82,707,859 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8385:Hk2
|
UTSW |
6 |
82,706,527 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8504:Hk2
|
UTSW |
6 |
82,721,847 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8695:Hk2
|
UTSW |
6 |
82,716,627 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8808:Hk2
|
UTSW |
6 |
82,705,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8898:Hk2
|
UTSW |
6 |
82,715,379 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9037:Hk2
|
UTSW |
6 |
82,720,339 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9474:Hk2
|
UTSW |
6 |
82,705,895 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCAACTCTCTTCCCTGTAAAC -3'
(R):5'- GCTTCTGGGATGATTCAGCG -3'
Sequencing Primer
(F):5'- CTTCCCTGTAAACTGGAGTGAGC -3'
(R):5'- TCTGGGATGATTCAGCGACCTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation