Incidental Mutation 'R7227:Hk3'
ID |
562248 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hk3
|
Ensembl Gene |
ENSMUSG00000025877 |
Gene Name |
hexokinase 3 |
Synonyms |
|
MMRRC Submission |
045299-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R7227 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
55153798-55169198 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 55160053 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 362
(R362H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051215
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052949]
[ENSMUST00000123097]
[ENSMUST00000126234]
[ENSMUST00000132309]
[ENSMUST00000148221]
[ENSMUST00000153665]
|
AlphaFold |
Q3TRM8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052949
AA Change: R362H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000051215 Gene: ENSMUSG00000025877 AA Change: R362H
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: ENSMUST00000123097
AA Change: R362H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000116717 Gene: ENSMUSG00000025877 AA Change: R362H
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 benign
Transcript: ENSMUST00000126234
AA Change: R362H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000123233 Gene: ENSMUSG00000025877 AA Change: R362H
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: ENSMUST00000148221
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153665
AA Change: R307H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000115227 Gene: ENSMUSG00000025877 AA Change: R307H
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
97% (57/59) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
A |
T |
7: 130,952,449 (GRCm39) |
L344H |
probably damaging |
Het |
Abcb1b |
T |
A |
5: 8,875,593 (GRCm39) |
S589T |
probably damaging |
Het |
Acsm2 |
A |
C |
7: 119,190,556 (GRCm39) |
I520L |
probably benign |
Het |
Ap2a2 |
T |
C |
7: 141,200,784 (GRCm39) |
Y544H |
probably damaging |
Het |
Ascc1 |
T |
A |
10: 59,843,560 (GRCm39) |
Y41N |
probably benign |
Het |
Bend3 |
T |
A |
10: 43,387,401 (GRCm39) |
L598Q |
probably damaging |
Het |
Cfap74 |
T |
G |
4: 155,545,405 (GRCm39) |
Y1108* |
probably null |
Het |
Cxcl17 |
C |
A |
7: 25,102,319 (GRCm39) |
R41S |
probably damaging |
Het |
Cyp2c69 |
C |
A |
19: 39,869,610 (GRCm39) |
M136I |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,312,222 (GRCm39) |
Y4370H |
probably damaging |
Het |
Dzip3 |
T |
A |
16: 48,771,932 (GRCm39) |
Q579L |
probably damaging |
Het |
Enpp3 |
C |
T |
10: 24,693,742 (GRCm39) |
M195I |
unknown |
Het |
Esyt2 |
A |
G |
12: 116,305,745 (GRCm39) |
D325G |
probably damaging |
Het |
Fat1 |
T |
G |
8: 45,463,646 (GRCm39) |
I1396S |
probably benign |
Het |
Gigyf1 |
T |
A |
5: 137,522,085 (GRCm39) |
I661K |
unknown |
Het |
Gja1 |
T |
A |
10: 56,263,752 (GRCm39) |
L37Q |
probably damaging |
Het |
Hivep1 |
T |
C |
13: 42,310,387 (GRCm39) |
S876P |
probably benign |
Het |
Ier3ip1 |
T |
A |
18: 77,027,330 (GRCm39) |
M53K |
probably benign |
Het |
Klhl5 |
T |
C |
5: 65,298,631 (GRCm39) |
S137P |
probably benign |
Het |
Kremen2 |
G |
T |
17: 23,963,573 (GRCm39) |
Y70* |
probably null |
Het |
Lag3 |
C |
T |
6: 124,885,457 (GRCm39) |
G308S |
possibly damaging |
Het |
Mab21l4 |
G |
T |
1: 93,079,736 (GRCm39) |
N451K |
probably benign |
Het |
Map4k2 |
T |
A |
19: 6,396,624 (GRCm39) |
L542Q |
probably damaging |
Het |
Mef2d |
G |
A |
3: 88,065,514 (GRCm39) |
|
probably null |
Het |
Mkrn3 |
C |
A |
7: 62,069,415 (GRCm39) |
R125S |
probably benign |
Het |
Mpp3 |
T |
A |
11: 101,895,904 (GRCm39) |
Y457F |
possibly damaging |
Het |
Mrpl12 |
T |
A |
11: 120,379,178 (GRCm39) |
I175N |
probably damaging |
Het |
Mybbp1a |
G |
T |
11: 72,338,585 (GRCm39) |
K728N |
possibly damaging |
Het |
Nfkb1 |
C |
T |
3: 135,332,420 (GRCm39) |
V112M |
probably damaging |
Het |
Nucb2 |
A |
T |
7: 116,125,311 (GRCm39) |
D123V |
probably damaging |
Het |
Or12j2 |
A |
G |
7: 139,915,534 (GRCm39) |
|
probably benign |
Het |
Orc3 |
T |
C |
4: 34,572,542 (GRCm39) |
T629A |
probably benign |
Het |
Pdk1 |
T |
A |
2: 71,714,245 (GRCm39) |
N218K |
possibly damaging |
Het |
Plce1 |
A |
G |
19: 38,715,346 (GRCm39) |
T1298A |
probably benign |
Het |
Ppan |
T |
A |
9: 20,799,496 (GRCm39) |
|
probably benign |
Het |
Rap1gds1 |
C |
T |
3: 138,663,228 (GRCm39) |
G373R |
probably damaging |
Het |
Scn2a |
A |
C |
2: 65,582,367 (GRCm39) |
I1572L |
probably damaging |
Het |
Sec16a |
A |
T |
2: 26,328,935 (GRCm39) |
Y1027N |
probably benign |
Het |
Serpinb3a |
T |
A |
1: 106,979,359 (GRCm39) |
T48S |
probably damaging |
Het |
Slc30a8 |
A |
G |
15: 52,195,032 (GRCm39) |
M264V |
probably benign |
Het |
Slc44a3 |
A |
T |
3: 121,303,879 (GRCm39) |
C286S |
possibly damaging |
Het |
Slc8a2 |
T |
C |
7: 15,878,906 (GRCm39) |
I464T |
possibly damaging |
Het |
Smco1 |
T |
C |
16: 32,092,833 (GRCm39) |
M168T |
possibly damaging |
Het |
Spns2 |
A |
T |
11: 72,349,513 (GRCm39) |
Y246* |
probably null |
Het |
Ssbp2 |
T |
C |
13: 91,823,244 (GRCm39) |
M213T |
probably benign |
Het |
Stk40 |
G |
T |
4: 126,017,559 (GRCm39) |
A29S |
probably benign |
Het |
Thrap3 |
A |
T |
4: 126,067,296 (GRCm39) |
F683I |
probably damaging |
Het |
Tmc5 |
A |
G |
7: 118,269,889 (GRCm39) |
T880A |
possibly damaging |
Het |
Trim38 |
T |
A |
13: 23,969,946 (GRCm39) |
N168K |
possibly damaging |
Het |
Ube2d1 |
T |
A |
10: 71,091,702 (GRCm39) |
Y134F |
possibly damaging |
Het |
Vmn1r67 |
T |
A |
7: 10,181,475 (GRCm39) |
Y246* |
probably null |
Het |
Vmn2r18 |
T |
C |
5: 151,496,264 (GRCm39) |
T485A |
probably damaging |
Het |
Wrn |
T |
A |
8: 33,738,974 (GRCm39) |
I1285F |
probably damaging |
Het |
Xrcc1 |
C |
A |
7: 24,246,757 (GRCm39) |
H8Q |
probably damaging |
Het |
Zkscan4 |
T |
C |
13: 21,668,413 (GRCm39) |
V317A |
probably benign |
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 |
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 |
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'- ACAGCCACTTGCAATGTCTG -3'
(R):5'- TCAAGGCTGTATCCTCCTGG -3'
Sequencing Primer
(F):5'- AATGTCTGCTGCTCCCTGCTG -3'
(R):5'- AGGCTTGCAGCTTAGCCAG -3'
|
Posted On |
2019-06-26 |