Incidental Mutation 'R5100:Hk3'
| ID |
388233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hk3
|
| Ensembl Gene |
ENSMUSG00000025877 |
| Gene Name |
hexokinase 3 |
| Synonyms |
|
| MMRRC Submission |
042689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5100 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55153798-55169198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55156843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 570
(T570A)
|
| 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: T625A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: T625A
| 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: T580A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: T580A
| 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: T625A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: T625A
| 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: T570A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: T570A
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,057,477 (GRCm39) |
M774K |
probably damaging |
Het |
| Adamts3 |
G |
A |
5: 89,856,502 (GRCm39) |
T357I |
probably damaging |
Het |
| Ap3m2 |
T |
A |
8: 23,279,404 (GRCm39) |
M408L |
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,833,149 (GRCm39) |
N1116K |
probably benign |
Het |
| Arhgap31 |
A |
T |
16: 38,421,821 (GRCm39) |
I1415N |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,530,963 (GRCm39) |
D1374E |
possibly damaging |
Het |
| Asxl1 |
C |
G |
2: 153,239,851 (GRCm39) |
N546K |
probably damaging |
Het |
| Cobll1 |
T |
A |
2: 64,956,245 (GRCm39) |
T337S |
probably benign |
Het |
| Depdc1a |
A |
T |
3: 159,221,157 (GRCm39) |
I163L |
probably benign |
Het |
| Flrt3 |
T |
A |
2: 140,513,304 (GRCm39) |
|
probably null |
Het |
| Foxn4 |
A |
T |
5: 114,394,820 (GRCm39) |
L369H |
possibly damaging |
Het |
| Gm11992 |
T |
C |
11: 9,011,290 (GRCm39) |
S244P |
probably damaging |
Het |
| Gm14412 |
C |
T |
2: 177,006,908 (GRCm39) |
C329Y |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm5113 |
G |
A |
7: 29,878,076 (GRCm39) |
V55M |
probably damaging |
Het |
| Grhl3 |
A |
G |
4: 135,269,986 (GRCm39) |
I599T |
probably benign |
Het |
| H2-Q6 |
G |
C |
17: 35,644,296 (GRCm39) |
E93Q |
probably benign |
Het |
| Hspb8 |
T |
C |
5: 116,553,468 (GRCm39) |
I143M |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,821,059 (GRCm39) |
T655A |
probably damaging |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Lrit1 |
T |
A |
14: 36,784,171 (GRCm39) |
C500S |
possibly damaging |
Het |
| Macf1 |
A |
C |
4: 123,368,261 (GRCm39) |
C602G |
probably benign |
Het |
| Mesd |
C |
T |
7: 83,546,977 (GRCm39) |
R147C |
probably damaging |
Het |
| Mfge8 |
A |
T |
7: 78,793,048 (GRCm39) |
D139E |
probably benign |
Het |
| Ncoa3 |
G |
A |
2: 165,892,017 (GRCm39) |
R131Q |
probably damaging |
Het |
| Ncoa5 |
A |
G |
2: 164,851,309 (GRCm39) |
I188T |
probably damaging |
Het |
| Ngp |
T |
C |
9: 110,249,069 (GRCm39) |
L47P |
probably damaging |
Het |
| Nhlrc1 |
T |
C |
13: 47,167,897 (GRCm39) |
H120R |
probably benign |
Het |
| Otos |
T |
A |
1: 92,572,107 (GRCm39) |
H73L |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,492,499 (GRCm39) |
|
probably null |
Het |
| Phc3 |
T |
C |
3: 30,976,348 (GRCm39) |
E740G |
possibly damaging |
Het |
| Pla2g7 |
T |
C |
17: 43,922,267 (GRCm39) |
L382P |
probably damaging |
Het |
| Plcd3 |
C |
A |
11: 102,969,175 (GRCm39) |
R264L |
probably benign |
Het |
| Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,814,567 (GRCm39) |
I823F |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,364,463 (GRCm39) |
R828G |
probably damaging |
Het |
| Spred2 |
T |
A |
11: 19,971,291 (GRCm39) |
C386* |
probably null |
Het |
| Terb1 |
A |
T |
8: 105,221,805 (GRCm39) |
L165* |
probably null |
Het |
| Tgm2 |
A |
T |
2: 157,969,084 (GRCm39) |
S430R |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,929,902 (GRCm39) |
I2879F |
probably damaging |
Het |
| Trpm3 |
T |
G |
19: 22,896,130 (GRCm39) |
V977G |
probably damaging |
Het |
| Wnt5b |
A |
C |
6: 119,417,449 (GRCm39) |
S139A |
probably benign |
Het |
| Zfp820 |
C |
A |
17: 22,040,054 (GRCm39) |
V52L |
possibly damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,326,832 (GRCm39) |
R764* |
probably null |
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 |
|
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'- GGCAACATAGTTGTCATAGCAAC -3'
(R):5'- AAAGCTTCCCAGGGACTTGAG -3'
Sequencing Primer
(F):5'- CTGGACTCAGAGGTCTCCATTATAG -3'
(R):5'- TTCCCAGGGACTTGAGAGGGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation