Incidental Mutation 'IGL02043:Hk3'
| ID |
184834 |
| 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: 0.071)
|
| Stock # |
IGL02043
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55153798-55169198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55162908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 44
(Q44L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052949]
[ENSMUST00000123097]
[ENSMUST00000126234]
[ENSMUST00000132309]
[ENSMUST00000148221]
[ENSMUST00000153665]
|
| AlphaFold |
Q3TRM8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052949
AA Change: Q44L
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: Q44L
| 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 |
possibly damaging
Transcript: ENSMUST00000123097
AA Change: Q44L
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: Q44L
| 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 |
possibly damaging
Transcript: ENSMUST00000126234
AA Change: Q44L
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: Q44L
| 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 damaging
Transcript: ENSMUST00000132309
AA Change: Q44L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117254
Gene: ENSMUSG00000025877
AA Change: Q44L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
29 |
164 |
4.1e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135983
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148221
AA Change: Q44L
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153665
|
| SMART Domains |
Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1b2 |
T |
C |
11: 69,496,102 (GRCm39) |
T33A |
probably benign |
Het |
| Brd2 |
A |
T |
17: 34,331,590 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,208,299 (GRCm39) |
|
probably benign |
Het |
| Cdh9 |
A |
T |
15: 16,856,318 (GRCm39) |
D786V |
probably damaging |
Het |
| Cep128 |
A |
C |
12: 91,233,504 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,883,038 (GRCm39) |
T284A |
probably benign |
Het |
| Chrna1 |
C |
T |
2: 73,398,450 (GRCm39) |
E330K |
probably benign |
Het |
| Clec2l |
T |
C |
6: 38,653,785 (GRCm39) |
Y104H |
probably damaging |
Het |
| Clybl |
G |
T |
14: 122,616,664 (GRCm39) |
K226N |
probably damaging |
Het |
| Cmip |
T |
A |
8: 118,172,067 (GRCm39) |
D467E |
probably benign |
Het |
| Cpne3 |
A |
T |
4: 19,543,340 (GRCm39) |
|
probably null |
Het |
| Crisp4 |
A |
G |
1: 18,204,324 (GRCm39) |
V46A |
probably damaging |
Het |
| Csnk2a1 |
T |
C |
2: 152,116,070 (GRCm39) |
Y261H |
probably damaging |
Het |
| Cul5 |
C |
A |
9: 53,569,973 (GRCm39) |
G86V |
probably benign |
Het |
| Czib |
T |
G |
4: 107,752,065 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
T |
C |
2: 104,560,626 (GRCm39) |
T123A |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,547,661 (GRCm39) |
T384A |
probably damaging |
Het |
| F8 |
C |
T |
X: 74,376,247 (GRCm39) |
M377I |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,021,367 (GRCm39) |
|
probably null |
Het |
| Fez2 |
T |
C |
17: 78,689,051 (GRCm39) |
D366G |
probably damaging |
Het |
| Gm4841 |
A |
C |
18: 60,404,037 (GRCm39) |
S19A |
probably benign |
Het |
| Gm4862 |
T |
A |
3: 138,834,396 (GRCm39) |
|
noncoding transcript |
Het |
| Irgm1 |
C |
A |
11: 48,757,642 (GRCm39) |
L56F |
probably damaging |
Het |
| Ldlr |
A |
G |
9: 21,644,795 (GRCm39) |
T108A |
probably benign |
Het |
| Lgr4 |
T |
A |
2: 109,841,635 (GRCm39) |
M516K |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,587,537 (GRCm39) |
N3906S |
probably null |
Het |
| Lrrtm4 |
A |
G |
6: 79,998,845 (GRCm39) |
N86D |
possibly damaging |
Het |
| Map3k2 |
A |
G |
18: 32,340,587 (GRCm39) |
D198G |
probably damaging |
Het |
| Mapkapk3 |
C |
T |
9: 107,139,621 (GRCm39) |
|
probably null |
Het |
| Mvp |
A |
T |
7: 126,592,790 (GRCm39) |
Y374N |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,404,776 (GRCm39) |
S711P |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,497,986 (GRCm39) |
K189E |
probably damaging |
Het |
| Naip1 |
T |
A |
13: 100,563,304 (GRCm39) |
K620N |
probably benign |
Het |
| Nlrp10 |
T |
C |
7: 108,524,709 (GRCm39) |
E257G |
probably damaging |
Het |
| Nptn |
T |
G |
9: 58,548,012 (GRCm39) |
M139R |
possibly damaging |
Het |
| Nrk |
T |
G |
X: 137,889,544 (GRCm39) |
M1105R |
possibly damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,046 (GRCm39) |
C189* |
probably null |
Het |
| Or10d4 |
T |
G |
9: 39,580,374 (GRCm39) |
V7G |
probably damaging |
Het |
| Or1q1 |
T |
A |
2: 36,887,477 (GRCm39) |
Y218* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,612,248 (GRCm39) |
T403A |
probably benign |
Het |
| Pcyt1b |
A |
G |
X: 92,745,722 (GRCm39) |
E50G |
possibly damaging |
Het |
| Pigg |
C |
T |
5: 108,492,190 (GRCm39) |
T892I |
probably damaging |
Het |
| Ppig |
T |
G |
2: 69,566,327 (GRCm39) |
|
probably null |
Het |
| Prr12 |
A |
G |
7: 44,699,429 (GRCm39) |
|
probably benign |
Het |
| Slc5a5 |
G |
T |
8: 71,345,073 (GRCm39) |
A78E |
possibly damaging |
Het |
| Slc7a2 |
T |
G |
8: 41,364,095 (GRCm39) |
M436R |
probably benign |
Het |
| Sp7 |
T |
A |
15: 102,267,690 (GRCm39) |
M39L |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,653,134 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,068,556 (GRCm39) |
S3077P |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,681,371 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
C |
T |
1: 180,800,353 (GRCm39) |
T714I |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,193,028 (GRCm39) |
L535P |
probably damaging |
Het |
| Tuba8 |
A |
C |
6: 121,197,470 (GRCm39) |
N44T |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,926,039 (GRCm39) |
|
probably benign |
Het |
| Zfp654 |
A |
T |
16: 64,605,391 (GRCm39) |
I396K |
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 |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation