Incidental Mutation 'IGL02619:Hk3'
| ID |
300760 |
| 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: 0.072)
|
| Stock # |
IGL02619
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55153798-55169198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55162107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 133
(C133S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052949]
[ENSMUST00000123097]
[ENSMUST00000126234]
[ENSMUST00000132309]
[ENSMUST00000148221]
[ENSMUST00000153665]
|
| AlphaFold |
Q3TRM8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052949
AA Change: C188S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: C188S
| 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 damaging
Transcript: ENSMUST00000123097
AA Change: C188S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: C188S
| 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: C188S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: C188S
| 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 |
noncoding transcript
Transcript: ENSMUST00000135983
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149644
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153665
AA Change: C133S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: C133S
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
T |
1: 179,620,016 (GRCm39) |
G220E |
possibly damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,321,504 (GRCm39) |
I101T |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Camkk2 |
A |
T |
5: 122,902,298 (GRCm39) |
C4S |
probably damaging |
Het |
| Ccdc174 |
T |
A |
6: 91,876,538 (GRCm39) |
D458E |
possibly damaging |
Het |
| Cercam |
A |
G |
2: 29,770,686 (GRCm39) |
N419S |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,512,083 (GRCm39) |
N551S |
probably damaging |
Het |
| Cldn18 |
T |
A |
9: 99,580,988 (GRCm39) |
I87F |
probably damaging |
Het |
| Ctso |
T |
A |
3: 81,848,836 (GRCm39) |
|
probably benign |
Het |
| Ddhd2 |
C |
A |
8: 26,236,981 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
T |
A |
9: 45,359,094 (GRCm39) |
Y118N |
probably damaging |
Het |
| Ece1 |
C |
T |
4: 137,666,044 (GRCm39) |
A296V |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,766 (GRCm39) |
I115F |
possibly damaging |
Het |
| Fkbp9 |
T |
A |
6: 56,827,609 (GRCm39) |
N143K |
probably damaging |
Het |
| Foxk2 |
G |
T |
11: 121,190,402 (GRCm39) |
|
probably benign |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,529 (GRCm39) |
K33E |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,547,530 (GRCm39) |
|
probably benign |
Het |
| Kbtbd3 |
C |
T |
9: 4,331,252 (GRCm39) |
A542V |
probably damaging |
Het |
| Lrch2 |
A |
C |
X: 146,263,537 (GRCm39) |
V363G |
probably damaging |
Het |
| Lrch2 |
C |
T |
X: 146,302,131 (GRCm39) |
C264Y |
probably damaging |
Het |
| Lrrc56 |
C |
A |
7: 140,787,546 (GRCm39) |
|
probably benign |
Het |
| Lrtm2 |
C |
T |
6: 119,294,199 (GRCm39) |
V311M |
probably damaging |
Het |
| N4bp1 |
G |
T |
8: 87,587,529 (GRCm39) |
Q470K |
probably benign |
Het |
| Naa15 |
A |
C |
3: 51,367,552 (GRCm39) |
D575A |
probably benign |
Het |
| Ncaph |
A |
T |
2: 126,969,456 (GRCm39) |
V69D |
probably damaging |
Het |
| Nlrp5 |
G |
A |
7: 23,123,489 (GRCm39) |
|
probably null |
Het |
| Nmbr |
A |
G |
10: 14,636,331 (GRCm39) |
D100G |
probably damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,250,553 (GRCm39) |
V588M |
possibly damaging |
Het |
| Or4b13 |
G |
T |
2: 90,082,849 (GRCm39) |
T161N |
probably damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,949 (GRCm39) |
|
probably benign |
Het |
| Osmr |
C |
A |
15: 6,871,475 (GRCm39) |
R314M |
probably damaging |
Het |
| Pcdhb16 |
C |
T |
18: 37,611,270 (GRCm39) |
Q77* |
probably null |
Het |
| Pglyrp4 |
G |
A |
3: 90,642,955 (GRCm39) |
|
probably null |
Het |
| Ptprh |
A |
G |
7: 4,552,498 (GRCm39) |
F922S |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,418,673 (GRCm39) |
Q813L |
possibly damaging |
Het |
| Sgtb |
A |
G |
13: 104,254,922 (GRCm39) |
N64S |
probably benign |
Het |
| Slc5a12 |
T |
C |
2: 110,471,201 (GRCm39) |
V481A |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,149,349 (GRCm39) |
V454A |
probably benign |
Het |
| Sntg2 |
C |
A |
12: 30,317,025 (GRCm39) |
|
probably null |
Het |
| Synj1 |
C |
T |
16: 90,770,933 (GRCm39) |
V499I |
probably damaging |
Het |
| Tmco1 |
T |
C |
1: 167,153,597 (GRCm39) |
|
probably benign |
Het |
| Tmem38b |
T |
C |
4: 53,848,871 (GRCm39) |
I92T |
probably damaging |
Het |
| Tmem9 |
T |
C |
1: 135,955,145 (GRCm39) |
V93A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,625,582 (GRCm39) |
R15080S |
possibly damaging |
Het |
| Ube2e3 |
T |
C |
2: 78,749,065 (GRCm39) |
I138T |
probably damaging |
Het |
| Urgcp |
A |
G |
11: 5,665,752 (GRCm39) |
I862T |
possibly damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,603 (GRCm39) |
I165N |
probably benign |
Het |
| Washc4 |
G |
A |
10: 83,394,717 (GRCm39) |
V316I |
possibly damaging |
Het |
| Zfp111 |
A |
T |
7: 23,899,113 (GRCm39) |
L166Q |
possibly damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,597,718 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,508,793 (GRCm39) |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation