Incidental Mutation 'R5441:Hk3'
| ID |
427198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hk3
|
| Ensembl Gene |
ENSMUSG00000025877 |
| Gene Name |
hexokinase 3 |
| Synonyms |
|
| MMRRC Submission |
043006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5441 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55153798-55169198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55162869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 2
(E2G)
|
| 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: E57G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: E57G
| 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: E57G
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: E57G
| 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: E57G
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: E57G
| 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: E57G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117254
Gene: ENSMUSG00000025877
AA Change: E57G
| 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: E57G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149644
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153665
AA Change: E2G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: E2G
| 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 |
|
| Meta Mutation Damage Score |
0.5327 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
98% (56/57) |
| 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 |
|---|
| Abca12 |
A |
G |
1: 71,334,215 (GRCm39) |
Y1096H |
probably damaging |
Het |
| Aspa |
A |
T |
11: 73,196,420 (GRCm39) |
F261I |
probably damaging |
Het |
| Atm |
C |
A |
9: 53,427,767 (GRCm39) |
G448* |
probably null |
Het |
| Atmin |
T |
A |
8: 117,684,696 (GRCm39) |
D785E |
probably damaging |
Het |
| Car1 |
G |
C |
3: 14,841,364 (GRCm39) |
R90G |
probably damaging |
Het |
| Cdh11 |
T |
C |
8: 103,374,178 (GRCm39) |
D520G |
probably benign |
Het |
| Cers5 |
T |
A |
15: 99,649,119 (GRCm39) |
K50* |
probably null |
Het |
| Chad |
A |
T |
11: 94,459,118 (GRCm39) |
D340V |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,075,711 (GRCm39) |
I68T |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,856,339 (GRCm39) |
T2042M |
probably damaging |
Het |
| Fcrla |
T |
A |
1: 170,752,991 (GRCm39) |
|
probably benign |
Het |
| Fer1l4 |
T |
A |
2: 155,865,177 (GRCm39) |
D1608V |
probably benign |
Het |
| Fzd5 |
T |
A |
1: 64,774,576 (GRCm39) |
Q395L |
probably benign |
Het |
| Gm7664 |
T |
A |
13: 62,676,464 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,296,428 (GRCm39) |
E2677K |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,291,741 (GRCm39) |
L3411P |
possibly damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Lysmd2 |
C |
T |
9: 75,533,254 (GRCm39) |
H70Y |
possibly damaging |
Het |
| Msi2 |
A |
G |
11: 88,370,818 (GRCm39) |
|
probably benign |
Het |
| Msi2 |
G |
A |
11: 88,608,921 (GRCm39) |
|
probably benign |
Het |
| Napsa |
T |
A |
7: 44,230,817 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,153,578 (GRCm39) |
L710M |
probably damaging |
Het |
| Or10g1 |
T |
A |
14: 52,647,414 (GRCm39) |
K305M |
probably benign |
Het |
| Or12d13 |
T |
C |
17: 37,647,159 (GRCm39) |
|
probably null |
Het |
| Or5m13 |
T |
A |
2: 85,748,934 (GRCm39) |
F222I |
probably benign |
Het |
| Or6ae1 |
T |
C |
7: 139,742,564 (GRCm39) |
T100A |
probably benign |
Het |
| Or9a2 |
C |
T |
6: 41,748,782 (GRCm39) |
M150I |
probably benign |
Het |
| Plbd2 |
T |
A |
5: 120,637,147 (GRCm39) |
Y105F |
probably benign |
Het |
| Plppr5 |
A |
T |
3: 117,456,120 (GRCm39) |
I214F |
possibly damaging |
Het |
| Pramel34 |
A |
T |
5: 93,784,456 (GRCm39) |
M139K |
possibly damaging |
Het |
| Ptcd3 |
A |
G |
6: 71,858,505 (GRCm39) |
V655A |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,530,767 (GRCm39) |
L78P |
probably damaging |
Het |
| Ralgapa1 |
A |
C |
12: 55,766,408 (GRCm39) |
D1295E |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,299,846 (GRCm39) |
D192N |
probably damaging |
Het |
| Ropn1 |
A |
G |
16: 34,487,167 (GRCm39) |
I34M |
probably damaging |
Het |
| Rpe65 |
G |
T |
3: 159,310,038 (GRCm39) |
G104C |
probably damaging |
Het |
| Scgb2b27 |
T |
C |
7: 33,712,582 (GRCm39) |
|
probably benign |
Het |
| Sh3bgr |
T |
C |
16: 96,007,117 (GRCm39) |
I29T |
possibly damaging |
Het |
| Smg1 |
T |
C |
7: 117,794,304 (GRCm39) |
|
probably benign |
Het |
| Stim2 |
T |
A |
5: 54,232,712 (GRCm39) |
C68* |
probably null |
Het |
| Syne2 |
G |
A |
12: 76,035,917 (GRCm39) |
V3736I |
possibly damaging |
Het |
| Tbx19 |
T |
C |
1: 164,981,249 (GRCm39) |
N82D |
probably damaging |
Het |
| Tdp1 |
T |
A |
12: 99,876,544 (GRCm39) |
V353D |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,568,369 (GRCm39) |
I1352K |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 59,887,066 (GRCm39) |
T919A |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,676,062 (GRCm39) |
M373K |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,868,335 (GRCm39) |
|
probably null |
Het |
| Tpd52 |
A |
T |
3: 9,068,466 (GRCm39) |
Y16* |
probably null |
Het |
| Ube2o |
G |
A |
11: 116,435,268 (GRCm39) |
R507C |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,993,703 (GRCm39) |
F382L |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,160,122 (GRCm39) |
|
probably benign |
Het |
| Vmn1r207 |
T |
C |
13: 22,910,686 (GRCm39) |
|
noncoding transcript |
Het |
| Zan |
T |
A |
5: 137,435,013 (GRCm39) |
I2127F |
unknown |
Het |
| Zfp748 |
C |
A |
13: 67,688,737 (GRCm39) |
C841F |
probably damaging |
Het |
| Zic4 |
C |
A |
9: 91,266,253 (GRCm39) |
P299Q |
probably damaging |
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 |
|
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'- GCCATTGAAAAGGGCCTCAG -3'
(R):5'- TTTGAACAGCAAGCGAGTCG -3'
Sequencing Primer
(F):5'- CCATTGAAAAGGGCCTCAGAGATG -3'
(R):5'- TAGGCAGCCCCCAGGAAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation