Incidental Mutation 'R5872:Hk3'
| ID |
455267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hk3
|
| Ensembl Gene |
ENSMUSG00000025877 |
| Gene Name |
hexokinase 3 |
| Synonyms |
|
| MMRRC Submission |
044079-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5872 (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 A
at 55158617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 528
(I528F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026994]
[ENSMUST00000052949]
[ENSMUST00000109994]
[ENSMUST00000123097]
[ENSMUST00000126234]
[ENSMUST00000132309]
[ENSMUST00000153665]
[ENSMUST00000148221]
|
| 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: I583F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877
AA Change: I583F
| 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: I538F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877
AA Change: I538F
| 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: I583F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877
AA Change: I583F
| 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 damaging
Transcript: ENSMUST00000153665
AA Change: I528F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877
AA Change: I528F
| 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: ENSMUST00000149644
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148221
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.6%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,382,309 (GRCm39) |
S1219P |
possibly damaging |
Het |
| A2ml1 |
A |
G |
6: 128,538,489 (GRCm39) |
Y644H |
probably damaging |
Het |
| Abca9 |
T |
G |
11: 110,007,902 (GRCm39) |
R1232S |
possibly damaging |
Het |
| Acsf2 |
C |
T |
11: 94,463,975 (GRCm39) |
V70M |
probably benign |
Het |
| Ampd1 |
A |
G |
3: 102,986,446 (GRCm39) |
I42V |
probably benign |
Het |
| Arhgap10 |
A |
G |
8: 78,071,267 (GRCm39) |
|
probably null |
Het |
| Atp1a4 |
A |
T |
1: 172,071,975 (GRCm39) |
L432Q |
probably damaging |
Het |
| Bbs12 |
T |
A |
3: 37,374,598 (GRCm39) |
C349S |
possibly damaging |
Het |
| Bnc2 |
A |
G |
4: 84,211,007 (GRCm39) |
V479A |
possibly damaging |
Het |
| Cald1 |
A |
T |
6: 34,748,043 (GRCm39) |
K761* |
probably null |
Het |
| Cd177 |
C |
T |
7: 24,451,688 (GRCm39) |
G443R |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,292,410 (GRCm39) |
D375G |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,309,268 (GRCm39) |
Y174H |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,233,943 (GRCm39) |
M382V |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,531,926 (GRCm39) |
S782N |
unknown |
Het |
| Crtac1 |
C |
T |
19: 42,297,629 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,445,923 (GRCm39) |
D3683V |
probably damaging |
Het |
| Ctrc |
A |
G |
4: 141,572,354 (GRCm39) |
L62P |
probably damaging |
Het |
| Cyp3a57 |
A |
T |
5: 145,307,867 (GRCm39) |
K208* |
probably null |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,122 (GRCm39) |
L313Q |
probably damaging |
Het |
| Dtl |
A |
G |
1: 191,278,680 (GRCm39) |
L394P |
probably benign |
Het |
| Ehhadh |
T |
C |
16: 21,585,305 (GRCm39) |
E192G |
probably benign |
Het |
| Fads2 |
T |
C |
19: 10,059,997 (GRCm39) |
I226V |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,161,208 (GRCm39) |
E3174G |
probably damaging |
Het |
| Galnt14 |
C |
T |
17: 73,881,826 (GRCm39) |
R91Q |
probably damaging |
Het |
| Hdhd5 |
G |
T |
6: 120,487,252 (GRCm39) |
D368E |
probably benign |
Het |
| Il10ra |
A |
C |
9: 45,166,951 (GRCm39) |
S533R |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,305,950 (GRCm39) |
K169N |
probably benign |
Het |
| Lrrc17 |
A |
G |
5: 21,780,264 (GRCm39) |
T413A |
probably benign |
Het |
| Mcm2 |
C |
T |
6: 88,861,053 (GRCm39) |
D882N |
probably benign |
Het |
| Met |
T |
C |
6: 17,562,197 (GRCm39) |
V1186A |
probably damaging |
Het |
| Msh5 |
C |
T |
17: 35,248,628 (GRCm39) |
|
probably null |
Het |
| Nav3 |
T |
C |
10: 109,600,648 (GRCm39) |
I1326M |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,850,896 (GRCm38) |
I314V |
probably benign |
Het |
| Or10g1 |
A |
C |
14: 52,648,225 (GRCm39) |
F35V |
probably damaging |
Het |
| Or8b53 |
T |
A |
9: 38,667,412 (GRCm39) |
Y143N |
probably benign |
Het |
| Pim1 |
A |
G |
17: 29,712,720 (GRCm39) |
E211G |
probably damaging |
Het |
| Plaat1 |
T |
A |
16: 29,039,189 (GRCm39) |
Y90N |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,704,144 (GRCm39) |
D903E |
probably benign |
Het |
| Ptpn14 |
T |
C |
1: 189,583,229 (GRCm39) |
L692P |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,977,138 (GRCm39) |
C387R |
probably damaging |
Het |
| Qrfprl |
A |
G |
6: 65,418,369 (GRCm39) |
|
probably benign |
Het |
| Scarb1 |
A |
G |
5: 125,381,341 (GRCm39) |
Y68H |
possibly damaging |
Het |
| Shisa6 |
T |
A |
11: 66,108,800 (GRCm39) |
D359V |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,063,817 (GRCm39) |
S1297P |
probably damaging |
Het |
| Sik1 |
T |
C |
17: 32,069,125 (GRCm39) |
D250G |
probably damaging |
Het |
| Slamf7 |
A |
G |
1: 171,466,635 (GRCm39) |
L190S |
probably damaging |
Het |
| Slc22a3 |
G |
A |
17: 12,652,355 (GRCm39) |
P423L |
probably damaging |
Het |
| Slc35e2 |
A |
T |
4: 155,697,137 (GRCm39) |
E217V |
probably damaging |
Het |
| Spocd1 |
A |
T |
4: 129,850,254 (GRCm39) |
N760I |
probably damaging |
Het |
| Tas2r136 |
G |
T |
6: 132,754,294 (GRCm39) |
P278T |
possibly damaging |
Het |
| Tchhl1 |
A |
T |
3: 93,377,836 (GRCm39) |
Q180L |
probably benign |
Het |
| Tmem151b |
T |
A |
17: 45,858,010 (GRCm39) |
T79S |
probably benign |
Het |
| Tomm70a |
T |
A |
16: 56,965,105 (GRCm39) |
C430S |
probably benign |
Het |
| Trbv16 |
T |
A |
6: 41,128,936 (GRCm39) |
L40Q |
probably damaging |
Het |
| Trmt1l |
T |
G |
1: 151,316,594 (GRCm39) |
I32S |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,152,641 (GRCm39) |
T2011A |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,569,652 (GRCm39) |
W1358* |
probably null |
Het |
| Usp31 |
T |
G |
7: 121,248,698 (GRCm39) |
H915P |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,151,377 (GRCm39) |
M79K |
possibly damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,369,222 (GRCm39) |
I117T |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,869,497 (GRCm39) |
H2667R |
possibly damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,305,962 (GRCm39) |
T912M |
possibly damaging |
Het |
| Zfp709 |
G |
A |
8: 72,643,363 (GRCm39) |
C264Y |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,156,898 (GRCm39) |
I467V |
probably benign |
Het |
| Zxdc |
A |
T |
6: 90,347,281 (GRCm39) |
D214V |
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 |
|
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 |
|
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'- TGCCCACTCTTAAAGGGCAC -3'
(R):5'- TGATTTCCTGGCCTTGGACCTAG -3'
Sequencing Primer
(F):5'- CACTCTTAAAGGGCACATGGATCG -3'
(R):5'- AACTTCCGGGTCCTGTTGGTAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation