Incidental Mutation 'R6314:Hk3'
ID |
509956 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hk3
|
Ensembl Gene |
ENSMUSG00000025877 |
Gene Name |
hexokinase 3 |
Synonyms |
|
MMRRC Submission |
044471-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R6314 (G1)
|
Quality Score |
189.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
55153798-55169198 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55161393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 156
(R156G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115227
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052949]
[ENSMUST00000123097]
[ENSMUST00000126234]
[ENSMUST00000132309]
[ENSMUST00000148221]
[ENSMUST00000153665]
|
AlphaFold |
Q3TRM8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052949
AA Change: R211G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000051215 Gene: ENSMUSG00000025877 AA Change: R211G
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: ENSMUST00000123097
AA Change: R211G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000116717 Gene: ENSMUSG00000025877 AA Change: R211G
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 benign
Transcript: ENSMUST00000126234
AA Change: R211G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000123233 Gene: ENSMUSG00000025877 AA Change: R211G
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 benign
Transcript: ENSMUST00000153665
AA Change: R156G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000115227 Gene: ENSMUSG00000025877 AA Change: R156G
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
Validation Efficiency |
98% (54/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449I24Rik |
A |
C |
5: 146,441,702 (GRCm39) |
E283A |
possibly damaging |
Het |
Aadacl2 |
A |
T |
3: 59,924,824 (GRCm39) |
R130S |
probably damaging |
Het |
Adam22 |
A |
T |
5: 8,177,365 (GRCm39) |
C581* |
probably null |
Het |
Adss2 |
T |
A |
1: 177,595,334 (GRCm39) |
Y402F |
probably damaging |
Het |
Agfg1 |
A |
T |
1: 82,836,155 (GRCm39) |
Q13H |
probably damaging |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Armc8 |
A |
G |
9: 99,417,937 (GRCm39) |
S74P |
probably benign |
Het |
Atn1 |
A |
T |
6: 124,724,013 (GRCm39) |
|
probably benign |
Het |
Ddx5 |
T |
C |
11: 106,679,347 (GRCm39) |
|
probably benign |
Het |
Depdc1a |
T |
A |
3: 159,204,051 (GRCm39) |
H33Q |
probably damaging |
Het |
Dnmt3l |
A |
T |
10: 77,895,521 (GRCm39) |
Y58F |
probably benign |
Het |
Efemp1 |
C |
T |
11: 28,864,603 (GRCm39) |
T219I |
probably benign |
Het |
Enpp2 |
T |
C |
15: 54,729,366 (GRCm39) |
N436D |
probably damaging |
Het |
Epb41l4a |
A |
G |
18: 34,007,208 (GRCm39) |
V261A |
probably damaging |
Het |
Erap1 |
A |
T |
13: 74,822,894 (GRCm39) |
K802N |
probably damaging |
Het |
Fads2b |
T |
C |
2: 85,332,520 (GRCm39) |
N168S |
probably benign |
Het |
Fcrl6 |
T |
A |
1: 172,426,186 (GRCm39) |
|
probably null |
Het |
Fv1 |
A |
T |
4: 147,954,156 (GRCm39) |
|
probably null |
Het |
Gdpd4 |
T |
A |
7: 97,623,160 (GRCm39) |
M257K |
probably damaging |
Het |
Gorab |
T |
C |
1: 163,224,658 (GRCm39) |
S48G |
probably damaging |
Het |
Gxylt2 |
A |
T |
6: 100,775,164 (GRCm39) |
H361L |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,128,223 (GRCm39) |
Y300H |
possibly damaging |
Het |
Hook3 |
T |
A |
8: 26,578,136 (GRCm39) |
M118L |
probably benign |
Het |
Lmnb2 |
G |
A |
10: 80,745,804 (GRCm39) |
R92C |
probably damaging |
Het |
Lsr |
A |
G |
7: 30,658,024 (GRCm39) |
L380P |
probably damaging |
Het |
Mettl16 |
A |
T |
11: 74,686,832 (GRCm39) |
R204* |
probably null |
Het |
Or5h18 |
A |
T |
16: 58,847,820 (GRCm39) |
I150K |
probably benign |
Het |
Or7a37 |
A |
G |
10: 78,806,179 (GRCm39) |
H232R |
probably benign |
Het |
Or7e173 |
C |
A |
9: 19,938,958 (GRCm39) |
S92I |
probably damaging |
Het |
Orc3 |
C |
A |
4: 34,579,797 (GRCm39) |
G494C |
possibly damaging |
Het |
Pcare |
T |
G |
17: 72,059,452 (GRCm39) |
Q75P |
probably benign |
Het |
Pip5k1a |
G |
T |
3: 94,975,432 (GRCm39) |
T346K |
probably damaging |
Het |
Pitx1 |
A |
T |
13: 55,974,166 (GRCm39) |
S222T |
possibly damaging |
Het |
Pm20d1 |
T |
C |
1: 131,743,754 (GRCm39) |
V473A |
possibly damaging |
Het |
Pnpla6 |
C |
T |
8: 3,571,572 (GRCm39) |
L168F |
probably benign |
Het |
Pramel13 |
T |
C |
4: 144,121,157 (GRCm39) |
D289G |
probably damaging |
Het |
Reln |
C |
A |
5: 22,357,482 (GRCm39) |
E195* |
probably null |
Het |
S100a7l2 |
A |
T |
3: 90,995,683 (GRCm39) |
V73E |
possibly damaging |
Het |
Sec24b |
A |
T |
3: 129,800,894 (GRCm39) |
|
probably null |
Het |
Selenbp1 |
A |
G |
3: 94,844,576 (GRCm39) |
N78D |
probably damaging |
Het |
Serpina1d |
T |
A |
12: 103,730,959 (GRCm39) |
T340S |
probably benign |
Het |
Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
Snap29 |
T |
C |
16: 17,237,183 (GRCm39) |
M98T |
probably benign |
Het |
Son |
G |
T |
16: 91,457,298 (GRCm39) |
|
probably benign |
Het |
Spef1l |
A |
C |
7: 139,556,402 (GRCm39) |
L195R |
possibly damaging |
Het |
Tgfbi |
A |
T |
13: 56,773,976 (GRCm39) |
T252S |
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,554,996 (GRCm39) |
N296S |
possibly damaging |
Het |
Tmem225 |
C |
G |
9: 40,062,016 (GRCm39) |
T210S |
probably benign |
Het |
Tmem245 |
A |
T |
4: 56,888,592 (GRCm39) |
V778D |
possibly damaging |
Het |
Tor4a |
T |
C |
2: 25,084,794 (GRCm39) |
R370G |
possibly damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,698,625 (GRCm39) |
H442R |
probably benign |
Het |
Vmn1r20 |
A |
T |
6: 57,409,042 (GRCm39) |
M123L |
probably benign |
Het |
Zfp622 |
T |
C |
15: 25,987,067 (GRCm39) |
V273A |
probably benign |
Het |
Zhx1 |
C |
T |
15: 57,917,398 (GRCm39) |
V283I |
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 |
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 |
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'- TTCGTCATAGAAGGAGCCCC -3'
(R):5'- AATCTAGGTTCCAAGGCATATCTTG -3'
Sequencing Primer
(F):5'- ACTCGATGCTGACACAGGTG -3'
(R):5'- CAAGGCATATCTTGGGATGCC -3'
|
Posted On |
2018-04-02 |