Incidental Mutation 'R0549:Hkdc1'
| ID |
45028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hkdc1
|
| Ensembl Gene |
ENSMUSG00000020080 |
| Gene Name |
hexokinase domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
038741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R0549 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62218916-62258270 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62236019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 508
(T508S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020277]
|
| AlphaFold |
Q91W97 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020277
AA Change: T508S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020277
Gene: ENSMUSG00000020080
AA Change: T508S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
21 |
220 |
3.3e-71 |
PFAM |
|
Pfam:Hexokinase_2
|
225 |
459 |
5.6e-79 |
PFAM |
|
Pfam:Hexokinase_1
|
469 |
665 |
9.5e-76 |
PFAM |
|
Pfam:Hexokinase_2
|
670 |
904 |
5.1e-84 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159493
|
| Meta Mutation Damage Score |
0.0729 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
96% (48/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to genotyping. Mice heterozygous for a knock-out allele exhibit impaired glucose tolerance and female-specific increased in hepatic triglyceride levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
G |
17: 46,633,216 (GRCm39) |
F498L |
probably damaging |
Het |
| Adamts6 |
A |
T |
13: 104,433,763 (GRCm39) |
D64V |
possibly damaging |
Het |
| Agbl2 |
T |
C |
2: 90,620,187 (GRCm39) |
|
probably benign |
Het |
| Angptl3 |
A |
G |
4: 98,919,692 (GRCm39) |
S151G |
probably benign |
Het |
| Arhgap39 |
C |
T |
15: 76,619,086 (GRCm39) |
D833N |
probably damaging |
Het |
| C4b |
G |
T |
17: 34,954,389 (GRCm39) |
L927I |
probably damaging |
Het |
| Ccl3 |
T |
C |
11: 83,539,162 (GRCm39) |
T66A |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 110,036,674 (GRCm39) |
L618P |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,957,603 (GRCm39) |
T989A |
probably benign |
Het |
| Cfhr4 |
A |
T |
1: 139,667,226 (GRCm39) |
D377E |
probably damaging |
Het |
| Cnpy4 |
T |
C |
5: 138,185,899 (GRCm39) |
F18S |
possibly damaging |
Het |
| Col6a5 |
A |
G |
9: 105,781,778 (GRCm39) |
|
probably benign |
Het |
| Dppa2 |
G |
A |
16: 48,139,034 (GRCm39) |
R289H |
probably benign |
Het |
| Evx2 |
T |
C |
2: 74,489,478 (GRCm39) |
T96A |
probably benign |
Het |
| Frmd4a |
A |
G |
2: 4,608,778 (GRCm39) |
E577G |
possibly damaging |
Het |
| Gcgr |
G |
A |
11: 120,427,387 (GRCm39) |
G166S |
probably benign |
Het |
| Gm5316 |
T |
C |
6: 122,877,150 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
G |
A |
11: 57,119,799 (GRCm39) |
R292Q |
probably damaging |
Het |
| Hars2 |
T |
A |
18: 36,919,261 (GRCm39) |
|
probably null |
Het |
| Kif2b |
A |
T |
11: 91,467,410 (GRCm39) |
I291N |
probably damaging |
Het |
| Lmbrd1 |
A |
T |
1: 24,784,001 (GRCm39) |
T377S |
probably benign |
Het |
| Lrrc28 |
A |
G |
7: 67,278,090 (GRCm39) |
|
probably benign |
Het |
| Mmp3 |
A |
T |
9: 7,455,638 (GRCm39) |
N463I |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,196,065 (GRCm39) |
F578S |
probably damaging |
Het |
| Ncbp1 |
T |
A |
4: 46,168,476 (GRCm39) |
M608K |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,359,597 (GRCm39) |
F1412L |
probably damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,141,227 (GRCm39) |
W1083R |
probably damaging |
Het |
| Nrsn1 |
T |
C |
13: 25,446,241 (GRCm39) |
Y45C |
probably benign |
Het |
| Or3a1b |
T |
G |
11: 74,012,301 (GRCm39) |
M62R |
probably damaging |
Het |
| Osbpl7 |
G |
T |
11: 96,958,368 (GRCm39) |
R881L |
probably damaging |
Het |
| Papss1 |
A |
G |
3: 131,324,974 (GRCm39) |
E456G |
possibly damaging |
Het |
| Pbxip1 |
T |
A |
3: 89,350,899 (GRCm39) |
|
probably benign |
Het |
| Pcca |
A |
G |
14: 122,875,789 (GRCm39) |
|
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,695,414 (GRCm39) |
N511I |
probably damaging |
Het |
| Prpf39 |
A |
T |
12: 65,103,030 (GRCm39) |
I435F |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,355,908 (GRCm39) |
T4117M |
probably damaging |
Het |
| Sel1l2 |
A |
T |
2: 140,107,802 (GRCm39) |
M216K |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,864,417 (GRCm39) |
|
probably null |
Het |
| Sirt3 |
A |
T |
7: 140,449,400 (GRCm39) |
|
probably null |
Het |
| Smpd4 |
T |
C |
16: 17,457,176 (GRCm39) |
V378A |
probably benign |
Het |
| Svil |
T |
A |
18: 5,064,566 (GRCm39) |
S642T |
possibly damaging |
Het |
| Tcp10a |
A |
G |
17: 7,593,950 (GRCm39) |
K92E |
probably benign |
Het |
| Tmem144 |
T |
C |
3: 79,730,051 (GRCm39) |
D233G |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tnik |
T |
C |
3: 28,625,069 (GRCm39) |
S335P |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,679,150 (GRCm39) |
L4786P |
probably damaging |
Het |
| Utp11 |
A |
T |
4: 124,579,872 (GRCm39) |
|
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,641 (GRCm39) |
N241D |
probably damaging |
Het |
| Vmn2r11 |
A |
T |
5: 109,199,963 (GRCm39) |
C497S |
possibly damaging |
Het |
|
| Other mutations in Hkdc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Hkdc1
|
APN |
10 |
62,229,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01300:Hkdc1
|
APN |
10 |
62,231,040 (GRCm39) |
splice site |
probably benign |
|
|
IGL01415:Hkdc1
|
APN |
10 |
62,229,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01935:Hkdc1
|
APN |
10 |
62,236,165 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02903:Hkdc1
|
APN |
10 |
62,235,970 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03100:Hkdc1
|
APN |
10 |
62,253,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03154:Hkdc1
|
APN |
10 |
62,221,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0368:Hkdc1
|
UTSW |
10 |
62,247,486 (GRCm39) |
missense |
probably null |
0.04 |
|
R0667:Hkdc1
|
UTSW |
10 |
62,247,644 (GRCm39) |
splice site |
probably benign |
|
|
R0751:Hkdc1
|
UTSW |
10 |
62,234,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1779:Hkdc1
|
UTSW |
10 |
62,227,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Hkdc1
|
UTSW |
10 |
62,253,677 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2271:Hkdc1
|
UTSW |
10 |
62,253,677 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3831:Hkdc1
|
UTSW |
10 |
62,235,991 (GRCm39) |
missense |
probably benign |
|
|
R4480:Hkdc1
|
UTSW |
10 |
62,227,151 (GRCm39) |
missense |
probably benign |
|
|
R4561:Hkdc1
|
UTSW |
10 |
62,245,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4576:Hkdc1
|
UTSW |
10 |
62,221,622 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4655:Hkdc1
|
UTSW |
10 |
62,236,242 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4723:Hkdc1
|
UTSW |
10 |
62,236,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4810:Hkdc1
|
UTSW |
10 |
62,247,304 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5086:Hkdc1
|
UTSW |
10 |
62,231,053 (GRCm39) |
intron |
probably benign |
|
|
R5138:Hkdc1
|
UTSW |
10 |
62,234,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5781:Hkdc1
|
UTSW |
10 |
62,253,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5900:Hkdc1
|
UTSW |
10 |
62,244,445 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5982:Hkdc1
|
UTSW |
10 |
62,229,589 (GRCm39) |
missense |
probably benign |
|
|
R6418:Hkdc1
|
UTSW |
10 |
62,219,583 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6463:Hkdc1
|
UTSW |
10 |
62,229,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6612:Hkdc1
|
UTSW |
10 |
62,231,220 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6673:Hkdc1
|
UTSW |
10 |
62,239,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6761:Hkdc1
|
UTSW |
10 |
62,244,477 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6915:Hkdc1
|
UTSW |
10 |
62,237,711 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7114:Hkdc1
|
UTSW |
10 |
62,229,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7395:Hkdc1
|
UTSW |
10 |
62,221,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8498:Hkdc1
|
UTSW |
10 |
62,221,662 (GRCm39) |
missense |
probably benign |
|
|
R8777:Hkdc1
|
UTSW |
10 |
62,234,612 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8777-TAIL:Hkdc1
|
UTSW |
10 |
62,234,612 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8894:Hkdc1
|
UTSW |
10 |
62,244,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8989:Hkdc1
|
UTSW |
10 |
62,229,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9331:Hkdc1
|
UTSW |
10 |
62,236,114 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTAACCAAGTCATGCAGACTCCTCC -3'
(R):5'- AGACTGCTCACTATCTGACTGTCACC -3'
Sequencing Primer
(F):5'- ATGCAGACTCCTCCAACTTC -3'
(R):5'- ACTGGTCCCAAACTGTGATG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation