Incidental Mutation 'IGL02903:Hkdc1'
ID |
363716 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hkdc1
|
Ensembl Gene |
ENSMUSG00000020080 |
Gene Name |
hexokinase domain containing 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
IGL02903
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
62218916-62258270 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 62235970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020277]
|
AlphaFold |
Q91W97 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020277
|
SMART Domains |
Protein: ENSMUSP00000020277 Gene: ENSMUSG00000020080
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox5 |
T |
G |
6: 116,397,296 (GRCm39) |
N296T |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,045,004 (GRCm39) |
E301K |
probably damaging |
Het |
Astn1 |
A |
G |
1: 158,516,120 (GRCm39) |
S1237G |
probably damaging |
Het |
Atf6 |
G |
A |
1: 170,627,283 (GRCm39) |
P394S |
probably benign |
Het |
Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
C4bp |
G |
A |
1: 130,583,722 (GRCm39) |
T82I |
probably damaging |
Het |
Cask |
A |
T |
X: 13,418,686 (GRCm39) |
|
probably benign |
Het |
Cenpf |
A |
T |
1: 189,379,073 (GRCm39) |
S2906T |
probably damaging |
Het |
Cfl1 |
T |
C |
19: 5,542,828 (GRCm39) |
F103L |
probably benign |
Het |
Chrnb3 |
A |
T |
8: 27,876,834 (GRCm39) |
T83S |
probably damaging |
Het |
Cmtr2 |
A |
G |
8: 110,949,510 (GRCm39) |
T607A |
probably benign |
Het |
Cplane1 |
G |
T |
15: 8,299,262 (GRCm39) |
R3150M |
unknown |
Het |
Cplane1 |
G |
T |
15: 8,299,263 (GRCm39) |
R3150S |
unknown |
Het |
Cts7 |
A |
T |
13: 61,504,440 (GRCm39) |
|
probably benign |
Het |
Dgkz |
A |
T |
2: 91,770,307 (GRCm39) |
Y514N |
possibly damaging |
Het |
Dmrtc1b |
T |
A |
X: 101,757,173 (GRCm39) |
L206Q |
probably benign |
Het |
Dus3l |
C |
T |
17: 57,075,363 (GRCm39) |
L397F |
probably damaging |
Het |
Gm6356 |
C |
T |
14: 6,973,735 (GRCm38) |
G27E |
probably damaging |
Het |
Jkampl |
A |
G |
6: 73,446,103 (GRCm39) |
Y149H |
probably damaging |
Het |
Kcmf1 |
A |
T |
6: 72,835,866 (GRCm39) |
V21E |
possibly damaging |
Het |
Kcnh4 |
T |
A |
11: 100,648,480 (GRCm39) |
T75S |
possibly damaging |
Het |
Lemd2 |
A |
G |
17: 27,412,184 (GRCm39) |
|
probably benign |
Het |
Magee1 |
G |
T |
X: 104,166,945 (GRCm39) |
R910L |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,307,092 (GRCm39) |
|
probably benign |
Het |
Mfsd4b3-ps |
T |
A |
10: 39,823,639 (GRCm39) |
E207V |
possibly damaging |
Het |
Or2ag15 |
A |
G |
7: 106,340,917 (GRCm39) |
S75P |
probably damaging |
Het |
Or7a38 |
A |
G |
10: 78,753,250 (GRCm39) |
D192G |
probably damaging |
Het |
Pappa |
T |
C |
4: 65,180,217 (GRCm39) |
V1026A |
probably damaging |
Het |
Paxip1 |
A |
G |
5: 27,953,870 (GRCm39) |
L942P |
probably damaging |
Het |
Ppp1r12b |
A |
T |
1: 134,883,387 (GRCm39) |
L45Q |
probably benign |
Het |
Pramel23 |
A |
T |
4: 143,425,736 (GRCm39) |
M69K |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,502,447 (GRCm39) |
T824A |
possibly damaging |
Het |
Rfwd3 |
T |
C |
8: 112,004,861 (GRCm39) |
T574A |
probably benign |
Het |
Rsbn1 |
T |
C |
3: 103,835,885 (GRCm39) |
S308P |
probably damaging |
Het |
Shisal2b |
T |
A |
13: 105,000,118 (GRCm39) |
Y35F |
probably benign |
Het |
Smr2 |
A |
T |
5: 88,256,489 (GRCm39) |
I56F |
probably benign |
Het |
Wdfy4 |
C |
T |
14: 32,831,607 (GRCm39) |
R873H |
probably 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 |
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 |
R0549:Hkdc1
|
UTSW |
10 |
62,236,019 (GRCm39) |
missense |
probably benign |
|
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 |
|
|
Posted On |
2015-12-18 |