Incidental Mutation 'IGL00662:Khk'
ID |
11604 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Khk
|
Ensembl Gene |
ENSMUSG00000029162 |
Gene Name |
ketohexokinase |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
IGL00662
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
31078780-31088592 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (8 bp from exon) |
DNA Base Change (assembly) |
T to C
at 31087019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031051]
[ENSMUST00000031053]
[ENSMUST00000201571]
[ENSMUST00000201621]
[ENSMUST00000202752]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031051
|
SMART Domains |
Protein: ENSMUSP00000031051 Gene: ENSMUSG00000029161
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
SCOP:d2pvba_
|
113 |
188 |
1e-4 |
SMART |
Blast:EFh
|
120 |
148 |
1e-9 |
BLAST |
Blast:EFh
|
164 |
189 |
4e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000031053
|
SMART Domains |
Protein: ENSMUSP00000031053 Gene: ENSMUSG00000029162
Domain | Start | End | E-Value | Type |
Pfam:PfkB
|
3 |
293 |
5.7e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117435
|
SMART Domains |
Protein: ENSMUSP00000114064 Gene: ENSMUSG00000029162
Domain | Start | End | E-Value | Type |
Pfam:PfkB
|
3 |
113 |
4.2e-15 |
PFAM |
Pfam:PfkB
|
112 |
339 |
1e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200978
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201571
|
SMART Domains |
Protein: ENSMUSP00000144226 Gene: ENSMUSG00000029162
Domain | Start | End | E-Value | Type |
Pfam:PfkB
|
3 |
70 |
2.4e-5 |
PFAM |
Pfam:PfkB
|
65 |
249 |
4.5e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201621
|
SMART Domains |
Protein: ENSMUSP00000144050 Gene: ENSMUSG00000029162
Domain | Start | End | E-Value | Type |
Pfam:PfkB
|
3 |
294 |
1.5e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202752
|
SMART Domains |
Protein: ENSMUSP00000143850 Gene: ENSMUSG00000029162
Domain | Start | End | E-Value | Type |
Pfam:PfkB
|
3 |
243 |
5.8e-18 |
PFAM |
|
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 ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for alleles that do not produce isoform A or isoforms A and C exhibit normal fertility, development, blood chemistry, and tissue metabolite levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg16l2 |
T |
C |
7: 100,939,103 (GRCm39) |
N587S |
probably benign |
Het |
Bcar3 |
C |
T |
3: 122,306,585 (GRCm39) |
A186V |
probably benign |
Het |
Bcr |
A |
T |
10: 75,003,932 (GRCm39) |
|
probably benign |
Het |
Cd207 |
A |
G |
6: 83,652,908 (GRCm39) |
I74T |
possibly damaging |
Het |
Cenpn |
T |
C |
8: 117,655,326 (GRCm39) |
|
probably null |
Het |
Chuk |
A |
T |
19: 44,085,649 (GRCm39) |
F228I |
possibly damaging |
Het |
Cmss1 |
T |
C |
16: 57,124,092 (GRCm39) |
D233G |
probably damaging |
Het |
Copg1 |
C |
T |
6: 87,879,352 (GRCm39) |
T466I |
possibly damaging |
Het |
Ctsll3 |
A |
G |
13: 60,946,756 (GRCm39) |
S288P |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,907,723 (GRCm39) |
I2760F |
possibly damaging |
Het |
Gpi1 |
A |
G |
7: 33,915,375 (GRCm39) |
|
probably benign |
Het |
Il18rap |
C |
T |
1: 40,581,081 (GRCm39) |
R318C |
probably benign |
Het |
Kcnk9 |
A |
G |
15: 72,417,924 (GRCm39) |
S69P |
probably benign |
Het |
Kctd18 |
T |
C |
1: 57,995,897 (GRCm39) |
T127A |
probably damaging |
Het |
Ncapg |
T |
A |
5: 45,850,502 (GRCm39) |
S703T |
possibly damaging |
Het |
Nup98 |
T |
A |
7: 101,844,194 (GRCm39) |
N47I |
probably damaging |
Het |
Rad1 |
A |
G |
15: 10,490,495 (GRCm39) |
N154S |
probably benign |
Het |
Rigi |
A |
G |
4: 40,220,389 (GRCm39) |
|
probably benign |
Het |
Slc35f5 |
T |
A |
1: 125,515,161 (GRCm39) |
L438H |
probably damaging |
Het |
Slc7a2 |
A |
G |
8: 41,358,659 (GRCm39) |
Y334C |
possibly damaging |
Het |
Spata17 |
T |
C |
1: 186,849,536 (GRCm39) |
N124S |
probably benign |
Het |
Tfap2c |
T |
C |
2: 172,393,438 (GRCm39) |
Y118H |
probably damaging |
Het |
Tnpo3 |
A |
T |
6: 29,565,845 (GRCm39) |
L503* |
probably null |
Het |
Utrn |
C |
T |
10: 12,540,705 (GRCm39) |
E1907K |
probably damaging |
Het |
Vav3 |
T |
A |
3: 109,435,708 (GRCm39) |
|
probably benign |
Het |
Vps13a |
T |
A |
19: 16,681,904 (GRCm39) |
K1033I |
probably damaging |
Het |
Zfp202 |
A |
G |
9: 40,122,339 (GRCm39) |
N367S |
probably benign |
Het |
|
Other mutations in Khk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01551:Khk
|
APN |
5 |
31,082,189 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02351:Khk
|
APN |
5 |
31,085,848 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02358:Khk
|
APN |
5 |
31,085,848 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03355:Khk
|
APN |
5 |
31,086,904 (GRCm39) |
missense |
probably benign |
0.44 |
R1608:Khk
|
UTSW |
5 |
31,087,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R1916:Khk
|
UTSW |
5 |
31,087,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R3816:Khk
|
UTSW |
5 |
31,084,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R3855:Khk
|
UTSW |
5 |
31,084,401 (GRCm39) |
missense |
probably benign |
0.04 |
R5033:Khk
|
UTSW |
5 |
31,087,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R5310:Khk
|
UTSW |
5 |
31,084,373 (GRCm39) |
missense |
probably benign |
0.08 |
R5843:Khk
|
UTSW |
5 |
31,079,275 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5878:Khk
|
UTSW |
5 |
31,088,219 (GRCm39) |
critical splice donor site |
probably null |
|
R8719:Khk
|
UTSW |
5 |
31,088,374 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9174:Khk
|
UTSW |
5 |
31,085,819 (GRCm39) |
missense |
probably benign |
0.38 |
R9222:Khk
|
UTSW |
5 |
31,079,141 (GRCm39) |
unclassified |
probably benign |
|
R9640:Khk
|
UTSW |
5 |
31,079,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |