Incidental Mutation 'IGL01551:Khk'
| ID |
93273 |
| 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 # |
IGL01551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31078780-31088592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31082189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 67
(H67N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031053]
[ENSMUST00000031055]
[ENSMUST00000201571]
[ENSMUST00000201621]
[ENSMUST00000202752]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031053
AA Change: H67N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031053
Gene: ENSMUSG00000029162
AA Change: H67N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PfkB
|
3 |
293 |
5.7e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031055
|
| SMART Domains |
Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
57 |
128 |
1.2e-19 |
PFAM |
|
low complexity region
|
141 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
171 |
N/A |
INTRINSIC |
|
coiled coil region
|
174 |
210 |
N/A |
INTRINSIC |
|
coiled coil region
|
237 |
263 |
N/A |
INTRINSIC |
|
coiled coil region
|
310 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
400 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
422 |
474 |
9.62e-7 |
PROSPERO |
|
coiled coil region
|
527 |
563 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
639 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
704 |
758 |
9.62e-7 |
PROSPERO |
|
low complexity region
|
780 |
810 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
813 |
870 |
3.3e-10 |
PFAM |
|
Pfam:C1q
|
873 |
1008 |
1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117435
AA Change: H67N
|
| SMART Domains |
Protein: ENSMUSP00000114064
Gene: ENSMUSG00000029162
AA Change: H67N
| 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: ENSMUST00000201169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201571
AA Change: H67N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144226
Gene: ENSMUSG00000029162
AA Change: H67N
| 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
AA Change: H67N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144050
Gene: ENSMUSG00000029162
AA Change: H67N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PfkB
|
3 |
294 |
1.5e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202368
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202752
AA Change: H67N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162
AA Change: H67N
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,924,147 (GRCm39) |
S103L |
possibly damaging |
Het |
| Acvr2a |
G |
A |
2: 48,787,071 (GRCm39) |
A389T |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,784,001 (GRCm39) |
S1037P |
probably damaging |
Het |
| Adcyap1 |
A |
G |
17: 93,511,446 (GRCm39) |
Y140C |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,404,183 (GRCm39) |
N569S |
probably damaging |
Het |
| Bin1 |
G |
T |
18: 32,510,511 (GRCm39) |
V18L |
probably benign |
Het |
| Ccdc158 |
A |
G |
5: 92,814,620 (GRCm39) |
Y69H |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,611 (GRCm39) |
R134G |
possibly damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,441,860 (GRCm39) |
|
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,134,691 (GRCm39) |
|
probably benign |
Het |
| Gm10961 |
A |
G |
3: 107,540,281 (GRCm39) |
|
probably benign |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,216 (GRCm39) |
D369G |
probably benign |
Het |
| Ifi202b |
T |
A |
1: 173,798,928 (GRCm39) |
K373N |
probably benign |
Het |
| Kif7 |
T |
A |
7: 79,360,314 (GRCm39) |
|
probably null |
Het |
| Mbd1 |
C |
T |
18: 74,402,614 (GRCm39) |
|
probably benign |
Het |
| Mtor |
A |
G |
4: 148,556,494 (GRCm39) |
H968R |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,673,157 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,618 (GRCm39) |
T250A |
probably benign |
Het |
| Or2f1b |
A |
G |
6: 42,739,046 (GRCm39) |
D20G |
probably damaging |
Het |
| Or5d40 |
A |
T |
2: 88,015,629 (GRCm39) |
H136L |
probably benign |
Het |
| Otol1 |
T |
C |
3: 69,935,057 (GRCm39) |
F350L |
probably damaging |
Het |
| Pramel22 |
T |
C |
4: 143,383,042 (GRCm39) |
N59S |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,352,342 (GRCm39) |
|
probably benign |
Het |
| Rps6kc1 |
A |
T |
1: 190,505,837 (GRCm39) |
S1042T |
possibly damaging |
Het |
| Rtn1 |
C |
T |
12: 72,263,709 (GRCm39) |
V741I |
possibly damaging |
Het |
| Tor2a |
T |
A |
2: 32,650,595 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,688 (GRCm39) |
I63V |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,343,849 (GRCm39) |
D2030G |
probably benign |
Het |
| Zfp326 |
T |
C |
5: 106,036,451 (GRCm39) |
S121P |
probably damaging |
Het |
|
| Other mutations in Khk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Khk
|
APN |
5 |
31,087,019 (GRCm39) |
critical splice donor site |
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 |
2013-12-09 |
Incidental Mutation