Incidental Mutation 'R5843:Khk'
| ID |
450532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Khk
|
| Ensembl Gene |
ENSMUSG00000029162 |
| Gene Name |
ketohexokinase |
| Synonyms |
|
| MMRRC Submission |
043224-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R5843 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31078780-31088592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31079275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 6
(I6V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031053]
[ENSMUST00000031055]
[ENSMUST00000201571]
[ENSMUST00000201621]
[ENSMUST00000202752]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031053
AA Change: I6V
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031053
Gene: ENSMUSG00000029162
AA Change: I6V
| 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: ENSMUST00000123885
AA Change: I6V
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000114540
Gene: ENSMUSG00000029162
AA Change: I6V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PfkB
|
3 |
243 |
2.5e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201571
AA Change: I6V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000144226
Gene: ENSMUSG00000029162
AA Change: I6V
| 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: I6V
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000144050
Gene: ENSMUSG00000029162
AA Change: I6V
| 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: I6V
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162
AA Change: I6V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PfkB
|
3 |
243 |
5.8e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,537,272 (GRCm39) |
T93A |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,232,312 (GRCm39) |
|
probably null |
Het |
| Ccnk |
T |
C |
12: 108,159,989 (GRCm39) |
V157A |
probably damaging |
Het |
| Cdh10 |
T |
C |
15: 18,985,286 (GRCm39) |
F317L |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,510,092 (GRCm39) |
I139T |
probably benign |
Het |
| Creld2 |
A |
T |
15: 88,710,632 (GRCm39) |
D349V |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,854,289 (GRCm39) |
D1660G |
probably damaging |
Het |
| Hipk3 |
A |
C |
2: 104,270,569 (GRCm39) |
S470R |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,912 (GRCm39) |
I37K |
probably damaging |
Het |
| Hpcal1 |
T |
C |
12: 17,841,200 (GRCm39) |
F193L |
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,497,296 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,375,828 (GRCm39) |
N1349S |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,818,896 (GRCm39) |
V629A |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Muc13 |
A |
G |
16: 33,626,421 (GRCm39) |
Y320C |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,385,333 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,209,076 (GRCm39) |
R234S |
probably benign |
Het |
| Or5ac21 |
T |
A |
16: 59,123,724 (GRCm39) |
D69E |
probably damaging |
Het |
| Parpbp |
A |
G |
10: 87,969,053 (GRCm39) |
L131P |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,454,093 (GRCm39) |
W24R |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,369,060 (GRCm39) |
N677K |
probably damaging |
Het |
| Rbm39 |
A |
T |
2: 156,004,793 (GRCm39) |
D181E |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 52,042,293 (GRCm39) |
T220A |
possibly damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,021 (GRCm39) |
I274V |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,661,938 (GRCm39) |
N257I |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,080,113 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
T |
C |
1: 180,800,398 (GRCm39) |
|
probably null |
Het |
| Traf5 |
T |
C |
1: 191,729,446 (GRCm39) |
D535G |
possibly damaging |
Het |
| Trank1 |
C |
T |
9: 111,194,928 (GRCm39) |
S984L |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,833,539 (GRCm39) |
T1573A |
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,550,360 (GRCm39) |
I835N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,290,947 (GRCm39) |
I125N |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,307,129 (GRCm39) |
|
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,596,405 (GRCm39) |
F624S |
possibly damaging |
Het |
| Zc3h12c |
G |
T |
9: 52,027,982 (GRCm39) |
T460K |
probably benign |
Het |
| Zfp865 |
C |
A |
7: 5,033,416 (GRCm39) |
T467K |
probably benign |
Het |
| Zim1 |
A |
G |
7: 6,680,697 (GRCm39) |
V322A |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATTACTAGTGCGCTTTCG -3'
(R):5'- CTATCCCTGGTTTAGCAGCC -3'
Sequencing Primer
(F):5'- ATTGGCCGGGCTAGGTAAC -3'
(R):5'- TTTAGCAGCCGATTAGCAGTGAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation