Incidental Mutation 'R2322:Hykk'
| ID |
244779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hykk
|
| Ensembl Gene |
ENSMUSG00000035878 |
| Gene Name |
hydroxylysine kinase 1 |
| Synonyms |
C630028N24Rik, Agphd1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R2322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
54824574-54857208 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54853418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 247
(G247S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034848]
[ENSMUST00000039742]
[ENSMUST00000054018]
[ENSMUST00000171900]
[ENSMUST00000172407]
|
| AlphaFold |
Q5U5V2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034848
|
| SMART Domains |
Protein: ENSMUSP00000034848
Gene: ENSMUSG00000032301
| Domain | Start | End | E-Value | Type |
|---|
|
Proteasome_A_N
|
5 |
27 |
1.6e-9 |
SMART |
|
Pfam:Proteasome
|
28 |
216 |
1.5e-57 |
PFAM |
|
low complexity region
|
238 |
261 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039742
AA Change: G247S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878
AA Change: G247S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:APH
|
36 |
300 |
2.2e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054018
|
| SMART Domains |
Protein: ENSMUSP00000049861
Gene: ENSMUSG00000044820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
36 |
N/A |
INTRINSIC |
|
transmembrane domain
|
105 |
127 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164679
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171578
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171900
|
| SMART Domains |
Protein: ENSMUSP00000132368
Gene: ENSMUSG00000032301
| Domain | Start | End | E-Value | Type |
|---|
|
Proteasome_A_N
|
5 |
27 |
1.6e-9 |
SMART |
|
Pfam:Proteasome
|
28 |
139 |
1.2e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172407
|
| SMART Domains |
Protein: ENSMUSP00000126844
Gene: ENSMUSG00000032301
| Domain | Start | End | E-Value | Type |
|---|
|
Proteasome_A_N
|
5 |
27 |
1.6e-9 |
SMART |
|
Pfam:Proteasome
|
28 |
210 |
3.2e-56 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| AY358078 |
A |
G |
14: 52,042,147 (GRCm39) |
Y174C |
unknown |
Het |
| Bod1l |
A |
T |
5: 41,984,463 (GRCm39) |
V529E |
probably benign |
Het |
| Brinp3 |
A |
G |
1: 146,577,492 (GRCm39) |
T176A |
probably benign |
Het |
| Ccn2 |
T |
C |
10: 24,472,732 (GRCm39) |
M214T |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,467,922 (GRCm39) |
I272L |
probably benign |
Het |
| Cnr1 |
A |
G |
4: 33,944,514 (GRCm39) |
K301E |
probably damaging |
Het |
| Elavl1 |
A |
T |
8: 4,339,802 (GRCm39) |
L260H |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,274 (GRCm39) |
Y275C |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,007,847 (GRCm39) |
S96P |
probably damaging |
Het |
| Ky |
T |
C |
9: 102,414,990 (GRCm39) |
|
probably null |
Het |
| Mcu |
A |
C |
10: 59,290,766 (GRCm39) |
|
probably null |
Het |
| Or2y17 |
T |
G |
11: 49,231,476 (GRCm39) |
L39R |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,118 (GRCm39) |
C104R |
possibly damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,008,878 (GRCm39) |
R667Q |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,301,473 (GRCm39) |
T220A |
probably benign |
Het |
| St18 |
T |
A |
1: 6,914,348 (GRCm39) |
C766* |
probably null |
Het |
| St8sia4 |
C |
T |
1: 95,581,463 (GRCm39) |
R93H |
probably damaging |
Het |
| Tcim |
G |
C |
8: 24,928,726 (GRCm39) |
R63G |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,217,813 (GRCm39) |
S488P |
possibly damaging |
Het |
| Zhx3 |
T |
C |
2: 160,623,948 (GRCm39) |
D73G |
probably damaging |
Het |
|
| Other mutations in Hykk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02005:Hykk
|
APN |
9 |
54,827,842 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02890:Hykk
|
APN |
9 |
54,827,995 (GRCm39) |
missense |
probably benign |
0.04 |
|
hike
|
UTSW |
9 |
54,853,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
spatziergangen
|
UTSW |
9 |
54,828,010 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
BB001:Hykk
|
UTSW |
9 |
54,829,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:Hykk
|
UTSW |
9 |
54,829,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0070:Hykk
|
UTSW |
9 |
54,829,632 (GRCm39) |
splice site |
probably benign |
|
|
R0734:Hykk
|
UTSW |
9 |
54,853,716 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0830:Hykk
|
UTSW |
9 |
54,844,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Hykk
|
UTSW |
9 |
54,853,667 (GRCm39) |
missense |
probably benign |
|
|
R4632:Hykk
|
UTSW |
9 |
54,853,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4846:Hykk
|
UTSW |
9 |
54,827,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Hykk
|
UTSW |
9 |
54,853,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5410:Hykk
|
UTSW |
9 |
54,853,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6292:Hykk
|
UTSW |
9 |
54,828,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6416:Hykk
|
UTSW |
9 |
54,853,643 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6983:Hykk
|
UTSW |
9 |
54,853,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7261:Hykk
|
UTSW |
9 |
54,828,010 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7276:Hykk
|
UTSW |
9 |
54,853,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:Hykk
|
UTSW |
9 |
54,829,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8539:Hykk
|
UTSW |
9 |
54,844,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9646:Hykk
|
UTSW |
9 |
54,853,521 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Hykk
|
UTSW |
9 |
54,853,713 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCACATAAGACCCTGTGTC -3'
(R):5'- AAAGCCTGCCTCTCTACAGC -3'
Sequencing Primer
(F):5'- GACCCTGTGTCTCCCCC -3'
(R):5'- CCGTCAGGGGGATCACACTTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation