Incidental Mutation 'IGL00795:Hycc2'
| ID |
12612 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hycc2
|
| Ensembl Gene |
ENSMUSG00000038174 |
| Gene Name |
hyccin PI4KA lipid kinase complex subunit 2 |
| Synonyms |
Fam126b, D1Ertd53e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.865)
|
| Stock # |
IGL00795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
58561965-58625482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58591338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 102
(E102K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038372]
[ENSMUST00000097724]
[ENSMUST00000161000]
[ENSMUST00000161600]
[ENSMUST00000187717]
|
| AlphaFold |
Q8C729 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038372
AA Change: E102K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174
AA Change: E102K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
20 |
330 |
1.7e-137 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097724
AA Change: E102K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: E102K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
22 |
330 |
3.3e-126 |
PFAM |
|
low complexity region
|
374 |
399 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161000
|
| SMART Domains |
Protein: ENSMUSP00000125653
Gene: ENSMUSG00000038174
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
20 |
99 |
3e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161600
AA Change: E102K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174
AA Change: E102K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
20 |
330 |
1.7e-137 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187717
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Ap1m1 |
A |
G |
8: 73,007,353 (GRCm39) |
N308S |
probably damaging |
Het |
| Bub1 |
A |
G |
2: 127,663,735 (GRCm39) |
V222A |
probably benign |
Het |
| Ccdc91 |
G |
T |
6: 147,409,305 (GRCm39) |
D4Y |
probably damaging |
Het |
| Defb21 |
A |
G |
2: 152,416,665 (GRCm39) |
D47G |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,984,460 (GRCm39) |
C1607F |
probably benign |
Het |
| Insc |
T |
C |
7: 114,441,389 (GRCm39) |
L401P |
probably damaging |
Het |
| Kif18a |
A |
T |
2: 109,123,365 (GRCm39) |
N213I |
probably damaging |
Het |
| Mapre1 |
A |
G |
2: 153,588,234 (GRCm39) |
D19G |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,812,434 (GRCm39) |
I32N |
probably damaging |
Het |
| Mroh9 |
T |
A |
1: 162,888,191 (GRCm39) |
T295S |
probably damaging |
Het |
| Pum3 |
T |
A |
19: 27,399,758 (GRCm39) |
Y225F |
probably damaging |
Het |
| Tas2r131 |
G |
A |
6: 132,934,554 (GRCm39) |
T85I |
possibly damaging |
Het |
| Tbcd |
T |
G |
11: 121,507,758 (GRCm39) |
I1193S |
probably benign |
Het |
| Tgoln1 |
C |
T |
6: 72,593,235 (GRCm39) |
A82T |
probably benign |
Het |
|
| Other mutations in Hycc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Hycc2
|
APN |
1 |
58,579,412 (GRCm39) |
splice site |
probably benign |
|
|
IGL00468:Hycc2
|
APN |
1 |
58,569,391 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL00701:Hycc2
|
APN |
1 |
58,574,641 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02023:Hycc2
|
APN |
1 |
58,569,274 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02501:Hycc2
|
APN |
1 |
58,579,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02657:Hycc2
|
APN |
1 |
58,574,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02970:Hycc2
|
APN |
1 |
58,578,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03221:Hycc2
|
APN |
1 |
58,579,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03240:Hycc2
|
APN |
1 |
58,569,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4812001:Hycc2
|
UTSW |
1 |
58,587,862 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0455:Hycc2
|
UTSW |
1 |
58,573,638 (GRCm39) |
splice site |
probably benign |
|
|
R1479:Hycc2
|
UTSW |
1 |
58,591,427 (GRCm39) |
nonsense |
probably null |
|
|
R1529:Hycc2
|
UTSW |
1 |
58,578,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4275:Hycc2
|
UTSW |
1 |
58,569,092 (GRCm39) |
missense |
probably benign |
|
|
R5164:Hycc2
|
UTSW |
1 |
58,574,597 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6332:Hycc2
|
UTSW |
1 |
58,569,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6352:Hycc2
|
UTSW |
1 |
58,596,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6549:Hycc2
|
UTSW |
1 |
58,578,759 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7034:Hycc2
|
UTSW |
1 |
58,574,696 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7036:Hycc2
|
UTSW |
1 |
58,574,696 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7100:Hycc2
|
UTSW |
1 |
58,573,653 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7237:Hycc2
|
UTSW |
1 |
58,569,107 (GRCm39) |
nonsense |
probably null |
|
|
R7378:Hycc2
|
UTSW |
1 |
58,569,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7403:Hycc2
|
UTSW |
1 |
58,587,861 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8015:Hycc2
|
UTSW |
1 |
58,574,641 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8249:Hycc2
|
UTSW |
1 |
58,573,796 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8544:Hycc2
|
UTSW |
1 |
58,568,981 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8726:Hycc2
|
UTSW |
1 |
58,585,285 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8829:Hycc2
|
UTSW |
1 |
58,587,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8832:Hycc2
|
UTSW |
1 |
58,587,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8847:Hycc2
|
UTSW |
1 |
58,595,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9046:Hycc2
|
UTSW |
1 |
58,568,945 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9177:Hycc2
|
UTSW |
1 |
58,591,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9268:Hycc2
|
UTSW |
1 |
58,591,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9472:Hycc2
|
UTSW |
1 |
58,574,641 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Posted On |
2012-12-06 |
Incidental Mutation