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 |