Incidental Mutation 'IGL00468:Hycc2'
ID |
7466 |
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 # |
IGL00468
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
58561965-58625482 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 58569391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 396
(E396A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038372]
[ENSMUST00000097724]
[ENSMUST00000161600]
[ENSMUST00000187717]
|
AlphaFold |
Q8C729 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038372
AA Change: E340A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000038718 Gene: ENSMUSG00000038174 AA Change: E340A
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
20 |
330 |
1.7e-137 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097724
AA Change: E396A
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000095331 Gene: ENSMUSG00000038174 AA Change: E396A
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: ENSMUST00000161600
AA Change: E340A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000123728 Gene: ENSMUSG00000038174 AA Change: E340A
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
A |
G |
5: 3,630,453 (GRCm39) |
E123G |
probably damaging |
Het |
Alpk2 |
A |
T |
18: 65,438,894 (GRCm39) |
L1300Q |
probably benign |
Het |
Armc9 |
T |
C |
1: 86,126,061 (GRCm39) |
Y51H |
probably damaging |
Het |
Bcl11b |
A |
G |
12: 107,932,074 (GRCm39) |
V166A |
possibly damaging |
Het |
Cfap70 |
T |
A |
14: 20,462,530 (GRCm39) |
D565V |
possibly damaging |
Het |
Cops5 |
C |
A |
1: 10,104,295 (GRCm39) |
G132W |
probably damaging |
Het |
Dync1i1 |
G |
A |
6: 5,972,135 (GRCm39) |
V468M |
probably damaging |
Het |
Fasn |
A |
C |
11: 120,711,365 (GRCm39) |
D216E |
probably damaging |
Het |
Fktn |
T |
A |
4: 53,734,866 (GRCm39) |
I168K |
probably benign |
Het |
Gal3st2c |
A |
G |
1: 93,936,771 (GRCm39) |
R239G |
probably benign |
Het |
Glt6d1 |
A |
C |
2: 25,701,041 (GRCm39) |
L36R |
probably damaging |
Het |
Herc3 |
A |
G |
6: 58,895,751 (GRCm39) |
I1000V |
probably benign |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Lhcgr |
C |
T |
17: 89,049,874 (GRCm39) |
V551I |
probably benign |
Het |
Lmna |
G |
T |
3: 88,391,991 (GRCm39) |
S437R |
probably benign |
Het |
Lrrc49 |
A |
G |
9: 60,595,151 (GRCm39) |
|
probably benign |
Het |
Lrriq3 |
A |
G |
3: 154,806,816 (GRCm39) |
D155G |
probably damaging |
Het |
Mcf2 |
G |
A |
X: 59,179,095 (GRCm39) |
T104I |
probably damaging |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mipep |
A |
G |
14: 61,112,709 (GRCm39) |
E664G |
probably benign |
Het |
Mybpc1 |
A |
T |
10: 88,385,124 (GRCm39) |
V519D |
probably damaging |
Het |
Nfil3 |
C |
A |
13: 53,121,610 (GRCm39) |
L431F |
probably damaging |
Het |
Sctr |
T |
A |
1: 119,972,450 (GRCm39) |
V197E |
probably damaging |
Het |
Sesn2 |
T |
C |
4: 132,227,124 (GRCm39) |
T103A |
probably benign |
Het |
Sptbn4 |
A |
T |
7: 27,117,390 (GRCm39) |
V453D |
probably damaging |
Het |
Supt5 |
A |
T |
7: 28,014,807 (GRCm39) |
H1023Q |
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,947,640 (GRCm39) |
|
probably benign |
Het |
Tekt2 |
T |
A |
4: 126,216,982 (GRCm39) |
E262D |
possibly damaging |
Het |
Tenm4 |
T |
A |
7: 96,523,679 (GRCm39) |
H1732Q |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,251,469 (GRCm39) |
D840G |
possibly damaging |
Het |
Tox4 |
A |
G |
14: 52,523,202 (GRCm39) |
D54G |
probably damaging |
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 |
|
IGL00701:Hycc2
|
APN |
1 |
58,574,641 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL00795:Hycc2
|
APN |
1 |
58,591,338 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2012-04-20 |