Incidental Mutation 'IGL02023:Hycc2'
ID |
184025 |
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 # |
IGL02023
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
58561965-58625482 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 58569274 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 435
(A435V)
|
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: A379V
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000038718 Gene: ENSMUSG00000038174 AA Change: A379V
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
20 |
330 |
1.7e-137 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097724
AA Change: A435V
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000095331 Gene: ENSMUSG00000038174 AA Change: A435V
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: A379V
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000123728 Gene: ENSMUSG00000038174 AA Change: A379V
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,953,942 (GRCm39) |
K833E |
probably benign |
Het |
Adam29 |
T |
C |
8: 56,325,519 (GRCm39) |
I312V |
probably benign |
Het |
Adcy8 |
T |
A |
15: 64,694,069 (GRCm39) |
I403F |
probably damaging |
Het |
Ahcyl1 |
A |
T |
3: 107,575,010 (GRCm39) |
N444K |
probably damaging |
Het |
Ang4 |
T |
C |
14: 52,001,511 (GRCm39) |
|
probably benign |
Het |
Atf6b |
T |
C |
17: 34,870,841 (GRCm39) |
V401A |
possibly damaging |
Het |
Atp7a |
A |
T |
X: 105,138,588 (GRCm39) |
I604F |
probably damaging |
Het |
Cd151 |
T |
C |
7: 141,050,370 (GRCm39) |
Y202H |
probably damaging |
Het |
Cd99l2 |
A |
T |
X: 70,493,552 (GRCm39) |
N64K |
possibly damaging |
Het |
Cog7 |
C |
T |
7: 121,543,000 (GRCm39) |
|
probably null |
Het |
Decr2 |
A |
T |
17: 26,306,354 (GRCm39) |
M94K |
probably benign |
Het |
Dock11 |
A |
T |
X: 35,232,422 (GRCm39) |
H188L |
probably benign |
Het |
Dscam |
T |
C |
16: 96,602,397 (GRCm39) |
S682G |
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,612,258 (GRCm39) |
|
probably benign |
Het |
Gja3 |
G |
T |
14: 57,273,136 (GRCm39) |
P412Q |
probably damaging |
Het |
Glrb |
T |
C |
3: 80,758,262 (GRCm39) |
N333D |
probably benign |
Het |
Gpr65 |
T |
A |
12: 98,242,127 (GRCm39) |
V260D |
probably benign |
Het |
Hormad1 |
A |
G |
3: 95,485,604 (GRCm39) |
E264G |
possibly damaging |
Het |
Hsph1 |
T |
C |
5: 149,557,324 (GRCm39) |
R46G |
probably damaging |
Het |
Iars1 |
A |
G |
13: 49,841,725 (GRCm39) |
Y71C |
probably damaging |
Het |
Lsg1 |
T |
C |
16: 30,404,494 (GRCm39) |
H35R |
probably damaging |
Het |
Mfge8 |
C |
T |
7: 78,794,985 (GRCm39) |
|
probably benign |
Het |
Mgat4c |
T |
A |
10: 102,214,045 (GRCm39) |
Y9* |
probably null |
Het |
Mpdz |
A |
T |
4: 81,247,766 (GRCm39) |
I1074N |
probably damaging |
Het |
Muc19 |
T |
C |
15: 91,772,453 (GRCm39) |
|
noncoding transcript |
Het |
Nbea |
A |
T |
3: 55,588,437 (GRCm39) |
M2434K |
probably damaging |
Het |
Ncoa2 |
A |
G |
1: 13,245,078 (GRCm39) |
L540P |
probably damaging |
Het |
Nhsl2 |
A |
G |
X: 101,121,858 (GRCm39) |
R554G |
probably damaging |
Het |
Npdc1 |
T |
A |
2: 25,298,032 (GRCm39) |
|
probably benign |
Het |
Or2aj6 |
A |
T |
16: 19,443,158 (GRCm39) |
S231T |
probably benign |
Het |
Osbpl10 |
T |
A |
9: 115,055,790 (GRCm39) |
V654D |
probably damaging |
Het |
Plxna1 |
C |
A |
6: 89,334,314 (GRCm39) |
G105V |
possibly damaging |
Het |
Pnma8b |
T |
C |
7: 16,679,616 (GRCm39) |
V200A |
probably damaging |
Het |
Ppard |
A |
G |
17: 28,517,871 (GRCm39) |
H313R |
probably benign |
Het |
Rasgrp4 |
T |
C |
7: 28,838,335 (GRCm39) |
L103P |
probably damaging |
Het |
Rigi |
A |
G |
4: 40,216,487 (GRCm39) |
Y504H |
possibly damaging |
Het |
Ripk4 |
A |
T |
16: 97,556,431 (GRCm39) |
L104Q |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,423,704 (GRCm39) |
V2253A |
probably benign |
Het |
Setdb2 |
A |
G |
14: 59,668,607 (GRCm39) |
S43P |
probably damaging |
Het |
Stab2 |
C |
A |
10: 86,707,695 (GRCm39) |
G1742V |
possibly damaging |
Het |
Timm23 |
A |
G |
14: 31,915,804 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,615,999 (GRCm39) |
N14902S |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,465,711 (GRCm39) |
T2760A |
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,816,388 (GRCm39) |
N398D |
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 |
|
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 |
IGL00795:Hycc2
|
APN |
1 |
58,591,338 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-05-07 |