Incidental Mutation 'IGL03221:Hycc2'
ID |
413649 |
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 # |
IGL03221
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
58561965-58625482 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 58579345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 231
(V231L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038372]
[ENSMUST00000097724]
[ENSMUST00000161600]
[ENSMUST00000187717]
|
AlphaFold |
Q8C729 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038372
AA Change: V231L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000038718 Gene: ENSMUSG00000038174 AA Change: V231L
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
20 |
330 |
1.7e-137 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097724
AA Change: V231L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000095331 Gene: ENSMUSG00000038174 AA Change: V231L
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: V231L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000123728 Gene: ENSMUSG00000038174 AA Change: V231L
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2b2 |
C |
T |
6: 113,737,820 (GRCm39) |
|
probably benign |
Het |
BC051665 |
T |
A |
13: 60,932,242 (GRCm39) |
K116* |
probably null |
Het |
Birc6 |
A |
T |
17: 74,934,002 (GRCm39) |
T2538S |
probably benign |
Het |
Btn2a2 |
A |
G |
13: 23,662,619 (GRCm39) |
S435P |
probably damaging |
Het |
Efhb |
A |
G |
17: 53,706,014 (GRCm39) |
L841P |
probably damaging |
Het |
Etv4 |
C |
T |
11: 101,664,988 (GRCm39) |
R155K |
probably damaging |
Het |
Fnbp4 |
T |
A |
2: 90,608,062 (GRCm39) |
M928K |
possibly damaging |
Het |
Grin2c |
A |
G |
11: 115,144,870 (GRCm39) |
|
probably benign |
Het |
Grip1 |
A |
T |
10: 119,822,299 (GRCm39) |
M342L |
probably benign |
Het |
H60c |
T |
A |
10: 3,209,799 (GRCm39) |
K163* |
probably null |
Het |
Lilrb4b |
A |
G |
10: 51,357,524 (GRCm39) |
|
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Mast4 |
A |
G |
13: 102,890,764 (GRCm39) |
V838A |
possibly damaging |
Het |
Mypn |
C |
A |
10: 62,966,902 (GRCm39) |
D925Y |
probably damaging |
Het |
Nol6 |
T |
C |
4: 41,124,166 (GRCm39) |
D27G |
probably benign |
Het |
Or4c105 |
T |
C |
2: 88,647,781 (GRCm39) |
S89P |
possibly damaging |
Het |
Or5b97 |
G |
T |
19: 12,878,905 (GRCm39) |
P80T |
probably damaging |
Het |
Or8b51 |
A |
T |
9: 38,569,661 (GRCm39) |
V9E |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,718,133 (GRCm39) |
|
probably null |
Het |
Pik3c3 |
G |
T |
18: 30,435,984 (GRCm39) |
M394I |
probably benign |
Het |
Rfx7 |
C |
T |
9: 72,526,088 (GRCm39) |
R1093C |
probably damaging |
Het |
Scin |
A |
G |
12: 40,126,973 (GRCm39) |
V458A |
probably benign |
Het |
Slc34a1 |
T |
C |
13: 55,548,591 (GRCm39) |
V39A |
probably benign |
Het |
Slc6a4 |
A |
G |
11: 76,917,931 (GRCm39) |
M558V |
probably benign |
Het |
Smpx |
T |
C |
X: 156,503,994 (GRCm39) |
V65A |
probably damaging |
Het |
Tmem200a |
A |
T |
10: 25,869,922 (GRCm39) |
F116I |
possibly damaging |
Het |
Tnfrsf19 |
A |
T |
14: 61,262,227 (GRCm39) |
V12E |
probably benign |
Het |
Trpc1 |
C |
T |
9: 95,588,953 (GRCm39) |
R757H |
probably damaging |
Het |
Ttc38 |
T |
A |
15: 85,718,742 (GRCm39) |
S51T |
probably benign |
Het |
Wee1 |
G |
A |
7: 109,726,024 (GRCm39) |
C378Y |
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 |
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 |
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 |
2016-08-02 |