Incidental Mutation 'IGL00501:Hycc1'
ID |
6474 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hycc1
|
Ensembl Gene |
ENSMUSG00000028995 |
Gene Name |
hyccin PI4KA lipid kinase complex subunit 1 |
Synonyms |
Fam126a, hyccin |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.743)
|
Stock # |
IGL00501
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
24120274-24235688 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 24190843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143784
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030849]
[ENSMUST00000101513]
[ENSMUST00000115109]
[ENSMUST00000197617]
|
AlphaFold |
Q6P9N1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030849
|
SMART Domains |
Protein: ENSMUSP00000030849 Gene: ENSMUSG00000028995
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
22 |
330 |
2.7e-133 |
PFAM |
low complexity region
|
353 |
373 |
N/A |
INTRINSIC |
low complexity region
|
415 |
434 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101513
|
SMART Domains |
Protein: ENSMUSP00000099050 Gene: ENSMUSG00000028995
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
20 |
330 |
8e-141 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115109
|
SMART Domains |
Protein: ENSMUSP00000110761 Gene: ENSMUSG00000028995
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
20 |
330 |
2.2e-141 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147179
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197617
|
SMART Domains |
Protein: ENSMUSP00000143784 Gene: ENSMUSG00000028995
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
1 |
248 |
1.7e-100 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198867
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
T |
C |
9: 53,493,895 (GRCm39) |
I409V |
probably damaging |
Het |
Adck1 |
A |
G |
12: 88,335,192 (GRCm39) |
N26S |
probably benign |
Het |
Adgrf5 |
G |
A |
17: 43,760,806 (GRCm39) |
A834T |
possibly damaging |
Het |
Agpat5 |
T |
C |
8: 18,926,148 (GRCm39) |
|
probably null |
Het |
Ano8 |
A |
C |
8: 71,931,793 (GRCm39) |
|
probably null |
Het |
Baz2a |
T |
A |
10: 127,950,494 (GRCm39) |
M476K |
probably benign |
Het |
Cgas |
G |
A |
9: 78,342,869 (GRCm39) |
A311V |
probably damaging |
Het |
Col16a1 |
A |
G |
4: 129,988,345 (GRCm39) |
|
probably null |
Het |
Cyp3a13 |
A |
T |
5: 137,910,195 (GRCm39) |
I113N |
probably benign |
Het |
Dstn |
A |
G |
2: 143,784,094 (GRCm39) |
T146A |
probably benign |
Het |
Eif2ak1 |
A |
T |
5: 143,826,288 (GRCm39) |
M434L |
probably damaging |
Het |
Gba2 |
G |
A |
4: 43,568,477 (GRCm39) |
A663V |
probably damaging |
Het |
Gja10 |
T |
C |
4: 32,601,230 (GRCm39) |
T385A |
possibly damaging |
Het |
Gm42878 |
A |
C |
5: 121,671,406 (GRCm39) |
I209R |
probably damaging |
Het |
Grk1 |
T |
A |
8: 13,457,835 (GRCm39) |
V245E |
probably damaging |
Het |
H2az1 |
T |
C |
3: 137,571,357 (GRCm39) |
V53A |
probably damaging |
Het |
Kctd16 |
G |
A |
18: 40,390,440 (GRCm39) |
|
probably benign |
Het |
Klhdc8b |
C |
T |
9: 108,326,105 (GRCm39) |
R263H |
probably benign |
Het |
Lcn8 |
T |
C |
2: 25,545,119 (GRCm39) |
|
probably benign |
Het |
Ldlr |
T |
C |
9: 21,646,657 (GRCm39) |
|
probably null |
Het |
Lrrc40 |
T |
C |
3: 157,766,919 (GRCm39) |
F458S |
probably damaging |
Het |
Lypla1 |
T |
A |
1: 4,898,810 (GRCm39) |
H35Q |
probably damaging |
Het |
Mink1 |
C |
T |
11: 70,494,638 (GRCm39) |
T273I |
probably damaging |
Het |
Neb |
A |
G |
2: 52,185,356 (GRCm39) |
F959L |
probably benign |
Het |
Nedd4l |
A |
T |
18: 65,341,163 (GRCm39) |
D704V |
probably damaging |
Het |
Peak1 |
C |
T |
9: 56,134,610 (GRCm39) |
E1274K |
probably damaging |
Het |
Prkcz |
G |
T |
4: 155,378,858 (GRCm39) |
|
probably benign |
Het |
Rabgap1 |
T |
A |
2: 37,359,558 (GRCm39) |
N40K |
probably damaging |
Het |
Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,110,806 (GRCm39) |
T126A |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,814,046 (GRCm39) |
V1830A |
probably benign |
Het |
Tmem104 |
T |
C |
11: 115,134,763 (GRCm39) |
I433T |
probably damaging |
Het |
Trim10 |
G |
A |
17: 37,187,939 (GRCm39) |
R385K |
probably benign |
Het |
Zbtb44 |
A |
G |
9: 30,965,606 (GRCm39) |
I339V |
possibly damaging |
Het |
|
Other mutations in Hycc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03365:Hycc1
|
APN |
5 |
24,188,158 (GRCm39) |
missense |
probably benign |
0.30 |
Dropsy
|
UTSW |
5 |
24,204,956 (GRCm39) |
missense |
probably damaging |
0.99 |
R0070:Hycc1
|
UTSW |
5 |
24,169,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R0070:Hycc1
|
UTSW |
5 |
24,169,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R0616:Hycc1
|
UTSW |
5 |
24,191,770 (GRCm39) |
missense |
probably damaging |
0.99 |
R0645:Hycc1
|
UTSW |
5 |
24,184,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R1364:Hycc1
|
UTSW |
5 |
24,170,351 (GRCm39) |
missense |
probably benign |
|
R1462:Hycc1
|
UTSW |
5 |
24,190,730 (GRCm39) |
splice site |
probably benign |
|
R1544:Hycc1
|
UTSW |
5 |
24,170,139 (GRCm39) |
missense |
probably benign |
0.00 |
R1670:Hycc1
|
UTSW |
5 |
24,204,989 (GRCm39) |
start codon destroyed |
possibly damaging |
0.95 |
R1796:Hycc1
|
UTSW |
5 |
24,191,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R4433:Hycc1
|
UTSW |
5 |
24,184,579 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4523:Hycc1
|
UTSW |
5 |
24,170,120 (GRCm39) |
missense |
probably benign |
0.01 |
R5220:Hycc1
|
UTSW |
5 |
24,170,220 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5453:Hycc1
|
UTSW |
5 |
24,192,877 (GRCm39) |
splice site |
probably null |
|
R5694:Hycc1
|
UTSW |
5 |
24,196,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R5703:Hycc1
|
UTSW |
5 |
24,185,577 (GRCm39) |
splice site |
probably null |
|
R6144:Hycc1
|
UTSW |
5 |
24,171,367 (GRCm39) |
missense |
possibly damaging |
0.45 |
R6547:Hycc1
|
UTSW |
5 |
24,170,098 (GRCm39) |
missense |
probably benign |
0.04 |
R6579:Hycc1
|
UTSW |
5 |
24,171,381 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6906:Hycc1
|
UTSW |
5 |
24,204,956 (GRCm39) |
missense |
probably damaging |
0.99 |
R6924:Hycc1
|
UTSW |
5 |
24,191,133 (GRCm39) |
splice site |
probably null |
|
R6959:Hycc1
|
UTSW |
5 |
24,196,754 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7068:Hycc1
|
UTSW |
5 |
24,169,793 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7699:Hycc1
|
UTSW |
5 |
24,120,494 (GRCm39) |
missense |
probably damaging |
0.98 |
R8748:Hycc1
|
UTSW |
5 |
24,170,320 (GRCm39) |
missense |
probably benign |
0.17 |
R8785:Hycc1
|
UTSW |
5 |
24,169,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R8958:Hycc1
|
UTSW |
5 |
24,169,934 (GRCm39) |
missense |
probably benign |
0.01 |
R9053:Hycc1
|
UTSW |
5 |
24,184,579 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9623:Hycc1
|
UTSW |
5 |
24,170,255 (GRCm39) |
missense |
probably benign |
0.02 |
R9751:Hycc1
|
UTSW |
5 |
24,196,748 (GRCm39) |
missense |
probably benign |
0.01 |
R9760:Hycc1
|
UTSW |
5 |
24,184,572 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Posted On |
2012-04-20 |