Incidental Mutation 'R5453:Hycc1'
ID |
432618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hycc1
|
Ensembl Gene |
ENSMUSG00000028995 |
Gene Name |
hyccin PI4KA lipid kinase complex subunit 1 |
Synonyms |
Fam126a, hyccin |
MMRRC Submission |
043017-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.743)
|
Stock # |
R5453 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
24120274-24235688 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 24192877 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 null
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 null
Transcript: ENSMUST00000101513
|
SMART Domains |
Protein: ENSMUSP00000099050 Gene: ENSMUSG00000028995
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
20 |
330 |
8e-141 |
PFAM |
|
Predicted Effect |
probably null
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 null
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
Adamts20 |
T |
C |
15: 94,223,969 (GRCm39) |
E1253G |
possibly damaging |
Het |
Adgrd1 |
T |
C |
5: 129,256,647 (GRCm39) |
F640S |
probably damaging |
Het |
Anxa1 |
C |
T |
19: 20,357,703 (GRCm39) |
|
probably null |
Het |
Babam2 |
A |
G |
5: 32,164,590 (GRCm39) |
E288G |
probably damaging |
Het |
Cd163 |
C |
T |
6: 124,289,500 (GRCm39) |
A406V |
probably damaging |
Het |
Cdh13 |
A |
T |
8: 119,925,706 (GRCm39) |
D358V |
probably damaging |
Het |
Cdk10 |
A |
G |
8: 123,953,131 (GRCm39) |
I45V |
probably benign |
Het |
Crybg2 |
A |
T |
4: 133,806,147 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,359,330 (GRCm39) |
D3555G |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,599,099 (GRCm39) |
D1818G |
probably benign |
Het |
Emsy |
T |
C |
7: 98,250,013 (GRCm39) |
K758R |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,908,160 (GRCm39) |
V2614A |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,003,972 (GRCm39) |
I190T |
possibly damaging |
Het |
Hoxb3 |
T |
C |
11: 96,235,480 (GRCm39) |
S136P |
probably damaging |
Het |
Hras |
A |
C |
7: 140,772,768 (GRCm39) |
V29G |
probably damaging |
Het |
Igll1 |
A |
G |
16: 16,681,558 (GRCm39) |
|
probably null |
Het |
Insr |
G |
A |
8: 3,205,694 (GRCm39) |
T1365I |
probably benign |
Het |
Kitl |
T |
A |
10: 99,923,247 (GRCm39) |
W187R |
probably damaging |
Het |
Klb |
T |
A |
5: 65,540,728 (GRCm39) |
F940L |
probably benign |
Het |
Lrp1b |
C |
T |
2: 41,172,249 (GRCm39) |
R725K |
probably damaging |
Het |
Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
Mrps35 |
A |
G |
6: 146,972,115 (GRCm39) |
S253G |
probably benign |
Het |
Mycbp2 |
C |
T |
14: 103,438,837 (GRCm39) |
E2015K |
probably damaging |
Het |
Nyap2 |
A |
C |
1: 81,169,857 (GRCm39) |
I205L |
probably benign |
Het |
Or12d13 |
T |
C |
17: 37,647,953 (GRCm39) |
M57V |
possibly damaging |
Het |
Or6k14 |
A |
G |
1: 173,927,033 (GRCm39) |
K3R |
probably benign |
Het |
Rab11fip3 |
C |
T |
17: 26,211,555 (GRCm39) |
|
probably null |
Het |
Rbm47 |
A |
G |
5: 66,184,525 (GRCm39) |
V26A |
probably benign |
Het |
Ripk2 |
A |
T |
4: 16,151,989 (GRCm39) |
I190N |
probably damaging |
Het |
Spmip4 |
A |
G |
6: 50,572,776 (GRCm39) |
|
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttc17 |
A |
T |
2: 94,133,905 (GRCm39) |
N1150K |
probably damaging |
Het |
Zfp108 |
G |
T |
7: 23,960,689 (GRCm39) |
G427W |
probably damaging |
Het |
Zfp84 |
A |
G |
7: 29,475,722 (GRCm39) |
E138G |
possibly damaging |
Het |
|
Other mutations in Hycc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Hycc1
|
APN |
5 |
24,190,843 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGCTTAAAGATGCACTTAAACAG -3'
(R):5'- CAGTTACTAGAGCCCGTGTG -3'
Sequencing Primer
(F):5'- TCAGGGCTACACTGTGAGAC -3'
(R):5'- GTTACTAGAGCCCGTGTGTCACC -3'
|
Posted On |
2016-10-06 |