Incidental Mutation 'R5220:Hycc1'
ID |
402261 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hycc1
|
Ensembl Gene |
ENSMUSG00000028995 |
Gene Name |
hyccin PI4KA lipid kinase complex subunit 1 |
Synonyms |
Fam126a, hyccin |
MMRRC Submission |
042793-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.743)
|
Stock # |
R5220 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
24120274-24235688 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 24170220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 376
(S376R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030849
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030849]
[ENSMUST00000101513]
[ENSMUST00000115109]
[ENSMUST00000197617]
|
AlphaFold |
Q6P9N1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030849
AA Change: S376R
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000030849 Gene: ENSMUSG00000028995 AA Change: S376R
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 |
probably benign
Transcript: ENSMUST00000197617
|
SMART Domains |
Protein: ENSMUSP00000143784 Gene: ENSMUSG00000028995
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
1 |
248 |
1.7e-100 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,738,045 (GRCm39) |
E250G |
probably damaging |
Het |
Adgra1 |
A |
G |
7: 139,455,512 (GRCm39) |
N380S |
probably benign |
Het |
Ap3d1 |
G |
A |
10: 80,563,001 (GRCm39) |
P160L |
probably damaging |
Het |
Atg9a |
C |
T |
1: 75,162,372 (GRCm39) |
V505M |
probably damaging |
Het |
Chsy3 |
A |
T |
18: 59,543,102 (GRCm39) |
I747F |
probably damaging |
Het |
Clec2g |
A |
G |
6: 128,958,269 (GRCm39) |
S100G |
probably benign |
Het |
Cmya5 |
G |
T |
13: 93,228,804 (GRCm39) |
P2095T |
probably damaging |
Het |
Dcaf10 |
T |
C |
4: 45,373,909 (GRCm39) |
W445R |
possibly damaging |
Het |
Espl1 |
T |
A |
15: 102,207,012 (GRCm39) |
L159M |
probably benign |
Het |
Fbxw8 |
T |
C |
5: 118,233,776 (GRCm39) |
D285G |
possibly damaging |
Het |
Fras1 |
C |
T |
5: 96,916,222 (GRCm39) |
R3419W |
probably damaging |
Het |
Galc |
T |
A |
12: 98,197,672 (GRCm39) |
|
probably null |
Het |
Ghdc |
T |
C |
11: 100,660,543 (GRCm39) |
E110G |
probably damaging |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
H2-T24 |
T |
C |
17: 36,325,562 (GRCm39) |
T309A |
probably benign |
Het |
Helb |
A |
C |
10: 119,937,391 (GRCm39) |
F618V |
probably damaging |
Het |
Ifi211 |
A |
G |
1: 173,735,262 (GRCm39) |
F56L |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,950,160 (GRCm39) |
F1988L |
probably damaging |
Het |
Mapk13 |
G |
A |
17: 28,997,465 (GRCm39) |
S361N |
probably benign |
Het |
Mapk3 |
A |
G |
7: 126,363,408 (GRCm39) |
I146V |
probably benign |
Het |
Megf6 |
G |
A |
4: 154,338,295 (GRCm39) |
|
probably null |
Het |
Mug1 |
G |
T |
6: 121,838,092 (GRCm39) |
V441F |
probably benign |
Het |
Mymk |
A |
G |
2: 26,952,226 (GRCm39) |
S173P |
probably benign |
Het |
Nox4 |
A |
G |
7: 87,023,616 (GRCm39) |
T501A |
possibly damaging |
Het |
Or13c7 |
C |
A |
4: 43,854,624 (GRCm39) |
S105Y |
possibly damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or52n2 |
T |
C |
7: 104,542,104 (GRCm39) |
T244A |
possibly damaging |
Het |
Prkcb |
C |
A |
7: 121,888,678 (GRCm39) |
H37Q |
probably damaging |
Het |
Rabggtb |
A |
G |
3: 153,615,024 (GRCm39) |
F189L |
probably damaging |
Het |
Setd1b |
T |
C |
5: 123,281,471 (GRCm39) |
I75T |
unknown |
Het |
Slc10a5 |
T |
A |
3: 10,400,148 (GRCm39) |
R171* |
probably null |
Het |
Slc12a4 |
A |
G |
8: 106,680,484 (GRCm39) |
F211L |
probably damaging |
Het |
Slc1a5 |
T |
A |
7: 16,527,759 (GRCm39) |
W352R |
probably damaging |
Het |
Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
St8sia4 |
A |
G |
1: 95,555,460 (GRCm39) |
M190T |
probably damaging |
Het |
Tmeff2 |
A |
G |
1: 51,018,476 (GRCm39) |
M153V |
probably benign |
Het |
Trappc12 |
T |
C |
12: 28,796,696 (GRCm39) |
T279A |
probably damaging |
Het |
Ubn1 |
G |
T |
16: 4,895,818 (GRCm39) |
A955S |
probably benign |
Het |
Usp24 |
T |
A |
4: 106,239,500 (GRCm39) |
H1147Q |
possibly damaging |
Het |
Vrk1 |
T |
A |
12: 106,039,865 (GRCm39) |
|
probably null |
Het |
Zdhhc25 |
T |
A |
15: 88,485,365 (GRCm39) |
Y233* |
probably null |
Het |
Zfp109 |
A |
G |
7: 23,928,179 (GRCm39) |
V418A |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGCTGGAGGTTAAGGTCAG -3'
(R):5'- AGTGGGGTAGTTTACAGCATGC -3'
Sequencing Primer
(F):5'- AGGTTAAGGTCAGTCTCTTCAGAG -3'
(R):5'- CAGCATGCTTGTGGTTTAATATATTC -3'
|
Posted On |
2016-07-22 |