Incidental Mutation 'R5703:Hycc1'
| ID |
451787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hycc1
|
| Ensembl Gene |
ENSMUSG00000028995 |
| Gene Name |
hyccin PI4KA lipid kinase complex subunit 1 |
| Synonyms |
Fam126a, hyccin |
| MMRRC Submission |
043183-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.680)
|
| Stock # |
R5703 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24120274-24235688 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 24185577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030849]
[ENSMUST00000030849]
[ENSMUST00000101513]
[ENSMUST00000101513]
[ENSMUST00000101513]
[ENSMUST00000115109]
[ENSMUST00000115109]
[ENSMUST00000115109]
[ENSMUST00000197617]
[ENSMUST00000197617]
[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: 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: 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: 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 |
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 |
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 |
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 |
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 |
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: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
A |
1: 25,459,640 (GRCm39) |
N605I |
probably damaging |
Het |
| Btd |
C |
T |
14: 31,389,004 (GRCm39) |
R242* |
probably null |
Het |
| Cdc42bpg |
A |
G |
19: 6,372,703 (GRCm39) |
D1502G |
possibly damaging |
Het |
| Chst2 |
A |
G |
9: 95,286,985 (GRCm39) |
F454L |
probably damaging |
Het |
| Col16a1 |
G |
A |
4: 129,947,092 (GRCm39) |
A146T |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,797,183 (GRCm39) |
S399T |
probably benign |
Het |
| Dspp |
C |
T |
5: 104,324,917 (GRCm39) |
H427Y |
possibly damaging |
Het |
| Dtx4 |
A |
T |
19: 12,459,574 (GRCm39) |
M410K |
possibly damaging |
Het |
| Ecpas |
A |
T |
4: 58,877,171 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
C |
T |
10: 25,317,665 (GRCm39) |
R61W |
probably damaging |
Het |
| Gbp6 |
T |
C |
5: 105,421,147 (GRCm39) |
K553E |
probably benign |
Het |
| Git1 |
CCG |
C |
11: 77,395,494 (GRCm39) |
|
probably null |
Het |
| Gm13199 |
C |
T |
2: 5,867,259 (GRCm39) |
|
probably benign |
Het |
| Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
| Hoxa2 |
G |
T |
6: 52,140,243 (GRCm39) |
Q248K |
probably damaging |
Het |
| Krt33b |
T |
C |
11: 99,916,374 (GRCm39) |
T228A |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,444,573 (GRCm39) |
E324G |
probably damaging |
Het |
| Map3k20 |
A |
G |
2: 72,232,514 (GRCm39) |
N390S |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,565,757 (GRCm39) |
Y126H |
possibly damaging |
Het |
| Muc4 |
G |
A |
16: 32,555,059 (GRCm39) |
W15* |
probably null |
Het |
| Ndrg2 |
T |
A |
14: 52,147,579 (GRCm39) |
|
probably null |
Het |
| Ntsr1 |
T |
C |
2: 180,142,226 (GRCm39) |
S6P |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,783 (GRCm39) |
I213T |
probably benign |
Het |
| Or5p70 |
G |
A |
7: 107,994,707 (GRCm39) |
V127I |
probably benign |
Het |
| Pcdhb6 |
A |
T |
18: 37,467,753 (GRCm39) |
T225S |
probably benign |
Het |
| Rfng |
C |
A |
11: 120,672,842 (GRCm39) |
V294L |
probably benign |
Het |
| Scml4 |
C |
T |
10: 42,741,566 (GRCm39) |
|
probably benign |
Het |
| Slc5a2 |
A |
G |
7: 127,869,787 (GRCm39) |
I407V |
possibly damaging |
Het |
| Strc |
T |
C |
2: 121,201,295 (GRCm39) |
T1267A |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,341 (GRCm39) |
V566A |
probably damaging |
Het |
| Tas1r2 |
T |
C |
4: 139,394,647 (GRCm39) |
S468P |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,914,626 (GRCm39) |
T2304S |
probably benign |
Het |
| Tirap |
A |
T |
9: 35,100,054 (GRCm39) |
L210Q |
probably damaging |
Het |
| Vav3 |
A |
T |
3: 109,248,557 (GRCm39) |
Q68L |
probably benign |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,594 (GRCm39) |
S433N |
probably benign |
Het |
| Wars1 |
A |
T |
12: 108,841,047 (GRCm39) |
Y244N |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,835,372 (GRCm39) |
|
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 |
|
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 |
|
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'- ATGCTATGAATTACTTCTCAATGCA -3'
(R):5'- CTGAAATTGCCTTAGCTCTTTGA -3'
Sequencing Primer
(F):5'- AATTCTAGCTGGGCTCTG -3'
(R):5'- CTCATGTTCCTTAGAGAAGAAACG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation