Incidental Mutation 'R6579:Hycc1'
| ID |
523914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hycc1
|
| Ensembl Gene |
ENSMUSG00000028995 |
| Gene Name |
hyccin PI4KA lipid kinase complex subunit 1 |
| Synonyms |
Fam126a, hyccin |
| MMRRC Submission |
044703-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.743)
|
| Stock # |
R6579 (G1)
|
| Quality Score |
169.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24120274-24235688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24171381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 347
(V347D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110761
(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 |
possibly damaging
Transcript: ENSMUST00000115109
AA Change: V347D
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110761
Gene: ENSMUSG00000028995
AA Change: V347D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
20 |
330 |
2.2e-141 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197617
AA Change: V265D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000143784
Gene: ENSMUSG00000028995
AA Change: V265D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
1 |
248 |
1.7e-100 |
PFAM |
|
| Meta Mutation Damage Score |
0.0684 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| 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 |
|---|
| 1700017B05Rik |
A |
T |
9: 57,161,507 (GRCm39) |
V80D |
possibly damaging |
Het |
| 6330409D20Rik |
T |
C |
2: 32,630,663 (GRCm39) |
|
probably benign |
Het |
| Adam15 |
C |
T |
3: 89,252,936 (GRCm39) |
V261M |
probably damaging |
Het |
| Adam29 |
G |
T |
8: 56,325,779 (GRCm39) |
T225K |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,223,011 (GRCm39) |
T654A |
probably damaging |
Het |
| AU021092 |
T |
A |
16: 5,040,020 (GRCm39) |
I35F |
probably damaging |
Het |
| Cdk20 |
G |
T |
13: 64,584,348 (GRCm39) |
Q114H |
probably benign |
Het |
| Col22a1 |
A |
C |
15: 71,753,502 (GRCm39) |
S133A |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,727,516 (GRCm39) |
F271Y |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,412,120 (GRCm39) |
V1332E |
probably benign |
Het |
| Dhrs7l |
A |
T |
12: 72,668,658 (GRCm39) |
D117E |
probably benign |
Het |
| Dnai7 |
A |
T |
6: 145,124,744 (GRCm39) |
M527K |
probably benign |
Het |
| Dnajc5 |
A |
G |
2: 181,189,209 (GRCm39) |
N62D |
possibly damaging |
Het |
| Gm3045 |
C |
T |
13: 56,578,103 (GRCm39) |
S180L |
probably damaging |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,421 (GRCm39) |
Y93* |
probably null |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
| Or5an1c |
C |
T |
19: 12,218,726 (GRCm39) |
V100I |
probably benign |
Het |
| Peli1 |
A |
T |
11: 21,097,059 (GRCm39) |
T150S |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,047 (GRCm39) |
T3169A |
probably benign |
Het |
| Polr2m |
T |
A |
9: 71,393,002 (GRCm39) |
E26V |
probably damaging |
Het |
| Rhbdf2 |
A |
G |
11: 116,495,289 (GRCm39) |
V238A |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,496,166 (GRCm39) |
P820H |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,106 (GRCm39) |
T1698A |
probably damaging |
Het |
| Scgn |
C |
T |
13: 24,143,717 (GRCm39) |
A216T |
probably damaging |
Het |
| Serpina11 |
T |
A |
12: 103,951,007 (GRCm39) |
D238V |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,378,846 (GRCm39) |
E887V |
possibly damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Trak1 |
C |
A |
9: 121,272,704 (GRCm39) |
N197K |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Uchl5 |
T |
A |
1: 143,674,130 (GRCm39) |
Y211N |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,039,197 (GRCm39) |
S1226T |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,623,750 (GRCm39) |
T163A |
probably benign |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,206 (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 |
|
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 |
|
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'- AAACTGCACTCTGCCAGCTG -3'
(R):5'- TGCGTGTTTGCCTTAAGTTATACC -3'
Sequencing Primer
(F):5'- GGACATTCCATCCTCCATCATTTTTC -3'
(R):5'- ACCATTCAATCATCCAGTTTTGTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation