Incidental Mutation 'R2332:Hps6'
ID |
246493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hps6
|
Ensembl Gene |
ENSMUSG00000074811 |
Gene Name |
HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 |
Synonyms |
BLOC-2, ruby eye, 5330434M19Rik, Hermansky-Pudlak syndrome 6, ru |
MMRRC Submission |
040322-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2332 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
45991947-45994612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45992930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 289
(V289A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096991
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099393]
|
AlphaFold |
Q8BLY7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099393
AA Change: V289A
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000096991 Gene: ENSMUSG00000074811 AA Change: V289A
Domain | Start | End | E-Value | Type |
Pfam:HPS6
|
1 |
772 |
1e-281 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181820
|
Meta Mutation Damage Score |
0.2669 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (47/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008] PHENOTYPE: Mutations in this gene result in hypopigmented hair and eyes, and increased clotting time due to a platelet dense granule defect. [provided by MGI curators]
|
Allele List at MGI |
All alleles(9) : Spontaneous(8) Chemically induced(1)
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apc |
T |
C |
18: 34,450,112 (GRCm39) |
I2302T |
possibly damaging |
Het |
Apoa4 |
G |
A |
9: 46,153,653 (GRCm39) |
V85I |
probably benign |
Het |
Banf1 |
C |
T |
19: 5,415,058 (GRCm39) |
W84* |
probably null |
Het |
Cdk13 |
A |
G |
13: 17,893,280 (GRCm39) |
L627P |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,832,527 (GRCm39) |
E1483G |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Ddx60 |
A |
G |
8: 62,490,125 (GRCm39) |
E1698G |
probably benign |
Het |
Depdc1a |
C |
A |
3: 159,229,503 (GRCm39) |
Q612K |
probably damaging |
Het |
Dnaja2 |
G |
A |
8: 86,266,765 (GRCm39) |
R321C |
probably damaging |
Het |
Fam186b |
T |
A |
15: 99,178,309 (GRCm39) |
E339V |
probably benign |
Het |
Fga |
T |
C |
3: 82,938,704 (GRCm39) |
F360L |
probably damaging |
Het |
Fut9 |
C |
T |
4: 25,619,823 (GRCm39) |
W330* |
probably null |
Het |
Ghr |
T |
C |
15: 3,349,891 (GRCm39) |
N429S |
probably benign |
Het |
Gm5444 |
A |
T |
13: 4,883,624 (GRCm39) |
|
noncoding transcript |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Hoxa5 |
T |
C |
6: 52,179,659 (GRCm39) |
I239V |
probably damaging |
Het |
Iqcb1 |
A |
G |
16: 36,663,801 (GRCm39) |
N190D |
possibly damaging |
Het |
Map3k13 |
G |
A |
16: 21,717,427 (GRCm39) |
|
probably null |
Het |
Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
Or52d13 |
A |
G |
7: 103,110,293 (GRCm39) |
Y41H |
probably damaging |
Het |
Pacsin1 |
A |
G |
17: 27,923,885 (GRCm39) |
E93G |
possibly damaging |
Het |
Pds5a |
A |
G |
5: 65,784,422 (GRCm39) |
|
probably null |
Het |
Ppp1r9b |
A |
T |
11: 94,887,435 (GRCm39) |
E482D |
probably damaging |
Het |
Rhobtb3 |
A |
G |
13: 76,058,971 (GRCm39) |
S276P |
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,866,705 (GRCm39) |
V538A |
probably benign |
Het |
Rmdn3 |
A |
T |
2: 118,984,008 (GRCm39) |
|
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
Slc4a11 |
A |
T |
2: 130,526,379 (GRCm39) |
V855D |
probably benign |
Het |
Speer4f1 |
C |
A |
5: 17,684,522 (GRCm39) |
N183K |
probably damaging |
Het |
Sstr4 |
A |
T |
2: 148,238,330 (GRCm39) |
N314Y |
probably damaging |
Het |
Synj2 |
A |
G |
17: 6,074,069 (GRCm39) |
K288E |
probably damaging |
Het |
Trhde |
T |
A |
10: 114,428,070 (GRCm39) |
N409Y |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,611,483 (GRCm39) |
W15604R |
probably damaging |
Het |
Ugdh |
C |
T |
5: 65,584,827 (GRCm39) |
V32I |
possibly damaging |
Het |
Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
Vps13d |
G |
T |
4: 144,875,256 (GRCm39) |
D1750E |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,036,189 (GRCm39) |
|
probably benign |
Het |
Wnt4 |
C |
A |
4: 137,023,831 (GRCm39) |
T266K |
probably benign |
Het |
Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
Zfp322a |
A |
T |
13: 23,541,494 (GRCm39) |
C83S |
probably damaging |
Het |
|
Other mutations in Hps6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00743:Hps6
|
APN |
19 |
45,992,099 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02826:Hps6
|
APN |
19 |
45,994,480 (GRCm39) |
makesense |
probably null |
|
stamper-coat
|
UTSW |
19 |
45,992,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R0299:Hps6
|
UTSW |
19 |
45,992,671 (GRCm39) |
missense |
probably damaging |
0.98 |
R0613:Hps6
|
UTSW |
19 |
45,992,260 (GRCm39) |
missense |
probably benign |
|
R1036:Hps6
|
UTSW |
19 |
45,992,680 (GRCm39) |
missense |
probably benign |
0.00 |
R1845:Hps6
|
UTSW |
19 |
45,993,409 (GRCm39) |
missense |
probably benign |
0.30 |
R1959:Hps6
|
UTSW |
19 |
45,992,774 (GRCm39) |
missense |
probably benign |
0.33 |
R2271:Hps6
|
UTSW |
19 |
45,994,121 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3156:Hps6
|
UTSW |
19 |
45,992,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R3937:Hps6
|
UTSW |
19 |
45,992,492 (GRCm39) |
missense |
probably damaging |
0.97 |
R7108:Hps6
|
UTSW |
19 |
45,993,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R7384:Hps6
|
UTSW |
19 |
45,992,456 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7710:Hps6
|
UTSW |
19 |
45,993,007 (GRCm39) |
missense |
probably benign |
0.03 |
R8444:Hps6
|
UTSW |
19 |
45,993,867 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8530:Hps6
|
UTSW |
19 |
45,991,959 (GRCm39) |
start gained |
probably benign |
|
R8773:Hps6
|
UTSW |
19 |
45,994,141 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8868:Hps6
|
UTSW |
19 |
45,992,446 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9329:Hps6
|
UTSW |
19 |
45,992,542 (GRCm39) |
missense |
probably benign |
0.00 |
R9385:Hps6
|
UTSW |
19 |
45,994,349 (GRCm39) |
missense |
probably damaging |
0.97 |
R9803:Hps6
|
UTSW |
19 |
45,993,947 (GRCm39) |
nonsense |
probably null |
|
X0065:Hps6
|
UTSW |
19 |
45,992,605 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTAATAGTTGCTGCTCCATCTC -3'
(R):5'- GGCTCCAGCAAATGTACTCTG -3'
Sequencing Primer
(F):5'- CTTGGTCTTTCACACAGTAAAAGCC -3'
(R):5'- CAGCAAATGTACTCTGTCTGTACTG -3'
|
Posted On |
2014-10-30 |