Incidental Mutation 'IGL00743:Hps6'
| ID |
11332 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00743
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
45991947-45994612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45992099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 12
(D12V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099393]
|
| AlphaFold |
Q8BLY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099393
AA Change: D12V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096991
Gene: ENSMUSG00000074811
AA Change: D12V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HPS6
|
1 |
772 |
1e-281 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181820
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 |
|---|
| Acss1 |
T |
C |
2: 150,461,606 (GRCm39) |
E659G |
probably benign |
Het |
| Adgrg6 |
A |
C |
10: 14,411,703 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,718,227 (GRCm39) |
K323E |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,424,416 (GRCm39) |
S628R |
probably benign |
Het |
| Baz2a |
T |
C |
10: 127,950,395 (GRCm39) |
V443A |
probably benign |
Het |
| Bclaf3 |
T |
A |
X: 158,341,357 (GRCm39) |
F545Y |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,717,196 (GRCm39) |
Y88C |
probably damaging |
Het |
| Ccdc178 |
C |
T |
18: 22,278,501 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,875,153 (GRCm39) |
T312A |
probably benign |
Het |
| Chrnd |
G |
A |
1: 87,120,649 (GRCm39) |
W91* |
probably null |
Het |
| Cntln |
T |
C |
4: 84,897,652 (GRCm39) |
F413S |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,183,998 (GRCm39) |
I308N |
probably damaging |
Het |
| Cyp2d34 |
A |
T |
15: 82,501,736 (GRCm39) |
V258D |
probably damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,039,979 (GRCm39) |
P2044S |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hpse |
T |
C |
5: 100,846,865 (GRCm39) |
D188G |
probably benign |
Het |
| Id2 |
C |
A |
12: 25,145,355 (GRCm39) |
E123* |
probably null |
Het |
| Ints10 |
C |
T |
8: 69,271,985 (GRCm39) |
P562L |
probably damaging |
Het |
| Kctd10 |
G |
A |
5: 114,505,410 (GRCm39) |
R195C |
probably damaging |
Het |
| Kel |
A |
C |
6: 41,665,509 (GRCm39) |
L537R |
probably damaging |
Het |
| Kif19a |
T |
C |
11: 114,675,599 (GRCm39) |
V357A |
probably damaging |
Het |
| Lrrtm3 |
A |
T |
10: 63,924,988 (GRCm39) |
S60T |
probably damaging |
Het |
| Myof |
C |
A |
19: 37,949,382 (GRCm39) |
R608L |
probably benign |
Het |
| Naa35 |
A |
T |
13: 59,778,485 (GRCm39) |
I669F |
probably benign |
Het |
| Or8g2b |
A |
T |
9: 39,751,002 (GRCm39) |
I91F |
probably benign |
Het |
| Or8g53 |
A |
G |
9: 39,683,407 (GRCm39) |
S230P |
possibly damaging |
Het |
| Pclo |
G |
T |
5: 14,728,035 (GRCm39) |
|
probably benign |
Het |
| Pik3c3 |
C |
T |
18: 30,407,417 (GRCm39) |
S55F |
probably damaging |
Het |
| Prdm6 |
T |
G |
18: 53,673,300 (GRCm39) |
D153E |
possibly damaging |
Het |
| Rnf183 |
T |
C |
4: 62,346,610 (GRCm39) |
T63A |
probably benign |
Het |
| Samd4b |
A |
C |
7: 28,101,302 (GRCm39) |
I108S |
probably damaging |
Het |
| Slc9a7 |
T |
C |
X: 19,972,260 (GRCm39) |
D708G |
possibly damaging |
Het |
| Stim2 |
A |
G |
5: 54,210,835 (GRCm39) |
D90G |
probably benign |
Het |
| Tmem52b |
A |
G |
6: 129,493,678 (GRCm39) |
D97G |
probably damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,652,518 (GRCm39) |
R98G |
probably benign |
Het |
| Uxs1 |
C |
T |
1: 43,796,173 (GRCm39) |
V310I |
probably benign |
Het |
| Vcan |
A |
C |
13: 89,873,425 (GRCm39) |
M143R |
probably damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,504 (GRCm39) |
F792S |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,355,962 (GRCm39) |
I345T |
probably benign |
Het |
| Zfp938 |
A |
T |
10: 82,062,317 (GRCm39) |
M101K |
probably benign |
Het |
| Zkscan2 |
A |
G |
7: 123,079,195 (GRCm39) |
S921P |
probably damaging |
Het |
|
| Other mutations in Hps6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2332:Hps6
|
UTSW |
19 |
45,992,930 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation