Incidental Mutation 'R3156:Hps6'
ID |
263522 |
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 |
040607-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3156 (G1)
|
Quality Score |
180 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
45991947-45994612 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45992180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 39
(D39G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096991
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099393]
|
AlphaFold |
Q8BLY7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099393
AA Change: D39G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096991 Gene: ENSMUSG00000074811 AA Change: D39G
Domain | Start | End | E-Value | Type |
Pfam:HPS6
|
1 |
772 |
1e-281 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181820
|
Meta Mutation Damage Score |
0.1351 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (39/40) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
T |
C |
1: 85,859,104 (GRCm39) |
|
probably benign |
Het |
Adra2b |
T |
C |
2: 127,205,570 (GRCm39) |
L29P |
probably damaging |
Het |
Anxa9 |
A |
T |
3: 95,209,716 (GRCm39) |
D134E |
probably benign |
Het |
Atad1 |
A |
T |
19: 32,684,355 (GRCm39) |
N14K |
probably benign |
Het |
Cbl |
T |
C |
9: 44,070,147 (GRCm39) |
I533M |
possibly damaging |
Het |
Cdca2 |
T |
C |
14: 67,935,612 (GRCm39) |
N368D |
possibly damaging |
Het |
Cfap45 |
A |
T |
1: 172,373,291 (GRCm39) |
N543Y |
possibly damaging |
Het |
Col4a2 |
T |
A |
8: 11,363,414 (GRCm39) |
|
probably benign |
Het |
Dis3l |
T |
C |
9: 64,219,032 (GRCm39) |
T633A |
probably benign |
Het |
Dnah5 |
G |
A |
15: 28,438,237 (GRCm39) |
|
probably benign |
Het |
Fut2 |
A |
T |
7: 45,300,091 (GRCm39) |
L227Q |
probably damaging |
Het |
Gcnt2 |
T |
C |
13: 41,014,654 (GRCm39) |
V275A |
probably benign |
Het |
Glrp1 |
C |
A |
1: 88,430,976 (GRCm39) |
Q131H |
unknown |
Het |
Gm6871 |
T |
C |
7: 41,223,079 (GRCm39) |
N3S |
probably benign |
Het |
Hmgcs1 |
C |
T |
13: 120,166,614 (GRCm39) |
T402I |
probably benign |
Het |
Mab21l4 |
T |
A |
1: 93,087,764 (GRCm39) |
I30F |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,446,179 (GRCm39) |
|
probably benign |
Het |
Myh6 |
A |
G |
14: 55,182,125 (GRCm39) |
I1761T |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,796,262 (GRCm39) |
|
probably null |
Het |
Or4k15c |
T |
C |
14: 50,321,982 (GRCm39) |
D52G |
probably benign |
Het |
Or7g27 |
A |
G |
9: 19,250,720 (GRCm39) |
|
probably null |
Het |
Patj |
A |
G |
4: 98,562,465 (GRCm39) |
E1478G |
probably damaging |
Het |
Paxbp1 |
T |
C |
16: 90,832,878 (GRCm39) |
T304A |
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,679,071 (GRCm39) |
K1006N |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ror2 |
G |
T |
13: 53,271,400 (GRCm39) |
N306K |
probably damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,038 (GRCm39) |
D248G |
probably benign |
Het |
Secisbp2 |
A |
G |
13: 51,816,711 (GRCm39) |
T288A |
probably benign |
Het |
Setbp1 |
A |
G |
18: 78,902,518 (GRCm39) |
V383A |
probably benign |
Het |
Sez6 |
T |
A |
11: 77,844,605 (GRCm39) |
S143T |
possibly damaging |
Het |
Slc5a9 |
A |
T |
4: 111,747,421 (GRCm39) |
I322N |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,260,016 (GRCm39) |
|
probably null |
Het |
Tex2 |
A |
G |
11: 106,424,695 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
T |
15: 76,523,721 (GRCm39) |
L64Q |
probably damaging |
Het |
Triml2 |
A |
G |
8: 43,640,716 (GRCm39) |
N191D |
probably benign |
Het |
Trpc1 |
C |
T |
9: 95,603,185 (GRCm39) |
|
probably null |
Het |
Yeats4 |
C |
T |
10: 117,058,186 (GRCm39) |
V22I |
probably benign |
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 |
R2332:Hps6
|
UTSW |
19 |
45,992,930 (GRCm39) |
missense |
possibly damaging |
0.82 |
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'- TCACCTCATTCACCAGGGAC -3'
(R):5'- AGTAGCTTCCATCCAGGCTC -3'
Sequencing Primer
(F):5'- CTCATTCACCAGGGACGGAAG -3'
(R):5'- GCTAGGCCACTCTCCCATAC -3'
|
Posted On |
2015-02-05 |