Incidental Mutation 'R1036:Hps6'
| ID |
93828 |
| 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 |
039135-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
45991947-45994612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45992680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 206
(T206A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099393]
|
| AlphaFold |
Q8BLY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099393
AA Change: T206A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096991
Gene: ENSMUSG00000074811
AA Change: T206A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HPS6
|
1 |
772 |
1e-281 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181820
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.2%
|
| Validation Efficiency |
100% (40/40) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,302,569 (GRCm39) |
|
probably null |
Het |
| Abcg1 |
C |
A |
17: 31,330,243 (GRCm39) |
Q515K |
probably damaging |
Het |
| Acaa1b |
A |
T |
9: 118,979,884 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
T |
C |
5: 89,843,952 (GRCm39) |
|
probably benign |
Het |
| Aoah |
A |
C |
13: 21,024,339 (GRCm39) |
|
probably benign |
Het |
| Arhgap10 |
G |
A |
8: 78,037,398 (GRCm39) |
P610L |
probably damaging |
Het |
| Casq2 |
G |
T |
3: 102,049,531 (GRCm39) |
A295S |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,945,397 (GRCm39) |
Y906H |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 39,007,113 (GRCm39) |
I349N |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,383,386 (GRCm39) |
|
probably benign |
Het |
| Enpep |
C |
A |
3: 129,077,758 (GRCm39) |
V620L |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,735,815 (GRCm39) |
S268G |
possibly damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Gatd1 |
T |
A |
7: 140,989,045 (GRCm39) |
T205S |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,325,775 (GRCm39) |
V604E |
probably damaging |
Het |
| Ghsr |
T |
A |
3: 27,428,869 (GRCm39) |
I298N |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,489,461 (GRCm39) |
Y683H |
probably benign |
Het |
| Gpr162 |
T |
A |
6: 124,837,823 (GRCm39) |
I276F |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,462,445 (GRCm39) |
|
probably benign |
Het |
| Krt90 |
A |
G |
15: 101,471,151 (GRCm39) |
V37A |
probably benign |
Het |
| Lmbr1 |
T |
C |
5: 29,463,745 (GRCm39) |
K160E |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,487,032 (GRCm39) |
T73A |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,593,199 (GRCm39) |
D826E |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,100,247 (GRCm39) |
|
probably benign |
Het |
| Omd |
A |
G |
13: 49,743,447 (GRCm39) |
R166G |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,199,400 (GRCm39) |
|
probably benign |
Het |
| Ptgdr |
A |
G |
14: 45,096,572 (GRCm39) |
S47P |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,742,965 (GRCm39) |
I940V |
probably benign |
Het |
| Shkbp1 |
A |
G |
7: 27,044,721 (GRCm39) |
S457P |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,876,493 (GRCm39) |
V138A |
possibly damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,838,193 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
A |
G |
1: 28,816,883 (GRCm39) |
L383P |
probably benign |
Het |
| Srsf7 |
A |
T |
17: 80,513,266 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
T |
C |
2: 166,793,235 (GRCm39) |
K300R |
probably damaging |
Het |
| Stox1 |
A |
T |
10: 62,503,674 (GRCm39) |
I127K |
probably damaging |
Het |
| Sympk |
G |
A |
7: 18,782,378 (GRCm39) |
R832Q |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,437,513 (GRCm39) |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCAGAGCACTGAGCTGTGTCC -3'
(R):5'- ACAACAAGCCCTGCGAAGATGG -3'
Sequencing Primer
(F):5'- TCAGCCGGGTGTTAAGGAC -3'
(R):5'- GTGTACAGCCAGTGGCTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation