Incidental Mutation 'IGL02210:Hps5'
ID |
284676 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hps5
|
Ensembl Gene |
ENSMUSG00000014418 |
Gene Name |
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
Synonyms |
Hermansky-Pudlak syndrome 5, ru-2, ru2, ruby eye 2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
IGL02210
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
46409890-46445488 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 46435994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 184
(Y184C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122887
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014562]
[ENSMUST00000107653]
[ENSMUST00000107654]
[ENSMUST00000123725]
[ENSMUST00000142663]
[ENSMUST00000152759]
[ENSMUST00000211347]
|
AlphaFold |
P59438 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014562
AA Change: Y184C
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000014562 Gene: ENSMUSG00000014418 AA Change: Y184C
Domain | Start | End | E-Value | Type |
SCOP:d1jjub_
|
44 |
192 |
3e-8 |
SMART |
Blast:WD40
|
63 |
103 |
7e-21 |
BLAST |
Blast:WD40
|
111 |
151 |
1e-19 |
BLAST |
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
low complexity region
|
775 |
786 |
N/A |
INTRINSIC |
low complexity region
|
989 |
998 |
N/A |
INTRINSIC |
low complexity region
|
1021 |
1033 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107653
AA Change: Y184C
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000103280 Gene: ENSMUSG00000014418 AA Change: Y184C
Domain | Start | End | E-Value | Type |
SCOP:d1jjub_
|
44 |
192 |
3e-8 |
SMART |
Blast:WD40
|
63 |
103 |
6e-21 |
BLAST |
Blast:WD40
|
111 |
151 |
1e-19 |
BLAST |
low complexity region
|
396 |
416 |
N/A |
INTRINSIC |
low complexity region
|
742 |
753 |
N/A |
INTRINSIC |
low complexity region
|
956 |
965 |
N/A |
INTRINSIC |
low complexity region
|
988 |
1000 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107654
AA Change: Y184C
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000103281 Gene: ENSMUSG00000014418 AA Change: Y184C
Domain | Start | End | E-Value | Type |
SCOP:d1jjub_
|
44 |
192 |
3e-8 |
SMART |
Blast:WD40
|
63 |
103 |
7e-21 |
BLAST |
Blast:WD40
|
111 |
151 |
1e-19 |
BLAST |
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
low complexity region
|
775 |
786 |
N/A |
INTRINSIC |
low complexity region
|
989 |
998 |
N/A |
INTRINSIC |
low complexity region
|
1021 |
1033 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123725
|
SMART Domains |
Protein: ENSMUSP00000116770 Gene: ENSMUSG00000014418
Domain | Start | End | E-Value | Type |
SCOP:d1tbga_
|
24 |
107 |
5e-4 |
SMART |
Blast:WD40
|
63 |
103 |
1e-22 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142663
AA Change: Y184C
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000122887 Gene: ENSMUSG00000014418 AA Change: Y184C
Domain | Start | End | E-Value | Type |
SCOP:d1jjub_
|
44 |
192 |
8e-8 |
SMART |
Blast:WD40
|
63 |
103 |
9e-20 |
BLAST |
Blast:WD40
|
111 |
151 |
2e-19 |
BLAST |
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145776
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152759
AA Change: Y184C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000115786 Gene: ENSMUSG00000014418 AA Change: Y184C
Domain | Start | End | E-Value | Type |
SCOP:d1jjub_
|
44 |
192 |
2e-8 |
SMART |
Blast:WD40
|
63 |
103 |
1e-21 |
BLAST |
Blast:WD40
|
111 |
151 |
2e-20 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211347
AA Change: Y184C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211471
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211528
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This 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 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes have hypopigmented eyes and hair, impaired secretion of lysosomal enzymes by renal proximal tubules and reduced clotting due to a platelet dense granule defect. Homozygotes for one allele are less susceptible to diet-induced atherosclerosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,633,097 (GRCm39) |
F215S |
probably damaging |
Het |
Acvr2a |
A |
T |
2: 48,788,538 (GRCm39) |
H422L |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,492,852 (GRCm39) |
Y908C |
possibly damaging |
Het |
Alyref |
A |
C |
11: 120,488,499 (GRCm39) |
S110A |
possibly damaging |
Het |
Ankrd1 |
T |
C |
19: 36,095,714 (GRCm39) |
D86G |
probably damaging |
Het |
Anpep |
T |
A |
7: 79,476,652 (GRCm39) |
Y29F |
probably benign |
Het |
Appl1 |
T |
C |
14: 26,647,909 (GRCm39) |
|
probably benign |
Het |
Arrdc5 |
T |
C |
17: 56,607,026 (GRCm39) |
D73G |
probably damaging |
Het |
Atp12a |
T |
A |
14: 56,609,201 (GRCm39) |
Y142* |
probably null |
Het |
Clec4a3 |
T |
A |
6: 122,931,067 (GRCm39) |
I52N |
probably damaging |
Het |
Cmya5 |
G |
A |
13: 93,229,242 (GRCm39) |
P1949S |
probably benign |
Het |
Crybb2 |
T |
A |
5: 113,206,253 (GRCm39) |
Q194L |
probably damaging |
Het |
Dmxl2 |
A |
C |
9: 54,311,333 (GRCm39) |
L1796R |
probably damaging |
Het |
Ecm1 |
A |
G |
3: 95,643,289 (GRCm39) |
F337S |
probably damaging |
Het |
F5 |
T |
C |
1: 164,017,710 (GRCm39) |
S596P |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,946,002 (GRCm39) |
T1632A |
probably benign |
Het |
Gm5070 |
T |
G |
3: 95,317,936 (GRCm39) |
|
noncoding transcript |
Het |
Letmd1 |
T |
C |
15: 100,367,128 (GRCm39) |
|
probably null |
Het |
Lipo5 |
A |
T |
19: 33,445,277 (GRCm39) |
N97K |
unknown |
Het |
Mis18bp1 |
A |
T |
12: 65,183,605 (GRCm39) |
Y922* |
probably null |
Het |
Mob3c |
C |
A |
4: 115,690,952 (GRCm39) |
H181N |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,574,054 (GRCm39) |
T711S |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,602,851 (GRCm39) |
T1233A |
probably benign |
Het |
Nherf4 |
T |
G |
9: 44,159,614 (GRCm39) |
T461P |
probably benign |
Het |
Or12e8 |
T |
A |
2: 87,188,347 (GRCm39) |
D186E |
probably damaging |
Het |
Or12k8 |
G |
T |
2: 36,975,631 (GRCm39) |
T43N |
possibly damaging |
Het |
Pcnt |
T |
C |
10: 76,225,053 (GRCm39) |
E1817G |
possibly damaging |
Het |
Pgap4 |
A |
G |
4: 49,586,686 (GRCm39) |
Y161H |
probably benign |
Het |
Phc3 |
A |
G |
3: 30,990,858 (GRCm39) |
V420A |
probably damaging |
Het |
Plekhn1 |
A |
T |
4: 156,308,106 (GRCm39) |
C316S |
probably damaging |
Het |
Ppp1cb |
T |
A |
5: 32,640,818 (GRCm39) |
|
probably benign |
Het |
Slc29a4 |
T |
C |
5: 142,704,534 (GRCm39) |
Y359H |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,477,426 (GRCm39) |
I4982T |
probably damaging |
Het |
Sstr4 |
T |
A |
2: 148,238,229 (GRCm39) |
L280Q |
probably damaging |
Het |
Stap1 |
G |
A |
5: 86,225,920 (GRCm39) |
|
probably null |
Het |
Szt2 |
A |
G |
4: 118,247,020 (GRCm39) |
V865A |
possibly damaging |
Het |
Tnr |
T |
A |
1: 159,679,671 (GRCm39) |
V215D |
probably benign |
Het |
Trpm1 |
T |
C |
7: 63,860,613 (GRCm39) |
L288P |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,959,319 (GRCm39) |
|
probably benign |
Het |
Usp8 |
T |
C |
2: 126,559,976 (GRCm39) |
|
probably benign |
Het |
Uxs1 |
T |
C |
1: 43,789,446 (GRCm39) |
Y403C |
possibly damaging |
Het |
Wnk2 |
T |
C |
13: 49,244,345 (GRCm39) |
E497G |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,250,890 (GRCm39) |
K21E |
probably benign |
Het |
|
Other mutations in Hps5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Hps5
|
APN |
7 |
46,425,362 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00543:Hps5
|
APN |
7 |
46,427,497 (GRCm39) |
missense |
probably benign |
0.37 |
IGL01090:Hps5
|
APN |
7 |
46,437,751 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01351:Hps5
|
APN |
7 |
46,410,856 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01479:Hps5
|
APN |
7 |
46,412,366 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02056:Hps5
|
APN |
7 |
46,437,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02117:Hps5
|
APN |
7 |
46,432,940 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02967:Hps5
|
APN |
7 |
46,418,804 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03046:Hps5
|
APN |
7 |
46,426,463 (GRCm39) |
splice site |
probably benign |
|
IGL03187:Hps5
|
APN |
7 |
46,422,631 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03259:Hps5
|
APN |
7 |
46,412,526 (GRCm39) |
missense |
probably damaging |
0.99 |
dorian_gray
|
UTSW |
7 |
46,784,145 (GRCm38) |
unclassified |
probably benign |
|
smoky
|
UTSW |
7 |
46,418,775 (GRCm39) |
nonsense |
probably null |
|
Titan
|
UTSW |
7 |
46,432,893 (GRCm39) |
critical splice donor site |
probably null |
|
toffee
|
UTSW |
7 |
46,777,075 (GRCm38) |
intron |
probably benign |
|
wombat
|
UTSW |
7 |
46,433,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Hps5
|
UTSW |
7 |
46,426,466 (GRCm39) |
splice site |
probably benign |
|
R0068:Hps5
|
UTSW |
7 |
46,426,466 (GRCm39) |
splice site |
probably benign |
|
R0141:Hps5
|
UTSW |
7 |
46,438,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R0383:Hps5
|
UTSW |
7 |
46,418,712 (GRCm39) |
splice site |
probably null |
|
R0402:Hps5
|
UTSW |
7 |
46,440,333 (GRCm39) |
splice site |
probably benign |
|
R0684:Hps5
|
UTSW |
7 |
46,432,893 (GRCm39) |
critical splice donor site |
probably null |
|
R1159:Hps5
|
UTSW |
7 |
46,421,978 (GRCm39) |
splice site |
probably null |
|
R1938:Hps5
|
UTSW |
7 |
46,422,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R2058:Hps5
|
UTSW |
7 |
46,417,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R3613:Hps5
|
UTSW |
7 |
46,426,298 (GRCm39) |
critical splice donor site |
probably null |
|
R3881:Hps5
|
UTSW |
7 |
46,421,420 (GRCm39) |
missense |
possibly damaging |
0.54 |
R3882:Hps5
|
UTSW |
7 |
46,421,420 (GRCm39) |
missense |
possibly damaging |
0.54 |
R3914:Hps5
|
UTSW |
7 |
46,432,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4095:Hps5
|
UTSW |
7 |
46,425,218 (GRCm39) |
missense |
probably benign |
0.01 |
R4457:Hps5
|
UTSW |
7 |
46,433,037 (GRCm39) |
missense |
probably benign |
0.00 |
R4739:Hps5
|
UTSW |
7 |
46,436,013 (GRCm39) |
missense |
probably benign |
|
R4838:Hps5
|
UTSW |
7 |
46,437,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R4934:Hps5
|
UTSW |
7 |
46,418,775 (GRCm39) |
nonsense |
probably null |
|
R5876:Hps5
|
UTSW |
7 |
46,438,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R6056:Hps5
|
UTSW |
7 |
46,416,521 (GRCm39) |
missense |
probably benign |
0.00 |
R6129:Hps5
|
UTSW |
7 |
46,421,198 (GRCm39) |
missense |
probably benign |
|
R6878:Hps5
|
UTSW |
7 |
46,433,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R7912:Hps5
|
UTSW |
7 |
46,418,826 (GRCm39) |
missense |
probably benign |
0.15 |
R7977:Hps5
|
UTSW |
7 |
46,418,475 (GRCm39) |
missense |
probably benign |
0.03 |
R7987:Hps5
|
UTSW |
7 |
46,418,475 (GRCm39) |
missense |
probably benign |
0.03 |
R8131:Hps5
|
UTSW |
7 |
46,421,312 (GRCm39) |
missense |
probably benign |
0.00 |
R8243:Hps5
|
UTSW |
7 |
46,436,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R8245:Hps5
|
UTSW |
7 |
46,418,485 (GRCm39) |
nonsense |
probably null |
|
R8878:Hps5
|
UTSW |
7 |
46,421,345 (GRCm39) |
missense |
probably benign |
0.07 |
R9050:Hps5
|
UTSW |
7 |
46,422,607 (GRCm39) |
missense |
probably benign |
0.00 |
R9186:Hps5
|
UTSW |
7 |
46,438,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R9278:Hps5
|
UTSW |
7 |
46,440,397 (GRCm39) |
missense |
probably benign |
0.00 |
R9290:Hps5
|
UTSW |
7 |
46,424,331 (GRCm39) |
missense |
probably damaging |
0.97 |
R9303:Hps5
|
UTSW |
7 |
46,438,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9305:Hps5
|
UTSW |
7 |
46,438,619 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9650:Hps5
|
UTSW |
7 |
46,425,354 (GRCm39) |
missense |
probably damaging |
1.00 |
X0021:Hps5
|
UTSW |
7 |
46,412,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |