Incidental Mutation 'IGL01479:Hps5'
| ID |
88563 |
| 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 |
ru-2, ru2, ruby eye 2 |
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
IGL01479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46760466-46796064 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 46762942 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014562]
[ENSMUST00000107653]
[ENSMUST00000107654]
[ENSMUST00000142663]
[ENSMUST00000211347]
|
| AlphaFold |
P59438 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014562
|
| SMART Domains |
Protein: ENSMUSP00000014562
Gene: ENSMUSG00000014418
| 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 null
Transcript: ENSMUST00000107653
|
| SMART Domains |
Protein: ENSMUSP00000103280
Gene: ENSMUSG00000014418
| 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 null
Transcript: ENSMUST00000107654
|
| SMART Domains |
Protein: ENSMUSP00000103281
Gene: ENSMUSG00000014418
| 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: ENSMUST00000130365
|
| SMART Domains |
Protein: ENSMUSP00000114384
Gene: ENSMUSG00000014418
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
103 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138480
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142663
|
| SMART Domains |
Protein: ENSMUSP00000122887
Gene: ENSMUSG00000014418
| 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: ENSMUST00000143627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145776
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153789
|
| SMART Domains |
Protein: ENSMUSP00000119876
Gene: ENSMUSG00000014418
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
241 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211347
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211571
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,272,935 |
K225R |
probably benign |
Het |
| Amn |
C |
A |
12: 111,271,793 |
A47E |
probably damaging |
Het |
| Arhgef1 |
T |
C |
7: 24,912,603 |
I137T |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,728,639 |
K165E |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,144,993 |
|
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,955,717 |
V2923A |
probably benign |
Het |
| Dnaja2 |
T |
C |
8: 85,553,951 |
Y35C |
probably damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,757,893 |
T481A |
probably damaging |
Het |
| Foxred2 |
A |
G |
15: 77,952,289 |
|
probably null |
Het |
| Gin1 |
C |
T |
1: 97,792,372 |
T364I |
possibly damaging |
Het |
| Glt8d2 |
C |
T |
10: 82,660,736 |
V163I |
probably damaging |
Het |
| Gm10118 |
T |
C |
10: 63,926,820 |
|
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,343,501 |
K638E |
probably benign |
Het |
| L3mbtl2 |
A |
G |
15: 81,676,392 |
T285A |
probably benign |
Het |
| Mab21l1 |
A |
G |
3: 55,783,832 |
Y280C |
probably damaging |
Het |
| Mcoln2 |
T |
A |
3: 146,175,652 |
|
probably benign |
Het |
| Myo9b |
G |
T |
8: 71,359,342 |
R1926L |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,865,202 |
V1251A |
probably benign |
Het |
| Rtn4rl1 |
A |
G |
11: 75,265,342 |
D200G |
probably damaging |
Het |
| Sbsn |
G |
A |
7: 30,752,357 |
A266T |
possibly damaging |
Het |
| Sgca |
A |
T |
11: 94,963,378 |
C335* |
probably null |
Het |
| Spag1 |
T |
C |
15: 36,233,199 |
|
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 78,905,576 |
V82D |
probably benign |
Het |
| Tigit |
T |
C |
16: 43,659,522 |
T137A |
probably benign |
Het |
| Tmem125 |
G |
A |
4: 118,541,623 |
Q204* |
probably null |
Het |
| Tmem59l |
C |
T |
8: 70,486,098 |
R111Q |
probably benign |
Het |
| Vmn2r95 |
G |
A |
17: 18,443,862 |
G448R |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,951,679 |
H49R |
probably damaging |
Het |
|
| Other mutations in Hps5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Hps5
|
APN |
7 |
46775938 |
missense |
probably damaging |
1.00 |
|
IGL00543:Hps5
|
APN |
7 |
46778073 |
missense |
probably benign |
0.37 |
|
IGL01090:Hps5
|
APN |
7 |
46788327 |
missense |
probably benign |
0.02 |
|
IGL01351:Hps5
|
APN |
7 |
46761432 |
missense |
probably damaging |
1.00 |
|
IGL02056:Hps5
|
APN |
7 |
46788182 |
missense |
probably damaging |
1.00 |
|
IGL02117:Hps5
|
APN |
7 |
46783516 |
missense |
probably damaging |
1.00 |
|
IGL02210:Hps5
|
APN |
7 |
46786570 |
missense |
probably benign |
0.03 |
|
IGL02967:Hps5
|
APN |
7 |
46769380 |
missense |
possibly damaging |
0.69 |
|
IGL03046:Hps5
|
APN |
7 |
46777039 |
splice site |
probably benign |
|
|
IGL03187:Hps5
|
APN |
7 |
46773207 |
missense |
probably damaging |
1.00 |
|
IGL03259:Hps5
|
APN |
7 |
46763102 |
missense |
probably damaging |
0.99 |
|
dorian_gray
|
UTSW |
7 |
46784145 |
unclassified |
probably benign |
|
|
smoky
|
UTSW |
7 |
46769351 |
nonsense |
probably null |
|
|
Titan
|
UTSW |
7 |
46783469 |
critical splice donor site |
probably null |
|
|
toffee
|
UTSW |
7 |
46777075 |
intron |
probably benign |
|
|
wombat
|
UTSW |
7 |
46783634 |
missense |
probably damaging |
1.00 |
|
R0068:Hps5
|
UTSW |
7 |
46777042 |
splice site |
probably benign |
|
|
R0068:Hps5
|
UTSW |
7 |
46777042 |
splice site |
probably benign |
|
|
R0141:Hps5
|
UTSW |
7 |
46789181 |
missense |
probably damaging |
1.00 |
|
R0383:Hps5
|
UTSW |
7 |
46769288 |
splice site |
probably null |
|
|
R0402:Hps5
|
UTSW |
7 |
46790909 |
splice site |
probably benign |
|
|
R0684:Hps5
|
UTSW |
7 |
46783469 |
critical splice donor site |
probably null |
|
|
R1159:Hps5
|
UTSW |
7 |
46772554 |
splice site |
probably null |
|
|
R1938:Hps5
|
UTSW |
7 |
46773267 |
missense |
probably damaging |
1.00 |
|
R2058:Hps5
|
UTSW |
7 |
46768051 |
missense |
probably damaging |
1.00 |
|
R3613:Hps5
|
UTSW |
7 |
46776874 |
critical splice donor site |
probably null |
|
|
R3881:Hps5
|
UTSW |
7 |
46771996 |
missense |
possibly damaging |
0.54 |
|
R3882:Hps5
|
UTSW |
7 |
46771996 |
missense |
possibly damaging |
0.54 |
|
R3914:Hps5
|
UTSW |
7 |
46783526 |
missense |
probably damaging |
1.00 |
|
R4095:Hps5
|
UTSW |
7 |
46775794 |
missense |
probably benign |
0.01 |
|
R4457:Hps5
|
UTSW |
7 |
46783613 |
missense |
probably benign |
0.00 |
|
R4739:Hps5
|
UTSW |
7 |
46786589 |
missense |
probably benign |
|
|
R4838:Hps5
|
UTSW |
7 |
46788354 |
missense |
probably damaging |
1.00 |
|
R4934:Hps5
|
UTSW |
7 |
46769351 |
nonsense |
probably null |
|
|
R5876:Hps5
|
UTSW |
7 |
46789196 |
missense |
probably damaging |
1.00 |
|
R6056:Hps5
|
UTSW |
7 |
46767097 |
missense |
probably benign |
0.00 |
|
R6129:Hps5
|
UTSW |
7 |
46771774 |
missense |
probably benign |
|
|
R6878:Hps5
|
UTSW |
7 |
46783634 |
missense |
probably damaging |
1.00 |
|
R7912:Hps5
|
UTSW |
7 |
46769402 |
missense |
probably benign |
0.15 |
|
R7977:Hps5
|
UTSW |
7 |
46769051 |
missense |
probably benign |
0.03 |
|
R7987:Hps5
|
UTSW |
7 |
46769051 |
missense |
probably benign |
0.03 |
|
R8131:Hps5
|
UTSW |
7 |
46771888 |
missense |
probably benign |
0.00 |
|
R8243:Hps5
|
UTSW |
7 |
46786642 |
missense |
probably damaging |
1.00 |
|
R8245:Hps5
|
UTSW |
7 |
46769061 |
nonsense |
probably null |
|
|
R8878:Hps5
|
UTSW |
7 |
46771921 |
missense |
probably benign |
0.07 |
|
R9050:Hps5
|
UTSW |
7 |
46773183 |
missense |
probably benign |
0.00 |
|
R9186:Hps5
|
UTSW |
7 |
46788946 |
missense |
probably damaging |
1.00 |
|
R9278:Hps5
|
UTSW |
7 |
46790973 |
missense |
probably benign |
0.00 |
|
R9290:Hps5
|
UTSW |
7 |
46774907 |
missense |
probably damaging |
0.97 |
|
R9303:Hps5
|
UTSW |
7 |
46789195 |
missense |
possibly damaging |
0.94 |
|
R9305:Hps5
|
UTSW |
7 |
46789195 |
missense |
possibly damaging |
0.94 |
|
X0021:Hps5
|
UTSW |
7 |
46763093 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
