Incidental Mutation 'IGL02967:Hps5'
| ID |
365633 |
| 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: 0.113)
|
| Stock # |
IGL02967
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46409890-46445488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46418804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 789
(L789Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014562]
[ENSMUST00000107653]
[ENSMUST00000107654]
[ENSMUST00000142663]
[ENSMUST00000211347]
|
| AlphaFold |
P59438 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014562
AA Change: L822Q
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000014562
Gene: ENSMUSG00000014418
AA Change: L822Q
| 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 |
possibly damaging
Transcript: ENSMUST00000107653
AA Change: L789Q
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103280
Gene: ENSMUSG00000014418
AA Change: L789Q
| 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: L822Q
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103281
Gene: ENSMUSG00000014418
AA Change: L822Q
| 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 |
unknown
Transcript: ENSMUST00000130365
AA Change: L138Q
|
| SMART Domains |
Protein: ENSMUSP00000114384
Gene: ENSMUSG00000014418
AA Change: L138Q
| 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 |
unknown
Transcript: ENSMUST00000153789
AA Change: L287Q
|
| SMART Domains |
Protein: ENSMUSP00000119876
Gene: ENSMUSG00000014418
AA Change: L287Q
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145776
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,328,291 (GRCm39) |
T3455A |
probably damaging |
Het |
| Abca8a |
G |
A |
11: 109,941,762 (GRCm39) |
P1169L |
probably damaging |
Het |
| Ablim3 |
T |
A |
18: 61,959,574 (GRCm39) |
K272* |
probably null |
Het |
| Abtb3 |
A |
G |
10: 85,469,646 (GRCm39) |
T856A |
probably benign |
Het |
| Acin1 |
A |
G |
14: 54,880,210 (GRCm39) |
V574A |
possibly damaging |
Het |
| Acot4 |
A |
T |
12: 84,090,235 (GRCm39) |
I311L |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,026,164 (GRCm39) |
A1273V |
probably benign |
Het |
| Ap1g2 |
T |
A |
14: 55,342,479 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
T |
12: 8,065,366 (GRCm39) |
K4112* |
probably null |
Het |
| Aspdh |
A |
G |
7: 44,114,963 (GRCm39) |
|
probably null |
Het |
| Atf7ip |
T |
C |
6: 136,583,725 (GRCm39) |
I1252T |
probably damaging |
Het |
| Avpr1a |
A |
G |
10: 122,285,367 (GRCm39) |
T220A |
possibly damaging |
Het |
| Bdp1 |
A |
G |
13: 100,178,778 (GRCm39) |
F1856S |
possibly damaging |
Het |
| Cit |
A |
T |
5: 116,083,896 (GRCm39) |
N743I |
probably benign |
Het |
| Clvs2 |
T |
C |
10: 33,471,784 (GRCm39) |
K174E |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,893,222 (GRCm39) |
Q351L |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,672,919 (GRCm39) |
V550L |
possibly damaging |
Het |
| Edem1 |
T |
G |
6: 108,813,738 (GRCm39) |
S178A |
probably damaging |
Het |
| Fam222b |
C |
T |
11: 78,044,934 (GRCm39) |
A165V |
probably benign |
Het |
| Fer |
T |
C |
17: 64,203,262 (GRCm39) |
V64A |
possibly damaging |
Het |
| Fggy |
T |
G |
4: 95,814,986 (GRCm39) |
F535C |
possibly damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,222,627 (GRCm39) |
S1091T |
probably damaging |
Het |
| Fstl5 |
G |
A |
3: 76,229,498 (GRCm39) |
V100M |
probably damaging |
Het |
| Fut7 |
G |
T |
2: 25,315,155 (GRCm39) |
V91L |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,103,067 (GRCm39) |
C565S |
probably damaging |
Het |
| Gzmm |
C |
T |
10: 79,530,897 (GRCm39) |
T233I |
possibly damaging |
Het |
| Krt32 |
G |
A |
11: 99,974,876 (GRCm39) |
S357F |
possibly damaging |
Het |
| Lrig2 |
C |
T |
3: 104,401,512 (GRCm39) |
|
probably benign |
Het |
| Lrp8 |
C |
A |
4: 107,718,431 (GRCm39) |
Q678K |
probably benign |
Het |
| Mmp27 |
C |
A |
9: 7,571,591 (GRCm39) |
Q45K |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,099,896 (GRCm39) |
D602G |
possibly damaging |
Het |
| Ncoa1 |
G |
T |
12: 4,345,294 (GRCm39) |
H684Q |
probably damaging |
Het |
| Nol9 |
T |
C |
4: 152,125,559 (GRCm39) |
V170A |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,053,460 (GRCm39) |
D2041G |
probably damaging |
Het |
| Nrg3 |
G |
T |
14: 38,390,256 (GRCm39) |
|
probably benign |
Het |
| Nuak1 |
T |
A |
10: 84,276,085 (GRCm39) |
H46L |
probably damaging |
Het |
| Pdzd2 |
G |
T |
15: 12,374,427 (GRCm39) |
Q1903K |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,913,554 (GRCm39) |
V616A |
probably damaging |
Het |
| Ppp6c |
A |
G |
2: 39,116,229 (GRCm39) |
Y9H |
probably damaging |
Het |
| Prdm11 |
A |
T |
2: 92,843,234 (GRCm39) |
F75Y |
probably damaging |
Het |
| Prelid1 |
G |
A |
13: 55,472,219 (GRCm39) |
V132I |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,201,740 (GRCm39) |
S227P |
probably damaging |
Het |
| Psmb5 |
G |
A |
14: 54,854,083 (GRCm39) |
R132C |
probably benign |
Het |
| Pus10 |
A |
G |
11: 23,668,602 (GRCm39) |
N360D |
probably damaging |
Het |
| Pygm |
G |
A |
19: 6,443,868 (GRCm39) |
V610M |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,384,349 (GRCm39) |
|
probably benign |
Het |
| Sfmbt1 |
T |
A |
14: 30,538,759 (GRCm39) |
W793R |
probably damaging |
Het |
| Slc25a4 |
A |
G |
8: 46,662,187 (GRCm39) |
L157P |
probably damaging |
Het |
| Sost |
T |
G |
11: 101,855,084 (GRCm39) |
E75A |
possibly damaging |
Het |
| Tdrd9 |
A |
G |
12: 111,958,922 (GRCm39) |
S119G |
possibly damaging |
Het |
| Tepsin |
A |
G |
11: 119,984,954 (GRCm39) |
I238T |
probably benign |
Het |
| Tfr2 |
T |
A |
5: 137,581,081 (GRCm39) |
L507* |
probably null |
Het |
| Tmem106a |
T |
C |
11: 101,477,121 (GRCm39) |
I110T |
possibly damaging |
Het |
| Tmem38a |
A |
T |
8: 73,339,926 (GRCm39) |
D298V |
possibly damaging |
Het |
| Tmprss12 |
A |
T |
15: 100,183,262 (GRCm39) |
R201S |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,238,759 (GRCm39) |
T271A |
possibly damaging |
Het |
| Virma |
T |
G |
4: 11,514,096 (GRCm39) |
V650G |
probably benign |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,162 (GRCm39) |
I178N |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,604,901 (GRCm39) |
S1276P |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,146,398 (GRCm39) |
Y29C |
probably damaging |
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 |
|
IGL02210:Hps5
|
APN |
7 |
46,435,994 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
2015-12-18 |
Incidental Mutation