Incidental Mutation 'IGL02410:Hps4'
ID |
292265 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hps4
|
Ensembl Gene |
ENSMUSG00000042328 |
Gene Name |
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
Synonyms |
BLOC-3, 2010205O06Rik, Hermansky-Pudlak syndrome 4, C130020P05Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.292)
|
Stock # |
IGL02410
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
112490949-112526280 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112518093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 362
(V362A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107978
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035279]
[ENSMUST00000112359]
|
AlphaFold |
Q99KG7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035279
AA Change: V362A
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000047920 Gene: ENSMUSG00000042328 AA Change: V362A
Domain | Start | End | E-Value | Type |
low complexity region
|
171 |
180 |
N/A |
INTRINSIC |
low complexity region
|
467 |
486 |
N/A |
INTRINSIC |
low complexity region
|
514 |
529 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112359
AA Change: V362A
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000107978 Gene: ENSMUSG00000042328 AA Change: V362A
Domain | Start | End | E-Value | Type |
low complexity region
|
171 |
180 |
N/A |
INTRINSIC |
low complexity region
|
467 |
486 |
N/A |
INTRINSIC |
low complexity region
|
514 |
529 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129839
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133708
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176660
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196925
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199500
|
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 component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] PHENOTYPE: Homozygotes for a spontaneous null mutation exhibit hypopigmentation, prolonged bleeding associated with a platelet defect, reduced secretion of kidney lysosomal enzymes, and resistance to diet-induced atherosclerosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
G |
A |
1: 165,337,977 (GRCm39) |
C197Y |
probably damaging |
Het |
Ano2 |
A |
G |
6: 125,792,496 (GRCm39) |
|
probably null |
Het |
Aqr |
A |
G |
2: 113,967,398 (GRCm39) |
V539A |
possibly damaging |
Het |
Bnip3 |
C |
A |
7: 138,500,528 (GRCm39) |
G21C |
probably damaging |
Het |
Cul1 |
T |
A |
6: 47,461,948 (GRCm39) |
M37K |
probably damaging |
Het |
Dazl |
T |
C |
17: 50,600,426 (GRCm39) |
|
probably benign |
Het |
Dsg2 |
A |
G |
18: 20,735,189 (GRCm39) |
T1056A |
probably benign |
Het |
Ewsr1 |
A |
G |
11: 5,043,863 (GRCm39) |
|
probably benign |
Het |
Fam167b |
G |
A |
4: 129,472,011 (GRCm39) |
A53V |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,909,141 (GRCm39) |
Y2287C |
probably damaging |
Het |
H2-M10.3 |
A |
T |
17: 36,677,428 (GRCm39) |
H283Q |
probably damaging |
Het |
Hectd2 |
C |
T |
19: 36,572,613 (GRCm39) |
R39* |
probably null |
Het |
Hnrnph3 |
A |
G |
10: 62,851,503 (GRCm39) |
|
probably benign |
Het |
Igkv9-120 |
A |
C |
6: 68,027,027 (GRCm39) |
|
probably benign |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,795,977 (GRCm39) |
T417A |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,490,648 (GRCm39) |
V1307A |
probably benign |
Het |
Mpdz |
T |
C |
4: 81,215,730 (GRCm39) |
E1511G |
probably benign |
Het |
Nprl3 |
A |
T |
11: 32,217,539 (GRCm39) |
M1K |
probably null |
Het |
Or9i2 |
A |
G |
19: 13,816,495 (GRCm39) |
I14T |
probably benign |
Het |
Ppp1r15a |
A |
G |
7: 45,173,479 (GRCm39) |
V443A |
probably damaging |
Het |
Psmd1 |
T |
G |
1: 86,005,159 (GRCm39) |
L198V |
probably damaging |
Het |
Rapgef4 |
A |
T |
2: 72,056,938 (GRCm39) |
I566F |
possibly damaging |
Het |
Rbbp8 |
T |
A |
18: 11,865,269 (GRCm39) |
D719E |
probably damaging |
Het |
Siah2 |
T |
C |
3: 58,583,468 (GRCm39) |
R273G |
probably damaging |
Het |
Siglecg |
C |
T |
7: 43,058,253 (GRCm39) |
P47S |
probably damaging |
Het |
Sox6 |
A |
G |
7: 115,085,979 (GRCm39) |
S621P |
probably damaging |
Het |
Spata31e5 |
A |
G |
1: 28,817,712 (GRCm39) |
S107P |
probably benign |
Het |
Ttn |
C |
A |
2: 76,555,278 (GRCm39) |
A30576S |
probably benign |
Het |
Ttyh1 |
A |
G |
7: 4,136,898 (GRCm39) |
|
probably benign |
Het |
Ush2a |
C |
T |
1: 188,648,194 (GRCm39) |
R4600C |
probably damaging |
Het |
Usp36 |
C |
T |
11: 118,167,011 (GRCm39) |
V289M |
probably damaging |
Het |
|
Other mutations in Hps4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01485:Hps4
|
APN |
5 |
112,512,377 (GRCm39) |
splice site |
probably benign |
|
IGL02331:Hps4
|
APN |
5 |
112,517,402 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02821:Hps4
|
APN |
5 |
112,523,307 (GRCm39) |
missense |
probably benign |
0.02 |
R0748:Hps4
|
UTSW |
5 |
112,522,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R1487:Hps4
|
UTSW |
5 |
112,525,865 (GRCm39) |
nonsense |
probably null |
|
R1891:Hps4
|
UTSW |
5 |
112,517,422 (GRCm39) |
splice site |
probably null |
|
R2010:Hps4
|
UTSW |
5 |
112,517,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R2305:Hps4
|
UTSW |
5 |
112,494,527 (GRCm39) |
missense |
probably damaging |
0.99 |
R3196:Hps4
|
UTSW |
5 |
112,512,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R4274:Hps4
|
UTSW |
5 |
112,522,896 (GRCm39) |
intron |
probably benign |
|
R4878:Hps4
|
UTSW |
5 |
112,523,234 (GRCm39) |
missense |
probably benign |
0.12 |
R4988:Hps4
|
UTSW |
5 |
112,526,019 (GRCm39) |
utr 3 prime |
probably benign |
|
R5843:Hps4
|
UTSW |
5 |
112,497,296 (GRCm39) |
critical splice donor site |
probably null |
|
R5896:Hps4
|
UTSW |
5 |
112,517,351 (GRCm39) |
missense |
probably benign |
0.02 |
R6318:Hps4
|
UTSW |
5 |
112,494,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R7381:Hps4
|
UTSW |
5 |
112,523,324 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7781:Hps4
|
UTSW |
5 |
112,518,388 (GRCm39) |
missense |
probably benign |
0.14 |
R8112:Hps4
|
UTSW |
5 |
112,517,977 (GRCm39) |
missense |
probably benign |
0.17 |
R8996:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9058:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9059:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9060:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9103:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9105:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9106:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9175:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9210:Hps4
|
UTSW |
5 |
112,497,227 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9226:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9227:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9229:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9230:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9232:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9233:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9234:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9236:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9330:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9459:Hps4
|
UTSW |
5 |
112,522,875 (GRCm39) |
missense |
probably benign |
0.30 |
Z1177:Hps4
|
UTSW |
5 |
112,518,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |