Incidental Mutation 'IGL02331:Hps4'
ID |
288672 |
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 # |
IGL02331
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
112490949-112526280 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112517402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 263
(V263A)
|
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: V263A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000047920 Gene: ENSMUSG00000042328 AA Change: V263A
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: V263A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000107978 Gene: ENSMUSG00000042328 AA Change: V263A
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
T |
G |
11: 105,862,170 (GRCm39) |
F241L |
possibly damaging |
Het |
Alx1 |
A |
G |
10: 102,858,160 (GRCm39) |
F180L |
possibly damaging |
Het |
Apaf1 |
T |
C |
10: 90,895,481 (GRCm39) |
D428G |
probably damaging |
Het |
Arap2 |
G |
T |
5: 62,807,025 (GRCm39) |
|
probably benign |
Het |
Arnt2 |
A |
G |
7: 83,914,832 (GRCm39) |
Y511H |
probably damaging |
Het |
Bmp7 |
A |
T |
2: 172,714,724 (GRCm39) |
C362S |
probably damaging |
Het |
Bpifb9a |
A |
G |
2: 154,104,307 (GRCm39) |
D250G |
possibly damaging |
Het |
Ccnk |
T |
A |
12: 108,155,343 (GRCm39) |
L100H |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,301,322 (GRCm39) |
I451V |
probably damaging |
Het |
Cemip |
A |
G |
7: 83,613,192 (GRCm39) |
|
probably null |
Het |
Cep78 |
T |
A |
19: 15,951,779 (GRCm39) |
Q342L |
probably benign |
Het |
Clca3b |
T |
C |
3: 144,547,167 (GRCm39) |
|
probably benign |
Het |
Cpb2 |
A |
G |
14: 75,520,844 (GRCm39) |
R420G |
possibly damaging |
Het |
Cyp2c50 |
A |
T |
19: 40,079,387 (GRCm39) |
|
probably null |
Het |
Dbnl |
T |
C |
11: 5,749,997 (GRCm39) |
*433R |
probably null |
Het |
Elovl5 |
T |
C |
9: 77,887,181 (GRCm39) |
S191P |
possibly damaging |
Het |
Fbxo42 |
A |
G |
4: 140,895,157 (GRCm39) |
E40G |
probably benign |
Het |
Fpgt |
T |
C |
3: 154,793,499 (GRCm39) |
D176G |
possibly damaging |
Het |
Gm1110 |
C |
A |
9: 26,824,583 (GRCm39) |
|
probably null |
Het |
Grik4 |
A |
T |
9: 42,453,284 (GRCm39) |
S700R |
probably damaging |
Het |
Herc4 |
T |
C |
10: 63,099,939 (GRCm39) |
S121P |
probably benign |
Het |
Hsd11b1 |
A |
C |
1: 192,922,924 (GRCm39) |
L81R |
probably damaging |
Het |
Ift122 |
T |
C |
6: 115,864,285 (GRCm39) |
M310T |
probably damaging |
Het |
Isg20l2 |
G |
T |
3: 87,839,394 (GRCm39) |
V202L |
probably damaging |
Het |
Klf3 |
A |
G |
5: 64,986,415 (GRCm39) |
K111E |
probably damaging |
Het |
Kxd1 |
T |
C |
8: 70,968,090 (GRCm39) |
T128A |
probably benign |
Het |
Lgals7 |
A |
G |
7: 28,565,143 (GRCm39) |
T94A |
probably benign |
Het |
Lrp5 |
T |
C |
19: 3,641,816 (GRCm39) |
H1382R |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,226,726 (GRCm39) |
T1434A |
possibly damaging |
Het |
Mybl2 |
C |
T |
2: 162,916,605 (GRCm39) |
R419W |
probably damaging |
Het |
Myo5b |
A |
T |
18: 74,771,111 (GRCm39) |
|
probably null |
Het |
Myo7a |
A |
G |
7: 97,702,389 (GRCm39) |
V2138A |
possibly damaging |
Het |
Naip1 |
T |
A |
13: 100,563,304 (GRCm39) |
K620N |
probably benign |
Het |
Ntrk2 |
T |
C |
13: 58,994,670 (GRCm39) |
|
probably null |
Het |
Or8g21 |
A |
G |
9: 38,906,402 (GRCm39) |
S110P |
probably damaging |
Het |
Osbpl5 |
A |
G |
7: 143,263,532 (GRCm39) |
V105A |
probably benign |
Het |
Pfkp |
A |
C |
13: 6,647,996 (GRCm39) |
F527V |
probably benign |
Het |
Pilra |
C |
A |
5: 137,833,917 (GRCm39) |
G47* |
probably null |
Het |
Pkdrej |
C |
A |
15: 85,705,528 (GRCm39) |
C136F |
probably damaging |
Het |
Ppp1r16a |
T |
A |
15: 76,575,200 (GRCm39) |
M36K |
probably benign |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Rnf40 |
T |
C |
7: 127,188,999 (GRCm39) |
V124A |
probably benign |
Het |
St7l |
A |
G |
3: 104,833,904 (GRCm39) |
T522A |
probably damaging |
Het |
Stox2 |
G |
A |
8: 47,644,979 (GRCm39) |
P891L |
probably damaging |
Het |
Trbv12-1 |
T |
C |
6: 41,090,972 (GRCm39) |
S115P |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,884,800 (GRCm39) |
D827G |
probably benign |
Het |
Ttll6 |
T |
A |
11: 96,026,573 (GRCm39) |
M119K |
probably damaging |
Het |
Ufl1 |
C |
A |
4: 25,251,971 (GRCm39) |
C568F |
probably damaging |
Het |
Usp29 |
A |
T |
7: 6,965,155 (GRCm39) |
I333F |
probably benign |
Het |
Vta1 |
G |
A |
10: 14,581,138 (GRCm39) |
T23M |
probably damaging |
Het |
Zswim8 |
A |
G |
14: 20,773,325 (GRCm39) |
D1771G |
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 |
|
IGL02410:Hps4
|
APN |
5 |
112,518,093 (GRCm39) |
missense |
probably benign |
0.07 |
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 |