Incidental Mutation 'IGL02821:Hps4'
| ID |
360992 |
| 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: 0.272)
|
| Stock # |
IGL02821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
112490949-112526280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 112523307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 608
(M608I)
|
| 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: M608I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000047920
Gene: ENSMUSG00000042328
AA Change: M608I
| 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: M608I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000107978
Gene: ENSMUSG00000042328
AA Change: M608I
| 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: ENSMUST00000133708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177121
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
T |
C |
14: 35,818,473 (GRCm39) |
L157S |
probably benign |
Het |
| Adam15 |
A |
G |
3: 89,252,663 (GRCm39) |
S309P |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,630,415 (GRCm39) |
M772K |
possibly damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,282,442 (GRCm39) |
M402V |
probably benign |
Het |
| Anln |
G |
A |
9: 22,269,418 (GRCm39) |
T822I |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,260,125 (GRCm39) |
V589A |
probably benign |
Het |
| Ccm2l |
C |
T |
2: 152,909,779 (GRCm39) |
L44F |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,443,818 (GRCm39) |
L760Q |
probably damaging |
Het |
| Cd177 |
G |
T |
7: 24,443,819 (GRCm39) |
L760M |
probably damaging |
Het |
| Cfap69 |
T |
C |
5: 5,714,017 (GRCm39) |
E5G |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,731,600 (GRCm39) |
D1551V |
probably damaging |
Het |
| Ddx20 |
A |
G |
3: 105,586,593 (GRCm39) |
V584A |
probably benign |
Het |
| Dop1a |
C |
A |
9: 86,402,209 (GRCm39) |
H1136Q |
probably benign |
Het |
| Egf |
T |
C |
3: 129,496,128 (GRCm39) |
E329G |
probably damaging |
Het |
| Eif3c |
A |
G |
7: 126,157,831 (GRCm39) |
V337A |
probably benign |
Het |
| Eif3f |
G |
T |
7: 108,533,881 (GRCm39) |
|
probably benign |
Het |
| Eif3f |
C |
T |
7: 108,533,882 (GRCm39) |
|
probably benign |
Het |
| Evc |
T |
A |
5: 37,483,740 (GRCm39) |
I187F |
probably benign |
Het |
| Fam117a |
T |
G |
11: 95,254,815 (GRCm39) |
|
probably benign |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,323 (GRCm39) |
V285E |
probably damaging |
Het |
| Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
| Itgam |
A |
T |
7: 127,675,281 (GRCm39) |
M169L |
probably damaging |
Het |
| Kcnn3 |
G |
A |
3: 89,570,029 (GRCm39) |
G614D |
possibly damaging |
Het |
| Kcnn3 |
A |
G |
3: 89,428,281 (GRCm39) |
N169S |
possibly damaging |
Het |
| Mn1 |
A |
T |
5: 111,569,717 (GRCm39) |
K1229M |
probably damaging |
Het |
| Ms4a19 |
A |
G |
19: 11,118,897 (GRCm39) |
*71Q |
probably null |
Het |
| Nckap5 |
A |
G |
1: 125,955,553 (GRCm39) |
M401T |
probably damaging |
Het |
| Or1af1 |
T |
C |
2: 37,110,112 (GRCm39) |
S204P |
probably damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,964 (GRCm39) |
N52D |
possibly damaging |
Het |
| Or8d4 |
T |
G |
9: 40,038,561 (GRCm39) |
E232A |
probably benign |
Het |
| Pttg1ip2 |
G |
A |
5: 5,502,039 (GRCm39) |
Q138* |
probably null |
Het |
| Sim2 |
G |
A |
16: 93,898,047 (GRCm39) |
V94M |
probably damaging |
Het |
| Slc46a3 |
G |
A |
5: 147,822,822 (GRCm39) |
T340M |
probably benign |
Het |
| Ssc4d |
A |
G |
5: 135,994,923 (GRCm39) |
|
probably benign |
Het |
| Trav12-1 |
A |
G |
14: 53,775,916 (GRCm39) |
D22G |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,422 (GRCm39) |
D55E |
possibly damaging |
Het |
| Trps1 |
G |
A |
15: 50,524,273 (GRCm39) |
T969M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,719,894 (GRCm39) |
|
probably benign |
Het |
| Ubqln4 |
A |
G |
3: 88,470,458 (GRCm39) |
N310S |
probably benign |
Het |
| Vapa |
T |
C |
17: 65,889,756 (GRCm39) |
|
probably benign |
Het |
| Vmn1r65 |
T |
C |
7: 6,011,893 (GRCm39) |
T114A |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,875,332 (GRCm39) |
E1725G |
probably damaging |
Het |
| Vps53 |
A |
G |
11: 76,027,143 (GRCm39) |
|
probably benign |
Het |
| Xkr9 |
T |
C |
1: 13,742,799 (GRCm39) |
L28P |
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 |
|
IGL02410:Hps4
|
APN |
5 |
112,518,093 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
2015-12-18 |
Incidental Mutation