Incidental Mutation 'R4988:Hps4'
ID |
385946 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
042582-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.292)
|
Stock # |
R4988 (G1)
|
Quality Score |
156 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
112490949-112526280 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
C to T
at 112526019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107978
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035279]
[ENSMUST00000112359]
|
AlphaFold |
Q99KG7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035279
|
SMART Domains |
Protein: ENSMUSP00000047920 Gene: ENSMUSG00000042328
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
|
SMART Domains |
Protein: ENSMUSP00000107978 Gene: ENSMUSG00000042328
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
Validation Efficiency |
100% (58/58) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
G |
A |
1: 130,670,447 (GRCm39) |
G223E |
probably damaging |
Het |
Abcb11 |
T |
C |
2: 69,154,236 (GRCm39) |
N110S |
probably benign |
Het |
Acaca |
T |
A |
11: 84,154,121 (GRCm39) |
H947Q |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,380,276 (GRCm39) |
M2202T |
probably damaging |
Het |
Amy2b |
T |
C |
3: 113,058,550 (GRCm39) |
|
noncoding transcript |
Het |
Arhgef4 |
A |
T |
1: 34,762,535 (GRCm39) |
H597L |
unknown |
Het |
Asgr2 |
A |
G |
11: 69,988,665 (GRCm39) |
I119M |
probably benign |
Het |
Casc3 |
T |
G |
11: 98,712,700 (GRCm39) |
|
probably null |
Het |
Cbr1b |
A |
G |
16: 93,426,884 (GRCm39) |
T162A |
probably benign |
Het |
Ccdc7b |
T |
A |
8: 129,872,013 (GRCm39) |
M239K |
possibly damaging |
Het |
Cdc27 |
A |
G |
11: 104,416,950 (GRCm39) |
S334P |
possibly damaging |
Het |
Ces1c |
T |
C |
8: 93,827,336 (GRCm39) |
E476G |
probably damaging |
Het |
Clec3a |
T |
A |
8: 115,144,827 (GRCm39) |
M1K |
probably null |
Het |
Col9a1 |
T |
C |
1: 24,224,273 (GRCm39) |
S152P |
unknown |
Het |
Cpd |
A |
G |
11: 76,705,656 (GRCm39) |
S359P |
probably damaging |
Het |
Ctnnal1 |
A |
T |
4: 56,847,854 (GRCm39) |
L95* |
probably null |
Het |
Dhx57 |
T |
C |
17: 80,558,827 (GRCm39) |
D1044G |
probably damaging |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Efcab5 |
A |
G |
11: 77,028,078 (GRCm39) |
S418P |
probably damaging |
Het |
Elp5 |
T |
C |
11: 69,870,668 (GRCm39) |
D59G |
probably benign |
Het |
Fam210a |
G |
A |
18: 68,409,218 (GRCm39) |
R31C |
probably benign |
Het |
Farp1 |
A |
G |
14: 121,513,019 (GRCm39) |
T792A |
probably damaging |
Het |
Fmc1 |
A |
T |
6: 38,511,917 (GRCm39) |
Y37F |
probably benign |
Het |
Gm10717 |
T |
A |
9: 3,026,368 (GRCm39) |
L72M |
probably benign |
Het |
Gm1758 |
A |
T |
16: 14,320,067 (GRCm39) |
|
noncoding transcript |
Het |
Gm4553 |
G |
A |
7: 141,718,729 (GRCm39) |
|
probably benign |
Het |
Gpr156 |
A |
G |
16: 37,768,577 (GRCm39) |
T33A |
possibly damaging |
Het |
Hhat |
A |
T |
1: 192,339,602 (GRCm39) |
|
probably benign |
Het |
Hint2 |
T |
C |
4: 43,654,953 (GRCm39) |
I59V |
possibly damaging |
Het |
Hsd17b8 |
A |
G |
17: 34,246,262 (GRCm39) |
F137S |
probably damaging |
Het |
Klrc2 |
A |
T |
6: 129,633,426 (GRCm39) |
C192S |
probably benign |
Het |
Map1a |
C |
T |
2: 121,133,531 (GRCm39) |
T1211I |
probably benign |
Het |
Mtus1 |
T |
C |
8: 41,537,578 (GRCm39) |
N46S |
probably benign |
Het |
Myo18a |
T |
C |
11: 77,736,347 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
C |
12: 13,458,266 (GRCm39) |
S1258P |
probably benign |
Het |
Ndst1 |
C |
T |
18: 60,836,005 (GRCm39) |
G426D |
probably damaging |
Het |
Nepro |
A |
G |
16: 44,554,905 (GRCm39) |
E327G |
possibly damaging |
Het |
Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
Or10s1 |
G |
A |
9: 39,985,961 (GRCm39) |
M123I |
probably damaging |
Het |
Or1j18 |
T |
C |
2: 36,624,996 (GRCm39) |
I221T |
possibly damaging |
Het |
Or2m13 |
A |
T |
16: 19,225,860 (GRCm39) |
M302K |
probably benign |
Het |
Or6c66 |
T |
C |
10: 129,461,930 (GRCm39) |
|
probably null |
Het |
Pcdhb15 |
G |
A |
18: 37,608,855 (GRCm39) |
A696T |
probably damaging |
Het |
Polm |
C |
A |
11: 5,787,618 (GRCm39) |
R45L |
probably damaging |
Het |
Pon3 |
G |
A |
6: 5,254,582 (GRCm39) |
R27* |
probably null |
Het |
Proser1 |
T |
C |
3: 53,387,046 (GRCm39) |
I845T |
probably damaging |
Het |
Rassf8 |
A |
G |
6: 145,762,870 (GRCm39) |
N406D |
possibly damaging |
Het |
Skint10 |
A |
T |
4: 112,586,069 (GRCm39) |
C182* |
probably null |
Het |
Slc6a19 |
C |
T |
13: 73,833,959 (GRCm39) |
W366* |
probably null |
Het |
St7 |
T |
C |
6: 17,934,225 (GRCm39) |
F470L |
probably damaging |
Het |
St8sia4 |
T |
A |
1: 95,519,522 (GRCm39) |
Y322F |
possibly damaging |
Het |
Trav8n-2 |
A |
T |
14: 53,975,814 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
A |
T |
14: 79,435,723 (GRCm39) |
H1811L |
probably benign |
Het |
Zfp14 |
G |
A |
7: 29,737,482 (GRCm39) |
T501I |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGTCAGAGCCATGGCAGG -3'
(R):5'- TCAAGTAAACGGTCAGCAGTG -3'
Sequencing Primer
(F):5'- CCATGGCAGGCATTAGGG -3'
(R):5'- ACGGTCAGCAGTGAATCCTG -3'
|
Posted On |
2016-05-10 |