Incidental Mutation 'R4912:Hps3'
ID |
379602 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hps3
|
Ensembl Gene |
ENSMUSG00000027615 |
Gene Name |
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
Synonyms |
Hermansky-Pudlak syndrome 3 |
MMRRC Submission |
042514-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R4912 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
20050109-20089478 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 20068337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 572
(L572F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000012580
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012580]
[ENSMUST00000108321]
|
AlphaFold |
Q91VB4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000012580
AA Change: L572F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000012580 Gene: ENSMUSG00000027615 AA Change: L572F
Domain | Start | End | E-Value | Type |
Pfam:HPS3_N
|
3 |
212 |
2.8e-74 |
PFAM |
Pfam:HPS3_Mid
|
255 |
640 |
1.3e-167 |
PFAM |
Pfam:HPS3_C
|
649 |
1000 |
1.8e-175 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108321
AA Change: L440F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103957 Gene: ENSMUSG00000027615 AA Change: L440F
Domain | Start | End | E-Value | Type |
Pfam:HPS3_N
|
3 |
87 |
5.6e-25 |
PFAM |
Pfam:HPS3_Mid
|
121 |
508 |
4.2e-161 |
PFAM |
Pfam:HPS3_C
|
517 |
870 |
9.2e-199 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124808
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126644
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137408
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151752
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155121
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139446
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.9%
|
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 containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015] PHENOTYPE: Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
T |
C |
3: 124,213,505 (GRCm39) |
D52G |
possibly damaging |
Het |
Acaa1a |
C |
A |
9: 119,171,827 (GRCm39) |
R102S |
probably damaging |
Het |
Arhgef12 |
G |
A |
9: 42,904,361 (GRCm39) |
R706* |
probably null |
Het |
Best3 |
A |
G |
10: 116,844,886 (GRCm39) |
Y347C |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,872,900 (GRCm39) |
D386E |
probably damaging |
Het |
C130050O18Rik |
A |
T |
5: 139,400,144 (GRCm39) |
T66S |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,760,858 (GRCm39) |
D2201V |
possibly damaging |
Het |
Csk |
A |
G |
9: 57,538,063 (GRCm39) |
Y48H |
probably damaging |
Het |
Dffb |
T |
A |
4: 154,049,864 (GRCm39) |
|
probably benign |
Het |
Diaph3 |
A |
C |
14: 87,244,635 (GRCm39) |
C217W |
probably damaging |
Het |
Eml2 |
T |
A |
7: 18,927,924 (GRCm39) |
|
probably null |
Het |
Ercc5 |
T |
C |
1: 44,196,217 (GRCm39) |
I70T |
probably damaging |
Het |
Fryl |
AGTGTGT |
AGTGT |
5: 73,226,125 (GRCm39) |
|
probably null |
Het |
Fsd1 |
C |
T |
17: 56,298,241 (GRCm39) |
P189S |
possibly damaging |
Het |
Gm42669 |
A |
G |
5: 107,656,683 (GRCm39) |
K982R |
probably damaging |
Het |
Gm5414 |
A |
G |
15: 101,533,445 (GRCm39) |
I373T |
possibly damaging |
Het |
Gm7356 |
A |
G |
17: 14,221,498 (GRCm39) |
L177P |
possibly damaging |
Het |
Grip1 |
G |
A |
10: 119,767,153 (GRCm39) |
D93N |
probably damaging |
Het |
Hbq1b |
T |
A |
11: 32,237,014 (GRCm39) |
M1K |
probably null |
Het |
Ighj2 |
T |
A |
12: 113,393,100 (GRCm39) |
|
probably benign |
Het |
Kcna3 |
T |
C |
3: 106,945,207 (GRCm39) |
M490T |
probably benign |
Het |
Krt76 |
T |
A |
15: 101,796,597 (GRCm39) |
K404* |
probably null |
Het |
Lgr4 |
A |
T |
2: 109,836,847 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
G |
T |
7: 27,005,541 (GRCm39) |
C1533* |
probably null |
Het |
Mapre2 |
A |
G |
18: 23,965,990 (GRCm39) |
N25S |
probably damaging |
Het |
Mark3 |
T |
A |
12: 111,559,087 (GRCm39) |
I43K |
probably benign |
Het |
Mon1b |
T |
A |
8: 114,368,585 (GRCm39) |
Y495* |
probably null |
Het |
Mrfap1 |
A |
G |
5: 36,954,089 (GRCm39) |
|
probably benign |
Het |
Mxra8 |
A |
G |
4: 155,925,361 (GRCm39) |
|
probably null |
Het |
Myoz1 |
A |
T |
14: 20,699,606 (GRCm39) |
L244Q |
probably damaging |
Het |
Ndfip2 |
C |
T |
14: 105,496,120 (GRCm39) |
R5W |
probably benign |
Het |
Nek11 |
T |
C |
9: 105,164,857 (GRCm39) |
D423G |
probably benign |
Het |
Nin |
A |
T |
12: 70,090,837 (GRCm39) |
D859E |
probably damaging |
Het |
Nup210 |
G |
A |
6: 90,994,511 (GRCm39) |
A1729V |
probably benign |
Het |
Olfm3 |
A |
G |
3: 114,895,589 (GRCm39) |
E157G |
probably damaging |
Het |
Or1e1f |
A |
T |
11: 73,856,166 (GRCm39) |
H244L |
probably damaging |
Het |
Prickle1 |
A |
G |
15: 93,398,429 (GRCm39) |
S800P |
probably benign |
Het |
Reln |
A |
G |
5: 22,130,191 (GRCm39) |
S2707P |
probably benign |
Het |
Resf1 |
C |
G |
6: 149,230,887 (GRCm39) |
S1311C |
probably damaging |
Het |
Rexo4 |
G |
A |
2: 26,852,404 (GRCm39) |
T200M |
possibly damaging |
Het |
Saxo2 |
T |
A |
7: 82,283,743 (GRCm39) |
I372L |
probably benign |
Het |
Scgb2b2 |
T |
A |
7: 31,003,056 (GRCm39) |
D50E |
probably benign |
Het |
Sipa1l1 |
T |
C |
12: 82,443,452 (GRCm39) |
L914P |
possibly damaging |
Het |
Slf1 |
T |
A |
13: 77,199,413 (GRCm39) |
D656V |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,300,171 (GRCm39) |
D1192G |
probably damaging |
Het |
Tdrd6 |
A |
C |
17: 43,935,218 (GRCm39) |
D1943E |
probably benign |
Het |
Tmem163 |
G |
A |
1: 127,419,362 (GRCm39) |
T281M |
probably damaging |
Het |
Tmod3 |
A |
G |
9: 75,439,730 (GRCm39) |
V35A |
probably damaging |
Het |
Ttc39c |
A |
T |
18: 12,867,951 (GRCm39) |
Q448L |
probably benign |
Het |
Ulk1 |
A |
T |
5: 110,935,455 (GRCm39) |
S937T |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,481,304 (GRCm39) |
D1711V |
probably damaging |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Utp20 |
G |
T |
10: 88,607,822 (GRCm39) |
Q1596K |
probably benign |
Het |
Vmn1r28 |
A |
T |
6: 58,242,525 (GRCm39) |
I123F |
possibly damaging |
Het |
Vmn1r73 |
T |
A |
7: 11,490,596 (GRCm39) |
V138E |
probably damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,822,363 (GRCm39) |
D347G |
probably damaging |
Het |
Vmn2r3 |
T |
G |
3: 64,166,618 (GRCm39) |
T838P |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
Wdr17 |
T |
C |
8: 55,082,896 (GRCm39) |
D1268G |
probably damaging |
Het |
Zfp108 |
T |
A |
7: 23,960,739 (GRCm39) |
H443Q |
probably damaging |
Het |
Zfp608 |
A |
G |
18: 55,079,663 (GRCm39) |
V374A |
probably damaging |
Het |
Zfp831 |
G |
T |
2: 174,486,417 (GRCm39) |
G364V |
probably damaging |
Het |
Zfp94 |
A |
G |
7: 24,003,166 (GRCm39) |
V86A |
probably benign |
Het |
Zkscan16 |
A |
C |
4: 58,946,506 (GRCm39) |
N127T |
possibly damaging |
Het |
|
Other mutations in Hps3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00545:Hps3
|
APN |
3 |
20,073,971 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00846:Hps3
|
APN |
3 |
20,079,956 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01320:Hps3
|
APN |
3 |
20,084,633 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01364:Hps3
|
APN |
3 |
20,057,469 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL01751:Hps3
|
APN |
3 |
20,065,130 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01843:Hps3
|
APN |
3 |
20,083,165 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02294:Hps3
|
APN |
3 |
20,068,212 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02581:Hps3
|
APN |
3 |
20,057,385 (GRCm39) |
intron |
probably benign |
|
Blue
|
UTSW |
3 |
20,084,960 (GRCm39) |
missense |
probably damaging |
1.00 |
earl_grey
|
UTSW |
3 |
20,017,173 (GRCm38) |
intron |
probably benign |
|
gandalf
|
UTSW |
3 |
20,066,960 (GRCm39) |
nonsense |
probably null |
|
pam_gray
|
UTSW |
3 |
20,017,173 (GRCm38) |
intron |
probably benign |
|
R0107:Hps3
|
UTSW |
3 |
20,084,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R0245:Hps3
|
UTSW |
3 |
20,066,960 (GRCm39) |
nonsense |
probably null |
|
R0421:Hps3
|
UTSW |
3 |
20,083,480 (GRCm39) |
missense |
probably benign |
0.00 |
R0524:Hps3
|
UTSW |
3 |
20,066,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R0763:Hps3
|
UTSW |
3 |
20,057,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Hps3
|
UTSW |
3 |
20,066,859 (GRCm39) |
critical splice donor site |
probably null |
|
R1864:Hps3
|
UTSW |
3 |
20,074,123 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2029:Hps3
|
UTSW |
3 |
20,084,691 (GRCm39) |
missense |
probably benign |
0.01 |
R2101:Hps3
|
UTSW |
3 |
20,066,947 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2221:Hps3
|
UTSW |
3 |
20,056,527 (GRCm39) |
missense |
probably benign |
|
R2268:Hps3
|
UTSW |
3 |
20,067,099 (GRCm39) |
splice site |
probably benign |
|
R2520:Hps3
|
UTSW |
3 |
20,083,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R3809:Hps3
|
UTSW |
3 |
20,072,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R3888:Hps3
|
UTSW |
3 |
20,057,387 (GRCm39) |
critical splice donor site |
probably null |
|
R3942:Hps3
|
UTSW |
3 |
20,051,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R4022:Hps3
|
UTSW |
3 |
20,089,425 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4156:Hps3
|
UTSW |
3 |
20,083,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Hps3
|
UTSW |
3 |
20,084,574 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4823:Hps3
|
UTSW |
3 |
20,066,890 (GRCm39) |
missense |
probably benign |
0.03 |
R5307:Hps3
|
UTSW |
3 |
20,066,865 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5859:Hps3
|
UTSW |
3 |
20,063,034 (GRCm39) |
missense |
probably benign |
0.02 |
R6140:Hps3
|
UTSW |
3 |
20,051,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R6183:Hps3
|
UTSW |
3 |
20,063,032 (GRCm39) |
missense |
probably benign |
0.04 |
R6971:Hps3
|
UTSW |
3 |
20,065,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R6981:Hps3
|
UTSW |
3 |
20,076,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R7120:Hps3
|
UTSW |
3 |
20,065,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R7146:Hps3
|
UTSW |
3 |
20,063,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R7223:Hps3
|
UTSW |
3 |
20,084,583 (GRCm39) |
missense |
probably benign |
0.05 |
R7448:Hps3
|
UTSW |
3 |
20,089,329 (GRCm39) |
missense |
probably damaging |
0.99 |
R7452:Hps3
|
UTSW |
3 |
20,065,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R7560:Hps3
|
UTSW |
3 |
20,084,616 (GRCm39) |
missense |
probably benign |
0.29 |
R7659:Hps3
|
UTSW |
3 |
20,076,978 (GRCm39) |
nonsense |
probably null |
|
R7769:Hps3
|
UTSW |
3 |
20,072,972 (GRCm39) |
splice site |
probably null |
|
R8050:Hps3
|
UTSW |
3 |
20,057,492 (GRCm39) |
missense |
probably benign |
|
R8242:Hps3
|
UTSW |
3 |
20,068,290 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8802:Hps3
|
UTSW |
3 |
20,074,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R8822:Hps3
|
UTSW |
3 |
20,057,391 (GRCm39) |
missense |
probably benign |
|
R8945:Hps3
|
UTSW |
3 |
20,068,224 (GRCm39) |
missense |
probably damaging |
0.99 |
R9111:Hps3
|
UTSW |
3 |
20,084,575 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9131:Hps3
|
UTSW |
3 |
20,083,350 (GRCm39) |
missense |
probably damaging |
0.98 |
R9645:Hps3
|
UTSW |
3 |
20,084,831 (GRCm39) |
missense |
probably benign |
0.01 |
R9728:Hps3
|
UTSW |
3 |
20,065,128 (GRCm39) |
missense |
probably benign |
0.06 |
X0021:Hps3
|
UTSW |
3 |
20,084,913 (GRCm39) |
missense |
probably benign |
0.14 |
X0066:Hps3
|
UTSW |
3 |
20,070,152 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Hps3
|
UTSW |
3 |
20,063,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACAATAGCCTCCATGCTG -3'
(R):5'- ATTGTCGATGACTGAGATGAGG -3'
Sequencing Primer
(F):5'- TAGCCTCCATGCTGAATACTAAGG -3'
(R):5'- ATGCTCAGGAAAAATGCTACTG -3'
|
Posted On |
2016-04-15 |