Incidental Mutation 'R0245:Hps3'
| ID |
36147 |
| 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 |
038483-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R0245 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
20050109-20089478 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 20066960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 535
(C535*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003714]
[ENSMUST00000012580]
[ENSMUST00000108321]
|
| AlphaFold |
Q91VB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003714
|
| SMART Domains |
Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu-oxidase_3
|
90 |
203 |
5.1e-8 |
PFAM |
|
Pfam:Cu-oxidase
|
220 |
357 |
9.6e-11 |
PFAM |
|
Pfam:Cu-oxidase_2
|
280 |
357 |
1.1e-7 |
PFAM |
|
Pfam:Cu-oxidase_3
|
444 |
556 |
1.4e-7 |
PFAM |
|
Blast:FA58C
|
598 |
673 |
3e-6 |
BLAST |
|
Pfam:Cu-oxidase_3
|
789 |
897 |
2.3e-9 |
PFAM |
|
Pfam:Cu-oxidase_2
|
927 |
1054 |
8.3e-18 |
PFAM |
|
low complexity region
|
1067 |
1078 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000012580
AA Change: C667*
|
| SMART Domains |
Protein: ENSMUSP00000012580
Gene: ENSMUSG00000027615
AA Change: C667*
| 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 null
Transcript: ENSMUST00000108321
AA Change: C535*
|
| SMART Domains |
Protein: ENSMUSP00000103957
Gene: ENSMUSG00000027615
AA Change: C535*
| 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: ENSMUST00000139446
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155121
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
99% (73/74) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
G |
8: 125,378,168 (GRCm39) |
|
probably benign |
Het |
| Actmap |
T |
A |
7: 26,900,028 (GRCm39) |
C98S |
possibly damaging |
Het |
| Adgrg6 |
T |
A |
10: 14,333,810 (GRCm39) |
|
probably benign |
Het |
| Adra2a |
G |
C |
19: 54,035,840 (GRCm39) |
V399L |
probably damaging |
Het |
| Arpc1b |
A |
G |
5: 145,063,670 (GRCm39) |
D306G |
probably damaging |
Het |
| Asic3 |
C |
A |
5: 24,618,836 (GRCm39) |
R43S |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,712,795 (GRCm39) |
D615G |
probably damaging |
Het |
| Btbd2 |
A |
T |
10: 80,483,640 (GRCm39) |
Y178N |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,581,415 (GRCm39) |
N1647D |
probably benign |
Het |
| Cacna2d4 |
A |
T |
6: 119,285,682 (GRCm39) |
D803V |
probably damaging |
Het |
| Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
| Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
| Cmpk2 |
A |
T |
12: 26,519,517 (GRCm39) |
D56V |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,540,685 (GRCm39) |
Y2563C |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,943,586 (GRCm39) |
D552G |
possibly damaging |
Het |
| E2f7 |
C |
A |
10: 110,610,656 (GRCm39) |
S427* |
probably null |
Het |
| Eps8 |
T |
C |
6: 137,456,126 (GRCm39) |
D785G |
probably benign |
Het |
| Ereg |
G |
A |
5: 91,222,659 (GRCm39) |
C14Y |
possibly damaging |
Het |
| Fah |
A |
C |
7: 84,244,706 (GRCm39) |
H222Q |
probably benign |
Het |
| Fbxw16 |
T |
A |
9: 109,265,236 (GRCm39) |
S432C |
possibly damaging |
Het |
| Fdps |
A |
G |
3: 89,001,078 (GRCm39) |
S334P |
possibly damaging |
Het |
| Fgf7 |
A |
G |
2: 125,877,875 (GRCm39) |
K81E |
probably benign |
Het |
| Gfra1 |
T |
C |
19: 58,288,986 (GRCm39) |
N153S |
possibly damaging |
Het |
| Golga1 |
A |
G |
2: 38,925,271 (GRCm39) |
V351A |
probably benign |
Het |
| Got1 |
A |
T |
19: 43,492,946 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,746,457 (GRCm39) |
Y1271C |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,724,976 (GRCm39) |
I252T |
possibly damaging |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,094 (GRCm39) |
I298T |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,317,766 (GRCm39) |
I2081V |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,242,033 (GRCm39) |
F589S |
probably damaging |
Het |
| Itgb8 |
T |
A |
12: 119,154,290 (GRCm39) |
N249I |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,874,992 (GRCm39) |
E314G |
probably damaging |
Het |
| Kdm4a |
T |
C |
4: 118,032,886 (GRCm39) |
D60G |
probably benign |
Het |
| Kng2 |
A |
T |
16: 22,830,931 (GRCm39) |
|
probably benign |
Het |
| Marchf4 |
A |
T |
1: 72,573,940 (GRCm39) |
D119E |
probably benign |
Het |
| Mrpl34 |
T |
C |
8: 71,917,719 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
C |
T |
2: 155,233,131 (GRCm39) |
G2059D |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,400,856 (GRCm39) |
K660R |
probably damaging |
Het |
| Nr2c2ap |
T |
C |
8: 70,584,228 (GRCm39) |
V6A |
possibly damaging |
Het |
| Or10j3b |
T |
A |
1: 173,043,524 (GRCm39) |
I102N |
possibly damaging |
Het |
| Or4c29 |
C |
A |
2: 88,740,219 (GRCm39) |
D173Y |
possibly damaging |
Het |
| Or4k52 |
A |
G |
2: 111,610,680 (GRCm39) |
N5S |
probably damaging |
Het |
| Or5k14 |
A |
T |
16: 58,693,229 (GRCm39) |
Y95N |
probably benign |
Het |
| Or7g33 |
C |
A |
9: 19,448,408 (GRCm39) |
V273L |
probably benign |
Het |
| Oscar |
C |
T |
7: 3,614,573 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,610,624 (GRCm39) |
S1046G |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,844,284 (GRCm39) |
D5G |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,187,424 (GRCm39) |
H486R |
probably benign |
Het |
| Rnf111 |
C |
T |
9: 70,361,113 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,676,066 (GRCm39) |
Y309C |
probably damaging |
Het |
| Rnf19a |
A |
T |
15: 36,253,178 (GRCm39) |
I387N |
probably damaging |
Het |
| Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,940,713 (GRCm39) |
T494A |
probably benign |
Het |
| Serac1 |
G |
T |
17: 6,102,031 (GRCm39) |
D384E |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,623,432 (GRCm39) |
M40V |
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,448,206 (GRCm39) |
I416T |
probably benign |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Spata32 |
C |
T |
11: 103,099,921 (GRCm39) |
A195T |
probably damaging |
Het |
| Srrd |
A |
G |
5: 112,485,394 (GRCm39) |
|
probably benign |
Het |
| Srsf3-ps |
T |
A |
11: 98,516,067 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
| Taok3 |
G |
A |
5: 117,390,744 (GRCm39) |
|
probably benign |
Het |
| Tbxas1 |
G |
T |
6: 39,004,702 (GRCm39) |
R316S |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,114,752 (GRCm39) |
I116N |
possibly damaging |
Het |
| Tm7sf3 |
T |
C |
6: 146,520,107 (GRCm39) |
T260A |
possibly damaging |
Het |
| Top2a |
T |
C |
11: 98,900,922 (GRCm39) |
I556V |
probably benign |
Het |
| Uroc1 |
A |
G |
6: 90,321,179 (GRCm39) |
M252V |
probably damaging |
Het |
| Xpo4 |
G |
T |
14: 57,867,697 (GRCm39) |
H183Q |
probably damaging |
Het |
| Zcchc17 |
T |
A |
4: 130,230,947 (GRCm39) |
I81L |
probably benign |
Het |
| Zfp455 |
A |
T |
13: 67,355,899 (GRCm39) |
Y389F |
probably 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 |
|
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 |
|
R4912:Hps3
|
UTSW |
3 |
20,068,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGTTGTGCTTTCAGTGAACACCTACTC -3'
(R):5'- AGACAGATCATGTCAGCTCAGTTTTGG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation