Incidental Mutation 'R6981:Hps3'
| ID |
542658 |
| 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 |
045089-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
20050109-20089478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20076984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 393
(T393S)
|
| 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: T393S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000012580
Gene: ENSMUSG00000027615
AA Change: T393S
| 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: T261S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103957
Gene: ENSMUSG00000027615
AA Change: T261S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
| Validation Efficiency |
99% (68/69) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
A |
11: 58,184,544 (GRCm39) |
|
probably benign |
Het |
| 5031439G07Rik |
A |
C |
15: 84,833,798 (GRCm39) |
Y419* |
probably null |
Het |
| Abca2 |
T |
A |
2: 25,334,151 (GRCm39) |
F1809L |
probably damaging |
Het |
| Ache |
C |
T |
5: 137,289,940 (GRCm39) |
T423I |
probably benign |
Het |
| Acvrl1 |
A |
G |
15: 101,036,226 (GRCm39) |
T395A |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,127,741 (GRCm39) |
I145T |
probably damaging |
Het |
| Arhgef4 |
A |
C |
1: 34,761,533 (GRCm39) |
Q263P |
unknown |
Het |
| Asgr2 |
C |
T |
11: 69,987,636 (GRCm39) |
L45F |
probably damaging |
Het |
| Baiap2l1 |
T |
A |
5: 144,222,389 (GRCm39) |
Y122F |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Car8 |
A |
T |
4: 8,185,650 (GRCm39) |
|
probably null |
Het |
| Carns1 |
T |
C |
19: 4,220,081 (GRCm39) |
T385A |
probably benign |
Het |
| Ccdc47 |
T |
C |
11: 106,093,563 (GRCm39) |
T41A |
probably benign |
Het |
| Ccne1 |
A |
T |
7: 37,797,998 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
C |
T |
2: 179,439,297 (GRCm39) |
T148I |
probably benign |
Het |
| Cep85 |
C |
T |
4: 133,879,572 (GRCm39) |
R392Q |
probably damaging |
Het |
| Ces1h |
T |
C |
8: 94,080,123 (GRCm39) |
T464A |
unknown |
Het |
| Cfl1 |
T |
A |
19: 5,542,644 (GRCm39) |
S41R |
possibly damaging |
Het |
| Crnn |
T |
C |
3: 93,055,442 (GRCm39) |
V76A |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,794,385 (GRCm39) |
T707A |
probably benign |
Het |
| Dgkh |
A |
T |
14: 78,865,182 (GRCm39) |
C53* |
probably null |
Het |
| Dhx34 |
G |
T |
7: 15,949,255 (GRCm39) |
A391E |
possibly damaging |
Het |
| Dlx1 |
C |
A |
2: 71,362,697 (GRCm39) |
N201K |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 72,998,161 (GRCm39) |
E4087G |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,756,846 (GRCm39) |
Y134C |
probably damaging |
Het |
| Duox2 |
A |
G |
2: 122,121,708 (GRCm39) |
V662A |
possibly damaging |
Het |
| Dusp12 |
A |
G |
1: 170,708,530 (GRCm39) |
F12L |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,995,237 (GRCm39) |
E548G |
probably benign |
Het |
| Foxj2 |
A |
G |
6: 122,819,798 (GRCm39) |
D562G |
probably benign |
Het |
| Foxj2 |
A |
G |
6: 122,805,403 (GRCm39) |
I92V |
probably damaging |
Het |
| Gm17728 |
A |
G |
17: 9,640,991 (GRCm39) |
R34G |
probably damaging |
Het |
| Gpc6 |
T |
C |
14: 117,861,960 (GRCm39) |
I292T |
probably damaging |
Het |
| Gpr15 |
T |
A |
16: 58,538,548 (GRCm39) |
K180N |
probably benign |
Het |
| Gtf2ird1 |
G |
T |
5: 134,412,776 (GRCm39) |
|
probably benign |
Het |
| H2ac12 |
A |
G |
13: 22,219,719 (GRCm39) |
S2P |
probably benign |
Het |
| Hspa1a |
A |
T |
17: 35,189,267 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,257,704 (GRCm39) |
E2378G |
possibly damaging |
Het |
| Ighv1-18 |
A |
G |
12: 114,646,298 (GRCm39) |
L102P |
probably damaging |
Het |
| Itga5 |
T |
A |
15: 103,258,653 (GRCm39) |
N814I |
probably benign |
Het |
| Kcnb2 |
T |
C |
1: 15,780,480 (GRCm39) |
S451P |
probably damaging |
Het |
| Klhl32 |
T |
G |
4: 24,709,030 (GRCm39) |
I112L |
probably damaging |
Het |
| Knstrn |
T |
G |
2: 118,664,575 (GRCm39) |
I47R |
possibly damaging |
Het |
| Med23 |
T |
A |
10: 24,771,722 (GRCm39) |
S581T |
possibly damaging |
Het |
| Mgat5 |
C |
T |
1: 127,318,588 (GRCm39) |
T361I |
probably damaging |
Het |
| Nipal3 |
A |
G |
4: 135,206,858 (GRCm39) |
V112A |
probably damaging |
Het |
| Or10a5 |
T |
A |
7: 106,635,956 (GRCm39) |
V198D |
possibly damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,243 (GRCm39) |
E24G |
probably benign |
Het |
| Or4k41 |
T |
C |
2: 111,279,697 (GRCm39) |
F71L |
probably benign |
Het |
| Or5g27 |
A |
G |
2: 85,409,825 (GRCm39) |
M81V |
probably benign |
Het |
| Paxip1 |
G |
A |
5: 27,970,766 (GRCm39) |
Q528* |
probably null |
Het |
| Proser2 |
T |
C |
2: 6,118,801 (GRCm39) |
D14G |
probably damaging |
Het |
| Rp1 |
T |
G |
1: 4,415,878 (GRCm39) |
I1745L |
probably benign |
Het |
| Rxfp2 |
G |
T |
5: 149,972,313 (GRCm39) |
|
probably null |
Het |
| Slc45a1 |
T |
C |
4: 150,723,051 (GRCm39) |
S278G |
possibly damaging |
Het |
| Smurf1 |
A |
G |
5: 144,823,179 (GRCm39) |
I455T |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,407,557 (GRCm39) |
L3188P |
probably damaging |
Het |
| Tcaf3 |
G |
T |
6: 42,574,059 (GRCm39) |
A51D |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,502,768 (GRCm39) |
N12S |
possibly damaging |
Het |
| Tmem17 |
T |
A |
11: 22,468,508 (GRCm39) |
I149N |
possibly damaging |
Het |
| Tmem171 |
A |
G |
13: 98,828,976 (GRCm39) |
V58A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,691,521 (GRCm39) |
|
probably benign |
Het |
| Ubqln5 |
A |
G |
7: 103,777,808 (GRCm39) |
S339P |
probably benign |
Het |
| Vmn1r16 |
T |
A |
6: 57,300,473 (GRCm39) |
I50L |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,739 (GRCm39) |
Y177F |
probably benign |
Het |
| Zfp28 |
C |
A |
7: 6,397,692 (GRCm39) |
T709K |
probably damaging |
Het |
| Zfp958 |
A |
G |
8: 4,676,170 (GRCm39) |
N46S |
probably benign |
Het |
| Zyx |
T |
A |
6: 42,327,291 (GRCm39) |
V30E |
unknown |
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 |
|
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 |
|
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'- GGGCCTTTCGTCTTTGCAA -3'
(R):5'- ACTCTTTGGTCACGGTCAGT -3'
Sequencing Primer
(F):5'- CGTCTTTGCAAAATTCAGGCC -3'
(R):5'- GGGATTCAGCAACATTGTCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation