Incidental Mutation 'R9645:Hps3'
| ID |
726195 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R9645 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
20050109-20089478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20084831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 119
(E119G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012580]
[ENSMUST00000108321]
|
| AlphaFold |
Q91VB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012580
AA Change: E119G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000012580
Gene: ENSMUSG00000027615
AA Change: E119G
| 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 benign
Transcript: ENSMUST00000108321
|
| SMART Domains |
Protein: ENSMUSP00000103957
Gene: ENSMUSG00000027615
| 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: 99.7%
- 20x: 99.0%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,644,793 (GRCm39) |
V226A |
probably benign |
Het |
| Acan |
G |
T |
7: 78,749,653 (GRCm39) |
V1475F |
probably benign |
Het |
| Acin1 |
T |
A |
14: 54,901,913 (GRCm39) |
R626S |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,249,121 (GRCm39) |
K662R |
probably damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
| Ano9 |
T |
G |
7: 140,687,388 (GRCm39) |
N309T |
probably benign |
Het |
| Ap3d1 |
G |
A |
10: 80,545,062 (GRCm39) |
S1092L |
probably benign |
Het |
| B4galt7 |
C |
T |
13: 55,756,556 (GRCm39) |
H257Y |
probably damaging |
Het |
| BC051665 |
G |
T |
13: 60,932,545 (GRCm39) |
Q47K |
possibly damaging |
Het |
| Brip1 |
A |
G |
11: 85,952,512 (GRCm39) |
F1090L |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,494,543 (GRCm39) |
V1612A |
probably benign |
Het |
| Ccar1 |
A |
T |
10: 62,602,369 (GRCm39) |
D434E |
probably benign |
Het |
| Ccdc15 |
T |
C |
9: 37,227,083 (GRCm39) |
D297G |
probably benign |
Het |
| Celsr3 |
C |
A |
9: 108,704,691 (GRCm39) |
Y391* |
probably null |
Het |
| Cfap52 |
A |
G |
11: 67,837,179 (GRCm39) |
I194T |
possibly damaging |
Het |
| Ctif |
T |
C |
18: 75,757,352 (GRCm39) |
E67G |
probably benign |
Het |
| Cxcr6 |
T |
C |
9: 123,639,151 (GRCm39) |
F58L |
possibly damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,869,593 (GRCm39) |
E142G |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,115,750 (GRCm39) |
R1549S |
possibly damaging |
Het |
| Duxf3 |
A |
T |
10: 58,066,803 (GRCm39) |
H75Q |
probably benign |
Het |
| Ehbp1 |
A |
T |
11: 22,051,052 (GRCm39) |
I500N |
probably damaging |
Het |
| F13a1 |
A |
T |
13: 37,082,154 (GRCm39) |
S517T |
probably benign |
Het |
| Fbln7 |
C |
T |
2: 128,719,316 (GRCm39) |
R38C |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,667,629 (GRCm39) |
N788S |
probably benign |
Het |
| Foxc1 |
A |
T |
13: 31,991,882 (GRCm39) |
E231V |
probably damaging |
Het |
| Gal3st2b |
T |
C |
1: 93,866,328 (GRCm39) |
S10P |
probably damaging |
Het |
| Gm6899 |
G |
A |
11: 26,543,592 (GRCm39) |
C53Y |
unknown |
Het |
| Impg2 |
A |
G |
16: 56,038,767 (GRCm39) |
E135G |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 34,032,583 (GRCm39) |
T1155M |
probably benign |
Het |
| Kcna6 |
G |
A |
6: 126,716,022 (GRCm39) |
A289V |
probably benign |
Het |
| Kcnh5 |
T |
C |
12: 75,134,191 (GRCm39) |
M453V |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,131,320 (GRCm39) |
V75A |
possibly damaging |
Het |
| Lmtk3 |
A |
T |
7: 45,450,431 (GRCm39) |
T1432S |
unknown |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Ltbp3 |
C |
G |
19: 5,802,099 (GRCm39) |
N758K |
probably damaging |
Het |
| Map6d1 |
T |
A |
16: 20,055,377 (GRCm39) |
H153L |
possibly damaging |
Het |
| Mefv |
A |
G |
16: 3,528,782 (GRCm39) |
L583P |
probably damaging |
Het |
| Mrps28 |
T |
C |
3: 8,867,389 (GRCm39) |
T160A |
probably damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,869,390 (GRCm39) |
K1082E |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,217,783 (GRCm39) |
T2297A |
possibly damaging |
Het |
| Mx1 |
G |
T |
16: 97,253,409 (GRCm39) |
D338E |
probably benign |
Het |
| Myom1 |
G |
A |
17: 71,399,204 (GRCm39) |
R1120H |
probably benign |
Het |
| Nif3l1 |
T |
C |
1: 58,487,074 (GRCm39) |
F87L |
probably benign |
Het |
| Or1e35 |
T |
A |
11: 73,797,713 (GRCm39) |
M202L |
probably benign |
Het |
| Or4p22 |
T |
C |
2: 88,317,373 (GRCm39) |
V99A |
possibly damaging |
Het |
| Pex10 |
T |
A |
4: 155,153,264 (GRCm39) |
L111Q |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,154,130 (GRCm39) |
|
probably null |
Het |
| Pigp |
A |
T |
16: 94,166,278 (GRCm39) |
Y143* |
probably null |
Het |
| Pou2af2 |
A |
G |
9: 51,229,579 (GRCm39) |
|
probably null |
Het |
| Prrc2a |
A |
G |
17: 35,381,176 (GRCm39) |
|
probably null |
Het |
| Psd |
GCC |
GC |
19: 46,301,841 (GRCm39) |
|
probably null |
Het |
| Pum3 |
A |
G |
19: 27,403,412 (GRCm39) |
S30P |
probably benign |
Het |
| Rab12 |
A |
G |
17: 66,826,421 (GRCm39) |
S97P |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,220,437 (GRCm39) |
E482G |
possibly damaging |
Het |
| Ros1 |
A |
G |
10: 51,948,148 (GRCm39) |
|
probably null |
Het |
| Scp2 |
A |
T |
4: 107,948,519 (GRCm39) |
Y197N |
probably benign |
Het |
| Serpinb10 |
T |
C |
1: 107,474,488 (GRCm39) |
F217L |
possibly damaging |
Het |
| Shank3 |
T |
G |
15: 89,409,453 (GRCm39) |
M604R |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,184,488 (GRCm39) |
S238P |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 109,986,410 (GRCm39) |
D237G |
probably damaging |
Het |
| Stag3 |
T |
C |
5: 138,299,701 (GRCm39) |
S871P |
possibly damaging |
Het |
| Tmem132d |
A |
G |
5: 128,346,075 (GRCm39) |
F149S |
probably damaging |
Het |
| Tmem25 |
C |
T |
9: 44,706,515 (GRCm39) |
E333K |
|
Het |
| Togaram1 |
T |
A |
12: 65,066,082 (GRCm39) |
Y1695* |
probably null |
Het |
| Tox3 |
G |
A |
8: 90,984,574 (GRCm39) |
P202S |
probably damaging |
Het |
| Trim34b |
T |
A |
7: 103,980,474 (GRCm39) |
N187K |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,841,081 (GRCm39) |
S1488P |
probably benign |
Het |
| Vps26a |
A |
C |
10: 62,305,791 (GRCm39) |
V124G |
probably benign |
Het |
| Vps50 |
T |
G |
6: 3,516,706 (GRCm39) |
S63A |
possibly damaging |
Het |
| Wbp4 |
T |
A |
14: 79,707,553 (GRCm39) |
E186V |
possibly damaging |
Het |
| Zfp52 |
A |
G |
17: 21,781,937 (GRCm39) |
D595G |
possibly damaging |
Het |
| Zfr2 |
C |
A |
10: 81,084,252 (GRCm39) |
S1* |
probably null |
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 |
|
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 |
|
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'- AGACTTCTAAATCAGACATGACAGC -3'
(R):5'- CAGGCAGCAAAATAAGTCGTTG -3'
Sequencing Primer
(F):5'- CACAAAAAGAGATTTCAACAGGAGTG -3'
(R):5'- GCAGCAAAATAAGTCGTTGAGTTTG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation