Incidental Mutation 'R7769:Hps3'
ID |
628534 |
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 |
045825-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R7769 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
20050109-20089478 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 20072972 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012580]
[ENSMUST00000108321]
|
AlphaFold |
Q91VB4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000012580
|
SMART Domains |
Protein: ENSMUSP00000012580 Gene: ENSMUSG00000027615
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
|
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: 98.9%
|
Validation Efficiency |
96% (71/74) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
ACCAGCCC |
ACC |
14: 118,852,682 (GRCm39) |
|
probably null |
Het |
Abhd14b |
T |
C |
9: 106,328,819 (GRCm39) |
Y147H |
probably damaging |
Het |
Adam26b |
C |
A |
8: 43,974,732 (GRCm39) |
R90L |
probably benign |
Het |
Agt |
A |
T |
8: 125,291,289 (GRCm39) |
M6K |
probably benign |
Het |
Akr1c14 |
T |
C |
13: 4,109,644 (GRCm39) |
S5P |
probably benign |
Het |
Arhgef38 |
A |
C |
3: 132,855,383 (GRCm39) |
S235A |
unknown |
Het |
Cabp5 |
A |
G |
7: 13,134,658 (GRCm39) |
D31G |
probably benign |
Het |
Cacna1h |
T |
A |
17: 25,604,779 (GRCm39) |
D1178V |
probably damaging |
Het |
Ccdc88a |
A |
T |
11: 29,432,381 (GRCm39) |
E1199D |
probably damaging |
Het |
Cd244a |
A |
T |
1: 171,404,873 (GRCm39) |
I242F |
probably benign |
Het |
Clpb |
G |
T |
7: 101,371,924 (GRCm39) |
R220L |
probably damaging |
Het |
Cltc |
C |
T |
11: 86,610,319 (GRCm39) |
R638H |
probably damaging |
Het |
Cnr1 |
A |
T |
4: 33,944,892 (GRCm39) |
M427L |
probably benign |
Het |
Ctnnbl1 |
C |
T |
2: 157,579,390 (GRCm39) |
|
probably benign |
Het |
Epb41l2 |
A |
T |
10: 25,369,471 (GRCm39) |
T597S |
probably benign |
Het |
Epb41l3 |
T |
C |
17: 69,545,421 (GRCm39) |
Y163H |
probably damaging |
Het |
Fgg |
A |
G |
3: 82,920,433 (GRCm39) |
|
probably null |
Het |
Gm37240 |
A |
T |
3: 84,417,232 (GRCm39) |
D162E |
possibly damaging |
Het |
Gm44511 |
T |
A |
6: 128,797,240 (GRCm39) |
T83S |
probably benign |
Het |
Gm6685 |
T |
A |
11: 28,289,252 (GRCm39) |
Y188F |
probably benign |
Het |
Gprin2 |
A |
T |
14: 33,917,570 (GRCm39) |
C67S |
probably benign |
Het |
Grk6 |
A |
G |
13: 55,598,820 (GRCm39) |
D140G |
probably benign |
Het |
Hspb7 |
T |
C |
4: 141,151,335 (GRCm39) |
V159A |
possibly damaging |
Het |
Ibsp |
A |
G |
5: 104,453,871 (GRCm39) |
N70D |
probably benign |
Het |
Ibsp |
A |
G |
5: 104,458,050 (GRCm39) |
N196D |
probably damaging |
Het |
Igfn1 |
A |
T |
1: 135,910,143 (GRCm39) |
F147Y |
possibly damaging |
Het |
Iqca1 |
T |
G |
1: 90,005,532 (GRCm39) |
D492A |
possibly damaging |
Het |
Klhl42 |
T |
C |
6: 146,993,358 (GRCm39) |
L110P |
possibly damaging |
Het |
Krt12 |
C |
T |
11: 99,308,852 (GRCm39) |
R395Q |
probably damaging |
Het |
Lig4 |
A |
T |
8: 10,023,629 (GRCm39) |
H50Q |
possibly damaging |
Het |
Mttp |
A |
C |
3: 137,808,873 (GRCm39) |
L730R |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,571,803 (GRCm39) |
I239L |
unknown |
Het |
Myo15a |
T |
C |
11: 60,399,975 (GRCm39) |
F1723L |
|
Het |
Niban2 |
A |
G |
2: 32,809,844 (GRCm39) |
T314A |
possibly damaging |
Het |
Nin |
T |
C |
12: 70,090,004 (GRCm39) |
D1137G |
|
Het |
Nsf |
C |
T |
11: 103,819,665 (GRCm39) |
V35M |
probably damaging |
Het |
Numa1 |
T |
A |
7: 101,648,207 (GRCm39) |
I646K |
possibly damaging |
Het |
Nwd2 |
A |
G |
5: 63,961,847 (GRCm39) |
N477S |
probably damaging |
Het |
Or1p1 |
T |
A |
11: 74,179,589 (GRCm39) |
V39E |
probably damaging |
Het |
P4ha3 |
A |
G |
7: 99,934,924 (GRCm39) |
D62G |
probably damaging |
Het |
Palb2 |
G |
T |
7: 121,727,638 (GRCm39) |
D77E |
probably benign |
Het |
Pcmtd2 |
T |
C |
2: 181,493,494 (GRCm39) |
V233A |
probably benign |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pgr |
C |
T |
9: 8,946,856 (GRCm39) |
T699I |
possibly damaging |
Het |
Pknox2 |
C |
A |
9: 36,806,602 (GRCm39) |
|
probably null |
Het |
Ppp2r3d |
T |
C |
9: 124,439,087 (GRCm38) |
H110R |
|
Het |
Psmd11 |
T |
A |
11: 80,325,408 (GRCm39) |
|
probably benign |
Het |
Pyroxd2 |
T |
C |
19: 42,736,001 (GRCm39) |
N59S |
probably benign |
Het |
Qser1 |
A |
T |
2: 104,588,921 (GRCm39) |
D1662E |
possibly damaging |
Het |
Rasip1 |
A |
G |
7: 45,278,239 (GRCm39) |
Y180C |
probably damaging |
Het |
Rbl1 |
T |
C |
2: 157,033,900 (GRCm39) |
S393G |
probably benign |
Het |
Rtn4r |
C |
T |
16: 17,969,153 (GRCm39) |
P194S |
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,798,210 (GRCm39) |
G944D |
probably damaging |
Het |
Scamp3 |
A |
G |
3: 89,085,298 (GRCm39) |
D23G |
probably damaging |
Het |
Secisbp2l |
CTGGG |
C |
2: 125,613,465 (GRCm39) |
|
probably benign |
Het |
Shcbp1 |
A |
G |
8: 4,789,232 (GRCm39) |
I529T |
probably damaging |
Het |
Slc5a10 |
T |
A |
11: 61,564,473 (GRCm39) |
D502V |
probably damaging |
Het |
Smad5 |
T |
C |
13: 56,880,855 (GRCm39) |
I323T |
possibly damaging |
Het |
Spred1 |
T |
C |
2: 117,007,930 (GRCm39) |
S279P |
probably benign |
Het |
Stag1 |
T |
A |
9: 100,826,880 (GRCm39) |
V949D |
possibly damaging |
Het |
Stxbp3 |
A |
G |
3: 108,708,144 (GRCm39) |
S386P |
probably benign |
Het |
Syt14 |
A |
G |
1: 192,666,632 (GRCm39) |
S91P |
unknown |
Het |
Thpo |
C |
T |
16: 20,544,401 (GRCm39) |
A211T |
probably benign |
Het |
Tns1 |
T |
A |
1: 73,992,530 (GRCm39) |
D716V |
probably damaging |
Het |
Trbv26 |
A |
G |
6: 41,204,481 (GRCm39) |
Y8C |
probably benign |
Het |
Tshr |
A |
G |
12: 91,505,044 (GRCm39) |
I661V |
probably damaging |
Het |
Uvrag |
G |
A |
7: 98,628,928 (GRCm39) |
P380S |
probably damaging |
Het |
Vkorc1 |
G |
T |
7: 127,493,696 (GRCm39) |
Y88* |
probably null |
Het |
Vmn1r63 |
C |
T |
7: 5,806,369 (GRCm39) |
V88M |
probably damaging |
Het |
Wdsub1 |
A |
G |
2: 59,708,763 (GRCm39) |
Y37H |
probably damaging |
Het |
Zap70 |
A |
G |
1: 36,809,983 (GRCm39) |
D31G |
probably benign |
Het |
Zc3h12d |
G |
A |
10: 7,743,390 (GRCm39) |
A387T |
probably benign |
Het |
Zfp438 |
C |
T |
18: 5,213,377 (GRCm39) |
R527H |
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 |
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 |
|
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'- CTGGAAGCTGTCTGGATGAAG -3'
(R):5'- TACCTGTGAAGTTCTGTGAGC -3'
Sequencing Primer
(F):5'- GATGAAGTGTTCTGGATGCATAATC -3'
(R):5'- TCTGTGAGCTATGCATATCGAC -3'
|
Posted On |
2020-04-28 |