Incidental Mutation 'R7659:Hps3'
| ID |
591417 |
| 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 |
045734-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R7659 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
20050109-20089478 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 20076978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 395
(R395*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012580]
[ENSMUST00000108321]
|
| AlphaFold |
Q91VB4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000012580
AA Change: R395*
|
| SMART Domains |
Protein: ENSMUSP00000012580
Gene: ENSMUSG00000027615
AA Change: R395*
| 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: R263*
|
| SMART Domains |
Protein: ENSMUSP00000103957
Gene: ENSMUSG00000027615
AA Change: R263*
| 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: 99.2%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh2 |
T |
C |
5: 121,707,023 (GRCm39) |
E498G |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,729,294 (GRCm39) |
T284A |
possibly damaging |
Het |
| Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Atp6v0a4 |
A |
G |
6: 38,048,907 (GRCm39) |
I452T |
probably damaging |
Het |
| Azgp1 |
G |
T |
5: 137,985,775 (GRCm39) |
A133S |
probably damaging |
Het |
| Bmp2k |
T |
C |
5: 97,222,578 (GRCm39) |
S667P |
unknown |
Het |
| C1qtnf9 |
T |
A |
14: 61,009,753 (GRCm39) |
I3N |
possibly damaging |
Het |
| C530025M09Rik |
T |
G |
2: 149,672,539 (GRCm39) |
T199P |
unknown |
Het |
| Casc3 |
C |
G |
11: 98,700,699 (GRCm39) |
R4G |
unknown |
Het |
| Cass4 |
A |
G |
2: 172,268,947 (GRCm39) |
D343G |
probably damaging |
Het |
| Cenatac |
T |
C |
9: 44,324,790 (GRCm39) |
E164G |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,709,467 (GRCm39) |
T2517S |
unknown |
Het |
| Dbr1 |
A |
G |
9: 99,458,663 (GRCm39) |
T78A |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,880,606 (GRCm39) |
F2664L |
probably damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,826,280 (GRCm39) |
I431T |
probably damaging |
Het |
| Got1 |
A |
G |
19: 43,493,078 (GRCm39) |
V281A |
probably benign |
Het |
| Gpld1 |
A |
C |
13: 25,163,964 (GRCm39) |
R555S |
probably benign |
Het |
| Gpr149 |
T |
C |
3: 62,511,256 (GRCm39) |
R248G |
probably benign |
Het |
| Inpp5b |
T |
C |
4: 124,689,219 (GRCm39) |
L833P |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,870,557 (GRCm39) |
S129C |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,974,542 (GRCm39) |
|
probably benign |
Het |
| Lgr4 |
T |
A |
2: 109,827,111 (GRCm39) |
V205E |
probably damaging |
Het |
| Mbd3 |
T |
C |
10: 80,231,019 (GRCm39) |
N96S |
probably damaging |
Het |
| Mcam |
T |
A |
9: 44,048,067 (GRCm39) |
C136S |
unknown |
Het |
| Mki67 |
A |
G |
7: 135,299,155 (GRCm39) |
S1960P |
probably damaging |
Het |
| Mogs |
G |
A |
6: 83,093,806 (GRCm39) |
|
probably null |
Het |
| Muc6 |
T |
C |
7: 141,216,973 (GRCm39) |
T2567A |
possibly damaging |
Het |
| Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
| Nae1 |
A |
G |
8: 105,242,796 (GRCm39) |
V432A |
probably benign |
Het |
| Nav3 |
T |
G |
10: 109,602,851 (GRCm39) |
T1233P |
probably benign |
Het |
| Nme9 |
G |
A |
9: 99,352,910 (GRCm39) |
A287T |
possibly damaging |
Het |
| Nmrk1 |
A |
G |
19: 18,613,499 (GRCm39) |
I8V |
probably benign |
Het |
| Noa1 |
T |
C |
5: 77,457,237 (GRCm39) |
N223D |
not run |
Het |
| Nr4a3 |
T |
C |
4: 48,051,269 (GRCm39) |
Y8H |
probably damaging |
Het |
| Or12e1 |
T |
A |
2: 87,022,709 (GRCm39) |
V226E |
possibly damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,637 (GRCm39) |
V9E |
possibly damaging |
Het |
| Or2b4 |
A |
T |
17: 38,116,054 (GRCm39) |
Q6L |
probably benign |
Het |
| Or4n4b |
T |
C |
14: 50,536,698 (GRCm39) |
I23V |
probably benign |
Het |
| Or4p20 |
T |
C |
2: 88,254,270 (GRCm39) |
Y33C |
probably damaging |
Het |
| Or52h2 |
T |
C |
7: 103,839,394 (GRCm39) |
S7G |
probably benign |
Het |
| Or7g29 |
C |
T |
9: 19,286,854 (GRCm39) |
A108T |
probably benign |
Het |
| Or8c9 |
T |
C |
9: 38,241,012 (GRCm39) |
V40A |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,733,267 (GRCm39) |
H711Q |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,612,981 (GRCm39) |
E2048D |
probably benign |
Het |
| Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,081,219 (GRCm39) |
T654A |
probably benign |
Het |
| Pigg |
G |
A |
5: 108,486,485 (GRCm39) |
V713I |
probably benign |
Het |
| Ppt1 |
T |
A |
4: 122,730,126 (GRCm39) |
H26Q |
probably benign |
Het |
| Prim1 |
T |
C |
10: 127,862,458 (GRCm39) |
|
probably null |
Het |
| Prmt7 |
G |
T |
8: 106,963,918 (GRCm39) |
A271S |
probably benign |
Het |
| Ptprd |
T |
C |
4: 76,047,153 (GRCm39) |
D124G |
probably benign |
Het |
| Rad54l2 |
T |
C |
9: 106,590,777 (GRCm39) |
K450E |
probably benign |
Het |
| Rasgrp2 |
G |
T |
19: 6,451,857 (GRCm39) |
V13L |
probably damaging |
Het |
| Sapcd2 |
A |
G |
2: 25,265,978 (GRCm39) |
|
probably null |
Het |
| Siglecf |
A |
G |
7: 43,001,194 (GRCm39) |
Y54C |
probably damaging |
Het |
| Stk31 |
T |
A |
6: 49,400,340 (GRCm39) |
N388K |
probably benign |
Het |
| Timm23 |
A |
C |
14: 31,920,935 (GRCm39) |
Y52* |
probably null |
Het |
| Tm9sf1 |
A |
T |
14: 55,873,792 (GRCm39) |
F569I |
probably damaging |
Het |
| Tmprss9 |
C |
A |
10: 80,728,843 (GRCm39) |
A592E |
probably damaging |
Het |
| Trim30d |
A |
T |
7: 104,121,554 (GRCm39) |
V397E |
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,034,200 (GRCm39) |
N69K |
probably damaging |
Het |
| Upk2 |
A |
C |
9: 44,364,808 (GRCm39) |
S130R |
probably damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,926,977 (GRCm39) |
Y29C |
probably damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,793,749 (GRCm39) |
I31T |
probably benign |
Het |
| Zfp975 |
T |
C |
7: 42,311,848 (GRCm39) |
Q255R |
probably benign |
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 |
|
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'- GTAGTTTCTCGCCACAATGAG -3'
(R):5'- AGTCTAACTCACTATCACGTGTCAG -3'
Sequencing Primer
(F):5'- AGAAGATGCTCCACTGCTTG -3'
(R):5'- TCACTATCACGTGTCAGATACTAAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation