Incidental Mutation 'R9232:Hps4'
ID |
700291 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hps4
|
Ensembl Gene |
ENSMUSG00000042328 |
Gene Name |
HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
Synonyms |
BLOC-3, 2010205O06Rik, Hermansky-Pudlak syndrome 4, C130020P05Rik |
MMRRC Submission |
068986-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.292)
|
Stock # |
R9232 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
112490949-112526280 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 112525905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 642
(S642N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047920
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035279]
[ENSMUST00000112359]
|
AlphaFold |
Q99KG7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035279
AA Change: S642N
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000047920 Gene: ENSMUSG00000042328 AA Change: S642N
Domain | Start | End | E-Value | Type |
low complexity region
|
171 |
180 |
N/A |
INTRINSIC |
low complexity region
|
467 |
486 |
N/A |
INTRINSIC |
low complexity region
|
514 |
529 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112359
AA Change: S642N
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107978 Gene: ENSMUSG00000042328 AA Change: S642N
Domain | Start | End | E-Value | Type |
low complexity region
|
171 |
180 |
N/A |
INTRINSIC |
low complexity region
|
467 |
486 |
N/A |
INTRINSIC |
low complexity region
|
514 |
529 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0638 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (53/54) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012] PHENOTYPE: Homozygotes for a spontaneous null mutation exhibit hypopigmentation, prolonged bleeding associated with a platelet defect, reduced secretion of kidney lysosomal enzymes, and resistance to diet-induced atherosclerosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
A |
T |
18: 10,652,198 (GRCm39) |
S278T |
probably benign |
Het |
Adgrf1 |
T |
C |
17: 43,621,295 (GRCm39) |
Y511H |
probably benign |
Het |
Atp5pd |
A |
G |
11: 115,309,221 (GRCm39) |
F38S |
probably benign |
Het |
Cdc6 |
T |
G |
11: 98,801,201 (GRCm39) |
S151A |
probably benign |
Het |
Ceacam12 |
T |
A |
7: 17,803,341 (GRCm39) |
M249K |
probably benign |
Het |
Cenpt |
T |
C |
8: 106,571,793 (GRCm39) |
Q446R |
probably damaging |
Het |
Cnnm1 |
T |
A |
19: 43,480,325 (GRCm39) |
S883T |
probably benign |
Het |
Cntn6 |
T |
C |
6: 104,815,781 (GRCm39) |
W721R |
probably damaging |
Het |
Defb43 |
A |
G |
14: 63,255,281 (GRCm39) |
K38R |
probably damaging |
Het |
Eif2a |
T |
C |
3: 58,463,022 (GRCm39) |
S522P |
probably benign |
Het |
Erap1 |
T |
G |
13: 74,811,637 (GRCm39) |
S332R |
probably benign |
Het |
Foxa3 |
C |
A |
7: 18,748,790 (GRCm39) |
R112L |
probably damaging |
Het |
Foxf1 |
T |
A |
8: 121,811,715 (GRCm39) |
M193K |
possibly damaging |
Het |
Gbp11 |
T |
C |
5: 105,476,290 (GRCm39) |
Y273C |
possibly damaging |
Het |
Gli2 |
T |
A |
1: 118,764,021 (GRCm39) |
T1377S |
probably benign |
Het |
Gm10271 |
T |
A |
10: 116,808,479 (GRCm39) |
L12F |
probably damaging |
Het |
Grm5 |
G |
A |
7: 87,723,591 (GRCm39) |
G627D |
probably damaging |
Het |
Gtf3c4 |
A |
G |
2: 28,724,848 (GRCm39) |
S295P |
probably damaging |
Het |
Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
Iqch |
T |
A |
9: 63,329,200 (GRCm39) |
M1045L |
probably benign |
Het |
Kcnt2 |
T |
C |
1: 140,411,931 (GRCm39) |
S455P |
possibly damaging |
Het |
Kif26b |
G |
A |
1: 178,742,511 (GRCm39) |
G869E |
probably damaging |
Het |
Kit |
A |
G |
5: 75,799,792 (GRCm39) |
N508S |
probably benign |
Het |
Lgals8 |
C |
T |
13: 12,469,777 (GRCm39) |
V61M |
probably damaging |
Het |
Lztr1 |
T |
C |
16: 17,339,343 (GRCm39) |
V392A |
possibly damaging |
Het |
Mad1l1 |
T |
A |
5: 140,091,296 (GRCm39) |
M524L |
probably benign |
Het |
Mob3b |
T |
C |
4: 34,986,101 (GRCm39) |
N146D |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,567,336 (GRCm39) |
T1728A |
unknown |
Het |
Nlgn2 |
T |
C |
11: 69,718,855 (GRCm39) |
H278R |
probably damaging |
Het |
Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,705,423 (GRCm39) |
M943V |
probably benign |
Het |
Pramel25 |
T |
G |
4: 143,520,263 (GRCm39) |
L169R |
probably benign |
Het |
Proser2 |
A |
G |
2: 6,106,015 (GRCm39) |
L183P |
probably benign |
Het |
Prss36 |
T |
C |
7: 127,543,988 (GRCm39) |
I128V |
probably benign |
Het |
Rabggta |
C |
T |
14: 55,956,745 (GRCm39) |
V320I |
probably benign |
Het |
Sepsecs |
A |
G |
5: 52,823,344 (GRCm39) |
V125A |
probably benign |
Het |
Sik3 |
C |
T |
9: 46,123,216 (GRCm39) |
P1005L |
probably benign |
Het |
Slc22a20 |
A |
T |
19: 6,023,009 (GRCm39) |
I378N |
possibly damaging |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
Tap1 |
T |
C |
17: 34,412,277 (GRCm39) |
V494A |
probably benign |
Het |
Tg |
A |
G |
15: 66,570,310 (GRCm39) |
D1394G |
probably benign |
Het |
Tgfbr3 |
T |
C |
5: 107,290,361 (GRCm39) |
T315A |
possibly damaging |
Het |
Tmc2 |
A |
G |
2: 130,085,049 (GRCm39) |
T559A |
probably damaging |
Het |
Tph1 |
A |
G |
7: 46,311,529 (GRCm39) |
I71T |
probably benign |
Het |
Trib3 |
A |
T |
2: 152,184,962 (GRCm39) |
C96S |
probably damaging |
Het |
Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
Trim56 |
A |
G |
5: 137,141,632 (GRCm39) |
V628A |
probably damaging |
Het |
Ttc6 |
A |
G |
12: 57,776,210 (GRCm39) |
Y1718C |
probably damaging |
Het |
Tuft1 |
T |
C |
3: 94,529,445 (GRCm39) |
Q244R |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,240,321 (GRCm39) |
T793A |
probably benign |
Het |
Vmn1r39 |
A |
G |
6: 66,781,580 (GRCm39) |
I246T |
possibly damaging |
Het |
Xpo1 |
T |
C |
11: 23,232,646 (GRCm39) |
S389P |
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,347,168 (GRCm39) |
F1849S |
possibly damaging |
Het |
|
Other mutations in Hps4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01485:Hps4
|
APN |
5 |
112,512,377 (GRCm39) |
splice site |
probably benign |
|
IGL02331:Hps4
|
APN |
5 |
112,517,402 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02410:Hps4
|
APN |
5 |
112,518,093 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02821:Hps4
|
APN |
5 |
112,523,307 (GRCm39) |
missense |
probably benign |
0.02 |
R0748:Hps4
|
UTSW |
5 |
112,522,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R1487:Hps4
|
UTSW |
5 |
112,525,865 (GRCm39) |
nonsense |
probably null |
|
R1891:Hps4
|
UTSW |
5 |
112,517,422 (GRCm39) |
splice site |
probably null |
|
R2010:Hps4
|
UTSW |
5 |
112,517,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R2305:Hps4
|
UTSW |
5 |
112,494,527 (GRCm39) |
missense |
probably damaging |
0.99 |
R3196:Hps4
|
UTSW |
5 |
112,512,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R4274:Hps4
|
UTSW |
5 |
112,522,896 (GRCm39) |
intron |
probably benign |
|
R4878:Hps4
|
UTSW |
5 |
112,523,234 (GRCm39) |
missense |
probably benign |
0.12 |
R4988:Hps4
|
UTSW |
5 |
112,526,019 (GRCm39) |
utr 3 prime |
probably benign |
|
R5843:Hps4
|
UTSW |
5 |
112,497,296 (GRCm39) |
critical splice donor site |
probably null |
|
R5896:Hps4
|
UTSW |
5 |
112,517,351 (GRCm39) |
missense |
probably benign |
0.02 |
R6318:Hps4
|
UTSW |
5 |
112,494,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R7381:Hps4
|
UTSW |
5 |
112,523,324 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7781:Hps4
|
UTSW |
5 |
112,518,388 (GRCm39) |
missense |
probably benign |
0.14 |
R8112:Hps4
|
UTSW |
5 |
112,517,977 (GRCm39) |
missense |
probably benign |
0.17 |
R8996:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9058:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9059:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9060:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9103:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9105:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9106:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9175:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9210:Hps4
|
UTSW |
5 |
112,497,227 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9226:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9227:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9229:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9230:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9233:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9234:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9236:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9330:Hps4
|
UTSW |
5 |
112,525,905 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9459:Hps4
|
UTSW |
5 |
112,522,875 (GRCm39) |
missense |
probably benign |
0.30 |
Z1177:Hps4
|
UTSW |
5 |
112,518,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAAGACAGGACAGTTGTTCCC -3'
(R):5'- ACTCAGTTCTTGCAGCTGC -3'
Sequencing Primer
(F):5'- CTGGGCCTGAAGTTCAAATCG -3'
(R):5'- GTTCTTGCAGCTGCCACTGAG -3'
|
Posted On |
2022-02-07 |