Incidental Mutation 'R4274:Hps4'
| ID |
324699 |
| 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 |
041077-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.292)
|
| Stock # |
R4274 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
112490949-112526280 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 112522896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035279]
[ENSMUST00000112359]
|
| AlphaFold |
Q99KG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035279
|
| SMART Domains |
Protein: ENSMUSP00000047920
Gene: ENSMUSG00000042328
| 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 |
probably benign
Transcript: ENSMUST00000112359
|
| SMART Domains |
Protein: ENSMUSP00000107978
Gene: ENSMUSG00000042328
| 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 |
noncoding transcript
Transcript: ENSMUST00000133708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199500
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (55/56) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,980,930 (GRCm39) |
Y36C |
probably damaging |
Het |
| Abcc4 |
T |
C |
14: 118,867,034 (GRCm39) |
R228G |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,926,932 (GRCm39) |
S528T |
probably benign |
Het |
| Adamts6 |
T |
A |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
| Ano8 |
G |
T |
8: 71,931,385 (GRCm39) |
|
probably benign |
Het |
| Ano9 |
T |
G |
7: 140,690,608 (GRCm39) |
Q48P |
probably benign |
Het |
| Atp13a1 |
T |
G |
8: 70,257,942 (GRCm39) |
L899R |
probably benign |
Het |
| Card10 |
G |
A |
15: 78,664,714 (GRCm39) |
R747W |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,828,820 (GRCm39) |
*295R |
probably null |
Het |
| Dhx9 |
A |
G |
1: 153,344,672 (GRCm39) |
I505T |
probably damaging |
Het |
| Dnajc17 |
A |
T |
2: 119,016,866 (GRCm39) |
S37T |
probably benign |
Het |
| Dot1l |
T |
A |
10: 80,619,822 (GRCm39) |
|
probably null |
Het |
| Dph7 |
A |
G |
2: 24,853,512 (GRCm39) |
N109S |
possibly damaging |
Het |
| Ednra |
C |
T |
8: 78,446,931 (GRCm39) |
G49D |
probably benign |
Het |
| Fam83g |
T |
C |
11: 61,592,554 (GRCm39) |
M259T |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,862,464 (GRCm39) |
D1736E |
probably damaging |
Het |
| Fetub |
T |
C |
16: 22,754,429 (GRCm39) |
I212T |
probably damaging |
Het |
| Foxc2 |
C |
A |
8: 121,844,439 (GRCm39) |
S362R |
probably benign |
Het |
| Gm8444 |
A |
G |
15: 81,727,734 (GRCm39) |
|
probably benign |
Het |
| Gpank1 |
G |
A |
17: 35,343,245 (GRCm39) |
E242K |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ighv1-20 |
A |
T |
12: 114,687,819 (GRCm39) |
W3R |
probably damaging |
Het |
| Kcnq1 |
T |
C |
7: 142,738,179 (GRCm39) |
I209T |
probably damaging |
Het |
| Me3 |
A |
T |
7: 89,455,934 (GRCm39) |
E262V |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 82,009,064 (GRCm39) |
R1233Q |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,574 (GRCm39) |
|
noncoding transcript |
Het |
| Or4k37 |
A |
T |
2: 111,159,160 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or5p6 |
C |
A |
7: 107,630,751 (GRCm39) |
K266N |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,623,364 (GRCm39) |
D70E |
probably damaging |
Het |
| Ostm1 |
T |
C |
10: 42,574,230 (GRCm39) |
F153L |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,751 (GRCm39) |
T532I |
possibly damaging |
Het |
| Prpf40a |
G |
A |
2: 53,036,184 (GRCm39) |
H624Y |
probably damaging |
Het |
| Rtn2 |
T |
C |
7: 19,021,249 (GRCm39) |
S210P |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,927,734 (GRCm39) |
Q24R |
probably benign |
Het |
| Smurf1 |
T |
C |
5: 144,833,585 (GRCm39) |
|
probably benign |
Het |
| Ssr1 |
G |
A |
13: 38,169,266 (GRCm39) |
L225F |
possibly damaging |
Het |
| Tlr6 |
A |
G |
5: 65,110,981 (GRCm39) |
I642T |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Tnrc18 |
T |
C |
5: 142,729,405 (GRCm39) |
K1674R |
unknown |
Het |
| Tns1 |
T |
A |
1: 73,967,257 (GRCm39) |
Y1115F |
probably damaging |
Het |
| Trim56 |
T |
A |
5: 137,142,541 (GRCm39) |
E325V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,606,318 (GRCm39) |
T18164A |
possibly damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
| Vmn2r125 |
T |
C |
4: 156,702,382 (GRCm39) |
I56T |
probably benign |
Het |
| Xkr5 |
T |
A |
8: 18,984,183 (GRCm39) |
H453L |
probably benign |
Het |
| Zcchc7 |
C |
T |
4: 44,931,335 (GRCm39) |
H496Y |
possibly damaging |
Het |
| Zfp82 |
C |
T |
7: 29,755,792 (GRCm39) |
R430H |
probably damaging |
Het |
| Zscan22 |
T |
C |
7: 12,640,251 (GRCm39) |
V6A |
probably benign |
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 |
|
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 |
|
R9232: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'- TGGGTACTTACCTTTCAACTAAGTGTG -3'
(R):5'- TGCCTCTGGGAGAAAGCAAG -3'
Sequencing Primer
(F):5'- TCAACTAAGTGTGCCGACCTGTG -3'
(R):5'- AGGTTCCAACTCGGGAAA -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation