Incidental Mutation 'IGL02889:Bloc1s6'
| ID |
363112 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bloc1s6
|
| Ensembl Gene |
ENSMUSG00000005804 |
| Gene Name |
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin |
| Synonyms |
BLOC-1, BLOC-1 subunit, Pldn |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
IGL02889
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
122580423-122591395 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122584604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 60
(Y60H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005954]
|
| AlphaFold |
Q9R0C0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005954
AA Change: Y60H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005954
Gene: ENSMUSG00000005804
AA Change: Y60H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Snapin_Pallidin
|
50 |
140 |
2.5e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127595
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150154
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mutations at this locus result in a coat color abnormality, abnormal platelet morphology, age related lung abnormalities, decreased ssurvival, and impaired motor coordination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
C |
T |
10: 77,149,375 (GRCm39) |
V371I |
probably benign |
Het |
| Amdhd2 |
A |
G |
17: 24,376,761 (GRCm39) |
L308P |
probably damaging |
Het |
| Antxr2 |
G |
T |
5: 98,125,509 (GRCm39) |
H249Q |
probably benign |
Het |
| Arg1 |
A |
T |
10: 24,791,653 (GRCm39) |
M276K |
probably damaging |
Het |
| Btnl9 |
A |
T |
11: 49,069,604 (GRCm39) |
V225E |
probably damaging |
Het |
| Col1a1 |
T |
C |
11: 94,842,335 (GRCm39) |
Y1418H |
unknown |
Het |
| Ct45a |
C |
A |
X: 55,592,551 (GRCm39) |
K19N |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,554,581 (GRCm39) |
I1162K |
possibly damaging |
Het |
| Dmgdh |
T |
C |
13: 93,852,185 (GRCm39) |
|
probably null |
Het |
| Ear10 |
A |
G |
14: 44,160,726 (GRCm39) |
F34L |
probably damaging |
Het |
| Fli1 |
A |
G |
9: 32,376,992 (GRCm39) |
I92T |
probably damaging |
Het |
| Fpgs |
G |
A |
2: 32,575,891 (GRCm39) |
|
probably benign |
Het |
| Glp1r |
T |
A |
17: 31,150,118 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Ifitm3 |
C |
T |
7: 140,589,792 (GRCm39) |
R87Q |
probably damaging |
Het |
| Ints3 |
G |
T |
3: 90,300,143 (GRCm39) |
H925N |
probably damaging |
Het |
| Itgb4 |
T |
A |
11: 115,879,731 (GRCm39) |
C628S |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,878,443 (GRCm39) |
D402V |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,124,991 (GRCm39) |
E147V |
probably null |
Het |
| Krtap19-4 |
T |
C |
16: 88,681,944 (GRCm39) |
Y4C |
unknown |
Het |
| Lrp2 |
A |
T |
2: 69,382,794 (GRCm39) |
S30R |
possibly damaging |
Het |
| Or11g27 |
A |
G |
14: 50,770,970 (GRCm39) |
I34V |
probably benign |
Het |
| Or8g2b |
A |
G |
9: 39,751,533 (GRCm39) |
M268V |
probably benign |
Het |
| Prima1 |
A |
G |
12: 103,163,575 (GRCm39) |
V132A |
probably benign |
Het |
| Psme1 |
A |
G |
14: 55,817,383 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
C |
A |
17: 26,286,653 (GRCm39) |
R500L |
possibly damaging |
Het |
| Rnf40 |
C |
A |
7: 127,190,601 (GRCm39) |
S255* |
probably null |
Het |
| Sebox |
T |
C |
11: 78,395,156 (GRCm39) |
V166A |
probably benign |
Het |
| Spata24 |
C |
A |
18: 35,789,805 (GRCm39) |
R194L |
probably benign |
Het |
| Spata31h1 |
C |
T |
10: 82,119,654 (GRCm39) |
S482N |
probably damaging |
Het |
| Tbx4 |
T |
A |
11: 85,790,621 (GRCm39) |
Y154* |
probably null |
Het |
| Trim24 |
G |
A |
6: 37,934,696 (GRCm39) |
E768K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,562,304 (GRCm39) |
V28847A |
possibly damaging |
Het |
| Utp6 |
T |
A |
11: 79,839,896 (GRCm39) |
Q264L |
possibly damaging |
Het |
| Vim |
A |
G |
2: 13,585,491 (GRCm39) |
R424G |
probably damaging |
Het |
| Vmn1r216 |
A |
C |
13: 23,283,649 (GRCm39) |
T111P |
probably damaging |
Het |
| Wnt11 |
G |
A |
7: 98,499,566 (GRCm39) |
A244T |
probably damaging |
Het |
| Zbtb26 |
A |
C |
2: 37,326,261 (GRCm39) |
N247K |
probably benign |
Het |
| Zfp629 |
T |
G |
7: 127,209,203 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Bloc1s6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01458:Bloc1s6
|
APN |
2 |
122,586,135 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02867:Bloc1s6
|
APN |
2 |
122,584,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03352:Bloc1s6
|
APN |
2 |
122,584,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
livid
|
UTSW |
2 |
122,584,565 (GRCm39) |
nonsense |
probably null |
|
|
R0057:Bloc1s6
|
UTSW |
2 |
122,586,141 (GRCm39) |
splice site |
probably benign |
|
|
R0057:Bloc1s6
|
UTSW |
2 |
122,586,141 (GRCm39) |
splice site |
probably benign |
|
|
R0122:Bloc1s6
|
UTSW |
2 |
122,587,963 (GRCm39) |
splice site |
probably benign |
|
|
R0656:Bloc1s6
|
UTSW |
2 |
122,584,543 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1485:Bloc1s6
|
UTSW |
2 |
122,588,063 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5657:Bloc1s6
|
UTSW |
2 |
122,580,577 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7292:Bloc1s6
|
UTSW |
2 |
122,584,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Bloc1s6
|
UTSW |
2 |
122,584,565 (GRCm39) |
nonsense |
probably null |
|
|
R8728:Bloc1s6
|
UTSW |
2 |
122,588,026 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9117:Bloc1s6
|
UTSW |
2 |
122,588,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Bloc1s6
|
UTSW |
2 |
122,580,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation