Incidental Mutation 'IGL01459:Vps33a'
| ID |
87942 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vps33a
|
| Ensembl Gene |
ENSMUSG00000029434 |
| Gene Name |
VPS33A CORVET/HOPS core subunit |
| Synonyms |
3830421M04Rik, bf |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01459
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
123666820-123711104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123673371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 405
(L405P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031388]
|
| AlphaFold |
Q9D2N9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031388
AA Change: L405P
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031388
Gene: ENSMUSG00000029434
AA Change: L405P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
Pfam:Sec1
|
34 |
592 |
7.2e-104 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene produce hypopigmentation, an extended bleeeding time and abnormal kidney function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2a2 |
A |
G |
5: 122,607,715 (GRCm39) |
S265P |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,848,620 (GRCm39) |
F520L |
probably damaging |
Het |
| Cdh5 |
A |
T |
8: 104,864,449 (GRCm39) |
D470V |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,281,378 (GRCm39) |
R41G |
probably damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,802,024 (GRCm39) |
C345Y |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,653,981 (GRCm39) |
Y1419* |
probably null |
Het |
| Entpd3 |
T |
C |
9: 120,391,007 (GRCm39) |
S420P |
probably damaging |
Het |
| Epb41 |
A |
G |
4: 131,691,439 (GRCm39) |
|
probably benign |
Het |
| Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
| Fndc3b |
T |
A |
3: 27,515,889 (GRCm39) |
H639L |
probably benign |
Het |
| Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
| Kbtbd8 |
A |
G |
6: 95,099,789 (GRCm39) |
N356D |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,804,820 (GRCm39) |
E189G |
probably damaging |
Het |
| Kif2b |
T |
C |
11: 91,467,849 (GRCm39) |
K145E |
possibly damaging |
Het |
| Kif5c |
A |
G |
2: 49,625,569 (GRCm39) |
D613G |
probably benign |
Het |
| Lipe |
T |
G |
7: 25,082,967 (GRCm39) |
Q457P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,750,726 (GRCm39) |
I2946N |
probably damaging |
Het |
| Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,066,804 (GRCm39) |
S5886P |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,506,196 (GRCm39) |
|
probably null |
Het |
| Nup153 |
T |
C |
13: 46,866,402 (GRCm39) |
E214G |
possibly damaging |
Het |
| Or14c44 |
A |
C |
7: 86,061,759 (GRCm39) |
N104T |
probably damaging |
Het |
| Or6c66b |
G |
A |
10: 129,376,410 (GRCm39) |
M1I |
probably null |
Het |
| Paqr3 |
T |
C |
5: 97,243,796 (GRCm39) |
D306G |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,446,878 (GRCm39) |
D796G |
probably benign |
Het |
| Prkra |
A |
G |
2: 76,460,780 (GRCm39) |
L306S |
probably damaging |
Het |
| Psg20 |
T |
A |
7: 18,416,638 (GRCm39) |
E159D |
probably damaging |
Het |
| Ptchd3 |
G |
T |
11: 121,721,246 (GRCm39) |
V40L |
probably benign |
Het |
| Rfx5 |
T |
C |
3: 94,865,086 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,865,275 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
C |
A |
11: 53,877,303 (GRCm39) |
|
probably null |
Het |
| Tars1 |
A |
G |
15: 11,391,940 (GRCm39) |
V265A |
possibly damaging |
Het |
| Tatdn2 |
T |
A |
6: 113,686,992 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
C |
T |
7: 96,378,592 (GRCm39) |
P399L |
probably damaging |
Het |
| Tmem135 |
A |
T |
7: 88,800,646 (GRCm39) |
D325E |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,483,706 (GRCm39) |
I556N |
probably benign |
Het |
| Tom1l2 |
C |
T |
11: 60,171,095 (GRCm39) |
G23S |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,241,435 (GRCm39) |
|
probably benign |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,241 (GRCm39) |
I54T |
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,603,903 (GRCm39) |
C43R |
probably damaging |
Het |
| Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
probably damaging |
Het |
|
| Other mutations in Vps33a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01345:Vps33a
|
APN |
5 |
123,711,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02473:Vps33a
|
APN |
5 |
123,707,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02899:Vps33a
|
APN |
5 |
123,669,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0498:Vps33a
|
UTSW |
5 |
123,709,024 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1134:Vps33a
|
UTSW |
5 |
123,708,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1928:Vps33a
|
UTSW |
5 |
123,696,684 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2012:Vps33a
|
UTSW |
5 |
123,669,244 (GRCm39) |
splice site |
probably null |
|
|
R2926:Vps33a
|
UTSW |
5 |
123,707,634 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3688:Vps33a
|
UTSW |
5 |
123,673,274 (GRCm39) |
splice site |
probably null |
|
|
R3872:Vps33a
|
UTSW |
5 |
123,669,255 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4437:Vps33a
|
UTSW |
5 |
123,669,947 (GRCm39) |
missense |
probably benign |
|
|
R5153:Vps33a
|
UTSW |
5 |
123,696,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Vps33a
|
UTSW |
5 |
123,696,693 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5686:Vps33a
|
UTSW |
5 |
123,685,064 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5714:Vps33a
|
UTSW |
5 |
123,707,563 (GRCm39) |
missense |
probably benign |
|
|
R5814:Vps33a
|
UTSW |
5 |
123,703,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6845:Vps33a
|
UTSW |
5 |
123,673,335 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7183:Vps33a
|
UTSW |
5 |
123,673,278 (GRCm39) |
missense |
probably null |
0.83 |
|
R7359:Vps33a
|
UTSW |
5 |
123,696,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7593:Vps33a
|
UTSW |
5 |
123,674,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7855:Vps33a
|
UTSW |
5 |
123,709,042 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7885:Vps33a
|
UTSW |
5 |
123,673,312 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8025:Vps33a
|
UTSW |
5 |
123,696,738 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8139:Vps33a
|
UTSW |
5 |
123,672,015 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8275:Vps33a
|
UTSW |
5 |
123,707,522 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8434:Vps33a
|
UTSW |
5 |
123,671,944 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8845:Vps33a
|
UTSW |
5 |
123,709,538 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8879:Vps33a
|
UTSW |
5 |
123,671,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Vps33a
|
UTSW |
5 |
123,707,506 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9172:Vps33a
|
UTSW |
5 |
123,674,604 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9440:Vps33a
|
UTSW |
5 |
123,703,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Vps33a
|
UTSW |
5 |
123,696,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9725:Vps33a
|
UTSW |
5 |
123,669,135 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0026:Vps33a
|
UTSW |
5 |
123,685,160 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2013-11-18 |
Incidental Mutation