Incidental Mutation 'R2926:Vps33a'
| ID |
255752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps33a
|
| Ensembl Gene |
ENSMUSG00000029434 |
| Gene Name |
VPS33A CORVET/HOPS core subunit |
| Synonyms |
3830421M04Rik, bf |
| MMRRC Submission |
040511-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2926 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123666820-123711104 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123707634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 111
(I111T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031388]
|
| AlphaFold |
Q9D2N9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031388
AA Change: I111T
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031388
Gene: ENSMUSG00000029434
AA Change: I111T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
Pfam:Sec1
|
34 |
592 |
7.2e-104 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198900
|
| Meta Mutation Damage Score |
0.8888 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (50/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
G |
T |
5: 124,216,902 (GRCm39) |
S438R |
possibly damaging |
Het |
| Add3 |
A |
G |
19: 53,215,253 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
T |
C |
4: 129,902,137 (GRCm39) |
L506P |
probably damaging |
Het |
| Atp6v0a1 |
A |
T |
11: 100,934,774 (GRCm39) |
I621L |
probably damaging |
Het |
| Calb1 |
T |
G |
4: 15,904,302 (GRCm39) |
L218R |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,437,203 (GRCm39) |
|
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,601,518 (GRCm39) |
S842T |
possibly damaging |
Het |
| Cd300a |
A |
G |
11: 114,784,139 (GRCm39) |
E49G |
possibly damaging |
Het |
| Colec11 |
T |
A |
12: 28,667,428 (GRCm39) |
Q37L |
probably damaging |
Het |
| D630045J12Rik |
T |
A |
6: 38,145,106 (GRCm39) |
I1307F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,867,564 (GRCm39) |
V257A |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,550,338 (GRCm39) |
N3327I |
probably damaging |
Het |
| Gja8 |
C |
T |
3: 96,826,469 (GRCm39) |
V398I |
probably benign |
Het |
| Hfm1 |
A |
T |
5: 107,022,148 (GRCm39) |
L179* |
probably null |
Het |
| Hsd3b9 |
A |
G |
3: 98,357,872 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
T |
C |
14: 57,726,375 (GRCm39) |
Y678H |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,560,165 (GRCm39) |
N560D |
probably damaging |
Het |
| Itpk1 |
G |
T |
12: 102,545,389 (GRCm39) |
P238Q |
probably damaging |
Het |
| Kl |
T |
C |
5: 150,876,806 (GRCm39) |
W209R |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,954,828 (GRCm39) |
N1127S |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,423,982 (GRCm39) |
C830Y |
probably damaging |
Het |
| Mcmbp |
G |
A |
7: 128,299,738 (GRCm39) |
|
probably benign |
Het |
| Mrps33 |
A |
G |
6: 39,782,438 (GRCm39) |
S28P |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Myt1 |
C |
T |
2: 181,467,803 (GRCm39) |
T1079M |
possibly damaging |
Het |
| N4bp1 |
A |
T |
8: 87,588,424 (GRCm39) |
Y171* |
probably null |
Het |
| Ncln |
G |
T |
10: 81,324,272 (GRCm39) |
T442K |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,602,596 (GRCm39) |
V390A |
probably damaging |
Het |
| Ntrk2 |
C |
A |
13: 59,208,098 (GRCm39) |
T648K |
probably damaging |
Het |
| Nwd1 |
A |
G |
8: 73,393,640 (GRCm39) |
H301R |
probably damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,893 (GRCm39) |
V146E |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,415,443 (GRCm39) |
N561D |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 82,041,769 (GRCm39) |
S2134T |
probably damaging |
Het |
| Ppp1cc |
G |
A |
5: 122,312,151 (GRCm39) |
A306T |
probably benign |
Het |
| Pramel3e |
G |
T |
X: 134,400,297 (GRCm39) |
A96S |
possibly damaging |
Het |
| Prrc2c |
C |
T |
1: 162,533,696 (GRCm39) |
|
probably benign |
Het |
| Rabggta |
C |
T |
14: 55,956,747 (GRCm39) |
R319H |
probably benign |
Het |
| Scn10a |
A |
C |
9: 119,467,767 (GRCm39) |
F791C |
possibly damaging |
Het |
| Stab1 |
T |
A |
14: 30,883,756 (GRCm39) |
D267V |
probably damaging |
Het |
| Sva |
A |
T |
6: 42,019,596 (GRCm39) |
Y152F |
possibly damaging |
Het |
| Tgfbrap1 |
T |
G |
1: 43,114,789 (GRCm39) |
M104L |
probably damaging |
Het |
| Tmed4 |
T |
C |
11: 6,221,728 (GRCm39) |
T203A |
probably benign |
Het |
| Toe1 |
C |
T |
4: 116,662,177 (GRCm39) |
A331T |
possibly damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,700,329 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,636,170 (GRCm39) |
R438* |
probably null |
Het |
| Usp11 |
G |
T |
X: 20,584,031 (GRCm39) |
G601W |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,833,984 (GRCm39) |
T551A |
possibly damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,520,871 (GRCm39) |
K366E |
probably benign |
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 |
|
IGL01459:Vps33a
|
APN |
5 |
123,673,371 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACAACATGGAAGTCTTCGG -3'
(R):5'- AACAATTTGGGTATGAGTGTCTGGC -3'
Sequencing Primer
(F):5'- ATCTCTGAGTTCCAGACTAGGCAG -3'
(R):5'- ATACCCTTGGGCCTGGAATTTAGAC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation