Incidental Mutation 'R2341:Vps35'
| ID |
246752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps35
|
| Ensembl Gene |
ENSMUSG00000031696 |
| Gene Name |
VPS35 retromer complex component |
| Synonyms |
Mem3 |
| MMRRC Submission |
040327-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2341 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85987014-86026146 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 86001443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034131]
|
| AlphaFold |
Q9EQH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034131
|
| SMART Domains |
Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps35
|
15 |
753 |
6.8e-303 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209277
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E10. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
G |
15: 59,888,212 (GRCm39) |
V76A |
possibly damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 52,999,279 (GRCm39) |
|
probably benign |
Het |
| Anxa4 |
A |
G |
6: 86,720,135 (GRCm39) |
S144P |
probably benign |
Het |
| Bcr |
A |
G |
10: 74,966,944 (GRCm39) |
E517G |
probably damaging |
Het |
| Ccdc57 |
T |
C |
11: 120,751,349 (GRCm39) |
E907G |
probably benign |
Het |
| Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
| Dock6 |
A |
G |
9: 21,750,782 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,177,757 (GRCm39) |
K2031E |
probably damaging |
Het |
| Gm5444 |
T |
C |
13: 4,884,344 (GRCm39) |
|
noncoding transcript |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Ifna16 |
A |
G |
4: 88,594,565 (GRCm39) |
S177P |
probably damaging |
Het |
| Ino80d |
T |
C |
1: 63,104,985 (GRCm39) |
N364D |
possibly damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,855,937 (GRCm39) |
T769A |
probably benign |
Het |
| Ms4a20 |
T |
A |
19: 11,083,157 (GRCm39) |
M88L |
probably benign |
Het |
| Mug1 |
T |
C |
6: 121,861,588 (GRCm39) |
V1350A |
probably benign |
Het |
| Nedd9 |
A |
G |
13: 41,469,987 (GRCm39) |
S389P |
probably damaging |
Het |
| Or10ag57 |
A |
T |
2: 87,218,084 (GRCm39) |
I12F |
probably benign |
Het |
| Or4c11b |
A |
G |
2: 88,624,989 (GRCm39) |
N88D |
probably benign |
Het |
| Or8h8 |
T |
C |
2: 86,752,982 (GRCm39) |
K298R |
possibly damaging |
Het |
| Pole |
A |
T |
5: 110,478,829 (GRCm39) |
I28F |
possibly damaging |
Het |
| Prkce |
C |
A |
17: 86,781,870 (GRCm39) |
P180T |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,909 (GRCm39) |
H1995R |
possibly damaging |
Het |
| Rnf144b |
A |
G |
13: 47,373,976 (GRCm39) |
K58E |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,622,851 (GRCm39) |
R651G |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,845,606 (GRCm39) |
L580F |
possibly damaging |
Het |
| Scn4b |
G |
A |
9: 45,059,127 (GRCm39) |
V133M |
probably damaging |
Het |
| Sipa1l3 |
T |
C |
7: 29,077,060 (GRCm39) |
N904S |
probably damaging |
Het |
| Sun5 |
A |
G |
2: 153,709,422 (GRCm39) |
|
probably benign |
Het |
| Tanc2 |
T |
C |
11: 105,725,877 (GRCm39) |
V347A |
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,937,957 (GRCm39) |
Y197C |
probably damaging |
Het |
| Usp30 |
C |
T |
5: 114,249,241 (GRCm39) |
R182* |
probably null |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Xkr7 |
G |
A |
2: 152,896,318 (GRCm39) |
V391M |
possibly damaging |
Het |
| Ythdf3 |
A |
T |
3: 16,257,379 (GRCm39) |
|
probably benign |
Het |
| Zfp110 |
T |
C |
7: 12,583,113 (GRCm39) |
V587A |
probably benign |
Het |
|
| Other mutations in Vps35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01745:Vps35
|
APN |
8 |
86,000,092 (GRCm39) |
splice site |
probably benign |
|
|
IGL02604:Vps35
|
APN |
8 |
86,013,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03278:Vps35
|
APN |
8 |
86,021,590 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03326:Vps35
|
APN |
8 |
86,001,526 (GRCm39) |
nonsense |
probably null |
|
|
PIT4151001:Vps35
|
UTSW |
8 |
86,010,677 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0118:Vps35
|
UTSW |
8 |
86,021,582 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0226:Vps35
|
UTSW |
8 |
86,000,204 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1079:Vps35
|
UTSW |
8 |
86,005,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1477:Vps35
|
UTSW |
8 |
86,014,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Vps35
|
UTSW |
8 |
86,005,623 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2082:Vps35
|
UTSW |
8 |
85,990,094 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2156:Vps35
|
UTSW |
8 |
86,013,129 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3752:Vps35
|
UTSW |
8 |
86,001,460 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4589:Vps35
|
UTSW |
8 |
86,014,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4745:Vps35
|
UTSW |
8 |
85,987,891 (GRCm39) |
missense |
probably benign |
|
|
R4790:Vps35
|
UTSW |
8 |
86,005,486 (GRCm39) |
splice site |
probably null |
|
|
R4827:Vps35
|
UTSW |
8 |
86,000,186 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4953:Vps35
|
UTSW |
8 |
86,008,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Vps35
|
UTSW |
8 |
85,987,857 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6291:Vps35
|
UTSW |
8 |
86,026,086 (GRCm39) |
start codon destroyed |
probably benign |
0.07 |
|
R6434:Vps35
|
UTSW |
8 |
86,000,124 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7175:Vps35
|
UTSW |
8 |
85,990,189 (GRCm39) |
splice site |
probably null |
|
|
R7206:Vps35
|
UTSW |
8 |
86,014,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7309:Vps35
|
UTSW |
8 |
86,001,596 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7479:Vps35
|
UTSW |
8 |
85,997,434 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7547:Vps35
|
UTSW |
8 |
85,989,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Vps35
|
UTSW |
8 |
86,010,707 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7812:Vps35
|
UTSW |
8 |
86,010,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8312:Vps35
|
UTSW |
8 |
86,001,498 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8356:Vps35
|
UTSW |
8 |
85,987,934 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8403:Vps35
|
UTSW |
8 |
86,001,487 (GRCm39) |
missense |
probably benign |
|
|
R8456:Vps35
|
UTSW |
8 |
85,987,934 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9189:Vps35
|
UTSW |
8 |
86,007,898 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9615:Vps35
|
UTSW |
8 |
86,010,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0020:Vps35
|
UTSW |
8 |
85,990,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACTGTGGTGAAATCAGAGG -3'
(R):5'- CCAGTAGTGCAGTTTCAAAGG -3'
Sequencing Primer
(F):5'- ATTCTTTGTACATCTCCAAT -3'
(R):5'- GTGCAGTTTCAAAGGAGCTTACC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation