Incidental Mutation 'IGL03326:Vps35'
| ID |
416648 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vps35
|
| Ensembl Gene |
ENSMUSG00000031696 |
| Gene Name |
VPS35 retromer complex component |
| Synonyms |
Mem3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03326
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85987014-86026146 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 86001526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 431
(E431*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034131]
|
| AlphaFold |
Q9EQH3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034131
AA Change: E431*
|
| SMART Domains |
Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696
AA Change: E431*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps35
|
15 |
753 |
6.8e-303 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209277
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,177,421 (GRCm39) |
S563P |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,170,985 (GRCm39) |
|
probably benign |
Het |
| Ampd2 |
T |
A |
3: 107,986,603 (GRCm39) |
Y227F |
probably benign |
Het |
| Cyp2c67 |
A |
T |
19: 39,631,713 (GRCm39) |
|
probably null |
Het |
| Gk5 |
G |
A |
9: 96,019,892 (GRCm39) |
|
probably null |
Het |
| Gm20422 |
T |
C |
8: 70,219,348 (GRCm39) |
T59A |
possibly damaging |
Het |
| Gria1 |
A |
T |
11: 57,208,599 (GRCm39) |
K831N |
probably damaging |
Het |
| Hspa5 |
C |
A |
2: 34,666,129 (GRCm39) |
|
probably benign |
Het |
| Igtp |
A |
G |
11: 58,097,054 (GRCm39) |
D75G |
probably benign |
Het |
| Jmjd8 |
T |
C |
17: 26,048,139 (GRCm39) |
|
probably null |
Het |
| Kcnh2 |
A |
T |
5: 24,531,411 (GRCm39) |
F158Y |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,730,044 (GRCm39) |
C456* |
probably null |
Het |
| Krtap5-2 |
A |
T |
7: 141,729,100 (GRCm39) |
C193* |
probably null |
Het |
| Mrpl2 |
T |
C |
17: 46,960,853 (GRCm39) |
V249A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,923,728 (GRCm39) |
I6433N |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,069 (GRCm39) |
F89L |
probably benign |
Het |
| Or5p63 |
T |
C |
7: 107,810,837 (GRCm39) |
I300V |
probably benign |
Het |
| Or5w14 |
A |
C |
2: 87,542,039 (GRCm39) |
D70E |
probably damaging |
Het |
| Plb1 |
C |
T |
5: 32,488,671 (GRCm39) |
T985I |
probably benign |
Het |
| Polr3b |
T |
C |
10: 84,503,259 (GRCm39) |
I392T |
probably benign |
Het |
| Ppp1r1c |
A |
T |
2: 79,638,727 (GRCm39) |
N107I |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,719,765 (GRCm39) |
R383Q |
probably damaging |
Het |
| Ptpre |
T |
C |
7: 135,274,546 (GRCm39) |
I499T |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,999,140 (GRCm39) |
I544T |
probably damaging |
Het |
| Rbm20 |
A |
T |
19: 53,802,431 (GRCm39) |
Q313L |
possibly damaging |
Het |
| Rnf38 |
A |
T |
4: 44,149,182 (GRCm39) |
I55N |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,997,354 (GRCm39) |
|
probably benign |
Het |
| Scube1 |
T |
C |
15: 83,491,617 (GRCm39) |
Y959C |
probably damaging |
Het |
| Selenow |
A |
G |
7: 15,654,051 (GRCm39) |
|
probably benign |
Het |
| Tbx5 |
T |
C |
5: 120,009,363 (GRCm39) |
Y291H |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,241,539 (GRCm39) |
M1022K |
possibly damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,182,952 (GRCm39) |
R249W |
probably damaging |
Het |
| Trim34a |
A |
G |
7: 103,910,587 (GRCm39) |
Q463R |
probably benign |
Het |
| Wdpcp |
T |
C |
11: 21,835,048 (GRCm39) |
C684R |
probably benign |
Het |
| Xirp2 |
G |
A |
2: 67,312,590 (GRCm39) |
V20I |
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 |
|
|
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 |
|
R2341:Vps35
|
UTSW |
8 |
86,001,443 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation