Incidental Mutation 'R7547:Vps35'
| ID |
584261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps35
|
| Ensembl Gene |
ENSMUSG00000031696 |
| Gene Name |
VPS35 retromer complex component |
| Synonyms |
Mem3 |
| MMRRC Submission |
045618-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7547 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85987014-86026146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85989999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 670
(V670M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034131]
|
| AlphaFold |
Q9EQH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034131
AA Change: V670M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696
AA Change: V670M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps35
|
15 |
753 |
6.8e-303 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,109,269 (GRCm39) |
D146E |
probably benign |
Het |
| Adgrl1 |
C |
T |
8: 84,665,513 (GRCm39) |
A1400V |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,738,852 (GRCm39) |
V2344A |
unknown |
Het |
| Anxa2r2 |
A |
T |
13: 120,488,457 (GRCm39) |
F31I |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 84,967,521 (GRCm39) |
D182V |
probably damaging |
Het |
| Asb4 |
C |
T |
6: 5,398,350 (GRCm39) |
P105L |
probably damaging |
Het |
| Ate1 |
C |
A |
7: 130,106,539 (GRCm39) |
R274I |
probably benign |
Het |
| Ccdc43 |
A |
G |
11: 102,582,948 (GRCm39) |
V92A |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,654,290 (GRCm39) |
N548I |
possibly damaging |
Het |
| Clpb |
A |
G |
7: 101,313,503 (GRCm39) |
|
probably null |
Het |
| Ctnnal1 |
G |
A |
4: 56,817,032 (GRCm39) |
R597C |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,263,434 (GRCm39) |
K3234R |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,702,996 (GRCm39) |
K151N |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,253,573 (GRCm39) |
I1826K |
possibly damaging |
Het |
| Dnttip1 |
A |
G |
2: 164,609,799 (GRCm39) |
K289E |
probably benign |
Het |
| Eppk1 |
G |
T |
15: 75,991,740 (GRCm39) |
Q1714K |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,816,056 (GRCm39) |
D674G |
possibly damaging |
Het |
| Galnt7 |
A |
T |
8: 58,036,996 (GRCm39) |
V131D |
possibly damaging |
Het |
| Glg1 |
C |
T |
8: 111,914,393 (GRCm39) |
V464M |
possibly damaging |
Het |
| Hlcs |
G |
T |
16: 94,032,031 (GRCm39) |
S444* |
probably null |
Het |
| Larp1 |
G |
T |
11: 57,943,405 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,335,410 (GRCm39) |
Y4386C |
probably damaging |
Het |
| Mapt |
A |
G |
11: 104,213,138 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
T |
2: 52,172,637 (GRCm39) |
V1557I |
probably benign |
Het |
| Nid2 |
A |
G |
14: 19,847,345 (GRCm39) |
T953A |
probably benign |
Het |
| Or5b105 |
T |
C |
19: 13,080,407 (GRCm39) |
D87G |
not run |
Het |
| Pax3 |
G |
A |
1: 78,099,231 (GRCm39) |
Q319* |
probably null |
Het |
| Ppp2r1b |
T |
A |
9: 50,773,762 (GRCm39) |
S212R |
probably benign |
Het |
| Prss29 |
T |
C |
17: 25,539,896 (GRCm39) |
L98P |
probably damaging |
Het |
| Ptch2 |
T |
G |
4: 116,967,161 (GRCm39) |
L646R |
probably damaging |
Het |
| Rasa2 |
T |
A |
9: 96,493,474 (GRCm39) |
E70V |
probably damaging |
Het |
| Serf2 |
A |
G |
2: 121,281,256 (GRCm39) |
N65S |
possibly damaging |
Het |
| Serpinb6b |
G |
A |
13: 33,158,907 (GRCm39) |
G155D |
probably benign |
Het |
| Serpinb6c |
A |
G |
13: 34,077,875 (GRCm39) |
I165T |
possibly damaging |
Het |
| Skint5 |
A |
T |
4: 113,483,785 (GRCm39) |
V949E |
unknown |
Het |
| Slc11a2 |
A |
G |
15: 100,295,651 (GRCm39) |
I490T |
possibly damaging |
Het |
| Slx4 |
T |
C |
16: 3,803,436 (GRCm39) |
D1126G |
probably benign |
Het |
| Tent4a |
G |
T |
13: 69,681,823 (GRCm39) |
P160Q |
probably benign |
Het |
| Tln1 |
G |
T |
4: 43,545,206 (GRCm39) |
A1003E |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trav21-dv12 |
T |
C |
14: 54,114,072 (GRCm39) |
V64A |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,361,402 (GRCm39) |
E620G |
possibly damaging |
Het |
| Usp3 |
T |
C |
9: 66,449,906 (GRCm39) |
N179S |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,784,108 (GRCm39) |
T3889A |
|
Het |
| Zfp626 |
T |
C |
7: 27,517,828 (GRCm39) |
S270P |
possibly damaging |
Het |
| Zfp955a |
C |
T |
17: 33,461,797 (GRCm39) |
V112M |
probably benign |
Het |
| Zranb2 |
T |
C |
3: 157,246,806 (GRCm39) |
S165P |
possibly damaging |
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 |
|
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 |
|
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'- GGTGAAATGCTAACATTAGGACCC -3'
(R):5'- TTGGACCATCTCATAGAATGGGG -3'
Sequencing Primer
(F):5'- GCTAACATTAGGACCCATTCATTTC -3'
(R):5'- CCATCTCATAGAATGGGGTTTGGAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation