Incidental Mutation 'IGL02604:Vps35'
| ID |
300202 |
| 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 # |
IGL02604
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85987014-86026146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86013018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 153
(L153P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034131]
|
| AlphaFold |
Q9EQH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034131
AA Change: L153P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034131
Gene: ENSMUSG00000031696
AA Change: L153P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps35
|
15 |
753 |
6.8e-303 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209228
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211479
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
C |
17: 35,878,845 (GRCm39) |
V61A |
probably benign |
Het |
| Arfgef1 |
G |
A |
1: 10,251,275 (GRCm39) |
|
probably benign |
Het |
| Arhgef4 |
T |
A |
1: 34,850,804 (GRCm39) |
L594* |
probably null |
Het |
| Cacna2d3 |
T |
C |
14: 29,015,066 (GRCm39) |
T375A |
possibly damaging |
Het |
| Calb2 |
A |
C |
8: 110,875,160 (GRCm39) |
Y155D |
probably damaging |
Het |
| Camkmt |
A |
G |
17: 85,404,053 (GRCm39) |
T92A |
possibly damaging |
Het |
| Cfap91 |
A |
G |
16: 38,141,921 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,542,187 (GRCm39) |
S442G |
probably benign |
Het |
| Cyp4f13 |
T |
C |
17: 33,151,395 (GRCm39) |
I173V |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,896,134 (GRCm39) |
T741A |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,428,252 (GRCm39) |
I866T |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,474,778 (GRCm39) |
I138F |
possibly damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,655,626 (GRCm39) |
|
probably benign |
Het |
| Fsbp |
A |
G |
4: 11,584,147 (GRCm39) |
E282G |
probably damaging |
Het |
| Hpgds |
A |
T |
6: 65,100,594 (GRCm39) |
L128Q |
probably damaging |
Het |
| Hspa9 |
A |
G |
18: 35,087,266 (GRCm39) |
V13A |
unknown |
Het |
| Itgb3 |
A |
G |
11: 104,553,269 (GRCm39) |
E709G |
probably damaging |
Het |
| Jarid2 |
T |
C |
13: 45,027,877 (GRCm39) |
S148P |
probably damaging |
Het |
| Kcna6 |
C |
T |
6: 126,716,167 (GRCm39) |
G241R |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,408,941 (GRCm39) |
N1541K |
probably benign |
Het |
| Kel |
C |
A |
6: 41,664,516 (GRCm39) |
E640D |
probably damaging |
Het |
| Lcp1 |
A |
T |
14: 75,461,566 (GRCm39) |
I520F |
probably benign |
Het |
| Lgr4 |
A |
G |
2: 109,841,658 (GRCm39) |
I524V |
probably damaging |
Het |
| Mup20 |
A |
C |
4: 61,970,141 (GRCm39) |
Y139D |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,362 (GRCm39) |
|
probably null |
Het |
| Obox7 |
A |
G |
7: 14,399,293 (GRCm39) |
E173G |
probably benign |
Het |
| Or10a49 |
T |
A |
7: 108,467,857 (GRCm39) |
Y168F |
probably benign |
Het |
| Or2a25 |
T |
A |
6: 42,888,992 (GRCm39) |
C178* |
probably null |
Het |
| Or5w22 |
A |
T |
2: 87,362,949 (GRCm39) |
T191S |
probably damaging |
Het |
| Or8b40 |
C |
T |
9: 38,027,148 (GRCm39) |
Q19* |
probably null |
Het |
| Or9i1 |
T |
A |
19: 13,839,170 (GRCm39) |
N4K |
probably benign |
Het |
| Patl2 |
T |
G |
2: 121,955,814 (GRCm39) |
T241P |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plekhg6 |
T |
C |
6: 125,354,342 (GRCm39) |
|
probably benign |
Het |
| Pon1 |
C |
A |
6: 5,168,375 (GRCm39) |
G344V |
probably damaging |
Het |
| Ppp1r21 |
G |
T |
17: 88,880,171 (GRCm39) |
K529N |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,623,142 (GRCm39) |
S203P |
probably benign |
Het |
| Psmc2 |
T |
A |
5: 22,000,098 (GRCm39) |
|
probably null |
Het |
| Ptn |
T |
C |
6: 36,692,653 (GRCm39) |
M166V |
unknown |
Het |
| Ptpn13 |
A |
G |
5: 103,649,769 (GRCm39) |
N391D |
probably benign |
Het |
| Rnf214 |
A |
G |
9: 45,780,841 (GRCm39) |
S383P |
probably damaging |
Het |
| Rufy4 |
T |
A |
1: 74,173,348 (GRCm39) |
L438H |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,621,608 (GRCm39) |
T353A |
probably damaging |
Het |
| Serpinb9e |
A |
C |
13: 33,441,742 (GRCm39) |
I225L |
probably benign |
Het |
| Slc25a40 |
T |
C |
5: 8,503,219 (GRCm39) |
V312A |
probably benign |
Het |
| Tmc3 |
A |
G |
7: 83,271,827 (GRCm39) |
Y993C |
possibly damaging |
Het |
| Trim56 |
A |
C |
5: 137,141,930 (GRCm39) |
C529G |
probably damaging |
Het |
| Trim8 |
T |
C |
19: 46,503,917 (GRCm39) |
S490P |
probably damaging |
Het |
| Trmt6 |
A |
T |
2: 132,652,357 (GRCm39) |
Y147* |
probably null |
Het |
| Vmn2r109 |
T |
A |
17: 20,760,963 (GRCm39) |
H798L |
probably damaging |
Het |
| Wdr82 |
T |
C |
9: 106,060,880 (GRCm39) |
I131T |
probably damaging |
Het |
| Zfp69 |
A |
T |
4: 120,788,660 (GRCm39) |
D218E |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation