Incidental Mutation 'R4322:Vps41'
| ID |
323883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps41
|
| Ensembl Gene |
ENSMUSG00000041236 |
| Gene Name |
VPS41 HOPS complex subunit |
| Synonyms |
Vam2, mVam2 |
| MMRRC Submission |
041093-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4322 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
18901462-19050981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19007960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 264
(F264L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072961]
|
| AlphaFold |
Q5KU39 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072961
AA Change: F264L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072729
Gene: ENSMUSG00000041236
AA Change: F264L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
26 |
N/A |
INTRINSIC |
|
Blast:WD40
|
34 |
70 |
2e-7 |
BLAST |
|
SCOP:d1flga_
|
44 |
253 |
6e-9 |
SMART |
|
Blast:WD40
|
159 |
195 |
3e-11 |
BLAST |
|
CLH
|
570 |
711 |
1.92e-42 |
SMART |
|
RING
|
790 |
837 |
8.98e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222813
|
| Meta Mutation Damage Score |
0.5652 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
94% (48/51) |
| 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 encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele die by E9 exhibiting morphological and functional alteration of late endocytic compartments, and abnormal triploblastic development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt2 |
G |
A |
4: 154,751,701 (GRCm39) |
A145V |
probably damaging |
Het |
| Allc |
C |
A |
12: 28,604,023 (GRCm39) |
L353F |
probably benign |
Het |
| Alx3 |
C |
T |
3: 107,502,691 (GRCm39) |
P67L |
probably benign |
Het |
| Arhgef10l |
C |
A |
4: 140,270,037 (GRCm39) |
G882V |
probably benign |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,228,731 (GRCm39) |
N299I |
probably damaging |
Het |
| Ccdc80 |
G |
T |
16: 44,915,951 (GRCm39) |
V236L |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,881,534 (GRCm39) |
I1085L |
probably benign |
Het |
| Csn2 |
C |
T |
5: 87,845,886 (GRCm39) |
|
probably null |
Het |
| Dnajb14 |
G |
A |
3: 137,591,060 (GRCm39) |
G54S |
probably damaging |
Het |
| Fyb1 |
T |
A |
15: 6,610,300 (GRCm39) |
L291Q |
possibly damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm12250 |
G |
A |
11: 58,079,126 (GRCm39) |
|
noncoding transcript |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
C |
16: 22,898,270 (GRCm39) |
M557L |
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,367,707 (GRCm39) |
F83S |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,292,724 (GRCm39) |
E192G |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,256,335 (GRCm39) |
E4602* |
probably null |
Het |
| Mc4r |
T |
C |
18: 66,992,121 (GRCm39) |
R331G |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,954,306 (GRCm39) |
D393G |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or4c10b |
A |
G |
2: 89,712,078 (GRCm39) |
K303E |
probably benign |
Het |
| Or5p69 |
C |
T |
7: 107,967,555 (GRCm39) |
P286L |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Pot1a |
T |
C |
6: 25,745,929 (GRCm39) |
T591A |
probably benign |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,244,464 (GRCm39) |
H310L |
probably damaging |
Het |
| Shld2 |
G |
T |
14: 33,981,632 (GRCm39) |
T502K |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,705,711 (GRCm39) |
K238E |
probably damaging |
Het |
| Ssc5d |
C |
T |
7: 4,931,449 (GRCm39) |
R219C |
probably damaging |
Het |
| Them5 |
C |
A |
3: 94,253,463 (GRCm39) |
H158N |
probably damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,408 (GRCm39) |
N63I |
probably damaging |
Het |
| Vtn |
A |
T |
11: 78,390,916 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vps41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01134:Vps41
|
APN |
13 |
19,050,320 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01563:Vps41
|
APN |
13 |
18,966,897 (GRCm39) |
splice site |
probably benign |
|
|
IGL01880:Vps41
|
APN |
13 |
18,994,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02024:Vps41
|
APN |
13 |
18,975,827 (GRCm39) |
splice site |
probably benign |
|
|
IGL02458:Vps41
|
APN |
13 |
19,037,649 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02740:Vps41
|
APN |
13 |
19,022,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03218:Vps41
|
APN |
13 |
19,013,440 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0197:Vps41
|
UTSW |
13 |
19,038,833 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0284:Vps41
|
UTSW |
13 |
19,037,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0321:Vps41
|
UTSW |
13 |
19,026,465 (GRCm39) |
splice site |
probably benign |
|
|
R0372:Vps41
|
UTSW |
13 |
19,026,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0382:Vps41
|
UTSW |
13 |
19,011,897 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1691:Vps41
|
UTSW |
13 |
19,025,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2055:Vps41
|
UTSW |
13 |
19,038,786 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2082:Vps41
|
UTSW |
13 |
19,036,521 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2147:Vps41
|
UTSW |
13 |
19,023,904 (GRCm39) |
splice site |
probably null |
|
|
R2897:Vps41
|
UTSW |
13 |
18,994,598 (GRCm39) |
splice site |
probably benign |
|
|
R4600:Vps41
|
UTSW |
13 |
18,929,453 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4751:Vps41
|
UTSW |
13 |
18,995,792 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4856:Vps41
|
UTSW |
13 |
19,013,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5389:Vps41
|
UTSW |
13 |
19,046,708 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7022:Vps41
|
UTSW |
13 |
19,026,438 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7456:Vps41
|
UTSW |
13 |
19,048,204 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7747:Vps41
|
UTSW |
13 |
19,025,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7790:Vps41
|
UTSW |
13 |
19,026,438 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8029:Vps41
|
UTSW |
13 |
19,007,955 (GRCm39) |
nonsense |
probably null |
|
|
R8033:Vps41
|
UTSW |
13 |
18,994,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8241:Vps41
|
UTSW |
13 |
19,033,168 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8267:Vps41
|
UTSW |
13 |
18,994,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8801:Vps41
|
UTSW |
13 |
18,998,403 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8927:Vps41
|
UTSW |
13 |
18,929,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8928:Vps41
|
UTSW |
13 |
18,929,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9029:Vps41
|
UTSW |
13 |
18,994,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9057:Vps41
|
UTSW |
13 |
19,027,702 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9066:Vps41
|
UTSW |
13 |
19,008,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9113:Vps41
|
UTSW |
13 |
19,023,883 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9129:Vps41
|
UTSW |
13 |
19,011,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9282:Vps41
|
UTSW |
13 |
19,013,401 (GRCm39) |
nonsense |
probably null |
|
|
R9391:Vps41
|
UTSW |
13 |
18,994,616 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9478:Vps41
|
UTSW |
13 |
19,046,913 (GRCm39) |
missense |
|
|
|
R9569:Vps41
|
UTSW |
13 |
19,013,396 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Vps41
|
UTSW |
13 |
19,038,765 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Vps41
|
UTSW |
13 |
19,030,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCATGGTGAAAGTACTTTAAC -3'
(R):5'- TAGCAATCTCCCCTGACAGG -3'
Sequencing Primer
(F):5'- TGAGACACACTACAGCGCATATTTAG -3'
(R):5'- TCCCCTGACAGGCAGCC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation