Incidental Mutation 'R8462:Vps45'
| ID |
656598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps45
|
| Ensembl Gene |
ENSMUSG00000015747 |
| Gene Name |
vacuolar protein sorting 45 |
| Synonyms |
mVps45 |
| MMRRC Submission |
067906-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.899)
|
| Stock # |
R8462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95907144-95965778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95941091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 383
(D383E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015891]
|
| AlphaFold |
P97390 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015891
AA Change: D383E
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: D383E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
23 |
546 |
3e-119 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (40/40) |
| 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 is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
T |
C |
6: 65,930,074 (GRCm39) |
V103A |
possibly damaging |
Het |
| Abcb11 |
T |
C |
2: 69,104,499 (GRCm39) |
N729S |
probably benign |
Het |
| Ap2a2 |
T |
A |
7: 141,210,394 (GRCm39) |
N883K |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,749,579 (GRCm39) |
I464T |
probably benign |
Het |
| Atrn |
T |
A |
2: 130,777,504 (GRCm39) |
H184Q |
probably damaging |
Het |
| Bmp5 |
A |
G |
9: 75,746,874 (GRCm39) |
D244G |
probably benign |
Het |
| Celsr2 |
C |
A |
3: 108,320,167 (GRCm39) |
E882* |
probably null |
Het |
| Cfap58 |
T |
A |
19: 47,972,089 (GRCm39) |
V673E |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,706,130 (GRCm39) |
N1155S |
probably benign |
Het |
| Colgalt2 |
C |
A |
1: 152,378,823 (GRCm39) |
H416Q |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,561,404 (GRCm39) |
L230F |
probably benign |
Het |
| Dixdc1 |
G |
T |
9: 50,622,079 (GRCm39) |
S84* |
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,875,603 (GRCm39) |
D475G |
probably damaging |
Het |
| Egr2 |
T |
A |
10: 67,374,173 (GRCm39) |
N54K |
probably null |
Het |
| Grm3 |
T |
C |
5: 9,562,365 (GRCm39) |
D495G |
probably benign |
Het |
| Kif1b |
G |
A |
4: 149,266,797 (GRCm39) |
T1629I |
probably benign |
Het |
| Klf2 |
A |
T |
8: 73,073,373 (GRCm39) |
N59I |
probably benign |
Het |
| Krt86 |
T |
C |
15: 101,377,284 (GRCm39) |
V436A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,615,680 (GRCm39) |
V838A |
probably benign |
Het |
| Ltbp1 |
T |
C |
17: 75,620,069 (GRCm39) |
S786P |
probably damaging |
Het |
| Matk |
C |
G |
10: 81,097,859 (GRCm39) |
R315G |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,290,666 (GRCm39) |
V249A |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,090,654 (GRCm39) |
R273G |
probably benign |
Het |
| Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,446,189 (GRCm39) |
|
probably null |
Het |
| Pitpnm1 |
A |
T |
19: 4,155,135 (GRCm39) |
H321L |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,367,130 (GRCm39) |
Y170C |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,303 (GRCm39) |
D2197G |
possibly damaging |
Het |
| Rmdn2 |
C |
T |
17: 79,978,053 (GRCm39) |
T338M |
probably damaging |
Het |
| Rps10 |
A |
G |
17: 27,853,208 (GRCm39) |
S54P |
probably damaging |
Het |
| S100a11 |
T |
C |
3: 93,433,422 (GRCm39) |
S89P |
probably benign |
Het |
| Sh3yl1 |
T |
C |
12: 30,992,072 (GRCm39) |
Y176H |
probably damaging |
Het |
| Sppl2c |
G |
T |
11: 104,077,532 (GRCm39) |
A111S |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,803,598 (GRCm39) |
E317G |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,076,324 (GRCm39) |
E425G |
probably damaging |
Het |
| Stxbp1 |
C |
T |
2: 32,707,293 (GRCm39) |
|
probably null |
Het |
| Traf6 |
G |
A |
2: 101,527,801 (GRCm39) |
R517Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,387 (GRCm39) |
V295A |
probably damaging |
Het |
| Zfp984 |
A |
G |
4: 147,839,796 (GRCm39) |
C352R |
probably damaging |
Het |
|
| Other mutations in Vps45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00585:Vps45
|
APN |
3 |
95,907,378 (GRCm39) |
makesense |
probably null |
|
|
IGL00848:Vps45
|
APN |
3 |
95,964,285 (GRCm39) |
splice site |
probably benign |
|
|
IGL00915:Vps45
|
APN |
3 |
95,953,662 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02143:Vps45
|
APN |
3 |
95,926,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02143:Vps45
|
APN |
3 |
95,941,133 (GRCm39) |
missense |
probably benign |
|
|
IGL02247:Vps45
|
APN |
3 |
95,950,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02598:Vps45
|
APN |
3 |
95,938,354 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03409:Vps45
|
APN |
3 |
95,960,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0943:Vps45
|
UTSW |
3 |
95,964,336 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1102:Vps45
|
UTSW |
3 |
95,950,253 (GRCm39) |
splice site |
probably benign |
|
|
R1540:Vps45
|
UTSW |
3 |
95,955,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Vps45
|
UTSW |
3 |
95,954,557 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1919:Vps45
|
UTSW |
3 |
95,953,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2113:Vps45
|
UTSW |
3 |
95,954,365 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2251:Vps45
|
UTSW |
3 |
95,964,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2511:Vps45
|
UTSW |
3 |
95,948,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4752:Vps45
|
UTSW |
3 |
95,955,699 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4806:Vps45
|
UTSW |
3 |
95,953,725 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4914:Vps45
|
UTSW |
3 |
95,926,943 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4915:Vps45
|
UTSW |
3 |
95,926,943 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4917:Vps45
|
UTSW |
3 |
95,926,943 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5180:Vps45
|
UTSW |
3 |
95,953,683 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5288:Vps45
|
UTSW |
3 |
95,965,086 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5454:Vps45
|
UTSW |
3 |
95,926,969 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6397:Vps45
|
UTSW |
3 |
95,950,164 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7247:Vps45
|
UTSW |
3 |
95,948,717 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7449:Vps45
|
UTSW |
3 |
95,954,448 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7460:Vps45
|
UTSW |
3 |
95,955,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7795:Vps45
|
UTSW |
3 |
95,926,936 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8490:Vps45
|
UTSW |
3 |
95,948,661 (GRCm39) |
missense |
probably benign |
|
|
R9076:Vps45
|
UTSW |
3 |
95,960,345 (GRCm39) |
splice site |
probably benign |
|
|
R9081:Vps45
|
UTSW |
3 |
95,940,125 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9358:Vps45
|
UTSW |
3 |
95,940,976 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9475:Vps45
|
UTSW |
3 |
95,950,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Vps45
|
UTSW |
3 |
95,940,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTGGGAAAGAATTTTAGCAAC -3'
(R):5'- AAACGGTGGCTGACTCCATC -3'
Sequencing Primer
(F):5'- CACATGGCAGTAATCGTAGCATCTG -3'
(R):5'- CCTACGGCTATTACATGGGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation