Incidental Mutation 'R3011:Vps72'
| ID |
257501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps72
|
| Ensembl Gene |
ENSMUSG00000008958 |
| Gene Name |
vacuolar protein sorting 72 |
| Synonyms |
Tcfl1, YL-1 |
| MMRRC Submission |
040533-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3011 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95018353-95030362 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95026585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 177
(K177E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009102
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009102]
|
| AlphaFold |
Q62481 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009102
AA Change: K177E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000009102
Gene: ENSMUSG00000008958
AA Change: K177E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:YL1
|
5 |
216 |
5.1e-58 |
PFAM |
|
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
|
YL1_C
|
294 |
323 |
5.99e-9 |
SMART |
|
low complexity region
|
335 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152333
|
| Meta Mutation Damage Score |
0.1032 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (29/29) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a shared subunit of two multi-component complexes, the histone acetyltransferase complex TRRAP/TIP60 as well as the chromatin remodeling SRCAP-containing complex. The TRRAP/TIP60 complex acetylates nucleosomal histones important for transcriptional regulation, double strand DNA break repair and apoptosis. The SRCAP-containing complex catalyzes the exchange of histone H2A with the histone variant Htz1 (H2AFZ) into nucleosomes. This protein may be responsible for binding H2AFZ, which has a role in chromosome segregation. This protein may also have a role in regulating long-term hematopoietic stem cell activity. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
C |
16: 38,422,269 (GRCm39) |
C1266G |
possibly damaging |
Het |
| Brme1 |
C |
A |
8: 84,893,539 (GRCm39) |
Y235* |
probably null |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,730,581 (GRCm39) |
T905M |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,428,975 (GRCm39) |
N469S |
probably benign |
Het |
| Commd3 |
T |
A |
2: 18,679,499 (GRCm39) |
V128D |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,088,695 (GRCm39) |
T253A |
probably damaging |
Het |
| Dnajc5b |
A |
T |
3: 19,600,966 (GRCm39) |
Y21F |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,373,720 (GRCm39) |
L660Q |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,200,786 (GRCm39) |
D244G |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,534,047 (GRCm39) |
D312G |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,579,217 (GRCm39) |
S543G |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,604,262 (GRCm39) |
I50N |
probably damaging |
Het |
| Lct |
C |
T |
1: 128,229,109 (GRCm39) |
V795I |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,929 (GRCm39) |
T504S |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,453,771 (GRCm39) |
D887G |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,846 (GRCm39) |
D66V |
possibly damaging |
Het |
| Nqo1 |
C |
T |
8: 108,115,743 (GRCm39) |
R178H |
probably benign |
Het |
| Or13e8 |
G |
T |
4: 43,696,624 (GRCm39) |
A183E |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
| Otof |
G |
A |
5: 30,540,184 (GRCm39) |
A999V |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,129,946 (GRCm39) |
D506G |
probably benign |
Het |
| Pth2r |
C |
T |
1: 65,376,147 (GRCm39) |
H97Y |
probably benign |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Srgap2 |
T |
A |
1: 131,238,329 (GRCm39) |
Q520L |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tlr4 |
A |
T |
4: 66,757,491 (GRCm39) |
K95* |
probably null |
Het |
| Tmem59l |
A |
T |
8: 70,938,887 (GRCm39) |
C96S |
probably damaging |
Het |
| Tmtc3 |
G |
T |
10: 100,283,444 (GRCm39) |
P704T |
possibly damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
|
| Other mutations in Vps72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02051:Vps72
|
APN |
3 |
95,030,040 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02802:Vps72
|
UTSW |
3 |
95,026,545 (GRCm39) |
nonsense |
probably null |
|
|
R0135:Vps72
|
UTSW |
3 |
95,026,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0197:Vps72
|
UTSW |
3 |
95,029,894 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0463:Vps72
|
UTSW |
3 |
95,028,615 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0883:Vps72
|
UTSW |
3 |
95,029,894 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1101:Vps72
|
UTSW |
3 |
95,026,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Vps72
|
UTSW |
3 |
95,026,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Vps72
|
UTSW |
3 |
95,026,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1839:Vps72
|
UTSW |
3 |
95,026,529 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1935:Vps72
|
UTSW |
3 |
95,029,851 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1936:Vps72
|
UTSW |
3 |
95,029,851 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4877:Vps72
|
UTSW |
3 |
95,025,498 (GRCm39) |
intron |
probably benign |
|
|
RF018:Vps72
|
UTSW |
3 |
95,028,719 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAATTCAGAGCTTTCTTCCCATC -3'
(R):5'- GTGTTTCAAGACAAAGCCCC -3'
Sequencing Primer
(F):5'- ATCTCACTATCTGCAGGCCG -3'
(R):5'- AAAGCCCCTTCTACAGAGTCTTGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation