Incidental Mutation 'R0644:Vps26c'
| ID |
57018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vps26c
|
| Ensembl Gene |
ENSMUSG00000022898 |
| Gene Name |
VPS26 endosomal protein sorting factor C |
| Synonyms |
Dscr3, Down syndrome critical region gene 3, Dcra |
| MMRRC Submission |
038829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R0644 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
94298583-94327488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94303054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 182
(L182P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023615]
[ENSMUST00000125229]
|
| AlphaFold |
O35075 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023615
AA Change: L182P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023615
Gene: ENSMUSG00000022898
AA Change: L182P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps26
|
3 |
283 |
2.5e-79 |
PFAM |
|
Pfam:Arrestin_N
|
5 |
144 |
9.7e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232569
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
T |
9: 44,185,996 (GRCm39) |
I625N |
possibly damaging |
Het |
| Accs |
A |
G |
2: 93,669,574 (GRCm39) |
L282P |
probably damaging |
Het |
| Acsbg1 |
T |
A |
9: 54,517,110 (GRCm39) |
I568F |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp5po |
A |
T |
16: 91,723,372 (GRCm39) |
V73E |
probably damaging |
Het |
| Bcl9 |
T |
C |
3: 97,117,813 (GRCm39) |
S294G |
probably benign |
Het |
| C2cd5 |
A |
T |
6: 142,958,950 (GRCm39) |
M1003K |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,825,523 (GRCm39) |
|
probably null |
Het |
| Dera |
A |
T |
6: 137,760,046 (GRCm39) |
T165S |
probably benign |
Het |
| Elf2 |
C |
T |
3: 51,215,552 (GRCm39) |
V53M |
probably damaging |
Het |
| Entpd5 |
A |
T |
12: 84,432,915 (GRCm39) |
F212L |
probably benign |
Het |
| Fndc3c1 |
T |
A |
X: 105,478,568 (GRCm39) |
T761S |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,241 (GRCm39) |
T1187A |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,187,533 (GRCm39) |
S95P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,122 (GRCm39) |
|
probably null |
Het |
| Impdh2 |
G |
T |
9: 108,440,836 (GRCm39) |
V112L |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,329,868 (GRCm39) |
M81L |
probably damaging |
Het |
| Lactb |
T |
C |
9: 66,863,172 (GRCm39) |
R481G |
possibly damaging |
Het |
| Nacad |
C |
T |
11: 6,549,486 (GRCm39) |
C1235Y |
possibly damaging |
Het |
| Or5d37 |
T |
A |
2: 87,923,633 (GRCm39) |
M216L |
probably benign |
Het |
| Or5h26 |
G |
A |
16: 58,987,979 (GRCm39) |
H176Y |
probably damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,425,184 (GRCm39) |
R878C |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
| Rab27a |
T |
A |
9: 73,002,705 (GRCm39) |
S211R |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,363,405 (GRCm39) |
|
probably null |
Het |
| Shank2 |
T |
C |
7: 143,965,586 (GRCm39) |
S1065P |
probably benign |
Het |
| Tent5d |
T |
C |
X: 106,914,251 (GRCm39) |
F111S |
probably damaging |
Het |
| Tgm4 |
A |
T |
9: 122,880,523 (GRCm39) |
D308V |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,259,056 (GRCm39) |
I412T |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,487,656 (GRCm39) |
V777A |
probably benign |
Het |
|
| Other mutations in Vps26c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02197:Vps26c
|
APN |
16 |
94,302,549 (GRCm39) |
splice site |
probably benign |
|
|
R1256:Vps26c
|
UTSW |
16 |
94,313,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1973:Vps26c
|
UTSW |
16 |
94,302,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2286:Vps26c
|
UTSW |
16 |
94,313,112 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3854:Vps26c
|
UTSW |
16 |
94,311,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3855:Vps26c
|
UTSW |
16 |
94,311,665 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5067:Vps26c
|
UTSW |
16 |
94,327,263 (GRCm39) |
unclassified |
probably benign |
|
|
R7578:Vps26c
|
UTSW |
16 |
94,299,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7956:Vps26c
|
UTSW |
16 |
94,302,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Vps26c
|
UTSW |
16 |
94,302,481 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGTGCCCTGCCATGTTAAGAG -3'
(R):5'- AGCTGTGATGTCCGTTTGTCCC -3'
Sequencing Primer
(F):5'- GTACAggaaggggtgttttagc -3'
(R):5'- GATGTCCGTTTGTCCCTAATATG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation