Incidental Mutation 'R1213:Cbx8'
| ID |
99489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cbx8
|
| Ensembl Gene |
ENSMUSG00000025578 |
| Gene Name |
chromobox 8 |
| Synonyms |
Pc3, polycomb 3 |
| MMRRC Submission |
039282-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1213 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
118929262-118931739 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 118930359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026663]
|
| AlphaFold |
Q9QXV1 |
| PDB Structure |
Solution Structure of RSGI RUH-055, a Chromo Domain from Mus musculus cDNA [SOLUTION NMR]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000026663
|
| SMART Domains |
Protein: ENSMUSP00000026663
Gene: ENSMUSG00000025578
| Domain | Start | End | E-Value | Type |
|---|
|
CHROMO
|
10 |
62 |
2.91e-18 |
SMART |
|
low complexity region
|
82 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143831
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.2%
- 20x: 87.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired MLL-AF9 transformation but are otherwise viable with normal hematopoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg1 |
T |
C |
1: 82,853,055 (GRCm39) |
S142P |
probably damaging |
Het |
| Appl1 |
G |
A |
14: 26,665,950 (GRCm39) |
A388V |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,892,859 (GRCm39) |
R70G |
probably benign |
Het |
| Atrnl1 |
G |
A |
19: 57,626,894 (GRCm39) |
V167I |
probably benign |
Het |
| Bfar |
T |
C |
16: 13,505,308 (GRCm39) |
I106T |
possibly damaging |
Het |
| Cd80 |
T |
C |
16: 38,294,245 (GRCm39) |
S43P |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,944,520 (GRCm39) |
A1138T |
probably benign |
Het |
| Fcgbpl1 |
T |
C |
7: 27,857,098 (GRCm39) |
S2149P |
probably damaging |
Het |
| Fmo3 |
C |
A |
1: 162,795,392 (GRCm39) |
G148W |
probably damaging |
Het |
| Ftdc2 |
A |
T |
16: 58,458,057 (GRCm39) |
Y81* |
probably null |
Het |
| Krt78 |
T |
C |
15: 101,860,245 (GRCm39) |
M224V |
probably benign |
Het |
| Moxd2 |
A |
G |
6: 40,868,831 (GRCm39) |
|
probably benign |
Het |
| Or13n4 |
T |
A |
7: 106,423,404 (GRCm39) |
T110S |
possibly damaging |
Het |
| Or2y14 |
T |
A |
11: 49,405,421 (GRCm39) |
*319K |
probably null |
Het |
| Or6d15 |
A |
G |
6: 116,559,827 (GRCm39) |
S27P |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,516,258 (GRCm39) |
G179R |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,939,412 (GRCm39) |
Q287* |
probably null |
Het |
| Rtel1 |
T |
A |
2: 180,993,128 (GRCm39) |
H703Q |
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,002,954 (GRCm39) |
R1893G |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,735,525 (GRCm39) |
V807A |
possibly damaging |
Het |
|
| Other mutations in Cbx8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1299:Cbx8
|
UTSW |
11 |
118,931,676 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4497:Cbx8
|
UTSW |
11 |
118,931,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5282:Cbx8
|
UTSW |
11 |
118,929,742 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5695:Cbx8
|
UTSW |
11 |
118,930,137 (GRCm39) |
missense |
probably benign |
|
|
R6237:Cbx8
|
UTSW |
11 |
118,931,213 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6400:Cbx8
|
UTSW |
11 |
118,929,694 (GRCm39) |
nonsense |
probably null |
|
|
R6980:Cbx8
|
UTSW |
11 |
118,930,287 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7697:Cbx8
|
UTSW |
11 |
118,931,637 (GRCm39) |
nonsense |
probably null |
|
|
R8428:Cbx8
|
UTSW |
11 |
118,929,754 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9013:Cbx8
|
UTSW |
11 |
118,929,649 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9553:Cbx8
|
UTSW |
11 |
118,930,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cbx8
|
UTSW |
11 |
118,929,945 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGAGCAAGCTGGATCACACTG -3'
(R):5'- AATGGCTTCTTCCAGACAAACCCTC -3'
Sequencing Primer
(F):5'- GAACTTTCCTGTCCCAGAAGAGG -3'
(R):5'- TCTTCCAGACAAACCCTCATTCC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation