Incidental Mutation 'R1307:Bcl2a1b'
| ID |
157834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl2a1b
|
| Ensembl Gene |
ENSMUSG00000089929 |
| Gene Name |
B cell leukemia/lymphoma 2 related protein A1b |
| Synonyms |
A1-b |
| MMRRC Submission |
039373-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R1307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
89081326-89089891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89081543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 44
(V44A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068569]
|
| AlphaFold |
Q497M6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068569
AA Change: V44A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065612
Gene: ENSMUSG00000089929
AA Change: V44A
| Domain | Start | End | E-Value | Type |
|---|
|
BCL
|
37 |
140 |
5.55e-40 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138109
AA Change: V37A
|
| SMART Domains |
Protein: ENSMUSP00000119881
Gene: ENSMUSG00000100838
AA Change: V37A
| Domain | Start | End | E-Value | Type |
|---|
|
BCL
|
31 |
134 |
5.55e-40 |
SMART |
|
PDB:3HY6|A
|
135 |
221 |
4e-49 |
PDB |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 91.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc1 |
A |
T |
10: 59,848,321 (GRCm39) |
I83L |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,186,271 (GRCm39) |
D1727G |
possibly damaging |
Het |
| Cabp1 |
A |
G |
5: 115,310,965 (GRCm39) |
F294L |
probably damaging |
Het |
| Coq8b |
T |
A |
7: 26,950,016 (GRCm39) |
M365K |
probably damaging |
Het |
| Gk2 |
A |
T |
5: 97,603,268 (GRCm39) |
D523E |
probably benign |
Het |
| Havcr1 |
C |
T |
11: 46,647,097 (GRCm39) |
T177I |
probably damaging |
Het |
| Kdm4a |
T |
C |
4: 118,032,839 (GRCm39) |
T76A |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,946,028 (GRCm39) |
I804F |
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,336,314 (GRCm39) |
N876S |
probably benign |
Het |
| Polr3f |
T |
C |
2: 144,375,113 (GRCm39) |
V95A |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,163,895 (GRCm39) |
V389A |
probably benign |
Het |
| Rhof |
T |
C |
5: 123,258,378 (GRCm39) |
E151G |
probably damaging |
Het |
| Slc25a28 |
T |
C |
19: 43,655,470 (GRCm39) |
N135S |
probably benign |
Het |
| Sphk1 |
G |
A |
11: 116,426,928 (GRCm39) |
V295I |
probably benign |
Het |
| Sv2b |
G |
T |
7: 74,856,182 (GRCm39) |
T36K |
probably damaging |
Het |
| Sybu |
T |
C |
15: 44,538,786 (GRCm39) |
E291G |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,927,096 (GRCm39) |
E810G |
probably damaging |
Het |
| Uba52 |
T |
C |
8: 70,961,166 (GRCm39) |
H68R |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,036,335 (GRCm39) |
N552S |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,090,164 (GRCm39) |
C416R |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,184,037 (GRCm39) |
V1447A |
probably damaging |
Het |
| Zfp985 |
C |
T |
4: 147,667,704 (GRCm39) |
L191F |
probably benign |
Het |
|
| Other mutations in Bcl2a1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0379:Bcl2a1b
|
UTSW |
9 |
89,081,789 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2402:Bcl2a1b
|
UTSW |
9 |
89,081,795 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4898:Bcl2a1b
|
UTSW |
9 |
89,081,713 (GRCm39) |
nonsense |
probably null |
|
|
R5098:Bcl2a1b
|
UTSW |
9 |
89,081,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5710:Bcl2a1b
|
UTSW |
9 |
89,081,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6594:Bcl2a1b
|
UTSW |
9 |
89,089,647 (GRCm39) |
missense |
probably benign |
|
|
R7059:Bcl2a1b
|
UTSW |
9 |
89,081,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9657:Bcl2a1b
|
UTSW |
9 |
89,081,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
W0251:Bcl2a1b
|
UTSW |
9 |
89,081,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACGCTGTGACATGATGCAAAC -3'
(R):5'- GTAAGCACCTACATCCAGGGCAATC -3'
Sequencing Primer
(F):5'- GCCTCCAGATATGATTAGGGTTCC -3'
(R):5'- CAATCTGCTCTTGCGGAAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation