Incidental Mutation 'IGL00537:Bcap29'
| ID |
4428 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bcap29
|
| Ensembl Gene |
ENSMUSG00000020650 |
| Gene Name |
B cell receptor associated protein 29 |
| Synonyms |
Bap29 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
IGL00537
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
31645353-31684657 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 31667095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 189
(E189*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020979]
[ENSMUST00000177962]
|
| AlphaFold |
Q61334 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020979
AA Change: E189*
|
| SMART Domains |
Protein: ENSMUSP00000020979
Gene: ENSMUSG00000020650
AA Change: E189*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bap31
|
1 |
219 |
9.2e-62 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177962
AA Change: E189*
|
| SMART Domains |
Protein: ENSMUSP00000137260
Gene: ENSMUSG00000020650
AA Change: E189*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bap31
|
1 |
219 |
4.3e-70 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Chd5 |
T |
C |
4: 152,445,059 (GRCm39) |
Y347H |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,000,150 (GRCm39) |
N116K |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,458,848 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
C |
A |
11: 30,889,591 (GRCm39) |
V185L |
probably benign |
Het |
| Glb1l3 |
T |
A |
9: 26,740,346 (GRCm39) |
Y328F |
probably damaging |
Het |
| Gnao1 |
G |
A |
8: 94,538,308 (GRCm39) |
V50M |
probably damaging |
Het |
| Mcpt4 |
T |
C |
14: 56,298,487 (GRCm39) |
T83A |
probably benign |
Het |
| Mefv |
T |
C |
16: 3,528,824 (GRCm39) |
Y539C |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,455,388 (GRCm39) |
I4050F |
possibly damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,363,443 (GRCm39) |
T621M |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,546,383 (GRCm39) |
S304P |
probably benign |
Het |
| Rptor |
C |
T |
11: 119,690,271 (GRCm39) |
P372L |
possibly damaging |
Het |
| Soat1 |
A |
T |
1: 156,294,300 (GRCm39) |
N13K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,657,409 (GRCm39) |
T1787S |
probably benign |
Het |
| Wfdc12 |
A |
T |
2: 164,032,387 (GRCm39) |
L18Q |
probably null |
Het |
| Zfp955b |
T |
C |
17: 33,521,847 (GRCm39) |
F439L |
probably damaging |
Het |
| Zmym4 |
G |
A |
4: 126,783,851 (GRCm39) |
S1125L |
probably benign |
Het |
|
| Other mutations in Bcap29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Bcap29
|
APN |
12 |
31,680,871 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1328:Bcap29
|
UTSW |
12 |
31,680,807 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1735:Bcap29
|
UTSW |
12 |
31,680,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3703:Bcap29
|
UTSW |
12 |
31,667,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3704:Bcap29
|
UTSW |
12 |
31,667,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3705:Bcap29
|
UTSW |
12 |
31,667,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3871:Bcap29
|
UTSW |
12 |
31,667,080 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4628:Bcap29
|
UTSW |
12 |
31,676,806 (GRCm39) |
missense |
probably benign |
|
|
R4832:Bcap29
|
UTSW |
12 |
31,674,202 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7399:Bcap29
|
UTSW |
12 |
31,680,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8942:Bcap29
|
UTSW |
12 |
31,684,353 (GRCm39) |
start codon destroyed |
probably damaging |
0.99 |
|
R9515:Bcap29
|
UTSW |
12 |
31,676,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation