Incidental Mutation 'IGL00433:Bfar'
| ID |
4008 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bfar
|
| Ensembl Gene |
ENSMUSG00000022684 |
| Gene Name |
bifunctional apoptosis regulator |
| Synonyms |
RNF47 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL00433
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
13489722-13521476 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 13516827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 350
(D350N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023365]
[ENSMUST00000069281]
[ENSMUST00000127973]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023365
AA Change: D350N
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684
AA Change: D350N
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
34 |
73 |
2.71e-6 |
SMART |
|
transmembrane domain
|
142 |
164 |
N/A |
INTRINSIC |
|
SAM
|
179 |
249 |
1.82e-6 |
SMART |
|
transmembrane domain
|
361 |
380 |
N/A |
INTRINSIC |
|
transmembrane domain
|
407 |
429 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069281
AA Change: D225N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000063371
Gene: ENSMUSG00000022684
AA Change: D225N
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
34 |
73 |
2.71e-6 |
SMART |
|
low complexity region
|
86 |
97 |
N/A |
INTRINSIC |
|
PDB:1V85|A
|
98 |
123 |
2e-8 |
PDB |
|
Blast:SAM
|
98 |
124 |
2e-8 |
BLAST |
|
transmembrane domain
|
236 |
255 |
N/A |
INTRINSIC |
|
transmembrane domain
|
282 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127973
|
| SMART Domains |
Protein: ENSMUSP00000115585
Gene: ENSMUSG00000022684
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
34 |
73 |
2.71e-6 |
SMART |
|
transmembrane domain
|
142 |
161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154568
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
A |
15: 94,292,522 (GRCm39) |
A196V |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,009,300 (GRCm39) |
V238A |
probably benign |
Het |
| C4b |
A |
T |
17: 34,961,015 (GRCm39) |
F217Y |
possibly damaging |
Het |
| Camk1g |
T |
C |
1: 193,029,657 (GRCm39) |
|
probably benign |
Het |
| Camkmt |
A |
G |
17: 85,404,094 (GRCm39) |
|
probably benign |
Het |
| Cass4 |
T |
C |
2: 172,258,170 (GRCm39) |
L56P |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,875,636 (GRCm39) |
I243T |
possibly damaging |
Het |
| Cds2 |
T |
C |
2: 132,139,213 (GRCm39) |
V152A |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,497,921 (GRCm39) |
N307D |
probably damaging |
Het |
| Cmtm2b |
T |
C |
8: 105,057,078 (GRCm39) |
I146T |
possibly damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,920,545 (GRCm39) |
Y608C |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,735,703 (GRCm39) |
R157G |
probably damaging |
Het |
| Csmd1 |
A |
C |
8: 16,281,387 (GRCm39) |
F713V |
probably damaging |
Het |
| Csrp3 |
T |
C |
7: 48,480,440 (GRCm39) |
N175D |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,273,723 (GRCm39) |
D176G |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,058,684 (GRCm39) |
D351G |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,049 (GRCm39) |
S815T |
probably benign |
Het |
| Gpld1 |
A |
G |
13: 25,170,905 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,453,123 (GRCm39) |
C606R |
possibly damaging |
Het |
| Leo1 |
C |
T |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
| Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,407,635 (GRCm39) |
E471G |
probably damaging |
Het |
| Postn |
C |
T |
3: 54,281,149 (GRCm39) |
R425C |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,250,007 (GRCm39) |
L676P |
probably damaging |
Het |
| Sin3a |
G |
A |
9: 57,005,185 (GRCm39) |
V362M |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,134,363 (GRCm39) |
|
probably null |
Het |
| Smc6 |
A |
T |
12: 11,349,264 (GRCm39) |
D749V |
possibly damaging |
Het |
| Smg5 |
C |
T |
3: 88,258,735 (GRCm39) |
Q569* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,466,970 (GRCm39) |
C4130Y |
probably damaging |
Het |
| Tlcd3a |
T |
C |
11: 76,098,817 (GRCm39) |
F164L |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,925,776 (GRCm39) |
|
probably benign |
Het |
| Tomt |
C |
T |
7: 101,551,393 (GRCm39) |
R29H |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,250,899 (GRCm39) |
D1199E |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,079,046 (GRCm39) |
K433E |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,692,422 (GRCm39) |
Y75C |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,342,973 (GRCm39) |
G303D |
probably damaging |
Het |
|
| Other mutations in Bfar |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Bfar
|
APN |
16 |
13,503,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01532:Bfar
|
APN |
16 |
13,505,251 (GRCm39) |
splice site |
probably benign |
|
|
IGL02727:Bfar
|
APN |
16 |
13,506,791 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03189:Bfar
|
APN |
16 |
13,505,365 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1167:Bfar
|
UTSW |
16 |
13,516,758 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1213:Bfar
|
UTSW |
16 |
13,505,308 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1620:Bfar
|
UTSW |
16 |
13,506,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1951:Bfar
|
UTSW |
16 |
13,519,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2193:Bfar
|
UTSW |
16 |
13,515,335 (GRCm39) |
missense |
probably benign |
|
|
R4578:Bfar
|
UTSW |
16 |
13,505,307 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4789:Bfar
|
UTSW |
16 |
13,503,001 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4819:Bfar
|
UTSW |
16 |
13,505,331 (GRCm39) |
nonsense |
probably null |
|
|
R5271:Bfar
|
UTSW |
16 |
13,510,261 (GRCm39) |
intron |
probably benign |
|
|
R6346:Bfar
|
UTSW |
16 |
13,519,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7186:Bfar
|
UTSW |
16 |
13,510,371 (GRCm39) |
missense |
probably benign |
|
|
R7758:Bfar
|
UTSW |
16 |
13,519,985 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
X0021:Bfar
|
UTSW |
16 |
13,505,451 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1088:Bfar
|
UTSW |
16 |
13,515,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Bfar
|
UTSW |
16 |
13,506,674 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2012-04-20 |
Incidental Mutation