Incidental Mutation 'R1213:Bfar'
| ID |
99497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bfar
|
| Ensembl Gene |
ENSMUSG00000022684 |
| Gene Name |
bifunctional apoptosis regulator |
| Synonyms |
RNF47 |
| MMRRC Submission |
039282-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R1213 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
13489722-13521476 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13505308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 106
(I106T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115585
(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: I106T
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684
AA Change: I106T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000063371
Gene: ENSMUSG00000022684
| 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 |
possibly damaging
Transcript: ENSMUST00000127973
AA Change: I106T
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115585
Gene: ENSMUSG00000022684
AA Change: I106T
| 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: ENSMUST00000132349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154568
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.2%
- 20x: 87.9%
|
| Validation Efficiency |
|
| 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 |
| Cbx8 |
T |
C |
11: 118,930,359 (GRCm39) |
|
probably null |
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 Bfar |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Bfar
|
APN |
16 |
13,516,827 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGTTTCCTTAGTGGTAGCACATAG -3'
(R):5'- ATCAGAAGAACTGACTTCAGAGGCAAC -3'
Sequencing Primer
(F):5'- CATAAAGCAGAACTCTTTGTTGCTC -3'
(R):5'- TTGACGCACGGTACAGATTAAAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation