Incidental Mutation 'R2193:Bfar'
| ID |
238281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bfar
|
| Ensembl Gene |
ENSMUSG00000022684 |
| Gene Name |
bifunctional apoptosis regulator |
| Synonyms |
RNF47 |
| MMRRC Submission |
040195-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R2193 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
13489722-13521476 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13515335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 183
(N183D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063371
(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: N308D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684
AA Change: N308D
| 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: N183D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063371
Gene: ENSMUSG00000022684
AA Change: N183D
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
T |
C |
7: 43,902,993 (GRCm39) |
R289G |
probably benign |
Het |
| Cdca3 |
A |
G |
6: 124,808,409 (GRCm39) |
T69A |
probably damaging |
Het |
| Ces1b |
A |
T |
8: 93,806,505 (GRCm39) |
C14S |
probably benign |
Het |
| Clcn3 |
T |
A |
8: 61,382,221 (GRCm39) |
I456F |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dcpp2 |
A |
C |
17: 24,119,393 (GRCm39) |
D69A |
probably damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,793,431 (GRCm39) |
I475N |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,115,623 (GRCm39) |
M1592L |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,596,532 (GRCm39) |
Q792R |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,252,747 (GRCm39) |
I440V |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,671,994 (GRCm39) |
S31P |
probably damaging |
Het |
| Isoc2b |
T |
C |
7: 4,853,823 (GRCm39) |
H117R |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Klf5 |
C |
T |
14: 99,536,406 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
G |
A |
16: 87,224,535 (GRCm39) |
S63F |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Oas1f |
A |
C |
5: 120,989,648 (GRCm39) |
T196P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ocln |
T |
C |
13: 100,676,412 (GRCm39) |
D27G |
probably damaging |
Het |
| Or2av9 |
A |
T |
11: 58,380,732 (GRCm39) |
M283K |
probably damaging |
Het |
| Or2y17 |
A |
G |
11: 49,231,770 (GRCm39) |
H137R |
possibly damaging |
Het |
| Rasgrf2 |
A |
C |
13: 92,160,221 (GRCm39) |
|
probably null |
Het |
| Sars2 |
G |
T |
7: 28,448,422 (GRCm39) |
V268L |
probably damaging |
Het |
| Sin3a |
T |
A |
9: 57,024,761 (GRCm39) |
S1040R |
possibly damaging |
Het |
| Vps9d1 |
A |
T |
8: 123,979,404 (GRCm39) |
Y39N |
probably 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 |
|
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 |
|
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'- ATGGTCCCATGTCTGTCTTG -3'
(R):5'- GGTGTTCCAGGCCTACAATGAC -3'
Sequencing Primer
(F):5'- GTCCTCTGCAGGCTGTCAAC -3'
(R):5'- TTCACTCTGGCTGAACAGTACAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation