Incidental Mutation 'R0854:Brox'
| ID |
82647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brox
|
| Ensembl Gene |
ENSMUSG00000046836 |
| Gene Name |
BRO1 domain and CAAX motif containing |
| Synonyms |
0610010K06Rik |
| MMRRC Submission |
039033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R0854 (G1)
|
| Quality Score |
173 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
183057916-183078813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 183069322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 128
(R128S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057062]
[ENSMUST00000163528]
[ENSMUST00000192829]
[ENSMUST00000194327]
[ENSMUST00000195054]
|
| AlphaFold |
Q8K2Q7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057062
AA Change: R128S
PolyPhen 2
Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000061345
Gene: ENSMUSG00000046836
AA Change: R128S
| Domain | Start | End | E-Value | Type |
|---|
|
BRO1
|
4 |
384 |
1.74e-92 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163528
AA Change: R128S
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132333
Gene: ENSMUSG00000046836
AA Change: R128S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ZXP|C
|
1 |
101 |
5e-63 |
PDB |
|
Blast:BRO1
|
4 |
101 |
1e-67 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192829
|
| SMART Domains |
Protein: ENSMUSP00000141585
Gene: ENSMUSG00000046836
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ZXP|C
|
1 |
91 |
4e-55 |
PDB |
|
Blast:BRO1
|
4 |
91 |
9e-59 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194089
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194695
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195054
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
G |
A |
11: 69,055,302 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
G |
A |
4: 118,419,069 (GRCm39) |
T1153I |
probably benign |
Het |
| Ddt |
C |
T |
10: 75,607,329 (GRCm39) |
R54H |
probably benign |
Het |
| Epm2aip1 |
T |
A |
9: 111,101,567 (GRCm39) |
L180* |
probably null |
Het |
| Fer1l6 |
A |
G |
15: 58,431,037 (GRCm39) |
I231V |
probably benign |
Het |
| Gng7 |
A |
G |
10: 80,787,507 (GRCm39) |
V52A |
possibly damaging |
Het |
| Hbb-bh2 |
T |
C |
7: 103,489,272 (GRCm39) |
H93R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,599,329 (GRCm39) |
H3292L |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,166,426 (GRCm39) |
E188G |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,149,973 (GRCm39) |
L1844P |
possibly damaging |
Het |
| Ncan |
G |
T |
8: 70,565,202 (GRCm39) |
R242S |
probably damaging |
Het |
| Nceh1 |
T |
A |
3: 27,295,468 (GRCm39) |
L243Q |
probably damaging |
Het |
| Notch4 |
T |
A |
17: 34,787,546 (GRCm39) |
S369T |
probably damaging |
Het |
| P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
| Pask |
T |
A |
1: 93,255,122 (GRCm39) |
K316M |
probably damaging |
Het |
| Pask |
T |
A |
1: 93,255,156 (GRCm39) |
T305S |
possibly damaging |
Het |
| Pask |
T |
C |
1: 93,255,134 (GRCm39) |
K312R |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,607,342 (GRCm39) |
V284A |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,739,408 (GRCm39) |
Y40C |
probably damaging |
Het |
| Sema6d |
C |
T |
2: 124,507,222 (GRCm39) |
T1010M |
probably damaging |
Het |
| Thsd1 |
G |
A |
8: 22,748,587 (GRCm39) |
G433E |
probably damaging |
Het |
| Tnfsf18 |
T |
A |
1: 161,331,237 (GRCm39) |
I129N |
probably damaging |
Het |
| Tsc22d1 |
C |
T |
14: 76,655,641 (GRCm39) |
Q625* |
probably null |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn2r58 |
T |
G |
7: 41,486,562 (GRCm39) |
N778H |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,156,916 (GRCm39) |
V7I |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,577 (GRCm39) |
V102A |
possibly damaging |
Het |
|
| Other mutations in Brox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1086:Brox
|
UTSW |
1 |
183,064,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4488:Brox
|
UTSW |
1 |
183,062,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4524:Brox
|
UTSW |
1 |
183,074,045 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5112:Brox
|
UTSW |
1 |
183,073,541 (GRCm39) |
missense |
probably benign |
|
|
R5559:Brox
|
UTSW |
1 |
183,073,552 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5951:Brox
|
UTSW |
1 |
183,064,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Brox
|
UTSW |
1 |
183,065,750 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7029:Brox
|
UTSW |
1 |
183,065,750 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7229:Brox
|
UTSW |
1 |
183,073,523 (GRCm39) |
nonsense |
probably null |
|
|
R7629:Brox
|
UTSW |
1 |
183,074,068 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7935:Brox
|
UTSW |
1 |
183,062,484 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8140:Brox
|
UTSW |
1 |
183,075,437 (GRCm39) |
splice site |
probably null |
|
|
R8164:Brox
|
UTSW |
1 |
183,062,491 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9430:Brox
|
UTSW |
1 |
183,069,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACATAGACTGAGCTGCACGACTG -3'
(R):5'- GCAAACTTAGACAATGCTGGACCACAG -3'
Sequencing Primer
(F):5'- CTGTAGTACCTAAGTATGAAACAAGG -3'
(R):5'- aactcacagtgatttacatgcc -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation