Incidental Mutation 'R1266:Brix1'
| ID |
151176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brix1
|
| Ensembl Gene |
ENSMUSG00000022247 |
| Gene Name |
BRX1, biogenesis of ribosomes |
| Synonyms |
Bxdc2, 1110064N10Rik |
| MMRRC Submission |
039333-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R1266 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
10474865-10486023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10478847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 191
(T191A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022855]
[ENSMUST00000168761]
[ENSMUST00000169050]
|
| AlphaFold |
Q9DCA5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022855
AA Change: T191A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022855
Gene: ENSMUSG00000022247
AA Change: T191A
| Domain | Start | End | E-Value | Type |
|---|
|
Brix
|
63 |
243 |
3.62e-58 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168690
|
| SMART Domains |
Protein: ENSMUSP00000132283
Gene: ENSMUSG00000022247
| Domain | Start | End | E-Value | Type |
|---|
|
Brix
|
22 |
147 |
5.12e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168761
|
| SMART Domains |
Protein: ENSMUSP00000130602
Gene: ENSMUSG00000022247
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Brix
|
10 |
51 |
5e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169050
|
| SMART Domains |
Protein: ENSMUSP00000127437
Gene: ENSMUSG00000022247
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Brix
|
72 |
154 |
8.8e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
C |
A |
12: 8,056,093 (GRCm39) |
T1492N |
probably benign |
Het |
| C1qc |
A |
G |
4: 136,617,668 (GRCm39) |
S143P |
possibly damaging |
Het |
| Crim1 |
GGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTG |
17: 78,508,262 (GRCm39) |
|
probably benign |
Het |
| Defa22 |
G |
T |
8: 21,652,384 (GRCm39) |
V17F |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,888,169 (GRCm39) |
T439S |
possibly damaging |
Het |
| Flt3 |
A |
G |
5: 147,293,670 (GRCm39) |
S469P |
probably benign |
Het |
| Krtap19-9b |
A |
T |
16: 88,728,940 (GRCm39) |
S54T |
unknown |
Het |
| Ncor1 |
T |
C |
11: 62,224,866 (GRCm39) |
D798G |
probably damaging |
Het |
| Oosp1 |
T |
C |
19: 11,645,163 (GRCm39) |
H167R |
possibly damaging |
Het |
| Or5d16 |
A |
T |
2: 87,773,877 (GRCm39) |
L32M |
probably benign |
Het |
| Poln |
A |
T |
5: 34,290,453 (GRCm39) |
|
probably null |
Het |
| Primpol |
A |
T |
8: 47,046,734 (GRCm39) |
N187K |
probably damaging |
Het |
| Prr12 |
A |
G |
7: 44,699,677 (GRCm39) |
|
probably benign |
Het |
| Setd1b |
A |
G |
5: 123,285,904 (GRCm39) |
T317A |
unknown |
Het |
| Sgo2b |
G |
A |
8: 64,381,455 (GRCm39) |
T459M |
probably benign |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zfp455 |
C |
T |
13: 67,355,028 (GRCm39) |
R99* |
probably null |
Het |
|
| Other mutations in Brix1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03136:Brix1
|
APN |
15 |
10,478,852 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4276:Brix1
|
UTSW |
15 |
10,481,833 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4320:Brix1
|
UTSW |
15 |
10,483,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Brix1
|
UTSW |
15 |
10,485,828 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4902:Brix1
|
UTSW |
15 |
10,483,378 (GRCm39) |
splice site |
probably null |
|
|
R6018:Brix1
|
UTSW |
15 |
10,476,675 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6019:Brix1
|
UTSW |
15 |
10,476,675 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6021:Brix1
|
UTSW |
15 |
10,476,675 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6022:Brix1
|
UTSW |
15 |
10,476,675 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7203:Brix1
|
UTSW |
15 |
10,483,378 (GRCm39) |
splice site |
probably null |
|
|
R7218:Brix1
|
UTSW |
15 |
10,483,378 (GRCm39) |
splice site |
probably null |
|
|
R7522:Brix1
|
UTSW |
15 |
10,476,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8390:Brix1
|
UTSW |
15 |
10,485,954 (GRCm39) |
missense |
probably benign |
|
|
R8754:Brix1
|
UTSW |
15 |
10,476,664 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8830:Brix1
|
UTSW |
15 |
10,479,682 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
X0023:Brix1
|
UTSW |
15 |
10,478,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGTGTGGCAGCAATCACTTG -3'
(R):5'- GGAAACTGTTTGAAAGGTTCTCGGC -3'
Sequencing Primer
(F):5'- CTTGCCACAAATATCAGAAGGAG -3'
(R):5'- ATAGGCTTTTGATGACTTGCCAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation