Incidental Mutation 'R4320:Brix1'
| ID |
323789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brix1
|
| Ensembl Gene |
ENSMUSG00000022247 |
| Gene Name |
BRX1, biogenesis of ribosomes |
| Synonyms |
Bxdc2, 1110064N10Rik |
| MMRRC Submission |
041661-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R4320 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
10474865-10486023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 10483398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 91
(M91K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022855]
[ENSMUST00000022856]
[ENSMUST00000100775]
[ENSMUST00000168408]
[ENSMUST00000168761]
[ENSMUST00000169050]
[ENSMUST00000170100]
[ENSMUST00000169519]
|
| AlphaFold |
Q9DCA5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022855
AA Change: M85K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022855
Gene: ENSMUSG00000022247
AA Change: M85K
| Domain | Start | End | E-Value | Type |
|---|
|
Brix
|
63 |
243 |
3.62e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022856
|
| SMART Domains |
Protein: ENSMUSP00000022856
Gene: ENSMUSG00000022248
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
16 |
257 |
2.2e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100775
|
| SMART Domains |
Protein: ENSMUSP00000098338
Gene: ENSMUSG00000022248
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
16 |
235 |
5.5e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168408
|
| SMART Domains |
Protein: ENSMUSP00000132747
Gene: ENSMUSG00000022248
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
16 |
67 |
1.7e-17 |
PFAM |
|
| 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 damaging
Transcript: ENSMUST00000169050
AA Change: M91K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127437
Gene: ENSMUSG00000022247
AA Change: M91K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Brix
|
72 |
154 |
8.8e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170100
|
| SMART Domains |
Protein: ENSMUSP00000128601
Gene: ENSMUSG00000022248
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
1 |
161 |
1.3e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169519
|
| SMART Domains |
Protein: ENSMUSP00000126645
Gene: ENSMUSG00000022248
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad1
|
16 |
133 |
9e-36 |
PFAM |
|
| Meta Mutation Damage Score |
0.7651 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,740,076 (GRCm39) |
V826I |
possibly damaging |
Het |
| Arid4a |
T |
A |
12: 71,116,769 (GRCm39) |
I609N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdh10 |
A |
G |
15: 18,985,251 (GRCm39) |
D305G |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,393 (GRCm39) |
L136P |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,661,200 (GRCm39) |
L361Q |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,057,051 (GRCm39) |
Y856S |
probably damaging |
Het |
| Grk5 |
C |
T |
19: 61,080,383 (GRCm39) |
R576* |
probably null |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Htr1f |
T |
C |
16: 64,747,050 (GRCm39) |
I81V |
possibly damaging |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Mtf2 |
T |
A |
5: 108,234,891 (GRCm39) |
C3S |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,437,947 (GRCm39) |
R836G |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,007,960 (GRCm39) |
N241D |
possibly damaging |
Het |
| Or12j2 |
T |
A |
7: 139,916,219 (GRCm39) |
I148N |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or7g25 |
A |
C |
9: 19,160,052 (GRCm39) |
I214M |
probably damaging |
Het |
| Or7g28 |
G |
T |
9: 19,272,254 (GRCm39) |
Y132* |
probably null |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pax2 |
T |
A |
19: 44,823,838 (GRCm39) |
F366I |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Plekha5 |
A |
G |
6: 140,489,543 (GRCm39) |
K316E |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,564,502 (GRCm39) |
N8K |
probably damaging |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Sostdc1 |
C |
A |
12: 36,367,419 (GRCm39) |
S198R |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
| Stat4 |
A |
G |
1: 52,113,866 (GRCm39) |
N192S |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,960,493 (GRCm39) |
H66R |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,299,325 (GRCm39) |
E1101G |
possibly damaging |
Het |
| Trpa1 |
G |
T |
1: 14,944,676 (GRCm39) |
H1023N |
probably benign |
Het |
| Tsen15 |
A |
T |
1: 152,259,460 (GRCm39) |
D66E |
probably damaging |
Het |
| Tssk3 |
A |
G |
4: 129,382,994 (GRCm39) |
V226A |
possibly damaging |
Het |
| Ufl1 |
T |
A |
4: 25,278,601 (GRCm39) |
|
probably null |
Het |
| Usp3 |
A |
G |
9: 66,437,530 (GRCm39) |
C258R |
possibly damaging |
Het |
| Vmn2r117 |
TC |
T |
17: 23,698,487 (GRCm39) |
|
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 |
|
R1266:Brix1
|
UTSW |
15 |
10,478,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4276:Brix1
|
UTSW |
15 |
10,481,833 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
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'- GTGACACCTGAAAGAGTGAACTTTTG -3'
(R):5'- TTGGAGACTTGACGACTGTC -3'
Sequencing Primer
(F):5'- TTTGAGACAGGGTCCCTAAACTG -3'
(R):5'- TGTCAGAAACACACCAAGTATGTTC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation