Incidental Mutation 'R3011:Brme1'
| ID |
257508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brme1
|
| Ensembl Gene |
ENSMUSG00000008129 |
| Gene Name |
break repair meiotic recombinase recruitment factor 1 |
| Synonyms |
4930432K21Rik, Mamerr, Meiok21 |
| MMRRC Submission |
040533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R3011 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
84874654-84899219 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 84893539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 235
(Y235*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093375]
[ENSMUST00000118856]
[ENSMUST00000143833]
|
| AlphaFold |
Q6DIA7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093375
AA Change: Y200*
|
| SMART Domains |
Protein: ENSMUSP00000091067
Gene: ENSMUSG00000008129
AA Change: Y200*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
226 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118856
AA Change: Y235*
|
| SMART Domains |
Protein: ENSMUSP00000113651
Gene: ENSMUSG00000008129
AA Change: Y235*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4671
|
1 |
193 |
2.1e-62 |
PFAM |
|
Pfam:DUF4671
|
181 |
600 |
7.3e-131 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143833
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
C |
16: 38,422,269 (GRCm39) |
C1266G |
possibly damaging |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,730,581 (GRCm39) |
T905M |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,428,975 (GRCm39) |
N469S |
probably benign |
Het |
| Commd3 |
T |
A |
2: 18,679,499 (GRCm39) |
V128D |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,088,695 (GRCm39) |
T253A |
probably damaging |
Het |
| Dnajc5b |
A |
T |
3: 19,600,966 (GRCm39) |
Y21F |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,373,720 (GRCm39) |
L660Q |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,200,786 (GRCm39) |
D244G |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,534,047 (GRCm39) |
D312G |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,579,217 (GRCm39) |
S543G |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,604,262 (GRCm39) |
I50N |
probably damaging |
Het |
| Lct |
C |
T |
1: 128,229,109 (GRCm39) |
V795I |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,929 (GRCm39) |
T504S |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,453,771 (GRCm39) |
D887G |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,846 (GRCm39) |
D66V |
possibly damaging |
Het |
| Nqo1 |
C |
T |
8: 108,115,743 (GRCm39) |
R178H |
probably benign |
Het |
| Or13e8 |
G |
T |
4: 43,696,624 (GRCm39) |
A183E |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
| Otof |
G |
A |
5: 30,540,184 (GRCm39) |
A999V |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,129,946 (GRCm39) |
D506G |
probably benign |
Het |
| Pth2r |
C |
T |
1: 65,376,147 (GRCm39) |
H97Y |
probably benign |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Srgap2 |
T |
A |
1: 131,238,329 (GRCm39) |
Q520L |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tlr4 |
A |
T |
4: 66,757,491 (GRCm39) |
K95* |
probably null |
Het |
| Tmem59l |
A |
T |
8: 70,938,887 (GRCm39) |
C96S |
probably damaging |
Het |
| Tmtc3 |
G |
T |
10: 100,283,444 (GRCm39) |
P704T |
possibly damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
| Vps72 |
A |
G |
3: 95,026,585 (GRCm39) |
K177E |
probably damaging |
Het |
|
| Other mutations in Brme1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Brme1
|
APN |
8 |
84,893,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00964:Brme1
|
APN |
8 |
84,893,343 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01826:Brme1
|
APN |
8 |
84,893,301 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02445:Brme1
|
APN |
8 |
84,886,137 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0113:Brme1
|
UTSW |
8 |
84,893,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Brme1
|
UTSW |
8 |
84,889,026 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1590:Brme1
|
UTSW |
8 |
84,893,715 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4357:Brme1
|
UTSW |
8 |
84,886,221 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5642:Brme1
|
UTSW |
8 |
84,894,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5664:Brme1
|
UTSW |
8 |
84,893,288 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5722:Brme1
|
UTSW |
8 |
84,898,473 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7031:Brme1
|
UTSW |
8 |
84,893,313 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7224:Brme1
|
UTSW |
8 |
84,898,842 (GRCm39) |
missense |
probably benign |
|
|
R7303:Brme1
|
UTSW |
8 |
84,887,862 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7459:Brme1
|
UTSW |
8 |
84,893,981 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7618:Brme1
|
UTSW |
8 |
84,893,499 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8414:Brme1
|
UTSW |
8 |
84,893,952 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9252:Brme1
|
UTSW |
8 |
84,898,878 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
RF040:Brme1
|
UTSW |
8 |
84,894,204 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATGGTTTTGAGATGGCCAC -3'
(R):5'- TCAGGGATCTGCTCATCCAGAG -3'
Sequencing Primer
(F):5'- TTTGAGATGGCCACAGTTCAAGAC -3'
(R):5'- CACTCTGTTGCAGCACAGAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation