Incidental Mutation 'IGL01826:Brme1'
| ID |
154674 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Brme1
|
| Ensembl Gene |
ENSMUSG00000008129 |
| Gene Name |
break repair meiotic recombinase recruitment factor 1 |
| Synonyms |
4930432K21Rik, Mamerr, Meiok21 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL01826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
84874654-84899219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84893301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 156
(V156A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093375]
[ENSMUST00000118856]
[ENSMUST00000143833]
|
| AlphaFold |
Q6DIA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093375
AA Change: V121A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091067
Gene: ENSMUSG00000008129
AA Change: V121A
| 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 benign
Transcript: ENSMUST00000118856
AA Change: V156A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113651
Gene: ENSMUSG00000008129
AA Change: V156A
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
A |
7: 45,774,273 (GRCm39) |
D769V |
probably benign |
Het |
| Afm |
T |
A |
5: 90,672,787 (GRCm39) |
|
probably benign |
Het |
| Ago3 |
A |
G |
4: 126,297,075 (GRCm39) |
S181P |
probably damaging |
Het |
| Ccm2l |
C |
A |
2: 152,909,853 (GRCm39) |
|
probably benign |
Het |
| Clhc1 |
A |
G |
11: 29,503,765 (GRCm39) |
|
probably null |
Het |
| Ear6 |
A |
G |
14: 52,091,722 (GRCm39) |
I90V |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,812,983 (GRCm39) |
S3101A |
probably benign |
Het |
| Gpsm1 |
C |
A |
2: 26,216,314 (GRCm39) |
H384N |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,901,318 (GRCm39) |
I235V |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 41,339,246 (GRCm39) |
G752C |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,599,835 (GRCm39) |
D659G |
possibly damaging |
Het |
| Odad1 |
T |
A |
7: 45,597,810 (GRCm39) |
S573R |
possibly damaging |
Het |
| Plb1 |
A |
C |
5: 32,438,489 (GRCm39) |
D208A |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,727,682 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
A |
G |
7: 102,076,282 (GRCm39) |
|
probably benign |
Het |
| Sult4a1 |
A |
T |
15: 83,974,247 (GRCm39) |
S141T |
probably damaging |
Het |
| Tas2r119 |
A |
T |
15: 32,177,548 (GRCm39) |
K38M |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
| Zfp451 |
G |
A |
1: 33,821,243 (GRCm39) |
T203M |
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 |
|
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 |
|
R3011:Brme1
|
UTSW |
8 |
84,893,539 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation