Incidental Mutation 'IGL00901:Brme1'
| ID |
27985 |
| 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: 0.061)
|
| Stock # |
IGL00901
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
84874654-84899219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84893400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 189
(D189G)
|
| 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: D154G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000091067
Gene: ENSMUSG00000008129
AA Change: D154G
| 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 damaging
Transcript: ENSMUST00000118856
AA Change: D189G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113651
Gene: ENSMUSG00000008129
AA Change: D189G
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot6 |
A |
G |
12: 84,153,250 (GRCm39) |
Y164C |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,489,171 (GRCm39) |
S334P |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,612,118 (GRCm39) |
E129G |
probably damaging |
Het |
| Bmt2 |
G |
T |
6: 13,628,748 (GRCm39) |
H312N |
probably damaging |
Het |
| Ces2g |
A |
G |
8: 105,691,761 (GRCm39) |
Y272C |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,669,162 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
C |
6: 18,268,429 (GRCm39) |
|
probably null |
Het |
| Clec2g |
A |
G |
6: 128,925,655 (GRCm39) |
|
probably benign |
Het |
| Cyp2b9 |
A |
T |
7: 25,897,930 (GRCm39) |
I245F |
probably damaging |
Het |
| Fbxo6 |
T |
A |
4: 148,230,600 (GRCm39) |
I221F |
probably damaging |
Het |
| Fbxw21 |
A |
C |
9: 108,985,467 (GRCm39) |
C104G |
probably benign |
Het |
| Flna |
A |
G |
X: 73,273,534 (GRCm39) |
S101P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ift88 |
T |
A |
14: 57,681,902 (GRCm39) |
F229I |
probably damaging |
Het |
| Map2k3 |
T |
C |
11: 60,832,747 (GRCm39) |
S31P |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,154,815 (GRCm39) |
D176G |
probably damaging |
Het |
| Or12d2 |
T |
G |
17: 37,624,598 (GRCm39) |
K226Q |
possibly damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,992 (GRCm39) |
Y276C |
probably damaging |
Het |
| Or14j6 |
T |
A |
17: 38,215,148 (GRCm39) |
V237D |
probably damaging |
Het |
| Pde7b |
C |
T |
10: 20,494,875 (GRCm39) |
|
probably null |
Het |
| Polr3b |
T |
C |
10: 84,467,660 (GRCm39) |
I80T |
possibly damaging |
Het |
| Prpf4b |
T |
A |
13: 35,078,465 (GRCm39) |
Y692N |
probably damaging |
Het |
| Rabl2 |
T |
C |
15: 89,474,473 (GRCm39) |
|
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,115,611 (GRCm39) |
K659R |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,716,934 (GRCm39) |
S774T |
probably damaging |
Het |
| Sema5b |
C |
T |
16: 35,471,685 (GRCm39) |
T426M |
probably damaging |
Het |
| Serpinb10 |
A |
G |
1: 107,468,726 (GRCm39) |
K123R |
probably benign |
Het |
| Slc33a1 |
T |
C |
3: 63,871,433 (GRCm39) |
D60G |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,305,549 (GRCm39) |
Y92* |
probably null |
Het |
| Tvp23b |
T |
A |
11: 62,774,606 (GRCm39) |
|
probably benign |
Het |
| Wnk1 |
T |
A |
6: 119,937,669 (GRCm39) |
Q1218L |
probably damaging |
Het |
|
| Other mutations in Brme1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation