Incidental Mutation 'R4987:Brms1l'
| ID |
385919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brms1l
|
| Ensembl Gene |
ENSMUSG00000012076 |
| Gene Name |
breast cancer metastasis-suppressor 1-like |
| Synonyms |
0710008O11Rik, D12Ertd407e, BRMS1 |
| MMRRC Submission |
042581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R4987 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
55883109-55916521 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55912800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 264
(D264E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059250]
[ENSMUST00000219419]
|
| AlphaFold |
Q3U1T3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059250
AA Change: D264E
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000082500
Gene: ENSMUSG00000012076
AA Change: D264E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
55 |
N/A |
INTRINSIC |
|
Pfam:Sds3
|
61 |
217 |
1.5e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219575
|
| Meta Mutation Damage Score |
0.0953 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.3%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
T |
C |
6: 125,030,725 (GRCm39) |
S249P |
probably benign |
Het |
| Adcy4 |
A |
G |
14: 56,010,934 (GRCm39) |
V661A |
probably benign |
Het |
| Ahdc1 |
T |
G |
4: 132,791,631 (GRCm39) |
H957Q |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,042,440 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,587,952 (GRCm39) |
N57I |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,030,783 (GRCm39) |
N309Y |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,651,938 (GRCm39) |
T285A |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,454,635 (GRCm39) |
V227A |
probably benign |
Het |
| Dennd1c |
G |
T |
17: 57,380,852 (GRCm39) |
T200K |
probably damaging |
Het |
| Dpysl3 |
C |
A |
18: 43,461,492 (GRCm39) |
M566I |
probably benign |
Het |
| Dscam |
A |
T |
16: 96,498,721 (GRCm39) |
D985E |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,542,894 (GRCm39) |
M68T |
probably benign |
Het |
| Gm26996 |
A |
G |
6: 130,567,959 (GRCm39) |
|
unknown |
Het |
| Gm9991 |
A |
T |
1: 90,603,138 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmc |
T |
A |
14: 56,468,997 (GRCm39) |
I241L |
probably damaging |
Het |
| Hibadh |
A |
T |
6: 52,599,880 (GRCm39) |
S105R |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,384,890 (GRCm39) |
I402T |
probably benign |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,396 (GRCm39) |
D76G |
possibly damaging |
Het |
| Lin9 |
A |
G |
1: 180,496,329 (GRCm39) |
S249G |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,637,222 (GRCm39) |
|
probably null |
Het |
| Mfap4 |
A |
G |
11: 61,376,908 (GRCm39) |
I46V |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,064,598 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
G |
2: 68,986,775 (GRCm39) |
M107V |
probably benign |
Het |
| Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
| Or8k33 |
A |
C |
2: 86,383,579 (GRCm39) |
D296E |
probably null |
Het |
| Pcdha12 |
T |
A |
18: 37,154,604 (GRCm39) |
V441E |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,587,118 (GRCm39) |
|
probably benign |
Het |
| Plscr1l1 |
T |
C |
9: 92,236,637 (GRCm39) |
S175P |
probably damaging |
Het |
| Ppme1 |
T |
C |
7: 99,994,278 (GRCm39) |
D145G |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,724,630 (GRCm39) |
V793A |
probably damaging |
Het |
| Rlbp1 |
A |
T |
7: 79,029,879 (GRCm39) |
V118E |
probably damaging |
Het |
| Serinc2 |
C |
T |
4: 130,156,820 (GRCm39) |
|
probably null |
Het |
| Slc25a32 |
A |
G |
15: 38,963,414 (GRCm39) |
C136R |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,757,590 (GRCm39) |
D48G |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,794,047 (GRCm39) |
L46I |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,700,737 (GRCm39) |
|
probably benign |
Het |
| Zp3 |
T |
A |
5: 136,016,359 (GRCm39) |
C320* |
probably null |
Het |
|
| Other mutations in Brms1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Brms1l
|
APN |
12 |
55,892,111 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL00951:Brms1l
|
APN |
12 |
55,912,834 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02199:Brms1l
|
APN |
12 |
55,907,957 (GRCm39) |
critical splice donor site |
probably benign |
|
|
IGL02669:Brms1l
|
APN |
12 |
55,888,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03158:Brms1l
|
APN |
12 |
55,883,320 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03184:Brms1l
|
APN |
12 |
55,915,062 (GRCm39) |
makesense |
probably null |
|
|
R0445:Brms1l
|
UTSW |
12 |
55,908,191 (GRCm39) |
nonsense |
probably null |
|
|
R0568:Brms1l
|
UTSW |
12 |
55,908,173 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0942:Brms1l
|
UTSW |
12 |
55,912,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0968:Brms1l
|
UTSW |
12 |
55,912,798 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1240:Brms1l
|
UTSW |
12 |
55,891,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1580:Brms1l
|
UTSW |
12 |
55,915,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Brms1l
|
UTSW |
12 |
55,888,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1926:Brms1l
|
UTSW |
12 |
55,909,946 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4626:Brms1l
|
UTSW |
12 |
55,909,958 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4669:Brms1l
|
UTSW |
12 |
55,888,356 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6010:Brms1l
|
UTSW |
12 |
55,914,985 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6129:Brms1l
|
UTSW |
12 |
55,914,970 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7429:Brms1l
|
UTSW |
12 |
55,892,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Brms1l
|
UTSW |
12 |
55,892,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7510:Brms1l
|
UTSW |
12 |
55,892,107 (GRCm39) |
nonsense |
probably null |
|
|
R7543:Brms1l
|
UTSW |
12 |
55,914,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Brms1l
|
UTSW |
12 |
55,912,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8200:Brms1l
|
UTSW |
12 |
55,891,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8376:Brms1l
|
UTSW |
12 |
55,888,414 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8532:Brms1l
|
UTSW |
12 |
55,891,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9131:Brms1l
|
UTSW |
12 |
55,906,913 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9335:Brms1l
|
UTSW |
12 |
55,888,431 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9433:Brms1l
|
UTSW |
12 |
55,912,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9577:Brms1l
|
UTSW |
12 |
55,906,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATCACCCATGTGCTTGC -3'
(R):5'- GTGCACCCATGATTGGATCTTAC -3'
Sequencing Primer
(F):5'- GTGCTTGCCTACCCTTGTGG -3'
(R):5'- GCACCCATGATTGGATCTTACTCAAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation