Incidental Mutation 'R0670:Brms1'
| ID |
61412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brms1
|
| Ensembl Gene |
ENSMUSG00000080268 |
| Gene Name |
breast cancer metastasis-suppressor 1 |
| Synonyms |
|
| MMRRC Submission |
038855-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.848)
|
| Stock # |
R0670 (G1)
|
| Quality Score |
163 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5091391-5099940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 5095999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 24
(N24K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025818]
[ENSMUST00000053705]
[ENSMUST00000116567]
[ENSMUST00000224178]
[ENSMUST00000224288]
[ENSMUST00000224363]
[ENSMUST00000225427]
[ENSMUST00000225799]
|
| AlphaFold |
Q99N20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025818
|
| SMART Domains |
Protein: ENSMUSP00000025818
Gene: ENSMUSG00000024883
| Domain | Start | End | E-Value | Type |
|---|
|
SH2
|
66 |
153 |
2.16e-5 |
SMART |
|
low complexity region
|
241 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
300 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
454 |
N/A |
INTRINSIC |
|
VPS9
|
478 |
596 |
2.29e-64 |
SMART |
|
RA
|
613 |
694 |
1.14e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053705
|
| SMART Domains |
Protein: ENSMUSP00000062016
Gene: ENSMUSG00000047379
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
49 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_49
|
94 |
409 |
3.8e-106 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116567
AA Change: N24K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112266
Gene: ENSMUSG00000080268
AA Change: N24K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
59 |
N/A |
INTRINSIC |
|
Pfam:Sds3
|
60 |
209 |
5.3e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224254
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224288
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224363
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225799
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(12) : Targeted(2) Gene trapped(10)
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
| Abraxas2 |
A |
T |
7: 132,470,760 (GRCm39) |
|
probably null |
Het |
| Afap1l2 |
G |
A |
19: 56,904,235 (GRCm39) |
T684I |
probably damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,578,481 (GRCm39) |
V205E |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,853,784 (GRCm39) |
|
probably null |
Het |
| Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,180,544 (GRCm39) |
K130E |
possibly damaging |
Het |
| Crisp1 |
A |
C |
17: 40,616,001 (GRCm39) |
Y125* |
probably null |
Het |
| Dnhd1 |
A |
T |
7: 105,345,671 (GRCm39) |
D2272V |
possibly damaging |
Het |
| Elmod1 |
A |
G |
9: 53,820,106 (GRCm39) |
V294A |
probably damaging |
Het |
| Gmfg |
T |
A |
7: 28,140,953 (GRCm39) |
I33K |
probably damaging |
Het |
| Gsk3b |
G |
T |
16: 37,964,678 (GRCm39) |
D49Y |
probably damaging |
Het |
| H2-T5 |
G |
C |
17: 36,478,990 (GRCm39) |
F86L |
possibly damaging |
Het |
| Harbi1 |
C |
T |
2: 91,542,880 (GRCm39) |
R114W |
probably damaging |
Het |
| Hspbp1 |
A |
G |
7: 4,680,735 (GRCm39) |
V247A |
probably damaging |
Het |
| Kif17 |
A |
T |
4: 137,989,810 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
T |
A |
16: 19,768,309 (GRCm39) |
H412L |
possibly damaging |
Het |
| Muc1 |
A |
G |
3: 89,137,839 (GRCm39) |
D227G |
probably benign |
Het |
| Nat8f5 |
A |
T |
6: 85,794,957 (GRCm39) |
M1K |
probably null |
Het |
| Neb |
A |
G |
2: 52,146,136 (GRCm39) |
V2947A |
possibly damaging |
Het |
| Nfrkb |
A |
T |
9: 31,331,469 (GRCm39) |
Q1295L |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,445,292 (GRCm39) |
V150A |
possibly damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,429,701 (GRCm39) |
D558V |
probably damaging |
Het |
| Pdilt |
T |
C |
7: 119,099,651 (GRCm39) |
K206E |
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,545,104 (GRCm39) |
I23K |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,090,160 (GRCm39) |
L60Q |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,316,520 (GRCm39) |
D2413E |
probably benign |
Het |
| Socs1 |
A |
G |
16: 10,602,126 (GRCm39) |
Y204H |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,196,526 (GRCm39) |
D301G |
possibly damaging |
Het |
| Tlr5 |
T |
A |
1: 182,801,454 (GRCm39) |
W253R |
probably damaging |
Het |
| Treml2 |
A |
G |
17: 48,614,864 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,579,448 (GRCm39) |
L22069P |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,833,139 (GRCm39) |
S1614I |
probably benign |
Het |
| Vrk2 |
C |
T |
11: 26,436,959 (GRCm39) |
|
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,873,109 (GRCm39) |
Y655C |
probably damaging |
Het |
|
| Other mutations in Brms1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Brms1
|
APN |
19 |
5,099,070 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01391:Brms1
|
APN |
19 |
5,096,723 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02583:Brms1
|
APN |
19 |
5,096,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4576001:Brms1
|
UTSW |
19 |
5,096,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Brms1
|
UTSW |
19 |
5,096,727 (GRCm39) |
nonsense |
probably null |
|
|
R0054:Brms1
|
UTSW |
19 |
5,096,727 (GRCm39) |
nonsense |
probably null |
|
|
R1757:Brms1
|
UTSW |
19 |
5,096,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Brms1
|
UTSW |
19 |
5,096,027 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6963:Brms1
|
UTSW |
19 |
5,096,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7096:Brms1
|
UTSW |
19 |
5,096,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Brms1
|
UTSW |
19 |
5,096,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8444:Brms1
|
UTSW |
19 |
5,091,520 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGTTCCATCGAGCACGTTTTC -3'
(R):5'- TTCCAGGTCCAGCATCTCACTGAC -3'
Sequencing Primer
(F):5'- AGTGTGGTGACACTAGTCACTTC -3'
(R):5'- TGACACACTCACTGCGGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation