Incidental Mutation 'R0041:Braf'
| ID |
15634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Braf
|
| Ensembl Gene |
ENSMUSG00000002413 |
| Gene Name |
Braf transforming gene |
| Synonyms |
D6Ertd631e, 9930012E13Rik, Braf2, Braf-2 |
| MMRRC Submission |
038335-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0041 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
39580171-39702397 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 39617413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 534
(A534T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002487]
[ENSMUST00000101497]
|
| AlphaFold |
P28028 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002487
AA Change: A534T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002487
Gene: ENSMUSG00000002413
AA Change: A534T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
coiled coil region
|
94 |
121 |
N/A |
INTRINSIC |
|
RBD
|
139 |
211 |
1.04e-33 |
SMART |
|
C1
|
219 |
264 |
1.05e-13 |
SMART |
|
low complexity region
|
297 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
474 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
494 |
751 |
9.6e-65 |
PFAM |
|
Pfam:Pkinase
|
494 |
753 |
5.1e-60 |
PFAM |
|
Pfam:Kinase-like
|
573 |
741 |
3e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101497
AA Change: A481T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099036
Gene: ENSMUSG00000002413
AA Change: A481T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
22 |
N/A |
INTRINSIC |
|
coiled coil region
|
60 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
120 |
N/A |
INTRINSIC |
|
RBD
|
138 |
210 |
1.04e-33 |
SMART |
|
C1
|
218 |
263 |
1.05e-13 |
SMART |
|
low complexity region
|
296 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
406 |
421 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
441 |
698 |
8.2e-62 |
PFAM |
|
Pfam:Pkinase_Tyr
|
441 |
698 |
1.5e-65 |
PFAM |
|
Pfam:Kinase-like
|
523 |
688 |
3.2e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167073
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167169
|
| Meta Mutation Damage Score |
0.5147 |
| Coding Region Coverage |
- 1x: 77.6%
- 3x: 65.6%
- 10x: 37.8%
- 20x: 19.1%
|
| Validation Efficiency |
90% (47/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die during organogenesis, are smaller, have enlarged blood vessels, hemorrhaging, poor circulation, slow heartbeat and abnormal endothelial cell development. Mice homozygous for a targeted allele activated in neurons exhibit impaired neuronal differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
| Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
| Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
| Dlk1 |
G |
C |
12: 109,421,439 (GRCm39) |
G50A |
probably damaging |
Het |
| Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
| Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
| Gigyf2 |
A |
C |
1: 87,306,698 (GRCm39) |
R129S |
probably damaging |
Het |
| Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
| Lrrc7 |
G |
A |
3: 157,869,897 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,817,542 (GRCm39) |
S464P |
probably damaging |
Het |
| Myh1 |
A |
C |
11: 67,099,904 (GRCm39) |
N605H |
possibly damaging |
Het |
| Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,914,074 (GRCm39) |
N1265K |
probably benign |
Het |
| Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
| Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
| Slco1a1 |
A |
G |
6: 141,864,185 (GRCm39) |
|
probably benign |
Het |
| Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
| Synb |
T |
C |
14: 69,747,926 (GRCm39) |
T193A |
probably damaging |
Het |
| Syt11 |
A |
G |
3: 88,655,210 (GRCm39) |
Y364H |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,810,104 (GRCm39) |
H3229L |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
Het |
| Zfp1001 |
A |
G |
2: 150,165,745 (GRCm39) |
I42V |
possibly damaging |
Het |
|
| Other mutations in Braf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Braf
|
APN |
6 |
39,637,933 (GRCm39) |
splice site |
probably null |
|
|
IGL01616:Braf
|
APN |
6 |
39,628,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01621:Braf
|
APN |
6 |
39,623,787 (GRCm39) |
intron |
probably benign |
|
|
IGL01825:Braf
|
APN |
6 |
39,616,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02435:Braf
|
APN |
6 |
39,623,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02629:Braf
|
APN |
6 |
39,665,233 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02751:Braf
|
APN |
6 |
39,637,801 (GRCm39) |
splice site |
probably benign |
|
|
IGL02829:Braf
|
APN |
6 |
39,604,662 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0041:Braf
|
UTSW |
6 |
39,617,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:Braf
|
UTSW |
6 |
39,617,483 (GRCm39) |
splice site |
probably benign |
|
|
R0512:Braf
|
UTSW |
6 |
39,641,923 (GRCm39) |
splice site |
probably benign |
|
|
R0604:Braf
|
UTSW |
6 |
39,600,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Braf
|
UTSW |
6 |
39,639,082 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1468:Braf
|
UTSW |
6 |
39,642,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Braf
|
UTSW |
6 |
39,642,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Braf
|
UTSW |
6 |
39,620,067 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2160:Braf
|
UTSW |
6 |
39,639,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Braf
|
UTSW |
6 |
39,600,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4407:Braf
|
UTSW |
6 |
39,592,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4540:Braf
|
UTSW |
6 |
39,621,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Braf
|
UTSW |
6 |
39,665,221 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5478:Braf
|
UTSW |
6 |
39,654,508 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6284:Braf
|
UTSW |
6 |
39,665,216 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6993:Braf
|
UTSW |
6 |
39,620,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7251:Braf
|
UTSW |
6 |
39,654,504 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7385:Braf
|
UTSW |
6 |
39,642,042 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7483:Braf
|
UTSW |
6 |
39,604,772 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7511:Braf
|
UTSW |
6 |
39,665,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7660:Braf
|
UTSW |
6 |
39,600,575 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8323:Braf
|
UTSW |
6 |
39,620,058 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8527:Braf
|
UTSW |
6 |
39,604,693 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8542:Braf
|
UTSW |
6 |
39,604,693 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8993:Braf
|
UTSW |
6 |
39,639,085 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9573:Braf
|
UTSW |
6 |
39,600,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Braf
|
UTSW |
6 |
39,591,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Braf
|
UTSW |
6 |
39,638,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Braf
|
UTSW |
6 |
39,620,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Braf
|
UTSW |
6 |
39,702,189 (GRCm39) |
missense |
unknown |
|
|
Z1186:Braf
|
UTSW |
6 |
39,702,187 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2012-12-21 |
Incidental Mutation