Incidental Mutation 'IGL01616:Braf'
ID |
92392 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Braf
|
Ensembl Gene |
ENSMUSG00000002413 |
Gene Name |
Braf transforming gene |
Synonyms |
D6Ertd631e, 9930012E13Rik, Braf2, Braf-2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01616
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
39580171-39702397 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39628586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 348
(S348P)
|
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: S348P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002487 Gene: ENSMUSG00000002413 AA Change: S348P
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: S347P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099036 Gene: ENSMUSG00000002413 AA Change: S347P
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: ENSMUST00000168364
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169647
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
T |
A |
16: 85,684,702 (GRCm39) |
|
probably null |
Het |
Afg3l1 |
T |
A |
8: 124,228,746 (GRCm39) |
W771R |
probably damaging |
Het |
Cd200 |
T |
C |
16: 45,217,419 (GRCm39) |
T112A |
possibly damaging |
Het |
Cep350 |
T |
C |
1: 155,828,993 (GRCm39) |
I304V |
probably benign |
Het |
Fcsk |
G |
T |
8: 111,617,108 (GRCm39) |
H388N |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,323,064 (GRCm39) |
T1072A |
probably damaging |
Het |
Fry |
A |
T |
5: 150,362,276 (GRCm39) |
|
probably null |
Het |
Gcdh |
C |
T |
8: 85,620,288 (GRCm39) |
G8D |
probably damaging |
Het |
Ivns1abp |
C |
A |
1: 151,237,294 (GRCm39) |
T486K |
possibly damaging |
Het |
Mat1a |
G |
A |
14: 40,831,436 (GRCm39) |
V55M |
probably damaging |
Het |
Or52p1 |
T |
C |
7: 104,266,928 (GRCm39) |
F22S |
probably damaging |
Het |
Pcnx3 |
C |
T |
19: 5,717,287 (GRCm39) |
|
probably benign |
Het |
Psrc1 |
C |
A |
3: 108,294,008 (GRCm39) |
S275Y |
possibly damaging |
Het |
Ptpn21 |
A |
G |
12: 98,646,272 (GRCm39) |
L1062P |
probably damaging |
Het |
Slc22a13b |
A |
C |
9: 119,049,994 (GRCm39) |
|
probably benign |
Het |
Slc35b1 |
T |
A |
11: 95,279,910 (GRCm39) |
M178K |
probably benign |
Het |
Slc6a11 |
A |
T |
6: 114,111,829 (GRCm39) |
Q132L |
possibly damaging |
Het |
Slc9a8 |
C |
T |
2: 167,266,086 (GRCm39) |
T21I |
possibly damaging |
Het |
Tox |
T |
C |
4: 6,688,430 (GRCm39) |
T526A |
probably damaging |
Het |
Ubr3 |
C |
T |
2: 69,850,828 (GRCm39) |
P1749S |
probably benign |
Het |
Wdfy3 |
C |
A |
5: 102,061,126 (GRCm39) |
A1363S |
probably damaging |
Het |
Zdhhc23 |
T |
A |
16: 43,793,843 (GRCm39) |
H277L |
probably 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 |
|
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 |
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 |
2013-12-09 |