Incidental Mutation 'IGL00492:Braf'
| ID |
9296 |
| 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 # |
IGL00492
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
39580171-39702397 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 39637933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002487]
[ENSMUST00000002487]
[ENSMUST00000002487]
[ENSMUST00000101497]
|
| AlphaFold |
P28028 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002487
|
| SMART Domains |
Protein: ENSMUSP00000002487
Gene: ENSMUSG00000002413
| 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 null
Transcript: ENSMUST00000002487
|
| SMART Domains |
Protein: ENSMUSP00000002487
Gene: ENSMUSG00000002413
| 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 null
Transcript: ENSMUST00000002487
|
| SMART Domains |
Protein: ENSMUSP00000002487
Gene: ENSMUSG00000002413
| 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 null
Transcript: ENSMUST00000101497
|
| SMART Domains |
Protein: ENSMUSP00000099036
Gene: ENSMUSG00000002413
| 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: 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap29 |
G |
T |
3: 121,796,961 (GRCm39) |
E108* |
probably null |
Het |
| Calr3 |
G |
A |
8: 73,185,240 (GRCm39) |
Q112* |
probably null |
Het |
| Dis3 |
A |
G |
14: 99,320,110 (GRCm39) |
I649T |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,577,670 (GRCm39) |
V65A |
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,209,646 (GRCm39) |
Y126H |
probably damaging |
Het |
| Dtwd2 |
A |
T |
18: 49,856,776 (GRCm39) |
Y170* |
probably null |
Het |
| Efcab7 |
A |
G |
4: 99,719,700 (GRCm39) |
T61A |
probably benign |
Het |
| Fbxl3 |
G |
T |
14: 103,332,730 (GRCm39) |
L83M |
probably damaging |
Het |
| Fbxo17 |
A |
C |
7: 28,434,766 (GRCm39) |
S184R |
probably damaging |
Het |
| Fcf1 |
T |
C |
12: 85,029,106 (GRCm39) |
|
probably null |
Het |
| Hcrtr2 |
T |
C |
9: 76,153,723 (GRCm39) |
Y223C |
probably damaging |
Het |
| Kcnn1 |
A |
G |
8: 71,300,706 (GRCm39) |
F432S |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,719,231 (GRCm39) |
|
probably benign |
Het |
| Lce1j |
T |
C |
3: 92,696,713 (GRCm39) |
T22A |
unknown |
Het |
| Lrfn5 |
T |
A |
12: 61,890,912 (GRCm39) |
S734T |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,852,760 (GRCm39) |
S2253R |
possibly damaging |
Het |
| Msantd5f1 |
C |
T |
4: 73,605,570 (GRCm39) |
T327I |
probably damaging |
Het |
| Myrfl |
G |
A |
10: 116,632,011 (GRCm39) |
L645F |
possibly damaging |
Het |
| Nudt9 |
A |
G |
5: 104,209,628 (GRCm39) |
|
probably benign |
Het |
| Ostn |
T |
A |
16: 27,140,132 (GRCm39) |
M15K |
possibly damaging |
Het |
| Psg20 |
T |
C |
7: 18,408,536 (GRCm39) |
T395A |
possibly damaging |
Het |
| Rpf1 |
G |
A |
3: 146,218,002 (GRCm39) |
H171Y |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,063,902 (GRCm39) |
E1325G |
probably damaging |
Het |
| Slc22a8 |
G |
T |
19: 8,571,499 (GRCm39) |
V77L |
probably benign |
Het |
| Tbck |
A |
C |
3: 132,428,501 (GRCm39) |
K285N |
probably benign |
Het |
| Vmn1r86 |
C |
T |
7: 12,836,468 (GRCm39) |
C86Y |
possibly damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,111,381 (GRCm39) |
I73T |
probably damaging |
Het |
| Zfp512b |
T |
C |
2: 181,228,862 (GRCm39) |
D701G |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,192 (GRCm39) |
Y379N |
possibly damaging |
Het |
| Znfx1 |
G |
T |
2: 166,878,843 (GRCm39) |
H980Q |
probably damaging |
Het |
|
| Other mutations in Braf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation