Incidental Mutation 'R8993:Braf'
ID |
684537 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Braf
|
Ensembl Gene |
ENSMUSG00000002413 |
Gene Name |
Braf transforming gene |
Synonyms |
D6Ertd631e, 9930012E13Rik, Braf2, Braf-2 |
MMRRC Submission |
068824-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8993 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
39580171-39702397 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39639085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 222
(V222A)
|
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: V222A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000002487 Gene: ENSMUSG00000002413 AA Change: V222A
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: V221A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099036 Gene: ENSMUSG00000002413 AA Change: V221A
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 |
|
Meta Mutation Damage Score |
0.3075 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (56/56) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700069L16Rik |
A |
T |
5: 113,841,842 (GRCm39) |
C92* |
probably null |
Het |
A830018L16Rik |
G |
T |
1: 11,615,491 (GRCm39) |
E155* |
probably null |
Het |
Acaa1a |
A |
T |
9: 119,178,418 (GRCm39) |
|
probably null |
Het |
Adcy4 |
T |
C |
14: 56,008,835 (GRCm39) |
E864G |
probably null |
Het |
Adcy4 |
T |
C |
14: 56,016,156 (GRCm39) |
D387G |
probably damaging |
Het |
Ank1 |
C |
T |
8: 23,588,955 (GRCm39) |
H574Y |
probably damaging |
Het |
Arhgef16 |
C |
T |
4: 154,371,495 (GRCm39) |
E233K |
probably damaging |
Het |
Arhgef26 |
A |
T |
3: 62,355,525 (GRCm39) |
Y699F |
probably benign |
Het |
BB014433 |
C |
T |
8: 15,092,101 (GRCm39) |
V251M |
probably damaging |
Het |
Bcan |
G |
A |
3: 87,901,529 (GRCm39) |
A391V |
probably benign |
Het |
Bod1l |
A |
C |
5: 41,974,210 (GRCm39) |
V2368G |
probably benign |
Het |
Cd33 |
G |
T |
7: 43,182,871 (GRCm39) |
|
probably benign |
Het |
Cdkl2 |
T |
A |
5: 92,170,010 (GRCm39) |
K324N |
probably damaging |
Het |
Celf6 |
A |
T |
9: 59,510,154 (GRCm39) |
T199S |
probably damaging |
Het |
Cmtm4 |
A |
C |
8: 105,081,798 (GRCm39) |
D196E |
probably benign |
Het |
Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
Col1a2 |
C |
A |
6: 4,535,451 (GRCm39) |
P921H |
unknown |
Het |
Crmp1 |
T |
C |
5: 37,399,490 (GRCm39) |
M1T |
probably null |
Het |
Dnah7a |
A |
T |
1: 53,543,262 (GRCm39) |
Y2303N |
probably damaging |
Het |
Dock10 |
G |
T |
1: 80,551,888 (GRCm39) |
T650K |
probably benign |
Het |
Eif1ad15 |
A |
G |
12: 88,288,170 (GRCm39) |
F28L |
probably benign |
Het |
Fam24a |
A |
G |
7: 130,938,269 (GRCm39) |
D53G |
probably benign |
Het |
Foxa2 |
A |
T |
2: 147,886,626 (GRCm39) |
M69K |
probably benign |
Het |
Gatad2a |
T |
A |
8: 70,362,585 (GRCm39) |
H601L |
probably damaging |
Het |
Gimap4 |
A |
C |
6: 48,667,539 (GRCm39) |
D98A |
probably damaging |
Het |
Gm14295 |
G |
T |
2: 176,501,623 (GRCm39) |
R371L |
possibly damaging |
Het |
Golim4 |
G |
T |
3: 75,785,435 (GRCm39) |
A652E |
probably benign |
Het |
Grid1 |
A |
G |
14: 34,748,899 (GRCm39) |
I240V |
probably benign |
Het |
Iqsec3 |
T |
A |
6: 121,390,272 (GRCm39) |
T400S |
unknown |
Het |
Itk |
G |
A |
11: 46,225,735 (GRCm39) |
R539C |
probably damaging |
Het |
Kif27 |
T |
A |
13: 58,473,912 (GRCm39) |
D695V |
possibly damaging |
Het |
Krt79 |
T |
C |
15: 101,839,441 (GRCm39) |
|
probably benign |
Het |
Lama2 |
C |
A |
10: 27,298,710 (GRCm39) |
V129L |
possibly damaging |
Het |
Lonrf1 |
C |
A |
8: 36,696,392 (GRCm39) |
E552D |
possibly damaging |
Het |
Mpp3 |
A |
G |
11: 101,891,491 (GRCm39) |
I549T |
probably benign |
Het |
Nat1 |
T |
C |
8: 67,944,394 (GRCm39) |
Y260H |
probably benign |
Het |
Nipal2 |
T |
A |
15: 34,648,983 (GRCm39) |
K69* |
probably null |
Het |
Nlrx1 |
G |
T |
9: 44,168,238 (GRCm39) |
|
probably benign |
Het |
Pde1b |
C |
A |
15: 103,429,852 (GRCm39) |
A115E |
probably benign |
Het |
Pde4dip |
A |
G |
3: 97,673,810 (GRCm39) |
Y369H |
probably damaging |
Het |
Pnpla7 |
A |
G |
2: 24,943,431 (GRCm39) |
Y1286C |
possibly damaging |
Het |
Poglut2 |
G |
T |
1: 44,151,924 (GRCm39) |
L322I |
possibly damaging |
Het |
Pramel5 |
T |
C |
4: 143,999,529 (GRCm39) |
E186G |
possibly damaging |
Het |
Qdpr |
C |
T |
5: 45,607,386 (GRCm39) |
G20D |
probably damaging |
Het |
Rmnd1 |
T |
G |
10: 4,357,918 (GRCm39) |
I364L |
probably benign |
Het |
Slc5a4a |
A |
T |
10: 76,022,369 (GRCm39) |
E568V |
probably benign |
Het |
Slc6a18 |
T |
A |
13: 73,816,390 (GRCm39) |
I330F |
probably benign |
Het |
Spesp1 |
T |
C |
9: 62,180,552 (GRCm39) |
T119A |
possibly damaging |
Het |
Sypl1 |
G |
A |
12: 33,025,662 (GRCm39) |
S242N |
probably benign |
Het |
Tbx18 |
G |
A |
9: 87,612,770 (GRCm39) |
T43M |
probably benign |
Het |
Tm7sf2 |
T |
A |
19: 6,113,956 (GRCm39) |
D263V |
probably damaging |
Het |
Trbv21 |
T |
C |
6: 41,179,924 (GRCm39) |
I80T |
probably damaging |
Het |
Ttc3 |
T |
A |
16: 94,228,667 (GRCm39) |
L747Q |
possibly damaging |
Het |
Ttll11 |
T |
C |
2: 35,707,813 (GRCm39) |
D498G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,583,714 (GRCm39) |
Y22431C |
probably null |
Het |
Ubtfl1 |
T |
A |
9: 18,321,637 (GRCm39) |
S388R |
|
Het |
Vmn2r118 |
A |
T |
17: 55,917,835 (GRCm39) |
L226I |
possibly damaging |
Het |
Wdr46 |
A |
G |
17: 34,168,156 (GRCm39) |
H576R |
probably benign |
Het |
Zfp426 |
A |
G |
9: 20,386,296 (GRCm39) |
F62L |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCCTCACGACTTTCAAAGTAC -3'
(R):5'- TGGGTAACATATCAGGGTCTCAATTC -3'
Sequencing Primer
(F):5'- TGTACTACAACGCTGGTG -3'
(R):5'- GGGATAGTATTTCAAGTCCCT -3'
|
Posted On |
2021-10-11 |