Incidental Mutation 'R4407:Braf'
| ID |
327706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Braf
|
| Ensembl Gene |
ENSMUSG00000002413 |
| Gene Name |
Braf transforming gene |
| Synonyms |
D6Ertd631e, 9930012E13Rik, Braf2, Braf-2 |
| MMRRC Submission |
041689-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4407 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
39580171-39702397 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 39592654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 674
(K674Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002487]
[ENSMUST00000101497]
|
| AlphaFold |
P28028 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002487
AA Change: K727Q
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000002487
Gene: ENSMUSG00000002413
AA Change: K727Q
| 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: K674Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099036
Gene: ENSMUSG00000002413
AA Change: K674Q
| 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 |
0.6317 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (61/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830035A12Rik |
T |
C |
11: 107,422,881 (GRCm39) |
|
noncoding transcript |
Het |
| Bbs10 |
A |
G |
10: 111,135,720 (GRCm39) |
T278A |
probably benign |
Het |
| Bcl6b |
A |
G |
11: 70,116,929 (GRCm39) |
L450P |
probably damaging |
Het |
| Cep112 |
C |
T |
11: 108,410,027 (GRCm39) |
T481I |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,772,514 (GRCm39) |
M633K |
probably benign |
Het |
| Cpped1 |
T |
C |
16: 11,623,285 (GRCm39) |
Y278C |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,061,878 (GRCm39) |
|
probably null |
Het |
| Dolpp1 |
C |
T |
2: 30,286,464 (GRCm39) |
A128V |
possibly damaging |
Het |
| E2f5 |
T |
A |
3: 14,668,823 (GRCm39) |
D238E |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,012,689 (GRCm39) |
D2328V |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Fkbp3 |
T |
C |
12: 65,116,778 (GRCm39) |
T53A |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,176 (GRCm39) |
G1449C |
unknown |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Glyctk |
A |
T |
9: 106,034,307 (GRCm39) |
|
probably benign |
Het |
| Gm6430 |
T |
C |
1: 96,953,297 (GRCm39) |
|
noncoding transcript |
Het |
| Golga1 |
C |
A |
2: 38,909,653 (GRCm39) |
|
probably null |
Het |
| Gucy2g |
A |
T |
19: 55,226,269 (GRCm39) |
F216I |
probably benign |
Het |
| L3mbtl3 |
A |
G |
10: 26,189,782 (GRCm39) |
V494A |
unknown |
Het |
| Lama2 |
AATCAGACAGGAG |
A |
10: 27,088,124 (GRCm39) |
|
probably benign |
Het |
| Lemd3 |
A |
T |
10: 120,761,335 (GRCm39) |
L907Q |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,332,861 (GRCm39) |
V1552D |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,524,664 (GRCm39) |
D665E |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Or4p7 |
A |
T |
2: 88,222,427 (GRCm39) |
M279L |
probably benign |
Het |
| Pcdhac2 |
G |
T |
18: 37,277,499 (GRCm39) |
V160L |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,210,704 (GRCm39) |
E2473G |
possibly damaging |
Het |
| Pitpnm2 |
T |
A |
5: 124,290,678 (GRCm39) |
I3L |
possibly damaging |
Het |
| Prkd3 |
C |
A |
17: 79,290,987 (GRCm39) |
W176L |
probably damaging |
Het |
| Prpf39 |
C |
T |
12: 65,103,040 (GRCm39) |
A438V |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,384,856 (GRCm39) |
F655I |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,880,990 (GRCm39) |
Y147C |
probably damaging |
Het |
| Sec23b |
A |
T |
2: 144,416,638 (GRCm39) |
N429Y |
possibly damaging |
Het |
| Slc2a10 |
T |
A |
2: 165,356,684 (GRCm39) |
S115T |
probably damaging |
Het |
| Spg11 |
A |
C |
2: 121,905,813 (GRCm39) |
D1277E |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,437,454 (GRCm39) |
D1279G |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,898,061 (GRCm39) |
I621T |
probably benign |
Het |
| Tbc1d31 |
T |
A |
15: 57,783,438 (GRCm39) |
D112E |
possibly damaging |
Het |
| Tdpoz6 |
C |
A |
3: 93,599,419 (GRCm39) |
V317L |
probably benign |
Het |
| Tgm4 |
A |
T |
9: 122,885,595 (GRCm39) |
D379V |
probably damaging |
Het |
| Thyn1 |
A |
T |
9: 26,914,893 (GRCm39) |
D15V |
possibly damaging |
Het |
| Timd6 |
A |
G |
11: 46,468,207 (GRCm39) |
T94A |
probably damaging |
Het |
| Tm4sf19 |
T |
C |
16: 32,226,712 (GRCm39) |
V167A |
possibly damaging |
Het |
| Trim38 |
A |
C |
13: 23,975,474 (GRCm39) |
Q471P |
probably benign |
Het |
| Trmt1 |
T |
A |
8: 85,424,384 (GRCm39) |
|
probably benign |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,336,375 (GRCm39) |
I1500V |
probably benign |
Het |
| Vgll4 |
C |
T |
6: 114,867,573 (GRCm39) |
|
probably null |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,441 (GRCm39) |
N225K |
probably damaging |
Het |
| Vmn2r22 |
C |
T |
6: 123,614,913 (GRCm39) |
G226R |
probably damaging |
Het |
| Wnk3 |
C |
A |
X: 150,016,209 (GRCm39) |
P555Q |
probably benign |
Het |
| Yes1 |
T |
G |
5: 32,797,929 (GRCm39) |
Y83D |
possibly damaging |
Het |
| Zdhhc15 |
G |
A |
X: 103,604,294 (GRCm39) |
R322* |
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCATCTGGACCTTCAGG -3'
(R):5'- AGGCCAGACATTAGCACTG -3'
Sequencing Primer
(F):5'- TTCAGGGTCCCAACTCAAAAC -3'
(R):5'- AGGCCAGACATTAGCACTGTTTTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation