Incidental Mutation 'IGL02751:Braf'
| ID |
306316 |
| 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 # |
IGL02751
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
39580171-39702397 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 39637801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002487]
[ENSMUST00000101497]
|
| AlphaFold |
P28028 |
| Predicted Effect |
probably benign
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 benign
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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1a |
A |
T |
14: 66,964,981 (GRCm39) |
I324F |
possibly damaging |
Het |
| Ago2 |
G |
A |
15: 73,002,746 (GRCm39) |
A162V |
possibly damaging |
Het |
| Aox4 |
G |
T |
1: 58,298,211 (GRCm39) |
R1059I |
probably damaging |
Het |
| AU021092 |
C |
A |
16: 5,030,483 (GRCm39) |
V304L |
probably damaging |
Het |
| Bcs1l |
T |
G |
1: 74,628,775 (GRCm39) |
F20V |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,296,581 (GRCm39) |
C1200R |
probably damaging |
Het |
| Ccdc116 |
T |
A |
16: 16,959,836 (GRCm39) |
R284S |
probably benign |
Het |
| Cntnap5a |
T |
G |
1: 116,112,187 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,521,141 (GRCm39) |
|
probably benign |
Het |
| Cpa4 |
T |
A |
6: 30,581,739 (GRCm39) |
Y229N |
probably damaging |
Het |
| Fbp1 |
A |
C |
13: 63,022,957 (GRCm39) |
|
probably null |
Het |
| Gimap3 |
A |
T |
6: 48,742,172 (GRCm39) |
W253R |
probably benign |
Het |
| Gm1330 |
G |
A |
2: 148,832,393 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,404,093 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,814,482 (GRCm39) |
T338A |
probably benign |
Het |
| Hmg20b |
A |
T |
10: 81,182,385 (GRCm39) |
|
probably benign |
Het |
| Hnrnpdl |
A |
G |
5: 100,185,833 (GRCm39) |
F151L |
probably damaging |
Het |
| Klhl30 |
T |
A |
1: 91,281,821 (GRCm39) |
F141I |
probably damaging |
Het |
| Lamc3 |
T |
A |
2: 31,810,716 (GRCm39) |
F862Y |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,662,138 (GRCm39) |
C313R |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,363,806 (GRCm39) |
T344A |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,778,251 (GRCm39) |
E2023G |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,931,243 (GRCm39) |
K735N |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,562,118 (GRCm39) |
T185A |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,306 (GRCm39) |
C70R |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,813,434 (GRCm39) |
K145R |
probably benign |
Het |
| Pde1c |
T |
C |
6: 56,158,673 (GRCm39) |
T52A |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,019,076 (GRCm39) |
S802P |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prep |
T |
A |
10: 44,991,282 (GRCm39) |
I316N |
probably damaging |
Het |
| Prl3d2 |
G |
A |
13: 27,310,014 (GRCm39) |
|
probably null |
Het |
| Pygo1 |
A |
T |
9: 72,852,319 (GRCm39) |
I169F |
probably benign |
Het |
| Rnf10 |
G |
T |
5: 115,380,725 (GRCm39) |
A716E |
probably benign |
Het |
| Rtn4 |
G |
A |
11: 29,656,409 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,778,199 (GRCm39) |
V2099E |
probably damaging |
Het |
| Slc48a1 |
G |
A |
15: 97,687,961 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,918,110 (GRCm39) |
Y364* |
probably null |
Het |
| Syt3 |
A |
T |
7: 44,035,486 (GRCm39) |
D31V |
possibly damaging |
Het |
| Tango2 |
G |
T |
16: 18,125,857 (GRCm39) |
P143H |
probably benign |
Het |
| Tas2r104 |
A |
G |
6: 131,662,107 (GRCm39) |
S201P |
probably damaging |
Het |
| Tas2r107 |
G |
A |
6: 131,636,447 (GRCm39) |
L201F |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,374 (GRCm39) |
L78Q |
probably damaging |
Het |
| Vmn2r18 |
T |
A |
5: 151,508,072 (GRCm39) |
T351S |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation