Incidental Mutation 'IGL02435:Braf'
ID 293260
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) question?
Stock # IGL02435
Quality Score
Status
Chromosome 6
Chromosomal Location 39580171-39702397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 39623700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 414 (S414N)
Ref Sequence ENSEMBL: ENSMUSP00000002487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002487] [ENSMUST00000101497]
AlphaFold P28028
Predicted Effect probably benign
Transcript: ENSMUST00000002487
AA Change: S414N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000002487
Gene: ENSMUSG00000002413
AA Change: S414N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000167073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167169
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph A G 13: 19,323,333 (GRCm39) probably benign Het
Ankrd12 G T 17: 66,294,151 (GRCm39) S427R probably damaging Het
Atp4a A G 7: 30,416,482 (GRCm39) T420A probably benign Het
C1rl T C 6: 124,485,832 (GRCm39) L401P probably damaging Het
Ecpas A G 4: 58,830,325 (GRCm39) probably benign Het
Elmo1 A T 13: 20,773,826 (GRCm39) D612V probably damaging Het
Fbxo15 T C 18: 84,977,351 (GRCm39) S88P probably damaging Het
Glrx3 A G 7: 137,063,125 (GRCm39) N132S possibly damaging Het
Hamp G T 7: 30,643,324 (GRCm39) Q29K probably benign Het
Igfbp2 G A 1: 72,891,245 (GRCm39) R281Q probably damaging Het
Itih3 C T 14: 30,637,711 (GRCm39) A483T probably damaging Het
Mrc1 C T 2: 14,253,671 (GRCm39) Q231* probably null Het
Nif3l1 A G 1: 58,487,020 (GRCm39) T69A possibly damaging Het
Ntrk1 A G 3: 87,696,039 (GRCm39) F157S probably benign Het
Or2ag1b A G 7: 106,288,710 (GRCm39) V76A probably benign Het
Or4a72 A G 2: 89,405,890 (GRCm39) F60S probably damaging Het
Or5b97 A T 19: 12,878,391 (GRCm39) I251N probably damaging Het
Pck2 T C 14: 55,781,847 (GRCm39) probably benign Het
Pdgfrb T C 18: 61,197,998 (GRCm39) probably null Het
Ric8b A G 10: 84,815,940 (GRCm39) N194S probably benign Het
Rlbp1 A G 7: 79,031,414 (GRCm39) F105L probably damaging Het
Sde2 G T 1: 180,693,717 (GRCm39) K402N probably damaging Het
Slc13a3 T C 2: 165,250,860 (GRCm39) H461R possibly damaging Het
Spag17 A T 3: 99,889,760 (GRCm39) I210F possibly damaging Het
Szt2 G A 4: 118,248,020 (GRCm39) R735W probably damaging Het
Tspan6 T C X: 132,793,493 (GRCm39) Y186C probably benign Het
Ugt8a A G 3: 125,660,969 (GRCm39) S508P probably benign Het
Zfp217 T C 2: 169,961,373 (GRCm39) D318G possibly damaging Het
Other mutations in Braf
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16