Incidental Mutation 'IGL01825:Braf'
ID 154648
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 # IGL01825
Quality Score
Status
Chromosome 6
Chromosomal Location 39580171-39702397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39616524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 549 (D549G)
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: D602G

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000002487
Gene: ENSMUSG00000002413
AA Change: D602G

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 damaging
Transcript: ENSMUST00000101497
AA Change: D549G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099036
Gene: ENSMUSG00000002413
AA Change: D549G

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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 A G 3: 98,069,217 (GRCm39) E222G probably damaging Het
Aftph T A 11: 20,676,569 (GRCm39) I347F possibly damaging Het
Cnbd2 T A 2: 156,180,629 (GRCm39) L142Q probably damaging Het
Ctbp1 C T 5: 33,416,477 (GRCm39) probably null Het
Cuta T C 17: 27,157,438 (GRCm39) I98V probably benign Het
Dip2a A T 10: 76,108,514 (GRCm39) C1226* probably null Het
Dnah6 T C 6: 73,042,759 (GRCm39) E3221G probably damaging Het
Grm3 A G 5: 9,561,600 (GRCm39) L750P probably damaging Het
Herc1 T C 9: 66,307,089 (GRCm39) Y970H probably benign Het
Hnrnpr T A 4: 136,066,850 (GRCm39) Y470* probably null Het
Kmt2c T A 5: 25,515,594 (GRCm39) I2750F probably damaging Het
Lrig3 A T 10: 125,845,886 (GRCm39) T772S probably damaging Het
Mthfd2 T C 6: 83,287,493 (GRCm39) T191A probably benign Het
Or5p78 C A 7: 108,212,261 (GRCm39) T249K probably damaging Het
Pfkp A T 13: 6,671,014 (GRCm39) N175K probably damaging Het
Plcz1 T C 6: 139,949,642 (GRCm39) D451G probably benign Het
Plxna2 T A 1: 194,471,210 (GRCm39) C994S probably damaging Het
Ptdss1 T C 13: 67,135,886 (GRCm39) I381T probably benign Het
Scgb2b24 G T 7: 33,438,652 (GRCm39) T20K probably damaging Het
Slc23a1 A T 18: 35,757,256 (GRCm39) W272R probably damaging Het
Tcf20 G A 15: 82,737,167 (GRCm39) T1428I probably benign Het
Tnfsf9 A G 17: 57,414,335 (GRCm39) D254G possibly damaging Het
Ttc4 C T 4: 106,528,816 (GRCm39) probably null Het
Xdh A G 17: 74,198,240 (GRCm39) Y1216H probably damaging Het
Zbtb21 G T 16: 97,753,889 (GRCm39) N159K 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
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 2014-02-04