Incidental Mutation 'IGL02620:Raf1'
ID 300840
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Raf1
Ensembl Gene ENSMUSG00000000441
Gene Name v-raf-leukemia viral oncogene 1
Synonyms c-Raf, sarcoma 3611 oncogene, Craf1, Raf-1, v-Raf, 6430402F14Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02620
Quality Score
Status
Chromosome 6
Chromosomal Location 115595530-115653596 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 115609848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000000451] [ENSMUST00000112949]
AlphaFold Q99N57
Predicted Effect probably benign
Transcript: ENSMUST00000000451
SMART Domains Protein: ENSMUSP00000000451
Gene: ENSMUSG00000000441

DomainStartEndE-ValueType
RBD 56 131 6.95e-35 SMART
C1 139 184 1.2e-13 SMART
low complexity region 283 301 N/A INTRINSIC
Pfam:Pkinase 349 606 7.2e-61 PFAM
Pfam:Pkinase_Tyr 349 606 3.5e-65 PFAM
Pfam:Kinase-like 400 596 3.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112949
SMART Domains Protein: ENSMUSP00000108571
Gene: ENSMUSG00000000441

DomainStartEndE-ValueType
RBD 56 131 6.95e-35 SMART
C1 139 184 1.2e-13 SMART
low complexity region 283 301 N/A INTRINSIC
Pfam:Pkinase_Tyr 349 606 3.4e-64 PFAM
Pfam:Pkinase 349 608 1.1e-61 PFAM
Pfam:Kinase-like 399 596 2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130528
Predicted Effect probably benign
Transcript: ENSMUST00000147979
SMART Domains Protein: ENSMUSP00000115424
Gene: ENSMUSG00000000441

DomainStartEndE-ValueType
Blast:RBD 2 28 9e-7 BLAST
PDB:4IHL|P 36 71 1e-9 PDB
low complexity region 110 128 N/A INTRINSIC
PDB:3OMV|B 150 205 6e-33 PDB
SCOP:d1b6cb_ 153 205 3e-9 SMART
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 is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are growth retarded, with hypocellular fetal livers, placental anomalies, and defects of skin and lungs, resulting in lethality around mid-gestation. Mice heterozygous for a knock-in allele exhibit hypertrophic cardiomyopathy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,231,943 (GRCm39) probably null Het
Bltp1 T C 3: 37,090,094 (GRCm39) V4174A possibly damaging Het
Ccdc150 T A 1: 54,302,704 (GRCm39) L108* probably null Het
Cdon C T 9: 35,364,095 (GRCm39) T71I probably benign Het
Chdh T C 14: 29,753,096 (GRCm39) W2R probably damaging Het
Ckap5 T G 2: 91,436,714 (GRCm39) L1605V probably benign Het
Cluh C T 11: 74,555,893 (GRCm39) Q819* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cwc27 C A 13: 104,938,714 (GRCm39) probably benign Het
Elk4 C A 1: 131,946,109 (GRCm39) A329D probably benign Het
Fbxo40 T C 16: 36,786,442 (GRCm39) H709R probably benign Het
Flna A G X: 73,273,582 (GRCm39) probably benign Het
Grip2 G T 6: 91,755,587 (GRCm39) D592E possibly damaging Het
H2-T24 T G 17: 36,328,183 (GRCm39) N100T probably damaging Het
Hepacam2 C A 6: 3,487,280 (GRCm39) probably benign Het
Ighv2-2 T A 12: 113,551,912 (GRCm39) T109S possibly damaging Het
Ipo11 T C 13: 107,012,789 (GRCm39) probably null Het
Kcnh8 T C 17: 53,205,525 (GRCm39) M540T probably damaging Het
Kifc3 A G 8: 95,836,582 (GRCm39) S82P probably damaging Het
Map4k5 T C 12: 69,939,476 (GRCm39) Y20C probably benign Het
Milr1 C A 11: 106,645,744 (GRCm39) S95R probably damaging Het
Mtnr1b A C 9: 15,785,617 (GRCm39) V47G possibly damaging Het
Nme1nme2 G T 11: 93,843,682 (GRCm39) R173S possibly damaging Het
Or6a2 T A 7: 106,600,825 (GRCm39) K81* probably null Het
Phactr2 T C 10: 13,167,632 (GRCm39) R100G probably damaging Het
Potefam1 C T 2: 111,041,970 (GRCm39) V322I probably benign Het
Ppargc1b A G 18: 61,431,810 (GRCm39) Y997H probably damaging Het
Pramel3a A G X: 134,211,158 (GRCm39) M397V probably benign Het
Ptprz1 A G 6: 22,959,739 (GRCm39) K79E probably damaging Het
Rabgef1 T C 5: 130,219,863 (GRCm39) S109P probably damaging Het
Rptor T C 11: 119,671,413 (GRCm39) L292P probably benign Het
Slc25a45 A G 19: 5,934,554 (GRCm39) D174G probably damaging Het
Tbcd C T 11: 121,352,081 (GRCm39) T146M probably damaging Het
Zfp458 T A 13: 67,406,058 (GRCm39) H127L probably damaging Het
Other mutations in Raf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Raf1 APN 6 115,653,530 (GRCm39) unclassified probably benign
IGL02379:Raf1 APN 6 115,621,509 (GRCm39) missense probably benign
IGL02427:Raf1 APN 6 115,608,288 (GRCm39) missense probably benign
IGL02586:Raf1 APN 6 115,597,267 (GRCm39) missense probably damaging 0.98
P0028:Raf1 UTSW 6 115,608,166 (GRCm39) splice site probably benign
R0044:Raf1 UTSW 6 115,600,476 (GRCm39) missense probably benign 0.12
R0044:Raf1 UTSW 6 115,600,476 (GRCm39) missense probably benign 0.12
R0116:Raf1 UTSW 6 115,603,344 (GRCm39) missense probably damaging 1.00
R0147:Raf1 UTSW 6 115,609,934 (GRCm39) missense probably benign
R0148:Raf1 UTSW 6 115,609,934 (GRCm39) missense probably benign
R0554:Raf1 UTSW 6 115,600,491 (GRCm39) missense probably benign 0.05
R0811:Raf1 UTSW 6 115,603,671 (GRCm39) critical splice donor site probably null
R0812:Raf1 UTSW 6 115,603,671 (GRCm39) critical splice donor site probably null
R1070:Raf1 UTSW 6 115,614,660 (GRCm39) missense probably benign 0.00
R4261:Raf1 UTSW 6 115,600,015 (GRCm39) critical splice acceptor site probably null
R4669:Raf1 UTSW 6 115,609,880 (GRCm39) missense probably damaging 1.00
R4846:Raf1 UTSW 6 115,621,544 (GRCm39) missense possibly damaging 0.91
R5038:Raf1 UTSW 6 115,597,196 (GRCm39) nonsense probably null
R5214:Raf1 UTSW 6 115,614,583 (GRCm39) missense possibly damaging 0.82
R5472:Raf1 UTSW 6 115,603,667 (GRCm39) splice site probably null
R5511:Raf1 UTSW 6 115,597,217 (GRCm39) missense probably benign 0.32
R5539:Raf1 UTSW 6 115,596,317 (GRCm39) missense probably damaging 1.00
R5926:Raf1 UTSW 6 115,596,859 (GRCm39) missense probably benign 0.45
R6424:Raf1 UTSW 6 115,596,542 (GRCm39) missense probably benign 0.02
R6649:Raf1 UTSW 6 115,608,302 (GRCm39) missense probably benign 0.03
R7021:Raf1 UTSW 6 115,597,300 (GRCm39) splice site probably null
R7969:Raf1 UTSW 6 115,597,249 (GRCm39) missense probably damaging 1.00
R9182:Raf1 UTSW 6 115,600,440 (GRCm39) missense probably damaging 1.00
R9614:Raf1 UTSW 6 115,596,597 (GRCm39) missense probably benign
Posted On 2015-04-16