Incidental Mutation 'IGL02427:Raf1'
ID 292943
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 # IGL02427
Quality Score
Status
Chromosome 6
Chromosomal Location 115595530-115653596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115608288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 241 (N241S)
Ref Sequence ENSEMBL: ENSMUSP00000108571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000451] [ENSMUST00000112949]
AlphaFold Q99N57
Predicted Effect probably benign
Transcript: ENSMUST00000000451
AA Change: N241S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000451
Gene: ENSMUSG00000000441
AA Change: N241S

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
AA Change: N241S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108571
Gene: ENSMUSG00000000441
AA Change: N241S

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 unknown
Transcript: ENSMUST00000147979
AA Change: N47S
SMART Domains Protein: ENSMUSP00000115424
Gene: ENSMUSG00000000441
AA Change: N47S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203826
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik C T 5: 99,381,829 (GRCm39) G311D probably damaging Het
Ablim1 A T 19: 57,068,312 (GRCm39) probably benign Het
Adgrg2 T C X: 159,274,400 (GRCm39) F863S probably damaging Het
B3galt2 A T 1: 143,522,254 (GRCm39) H130L probably benign Het
Bbs2 G A 8: 94,807,746 (GRCm39) P378S possibly damaging Het
Ccdc154 A T 17: 25,390,731 (GRCm39) probably null Het
Ccdc88c C T 12: 100,887,851 (GRCm39) C1543Y probably damaging Het
Cdcp3 T A 7: 130,846,517 (GRCm39) V647E probably damaging Het
Cfap77 A T 2: 28,845,592 (GRCm39) C258* probably null Het
Cpsf4l T G 11: 113,600,324 (GRCm39) probably benign Het
Csrnp3 G A 2: 65,708,380 (GRCm39) probably benign Het
Cul9 G A 17: 46,813,558 (GRCm39) T2305I possibly damaging Het
Cwf19l1 G A 19: 44,121,462 (GRCm39) Q29* probably null Het
Cwf19l2 G T 9: 3,456,817 (GRCm39) V717L probably benign Het
Cyp1a1 A G 9: 57,607,858 (GRCm39) Y162C probably damaging Het
Dlg5 T C 14: 24,216,275 (GRCm39) D589G probably damaging Het
Dmbt1 G T 7: 130,689,815 (GRCm39) probably null Het
Dtna T C 18: 23,784,595 (GRCm39) Y705H possibly damaging Het
Fancd2 T A 6: 113,526,313 (GRCm39) probably null Het
Frem2 T A 3: 53,443,184 (GRCm39) N2527Y probably damaging Het
Gm7694 T C 1: 170,130,113 (GRCm39) D95G probably benign Het
Haus5 T C 7: 30,361,196 (GRCm39) T115A probably benign Het
Kdm3a A T 6: 71,569,184 (GRCm39) probably benign Het
Klra6 T C 6: 129,993,680 (GRCm39) D197G possibly damaging Het
Lap3 T C 5: 45,668,475 (GRCm39) V429A probably damaging Het
Mroh2b G T 15: 4,981,042 (GRCm39) probably benign Het
Myh9 T A 15: 77,660,004 (GRCm39) Q88L probably damaging Het
Myo5a T C 9: 75,083,900 (GRCm39) probably benign Het
Negr1 C T 3: 156,267,827 (GRCm39) probably benign Het
Niban1 A T 1: 151,593,025 (GRCm39) D570V probably damaging Het
Nlrp9b T G 7: 19,776,426 (GRCm39) C337W probably damaging Het
Obscn A T 11: 58,957,988 (GRCm39) C3780S probably damaging Het
Or1e19 A T 11: 73,316,487 (GRCm39) F107L probably damaging Het
Piwil2 T A 14: 70,635,583 (GRCm39) probably benign Het
Ppp6r3 T C 19: 3,516,580 (GRCm39) S213G probably null Het
Pxdn T A 12: 30,034,531 (GRCm39) C39S probably damaging Het
Rapgef3 A T 15: 97,645,017 (GRCm39) probably null Het
Rhox2h C T X: 36,854,526 (GRCm39) G72D probably benign Het
Sbf1 T C 15: 89,190,188 (GRCm39) probably benign Het
Sema5a T C 15: 32,673,690 (GRCm39) probably benign Het
Setbp1 T C 18: 78,900,688 (GRCm39) D993G probably damaging Het
Slc5a4b A T 10: 75,894,713 (GRCm39) C598S possibly damaging Het
Sorl1 T C 9: 41,952,986 (GRCm39) D685G probably damaging Het
Sulf2 C T 2: 165,931,218 (GRCm39) R263H probably damaging Het
Tbx22 C A X: 106,724,777 (GRCm39) P17T probably damaging Het
Tspoap1 A T 11: 87,653,341 (GRCm39) T136S probably benign Het
Tyw5 T C 1: 57,427,884 (GRCm39) E240G possibly damaging Het
Umodl1 C T 17: 31,187,415 (GRCm39) probably benign Het
Vmn1r60 T C 7: 5,547,780 (GRCm39) T107A probably damaging Het
Zbbx T C 3: 75,046,905 (GRCm39) T121A probably benign Het
Zbtb11 A G 16: 55,802,713 (GRCm39) D241G possibly damaging Het
Zfp445 T C 9: 122,681,295 (GRCm39) H882R probably benign Het
Zscan30 T C 18: 24,104,533 (GRCm39) noncoding transcript 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
IGL02586:Raf1 APN 6 115,597,267 (GRCm39) missense probably damaging 0.98
IGL02620:Raf1 APN 6 115,609,848 (GRCm39) splice site probably benign
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