Incidental Mutation 'IGL02586:Raf1'
ID 299545
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 # IGL02586
Quality Score
Status
Chromosome 6
Chromosomal Location 115595530-115653596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115597267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 11 (L11P)
Ref Sequence ENSEMBL: ENSMUSP00000145520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000449] [ENSMUST00000000451] [ENSMUST00000112949] [ENSMUST00000203759]
AlphaFold Q99N57
Predicted Effect probably benign
Transcript: ENSMUST00000000449
SMART Domains Protein: ENSMUSP00000000449
Gene: ENSMUSG00000000439

DomainStartEndE-ValueType
ZnF_C3H1 2 28 5.02e-6 SMART
ZnF_C3H1 32 57 1.75e-5 SMART
low complexity region 58 85 N/A INTRINSIC
ZnF_C3H1 165 191 2.79e-4 SMART
RING 238 291 5.82e-6 SMART
ZnF_C3H1 322 349 5.5e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000000451
AA Change: L480P

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000451
Gene: ENSMUSG00000000441
AA Change: L480P

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 possibly damaging
Transcript: ENSMUST00000112949
AA Change: L480P

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108571
Gene: ENSMUSG00000000441
AA Change: L480P

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: 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
Predicted Effect unknown
Transcript: ENSMUST00000203142
AA Change: S116P
Predicted Effect probably damaging
Transcript: ENSMUST00000203759
AA Change: L11P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145520
Gene: ENSMUSG00000000441
AA Change: L11P

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 58 1e-6 PFAM
Pfam:Pkinase 1 60 1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203276
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,983 (GRCm39) I1949V possibly damaging Het
Anapc2 T A 2: 25,175,108 (GRCm39) M742K probably benign Het
Arhgef12 T A 9: 42,917,200 (GRCm39) K380* probably null Het
Armc1 G T 3: 19,188,192 (GRCm39) probably benign Het
Bltp1 G A 3: 37,098,757 (GRCm39) W4626* probably null Het
Diaph3 A T 14: 87,223,512 (GRCm39) L323* probably null Het
Fbxo11 C T 17: 88,318,711 (GRCm39) probably benign Het
Flywch1 C T 17: 23,974,676 (GRCm39) A655T probably benign Het
Frmpd1 A G 4: 45,285,160 (GRCm39) D1327G probably damaging Het
Ggact G A 14: 123,128,942 (GRCm39) T91I possibly damaging Het
Gm10250 T A 15: 5,150,412 (GRCm39) probably benign Het
Gsdmc4 T C 15: 63,765,641 (GRCm39) S303G probably damaging Het
Helt T C 8: 46,746,276 (GRCm39) E15G probably damaging Het
Kcnf1 T A 12: 17,226,144 (GRCm39) S26C probably benign Het
Lilra6 T C 7: 3,911,819 (GRCm39) T280A probably benign Het
Lipo3 A T 19: 33,559,539 (GRCm39) D110E possibly damaging Het
Mepe C A 5: 104,485,316 (GRCm39) T152N probably benign Het
Nr2f1 C A 13: 78,343,275 (GRCm39) probably benign Het
Or5ak24 T C 2: 85,260,810 (GRCm39) D121G possibly damaging Het
Or6c214 A G 10: 129,590,524 (GRCm39) I265T possibly damaging Het
Peg3 T C 7: 6,713,068 (GRCm39) D718G probably benign Het
Phf2 A T 13: 48,967,334 (GRCm39) probably benign Het
Pigc A T 1: 161,798,503 (GRCm39) I162F probably benign Het
Rlf T C 4: 121,007,261 (GRCm39) Y573C probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rnf149 T G 1: 39,604,296 (GRCm39) Q189P probably benign Het
Slc11a1 T C 1: 74,424,291 (GRCm39) probably benign Het
Slc22a12 C T 19: 6,590,487 (GRCm39) M234I probably benign Het
Slc28a1 A T 7: 80,814,167 (GRCm39) I455F probably benign Het
Slc35f5 T G 1: 125,512,273 (GRCm39) L358V probably damaging Het
Slc47a1 A T 11: 61,235,147 (GRCm39) V562D probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ushbp1 T C 8: 71,841,394 (GRCm39) probably benign Het
Vmn1r88 T A 7: 12,911,735 (GRCm39) Y30* probably null Het
Vmn2r27 A T 6: 124,201,434 (GRCm39) Y174* probably null Het
Wwox T C 8: 115,438,947 (GRCm39) Y338H possibly damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zup1 A T 10: 33,811,261 (GRCm39) probably benign 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
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