Incidental Mutation 'R5539:Raf1'
ID 435819
Institutional Source Beutler Lab
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
MMRRC Submission 043097-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5539 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 115595530-115653596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 115596317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 619 (S619R)
Ref Sequence ENSEMBL: ENSMUSP00000108571 (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 probably damaging
Transcript: ENSMUST00000000451
AA Change: S619R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000451
Gene: ENSMUSG00000000441
AA Change: S619R

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 damaging
Transcript: ENSMUST00000112949
AA Change: S619R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108571
Gene: ENSMUSG00000000441
AA Change: S619R

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 noncoding transcript
Transcript: ENSMUST00000203276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204512
Predicted Effect probably benign
Transcript: ENSMUST00000203142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203826
Predicted Effect probably benign
Transcript: ENSMUST00000203759
SMART Domains Protein: ENSMUSP00000145520
Gene: ENSMUSG00000000441

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 58 1e-6 PFAM
Pfam:Pkinase 1 60 1e-7 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A T 16: 88,555,917 (GRCm39) S44C probably damaging Het
Abca4 A G 3: 121,963,557 (GRCm39) I846V probably damaging Het
Aldh4a1 T C 4: 139,365,833 (GRCm39) S275P probably benign Het
Arhgap12 A T 18: 6,111,932 (GRCm39) L144H probably benign Het
Ccdc141 A T 2: 76,845,437 (GRCm39) I1210N probably damaging Het
Ccdc175 T C 12: 72,191,587 (GRCm39) T330A probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dnah17 T C 11: 117,964,486 (GRCm39) K2444E probably benign Het
Dnajc3 G A 14: 119,208,159 (GRCm39) V265M probably damaging Het
Flg2 T A 3: 93,127,753 (GRCm39) Y2222N unknown Het
Flnc G T 6: 29,446,229 (GRCm39) G882V probably damaging Het
Fndc5 T A 4: 129,032,514 (GRCm39) V39D probably damaging Het
Gabrr3 A T 16: 59,281,758 (GRCm39) H371L probably benign Het
Gm10717 A T 9: 3,030,438 (GRCm39) H33L probably damaging Het
Gm5422 A G 10: 31,124,646 (GRCm39) noncoding transcript Het
Kri1 G A 9: 21,190,668 (GRCm39) Q280* probably null Het
Lcp1 T C 14: 75,466,738 (GRCm39) V615A probably benign Het
Ltbp4 T C 7: 27,027,149 (GRCm39) Y407C probably damaging Het
Med30 G T 15: 52,584,462 (GRCm39) D127Y probably damaging Het
Mybpc2 A G 7: 44,164,317 (GRCm39) V416A probably benign Het
Notch2 C T 3: 98,044,898 (GRCm39) R1607C probably damaging Het
Nr4a3 T A 4: 48,056,525 (GRCm39) probably null Het
Ntf5 G T 7: 45,065,354 (GRCm39) R162L probably benign Het
Nxpe3 A G 16: 55,711,034 (GRCm39) W2R possibly damaging Het
Or10d1c T C 9: 38,893,573 (GRCm39) I256V possibly damaging Het
Or14j4 T A 17: 37,921,646 (GRCm39) M1L probably benign Het
Or1m1 G A 9: 18,666,134 (GRCm39) R266C probably damaging Het
Or5p58 A T 7: 107,694,433 (GRCm39) C115S probably benign Het
Pan2 C A 10: 128,144,002 (GRCm39) D99E probably benign Het
Pcdh12 T C 18: 38,414,797 (GRCm39) H776R possibly damaging Het
Prdm2 T C 4: 142,859,264 (GRCm39) H1342R possibly damaging Het
Prpf8 A G 11: 75,394,464 (GRCm39) T1800A probably benign Het
Prss40 T C 1: 34,591,760 (GRCm39) *148W probably null Het
Pygo1 C T 9: 72,852,061 (GRCm39) P83S probably damaging Het
Rtf1 A G 2: 119,560,405 (GRCm39) M596V possibly damaging Het
Slc12a5 T A 2: 164,829,126 (GRCm39) D578E possibly damaging Het
Slc35b4 A G 6: 34,153,737 (GRCm39) V18A probably damaging Het
Spata31 T A 13: 65,070,783 (GRCm39) I977K probably benign Het
Tor2a T C 2: 32,650,672 (GRCm39) I222T probably damaging Het
Trim23 T C 13: 104,334,541 (GRCm39) V347A probably damaging Het
Trip11 A G 12: 101,851,386 (GRCm39) S893P probably damaging Het
Trmt10c G A 16: 55,855,324 (GRCm39) P104S probably damaging Het
Ubr3 A T 2: 69,850,877 (GRCm39) Y1765F probably damaging Het
Zfp951 C T 5: 104,962,712 (GRCm39) E285K 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTAGGTCCTTAGCAGCAGC -3'
(R):5'- TTCCCCAGGTTAGAGAGCTC -3'

Sequencing Primer
(F):5'- GCTTTTCCAAAAACATGCATTCTGC -3'
(R):5'- CCCAGGTTAGAGAGCTCAGTTG -3'
Posted On 2016-10-24