Incidental Mutation 'IGL02586:Raf1'
ID299545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Raf1
Ensembl Gene ENSMUSG00000000441
Gene Namev-raf-leukemia viral oncogene 1
Synonyms6430402F14Rik, Craf1, sarcoma 3611 oncogene, c-Raf, v-Raf, Raf-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02586
Quality Score
Status
Chromosome6
Chromosomal Location115618067-115676635 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115620306 bp
ZygosityHeterozygous
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]
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 noncoding transcript
Transcript: ENSMUST00000203276
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: ENSMUST00000203826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204512
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
4932438A13Rik G A 3: 37,044,608 W4626* probably null Het
Abca13 A G 11: 9,293,983 I1949V possibly damaging Het
Anapc2 T A 2: 25,285,096 M742K probably benign Het
Arhgef12 T A 9: 43,005,904 K380* probably null Het
Armc1 G T 3: 19,134,028 probably benign Het
Diaph3 A T 14: 86,986,076 L323* probably null Het
Fbxo11 C T 17: 88,011,283 probably benign Het
Flywch1 C T 17: 23,755,702 A655T probably benign Het
Frmpd1 A G 4: 45,285,160 D1327G probably damaging Het
Ggact G A 14: 122,891,530 T91I possibly damaging Het
Gm10250 T A 15: 5,120,930 probably benign Het
Gsdmc4 T C 15: 63,893,792 S303G probably damaging Het
Helt T C 8: 46,293,239 E15G probably damaging Het
Kcnf1 T A 12: 17,176,143 S26C probably benign Het
Lilra6 T C 7: 3,908,820 T280A probably benign Het
Lipo3 A T 19: 33,582,139 D110E possibly damaging Het
Mepe C A 5: 104,337,450 T152N probably benign Het
Nr2f1 C A 13: 78,195,156 probably benign Het
Olfr807 A G 10: 129,754,655 I265T possibly damaging Het
Olfr994 T C 2: 85,430,466 D121G possibly damaging Het
Peg3 T C 7: 6,710,069 D718G probably benign Het
Phf2 A T 13: 48,813,858 probably benign Het
Pigc A T 1: 161,970,934 I162F probably benign Het
Rlf T C 4: 121,150,064 Y573C probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rnf149 T G 1: 39,565,215 Q189P probably benign Het
Slc11a1 T C 1: 74,385,132 probably benign Het
Slc22a12 C T 19: 6,540,457 M234I probably benign Het
Slc28a1 A T 7: 81,164,419 I455F probably benign Het
Slc35f5 T G 1: 125,584,536 L358V probably damaging Het
Slc47a1 A T 11: 61,344,321 V562D probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ushbp1 T C 8: 71,388,750 probably benign Het
Vmn1r88 T A 7: 13,177,808 Y30* probably null Het
Vmn2r27 A T 6: 124,224,475 Y174* probably null Het
Wwox T C 8: 114,712,207 Y338H possibly damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zufsp A T 10: 33,935,265 probably benign Het
Other mutations in Raf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Raf1 APN 6 115676569 unclassified probably benign
IGL02379:Raf1 APN 6 115644548 missense probably benign
IGL02427:Raf1 APN 6 115631327 missense probably benign
IGL02620:Raf1 APN 6 115632887 splice site probably benign
P0028:Raf1 UTSW 6 115631205 splice site probably benign
R0044:Raf1 UTSW 6 115623515 missense probably benign 0.12
R0044:Raf1 UTSW 6 115623515 missense probably benign 0.12
R0116:Raf1 UTSW 6 115626383 missense probably damaging 1.00
R0147:Raf1 UTSW 6 115632973 missense probably benign
R0148:Raf1 UTSW 6 115632973 missense probably benign
R0554:Raf1 UTSW 6 115623530 missense probably benign 0.05
R0811:Raf1 UTSW 6 115626710 critical splice donor site probably null
R0812:Raf1 UTSW 6 115626710 critical splice donor site probably null
R1070:Raf1 UTSW 6 115637699 missense probably benign 0.00
R4261:Raf1 UTSW 6 115623054 critical splice acceptor site probably null
R4669:Raf1 UTSW 6 115632919 missense probably damaging 1.00
R4846:Raf1 UTSW 6 115644583 missense possibly damaging 0.91
R5038:Raf1 UTSW 6 115620235 nonsense probably null
R5214:Raf1 UTSW 6 115637622 missense possibly damaging 0.82
R5472:Raf1 UTSW 6 115626706 splice site probably null
R5511:Raf1 UTSW 6 115620256 missense probably benign 0.32
R5539:Raf1 UTSW 6 115619356 missense probably damaging 1.00
R5926:Raf1 UTSW 6 115619898 missense probably benign 0.45
R6424:Raf1 UTSW 6 115619581 missense probably benign 0.02
R6649:Raf1 UTSW 6 115631341 missense probably benign 0.03
R7021:Raf1 UTSW 6 115620339 splice site probably null
Posted On2015-04-16