Incidental Mutation 'IGL02244:Araf'
ID286124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Araf
Ensembl Gene ENSMUSG00000001127
Gene NameAraf proto-oncogene, serine/threonine kinase
Synonyms1200013E08Rik, Araf1, A-Raf
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.461) question?
Stock #IGL02244
Quality Score
Status
ChromosomeX
Chromosomal Location20797814-20860519 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 20853596 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001155] [ENSMUST00000120356] [ENSMUST00000122312] [ENSMUST00000122850] [ENSMUST00000136451]
Predicted Effect probably benign
Transcript: ENSMUST00000001155
SMART Domains Protein: ENSMUSP00000001155
Gene: ENSMUSG00000001127

DomainStartEndE-ValueType
RBD 19 91 1.46e-28 SMART
C1 99 144 7.68e-12 SMART
low complexity region 243 268 N/A INTRINSIC
Pfam:Pkinase_Tyr 308 565 1.9e-61 PFAM
Pfam:Pkinase 308 566 1.7e-56 PFAM
Pfam:Kinase-like 388 555 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120356
SMART Domains Protein: ENSMUSP00000112513
Gene: ENSMUSG00000001127

DomainStartEndE-ValueType
RBD 19 91 1.46e-28 SMART
C1 99 144 7.68e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122312
SMART Domains Protein: ENSMUSP00000112521
Gene: ENSMUSG00000001127

DomainStartEndE-ValueType
RBD 19 91 1.46e-28 SMART
C1 99 144 7.68e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122850
SMART Domains Protein: ENSMUSP00000114846
Gene: ENSMUSG00000001127

DomainStartEndE-ValueType
RBD 19 91 1.46e-28 SMART
C1 99 144 7.68e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123219
Predicted Effect probably benign
Transcript: ENSMUST00000128250
SMART Domains Protein: ENSMUSP00000119544
Gene: ENSMUSG00000001127

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 5 109 3.8e-15 PFAM
Pfam:Pkinase 16 109 2.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136451
SMART Domains Protein: ENSMUSP00000115793
Gene: ENSMUSG00000001127

DomainStartEndE-ValueType
RBD 56 128 1.46e-28 SMART
C1 136 181 7.68e-12 SMART
low complexity region 280 305 N/A INTRINSIC
Pfam:Pkinase_Tyr 345 401 2.3e-7 PFAM
Pfam:Pkinase 345 403 7.2e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152955
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This proto-oncogene belongs to the RAF subfamily of the Ser/Thr protein kinase family, and maybe involved in cell growth and development. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous females or hemizygous males for a null targeted mutation show variable genetic background effects, from preweaning death, wasting, tremors, distended colon and small thymus to normal survival and breeding with mild neurological defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 91,056,197 T17K probably benign Het
Agbl1 T C 7: 76,766,372 S714P probably damaging Het
Armc3 G A 2: 19,286,137 probably null Het
Armc8 A T 9: 99,483,174 D638E probably benign Het
Bpifb5 C T 2: 154,225,148 T107I possibly damaging Het
Ces1e A C 8: 93,212,349 probably null Het
Col4a3 C A 1: 82,669,771 probably benign Het
Col4a5 A G X: 141,599,673 probably benign Het
Crocc T C 4: 141,037,920 H477R probably benign Het
Dgkd C A 1: 87,915,141 N130K probably benign Het
Dock1 C T 7: 134,777,445 Q634* probably null Het
Dzip3 C T 16: 48,980,988 V58I probably benign Het
Fndc3a A G 14: 72,556,367 probably benign Het
Glp2r C T 11: 67,721,991 R379H probably damaging Het
Kctd12b T A X: 153,689,334 M120L probably benign Het
Krt33b A G 11: 100,025,363 V258A probably benign Het
Lpin1 T A 12: 16,541,769 N819I probably damaging Het
Lurap1l T C 4: 80,953,629 S120P probably damaging Het
Lysmd4 T C 7: 67,225,924 S112P probably damaging Het
Myo1e A G 9: 70,367,689 K708R probably benign Het
Nr3c1 T A 18: 39,421,557 probably benign Het
Nup62cl G T X: 140,022,031 N239K probably benign Het
Nwd1 A T 8: 72,707,582 E1269V probably damaging Het
Olfr676 C T 7: 105,035,945 T249M probably damaging Het
Pcdh9 A C 14: 93,326,768 L1084R probably damaging Het
Plxnd1 A G 6: 115,978,257 M543T probably benign Het
Prss53 T A 7: 127,888,792 T173S possibly damaging Het
Reep2 C A 18: 34,840,754 probably benign Het
Rp1 T C 1: 4,348,780 D703G probably benign Het
Sbf2 T G 7: 110,560,295 D36A probably damaging Het
Sh3kbp1 C T X: 159,803,728 R99W probably damaging Het
Sis T A 3: 72,956,190 R238S probably benign Het
Slc35e2 T A 4: 155,618,562 V344D probably damaging Het
Specc1 G A 11: 62,128,368 V678I probably benign Het
Supt6 T C 11: 78,232,797 D49G possibly damaging Het
Tecpr1 G A 5: 144,210,003 A515V probably benign Het
Tlr4 G A 4: 66,834,061 probably null Het
Tmco5b A G 2: 113,288,274 E114G probably damaging Het
Tspear A T 10: 77,852,856 probably benign Het
Txlnb T A 10: 17,843,368 V649E probably benign Het
Utp20 A G 10: 88,815,956 probably benign Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Vmn2r70 T A 7: 85,565,003 T314S probably benign Het
Zfp938 G T 10: 82,226,072 T238K possibly damaging Het
Other mutations in Araf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02484:Araf APN X 20853909 splice site probably benign
R1496:Araf UTSW X 20859704 missense probably damaging 1.00
R2228:Araf UTSW X 20851673 missense probably benign 0.30
R3732:Araf UTSW X 20850226 critical splice acceptor site probably benign
R6193:Araf UTSW X 20860100 missense probably damaging 0.98
R6194:Araf UTSW X 20860100 missense probably damaging 0.98
R6195:Araf UTSW X 20860100 missense probably damaging 0.98
R6242:Araf UTSW X 20860100 missense probably damaging 0.98
R6243:Araf UTSW X 20860100 missense probably damaging 0.98
R6244:Araf UTSW X 20860100 missense probably damaging 0.98
R6274:Araf UTSW X 20860100 missense probably damaging 0.98
Posted On2015-04-16