Incidental Mutation 'IGL02484:Araf'
ID 295380
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Araf
Ensembl Gene ENSMUSG00000001127
Gene Name Araf proto-oncogene, serine/threonine kinase
Synonyms 1200013E08Rik, Araf1, A-Raf
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.372) question?
Stock # IGL02484
Quality Score
Status
Chromosome X
Chromosomal Location 20664053-20726758 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 20720148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001155] [ENSMUST00000120356] [ENSMUST00000122312] [ENSMUST00000122850] [ENSMUST00000136451]
AlphaFold P04627
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: ENSMUST00000152955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150190
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A C 7: 29,262,777 (GRCm39) noncoding transcript Het
Arrb2 T A 11: 70,330,300 (GRCm39) V308E probably damaging Het
Asap3 A G 4: 135,956,768 (GRCm39) probably benign Het
Astn2 G A 4: 65,910,516 (GRCm39) probably benign Het
Cactin T A 10: 81,158,808 (GRCm39) I258N probably benign Het
Calhm6 T C 10: 34,002,400 (GRCm39) T228A probably benign Het
Catsperg1 T C 7: 28,910,345 (GRCm39) probably benign Het
Ccna1 C T 3: 54,955,915 (GRCm39) D146N probably benign Het
Chrna3 T C 9: 54,922,821 (GRCm39) Y329C probably damaging Het
Ctps2 G A X: 161,693,005 (GRCm39) G56D probably damaging Het
Cyp4b1 T C 4: 115,504,754 (GRCm39) D44G probably benign Het
D3Ertd751e A G 3: 41,708,155 (GRCm39) probably null Het
Daxx T C 17: 34,131,216 (GRCm39) V381A probably damaging Het
Dhx37 T A 5: 125,496,401 (GRCm39) I714F possibly damaging Het
Dnah7b T C 1: 46,234,478 (GRCm39) V1470A probably damaging Het
Efl1 T C 7: 82,332,247 (GRCm39) I297T probably damaging Het
Fnd3c2 A T X: 105,289,092 (GRCm39) H442Q probably damaging Het
Glp2r A C 11: 67,630,992 (GRCm39) V126G possibly damaging Het
Gm5699 G T 1: 31,037,843 (GRCm39) noncoding transcript Het
Gpt2 A G 8: 86,242,862 (GRCm39) D298G probably damaging Het
Gse1 G T 8: 121,302,001 (GRCm39) probably benign Het
Hand1 T C 11: 57,722,420 (GRCm39) T65A probably benign Het
Ints8 G A 4: 11,208,834 (GRCm39) Q955* probably null Het
Lrguk C T 6: 34,069,726 (GRCm39) P534S probably damaging Het
Lrp6 A G 6: 134,518,886 (GRCm39) F60L probably benign Het
Mamld1 T C X: 70,162,258 (GRCm39) I423T possibly damaging Het
Mrpl22 G A 11: 58,063,888 (GRCm39) S36N possibly damaging Het
Mug2 A G 6: 122,049,712 (GRCm39) E915G probably damaging Het
Oosp2 T C 19: 11,628,847 (GRCm39) T85A probably benign Het
Or5b94 T C 19: 12,652,223 (GRCm39) F218S possibly damaging Het
Or5p68 C T 7: 107,945,813 (GRCm39) R125Q probably damaging Het
Pde4c T A 8: 71,200,701 (GRCm39) probably benign Het
Pdxdc1 T C 16: 13,693,945 (GRCm39) E159G possibly damaging Het
Poln T C 5: 34,286,721 (GRCm39) E149G probably damaging Het
Pou5f2 T G 13: 78,174,024 (GRCm39) L322R probably damaging Het
Ppm1k A T 6: 57,501,997 (GRCm39) S55R possibly damaging Het
Ptges2 T A 2: 32,287,719 (GRCm39) I149N probably damaging Het
Pus7l A G 15: 94,427,369 (GRCm39) V471A possibly damaging Het
Raet1e A T 10: 22,056,666 (GRCm39) M81L probably benign Het
Sipa1l3 A G 7: 29,098,956 (GRCm39) S438P probably damaging Het
Skint5 T A 4: 113,799,750 (GRCm39) K126* probably null Het
Stfa2 T C 16: 36,225,569 (GRCm39) T37A probably damaging Het
Ttll12 A G 15: 83,465,897 (GRCm39) I433T possibly damaging Het
Vmn2r32 C T 7: 7,467,116 (GRCm39) G804D probably damaging Het
Zc3h14 A G 12: 98,740,560 (GRCm39) T84A probably benign Het
Other mutations in Araf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02244:Araf APN X 20,719,835 (GRCm39) splice site probably benign
R1496:Araf UTSW X 20,725,943 (GRCm39) missense probably damaging 1.00
R2228:Araf UTSW X 20,717,912 (GRCm39) missense probably benign 0.30
R3732:Araf UTSW X 20,716,465 (GRCm39) critical splice acceptor site probably benign
R6193:Araf UTSW X 20,726,339 (GRCm39) missense probably damaging 0.98
R6194:Araf UTSW X 20,726,339 (GRCm39) missense probably damaging 0.98
R6195:Araf UTSW X 20,726,339 (GRCm39) missense probably damaging 0.98
R6242:Araf UTSW X 20,726,339 (GRCm39) missense probably damaging 0.98
R6243:Araf UTSW X 20,726,339 (GRCm39) missense probably damaging 0.98
R6244:Araf UTSW X 20,726,339 (GRCm39) missense probably damaging 0.98
R6274:Araf UTSW X 20,726,339 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16