Incidental Mutation 'IGL00769:Fbxo42'
ID10734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo42
Ensembl Gene ENSMUSG00000028920
Gene NameF-box protein 42
Synonyms6720460I06Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.879) question?
Stock #IGL00769
Quality Score
Status
Chromosome4
Chromosomal Location141147913-141204062 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 141180449 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 140 (T140M)
Ref Sequence ENSEMBL: ENSMUSP00000030757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030757]
Predicted Effect probably damaging
Transcript: ENSMUST00000030757
AA Change: T140M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030757
Gene: ENSMUSG00000028920
AA Change: T140M

DomainStartEndE-ValueType
FBOX 50 90 2.64e-4 SMART
Pfam:Kelch_5 114 159 7.3e-9 PFAM
Pfam:Kelch_4 118 174 6.1e-10 PFAM
Pfam:Kelch_3 130 182 4e-11 PFAM
Pfam:Kelch_5 228 268 8.2e-10 PFAM
Pfam:Kelch_1 231 274 6.3e-8 PFAM
Pfam:Kelch_2 231 277 5.1e-10 PFAM
Pfam:Kelch_3 241 285 2.9e-8 PFAM
low complexity region 363 376 N/A INTRINSIC
low complexity region 458 471 N/A INTRINSIC
low complexity region 508 513 N/A INTRINSIC
low complexity region 567 595 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146768
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A G 11: 97,771,581 F155S probably damaging Het
9930111J21Rik1 A G 11: 48,948,212 V516A possibly damaging Het
A730017C20Rik T C 18: 59,072,277 S88P probably damaging Het
Ambp G A 4: 63,144,165 T279I probably damaging Het
Ankrd28 A G 14: 31,743,365 V285A possibly damaging Het
Arfgef3 A G 10: 18,660,604 S220P probably benign Het
Atp9b G T 18: 80,912,853 H129N probably benign Het
Cdh10 C A 15: 18,985,099 P283Q possibly damaging Het
Cep295 A G 9: 15,326,144 S1941P probably damaging Het
Dmbt1 T A 7: 131,082,500 S575R probably damaging Het
Dock11 A G X: 36,004,062 N796S possibly damaging Het
Enam A T 5: 88,501,484 Y284F possibly damaging Het
F8 A T X: 75,334,180 probably benign Het
Galnt13 G A 2: 54,880,104 E303K probably benign Het
Mrgprb4 T A 7: 48,198,901 D93V probably benign Het
Msl3 T A X: 168,668,748 E215V probably damaging Het
Pglyrp3 A T 3: 92,014,622 probably benign Het
Prdx1 G A 4: 116,692,965 D115N probably benign Het
Psd3 A T 8: 67,908,679 probably benign Het
Rundc1 A G 11: 101,434,274 D602G probably damaging Het
Slc4a1ap T G 5: 31,553,777 Y742D probably damaging Het
Ugt1a6a C T 1: 88,139,050 P193S probably damaging Het
Vmn2r96 G A 17: 18,583,819 V252M probably benign Het
Wdr53 G A 16: 32,256,497 W173* probably null Het
Other mutations in Fbxo42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02331:Fbxo42 APN 4 141167846 missense probably benign 0.08
IGL02989:Fbxo42 APN 4 141199534 missense probably damaging 1.00
IGL03047:Fbxo42 UTSW 4 141199542 missense possibly damaging 0.92
R0158:Fbxo42 UTSW 4 141200329 missense probably benign 0.26
R0295:Fbxo42 UTSW 4 141200497 missense probably damaging 1.00
R0671:Fbxo42 UTSW 4 141195239 missense probably damaging 1.00
R1321:Fbxo42 UTSW 4 141167849 missense probably benign 0.01
R1437:Fbxo42 UTSW 4 141167854 missense probably benign 0.00
R1459:Fbxo42 UTSW 4 141167762 missense probably benign
R1585:Fbxo42 UTSW 4 141198106 splice site probably benign
R1635:Fbxo42 UTSW 4 141200529 missense probably damaging 1.00
R2849:Fbxo42 UTSW 4 141200510 missense probably damaging 1.00
R4288:Fbxo42 UTSW 4 141167896 missense probably damaging 1.00
R4431:Fbxo42 UTSW 4 141200550 missense probably damaging 0.99
R4556:Fbxo42 UTSW 4 141199010 missense probably damaging 1.00
R4701:Fbxo42 UTSW 4 141199809 missense probably benign 0.00
R5071:Fbxo42 UTSW 4 141198945 missense probably damaging 1.00
R5072:Fbxo42 UTSW 4 141198945 missense probably damaging 1.00
R5249:Fbxo42 UTSW 4 141199024 missense probably damaging 1.00
R5796:Fbxo42 UTSW 4 141199789 missense probably benign 0.00
R6366:Fbxo42 UTSW 4 141199949 missense probably benign 0.01
R7197:Fbxo42 UTSW 4 141200085 missense probably benign
R7339:Fbxo42 UTSW 4 141200144 missense possibly damaging 0.95
R7468:Fbxo42 UTSW 4 141199606 missense possibly damaging 0.95
R7605:Fbxo42 UTSW 4 141199818 missense probably benign
R7619:Fbxo42 UTSW 4 141200362 missense possibly damaging 0.69
R7780:Fbxo42 UTSW 4 141193820 critical splice donor site probably null
X0063:Fbxo42 UTSW 4 141195281 missense probably benign 0.00
Z1176:Fbxo42 UTSW 4 141180534 critical splice donor site probably null
Posted On2012-12-06