Incidental Mutation 'R7605:Fbxo42'
ID588228
Institutional Source Beutler Lab
Gene Symbol Fbxo42
Ensembl Gene ENSMUSG00000028920
Gene NameF-box protein 42
Synonyms6720460I06Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.306) question?
Stock #R7605 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location141147913-141204062 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 141199818 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 470 (A470T)
Ref Sequence ENSEMBL: ENSMUSP00000030757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030757]
Predicted Effect probably benign
Transcript: ENSMUST00000030757
AA Change: A470T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030757
Gene: ENSMUSG00000028920
AA Change: A470T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,918,164 L610P probably damaging Het
Acta2 G A 19: 34,252,531 T8I probably benign Het
Asphd2 A G 5: 112,391,941 W9R probably damaging Het
Blvrb T A 7: 27,465,793 H179Q probably damaging Het
Capn13 A T 17: 73,345,137 probably null Het
Casp6 A T 3: 129,912,163 M160L probably benign Het
Chordc1 A G 9: 18,304,372 E140G probably benign Het
Col24a1 A T 3: 145,538,687 Y1572F possibly damaging Het
Cul9 A G 17: 46,541,732 S235P probably damaging Het
Cyp2u1 A T 3: 131,297,953 M306K probably damaging Het
Dhx33 A G 11: 70,999,473 L240P probably damaging Het
Dna2 T A 10: 62,960,275 D494E probably benign Het
Dnah7c C T 1: 46,632,310 R1620C probably damaging Het
Dpp8 G A 9: 65,054,958 V427M probably benign Het
Dpt G A 1: 164,796,831 G34S unknown Het
Emb T A 13: 117,264,510 N198K probably damaging Het
Entpd5 T G 12: 84,396,708 H62P probably damaging Het
Ep300 A C 15: 81,621,152 M658L unknown Het
Epb41l4a T A 18: 33,797,451 D651V probably damaging Het
Epha7 C T 4: 28,871,937 S422L probably benign Het
Ephb2 A T 4: 136,771,108 V220E probably damaging Het
Fam187a T A 11: 102,886,048 L226H possibly damaging Het
Fcgrt C T 7: 45,095,251 W264* probably null Het
Flt3 A C 5: 147,349,576 H733Q probably benign Het
Gabrr2 A G 4: 33,082,560 D228G probably damaging Het
Gars T C 6: 55,077,750 S681P probably damaging Het
Gata2 T C 6: 88,200,408 V140A possibly damaging Het
Gm8232 A T 14: 44,434,927 N100I Het
Grik4 A G 9: 42,688,071 C37R probably damaging Het
Grm8 T C 6: 27,618,679 E388G probably damaging Het
Hivep3 CGG CG 4: 120,097,911 probably null Het
Igsf9b C T 9: 27,323,312 T491I probably damaging Het
Impa1 C T 3: 10,324,087 V105I probably damaging Het
Inf2 A G 12: 112,601,337 T134A probably damaging Het
Itgb4 T A 11: 116,006,476 V1521E probably benign Het
Iws1 T A 18: 32,089,487 D623E probably benign Het
Lhfpl5 T C 17: 28,576,331 S111P possibly damaging Het
Lyzl1 T C 18: 4,169,244 C83R probably damaging Het
Madd G A 2: 91,169,710 T617M possibly damaging Het
Magi2 A G 5: 20,228,385 T163A probably damaging Het
Mdn1 C A 4: 32,694,599 H1107Q probably damaging Het
Mfsd14b A T 13: 65,066,777 Y454N probably benign Het
Mrgprb3 T A 7: 48,643,114 I230F probably benign Het
Mroh2b C T 15: 4,945,023 L1162F probably damaging Het
Olfr1019 A G 2: 85,841,039 F251L probably benign Het
Olfr170 T C 16: 19,606,272 Y131C probably damaging Het
Olfr266 G T 3: 106,822,021 H179Q probably damaging Het
Olfr311 A G 11: 58,841,500 I129V probably benign Het
Olfr560 C T 7: 102,753,745 M61I probably benign Het
Olfr631 T C 7: 103,928,868 L15P probably damaging Het
Pclo T C 5: 14,679,036 L2636P unknown Het
Pfkm G A 15: 98,121,310 A181T probably damaging Het
Pik3r1 C T 13: 101,702,838 A169T probably benign Het
R3hdml T A 2: 163,495,768 M114K probably damaging Het
Robo1 C A 16: 73,024,301 R1310S probably benign Het
Scnm1 A T 3: 95,132,875 N115K probably benign Het
Sfn A G 4: 133,601,237 V178A probably damaging Het
Shank2 C T 7: 144,091,779 T366I possibly damaging Het
Siah1a T C 8: 86,725,325 D177G probably damaging Het
Slc37a2 A C 9: 37,237,328 I286S possibly damaging Het
Smarce1 T C 11: 99,228,292 T12A probably benign Het
Spata31d1c T A 13: 65,035,840 S399T probably benign Het
Specc1 A G 11: 62,211,680 S942G possibly damaging Het
Syt13 T C 2: 92,943,133 F164S probably benign Het
Topbp1 A T 9: 103,332,706 T851S probably benign Het
Ttn A T 2: 76,969,671 S398T unknown Het
Vmn1r12 T C 6: 57,159,536 V206A probably damaging Het
Vmn1r224 G A 17: 20,419,959 W266* probably null Het
Vmn2r68 T C 7: 85,233,908 D212G probably benign Het
Vps13b G T 15: 35,770,646 K2078N probably damaging Het
Zfp251 A C 15: 76,854,357 F179V possibly damaging Het
Other mutations in Fbxo42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Fbxo42 APN 4 141180449 missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AAGCGCCCTGTGTTAATGG -3'
(R):5'- CACCATTGGTCTGTTCTGGAGG -3'

Sequencing Primer
(F):5'- TTAATGGCCGCTGGGGAAC -3'
(R):5'- AGGGTGTCTCACACTCCC -3'
Posted On2019-10-24