Incidental Mutation 'R4456:Fbxo38'
ID 329210
Institutional Source Beutler Lab
Gene Symbol Fbxo38
Ensembl Gene ENSMUSG00000042211
Gene Name F-box protein 38
Synonyms SP329, 6030410I24Rik
MMRRC Submission 041716-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4456 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 62637226-62681766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 62659320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 326 (R326S)
Ref Sequence ENSEMBL: ENSMUSP00000047541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048688]
AlphaFold Q8BMI0
Predicted Effect probably damaging
Transcript: ENSMUST00000048688
AA Change: R326S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: R326S

DomainStartEndE-ValueType
Pfam:F-box 29 66 2.6e-5 PFAM
SCOP:d1fqva2 127 357 6e-4 SMART
low complexity region 493 525 N/A INTRINSIC
low complexity region 598 610 N/A INTRINSIC
low complexity region 705 728 N/A INTRINSIC
low complexity region 736 753 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 93% (42/45)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,833,071 (GRCm39) F1210L probably benign Het
Amfr C T 8: 94,711,568 (GRCm39) A323T possibly damaging Het
Apob T A 12: 8,065,445 (GRCm39) I4105N probably damaging Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Cdc42ep1 A G 15: 78,734,091 (GRCm39) E397G possibly damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Dnmt1 T C 9: 20,821,138 (GRCm39) T1250A probably damaging Het
Dst A T 1: 34,229,800 (GRCm39) K2642N probably benign Het
Emcn A T 3: 137,085,608 (GRCm39) K69* probably null Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fcer1g A G 1: 171,061,808 (GRCm39) S3P probably benign Het
Glp1r G T 17: 31,137,949 (GRCm39) E127* probably null Het
Gnmt G T 17: 47,039,910 (GRCm39) H56Q probably benign Het
Hectd4 C T 5: 121,446,334 (GRCm39) T1513I possibly damaging Het
Hsd3b1 G A 3: 98,763,459 (GRCm39) T48I probably benign Het
Kmt2c A T 5: 25,515,210 (GRCm39) C2878S probably benign Het
Loxhd1 A G 18: 77,486,785 (GRCm39) Y1290C probably damaging Het
Mkln1 A G 6: 31,403,707 (GRCm39) Y76C probably damaging Het
Mri1 C A 8: 84,983,035 (GRCm39) A129S probably benign Het
Mroh2b A T 15: 4,977,407 (GRCm39) H1253L probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mthfsd C T 8: 121,832,504 (GRCm39) V63I possibly damaging Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Nbea A G 3: 55,551,205 (GRCm39) V2653A probably benign Het
Nckap5 A T 1: 125,842,472 (GRCm39) probably benign Het
Notch4 G A 17: 34,802,807 (GRCm39) V1378M probably damaging Het
Or51a42 A G 7: 103,708,507 (GRCm39) S101P possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rasl12 A G 9: 65,305,866 (GRCm39) K7R probably null Het
Rnf4 A G 5: 34,508,705 (GRCm39) Y189C probably benign Het
Shroom3 A G 5: 93,088,858 (GRCm39) H536R probably benign Het
Slc2a4 G A 11: 69,834,148 (GRCm39) probably benign Het
Tbc1d5 A C 17: 51,089,369 (GRCm39) S604A probably damaging Het
Tcp11l1 A T 2: 104,514,567 (GRCm39) V400E probably damaging Het
Tom1l2 G T 11: 60,243,641 (GRCm39) probably benign Het
Ttc28 AC A 5: 111,371,924 (GRCm39) probably null Het
Txndc15 A G 13: 55,865,977 (GRCm39) D147G possibly damaging Het
Other mutations in Fbxo38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Fbxo38 APN 18 62,663,871 (GRCm39) missense possibly damaging 0.59
IGL01384:Fbxo38 APN 18 62,655,487 (GRCm39) missense probably damaging 0.98
IGL01443:Fbxo38 APN 18 62,666,741 (GRCm39) missense probably damaging 1.00
IGL01515:Fbxo38 APN 18 62,651,642 (GRCm39) missense probably benign 0.00
IGL01621:Fbxo38 APN 18 62,655,595 (GRCm39) splice site probably benign
IGL01975:Fbxo38 APN 18 62,648,484 (GRCm39) missense probably damaging 1.00
IGL02148:Fbxo38 APN 18 62,669,298 (GRCm39) missense probably benign 0.02
IGL02390:Fbxo38 APN 18 62,666,660 (GRCm39) missense probably damaging 1.00
IGL03040:Fbxo38 APN 18 62,660,323 (GRCm39) missense probably damaging 1.00
IGL03088:Fbxo38 APN 18 62,655,543 (GRCm39) missense possibly damaging 0.86
IGL03290:Fbxo38 APN 18 62,659,234 (GRCm39) missense probably benign 0.08
FR4976:Fbxo38 UTSW 18 62,648,418 (GRCm39) small deletion probably benign
R0526:Fbxo38 UTSW 18 62,639,051 (GRCm39) missense probably damaging 1.00
R0529:Fbxo38 UTSW 18 62,639,057 (GRCm39) missense probably damaging 1.00
R0789:Fbxo38 UTSW 18 62,648,570 (GRCm39) missense possibly damaging 0.84
R1232:Fbxo38 UTSW 18 62,643,882 (GRCm39) missense probably damaging 1.00
R1857:Fbxo38 UTSW 18 62,648,489 (GRCm39) missense probably damaging 1.00
R1859:Fbxo38 UTSW 18 62,648,489 (GRCm39) missense probably damaging 1.00
R1872:Fbxo38 UTSW 18 62,650,094 (GRCm39) missense probably benign 0.01
R2114:Fbxo38 UTSW 18 62,639,711 (GRCm39) missense possibly damaging 0.71
R2910:Fbxo38 UTSW 18 62,652,878 (GRCm39) missense probably benign 0.01
R2911:Fbxo38 UTSW 18 62,652,878 (GRCm39) missense probably benign 0.01
R3406:Fbxo38 UTSW 18 62,647,914 (GRCm39) missense probably damaging 0.99
R3731:Fbxo38 UTSW 18 62,648,399 (GRCm39) small deletion probably benign
R3792:Fbxo38 UTSW 18 62,666,533 (GRCm39) splice site probably null
R3848:Fbxo38 UTSW 18 62,648,144 (GRCm39) missense possibly damaging 0.87
R3948:Fbxo38 UTSW 18 62,662,615 (GRCm39) splice site probably benign
R4151:Fbxo38 UTSW 18 62,648,399 (GRCm39) small deletion probably benign
R4323:Fbxo38 UTSW 18 62,648,232 (GRCm39) missense probably benign
R4786:Fbxo38 UTSW 18 62,662,745 (GRCm39) missense probably damaging 1.00
R4829:Fbxo38 UTSW 18 62,651,662 (GRCm39) missense probably benign
R4959:Fbxo38 UTSW 18 62,655,578 (GRCm39) missense probably benign 0.45
R5274:Fbxo38 UTSW 18 62,648,140 (GRCm39) missense probably damaging 0.98
R5288:Fbxo38 UTSW 18 62,674,042 (GRCm39) missense probably benign
R5384:Fbxo38 UTSW 18 62,674,042 (GRCm39) missense probably benign
R5385:Fbxo38 UTSW 18 62,674,042 (GRCm39) missense probably benign
R5448:Fbxo38 UTSW 18 62,655,528 (GRCm39) missense possibly damaging 0.59
R5540:Fbxo38 UTSW 18 62,647,864 (GRCm39) critical splice donor site probably null
R5588:Fbxo38 UTSW 18 62,659,248 (GRCm39) missense probably damaging 1.00
R5617:Fbxo38 UTSW 18 62,639,042 (GRCm39) missense probably damaging 1.00
R5636:Fbxo38 UTSW 18 62,644,089 (GRCm39) missense possibly damaging 0.80
R5769:Fbxo38 UTSW 18 62,648,036 (GRCm39) missense probably benign 0.10
R6254:Fbxo38 UTSW 18 62,638,571 (GRCm39) splice site probably null
R6315:Fbxo38 UTSW 18 62,669,218 (GRCm39) nonsense probably null
R6517:Fbxo38 UTSW 18 62,666,634 (GRCm39) missense probably damaging 1.00
R6673:Fbxo38 UTSW 18 62,666,986 (GRCm39) missense probably damaging 1.00
R6974:Fbxo38 UTSW 18 62,639,740 (GRCm39) missense possibly damaging 0.95
R7022:Fbxo38 UTSW 18 62,669,295 (GRCm39) missense probably damaging 1.00
R7175:Fbxo38 UTSW 18 62,648,544 (GRCm39) missense probably benign 0.11
R8013:Fbxo38 UTSW 18 62,663,882 (GRCm39) missense possibly damaging 0.63
R8815:Fbxo38 UTSW 18 62,666,587 (GRCm39) missense probably damaging 1.00
R8885:Fbxo38 UTSW 18 62,659,272 (GRCm39) missense probably damaging 0.99
R9240:Fbxo38 UTSW 18 62,651,632 (GRCm39) nonsense probably null
R9427:Fbxo38 UTSW 18 62,644,160 (GRCm39) missense probably benign 0.00
R9750:Fbxo38 UTSW 18 62,674,061 (GRCm39) missense probably benign 0.14
R9796:Fbxo38 UTSW 18 62,674,055 (GRCm39) missense possibly damaging 0.92
Z1177:Fbxo38 UTSW 18 62,648,535 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCAACGTTTTCCACAGCC -3'
(R):5'- AGCTAAGTGTACTGCCTAGTGTG -3'

Sequencing Primer
(F):5'- CCCATCCAGGTAGTAAAGCATGATG -3'
(R):5'- GCTGCACTTGAAAAGAGAAATCTC -3'
Posted On 2015-07-21