Incidental Mutation 'R6974:Fbxo38'
ID 542390
Institutional Source Beutler Lab
Gene Symbol Fbxo38
Ensembl Gene ENSMUSG00000042211
Gene Name F-box protein 38
Synonyms SP329, 6030410I24Rik
MMRRC Submission 045084-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6974 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 62637226-62681766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62639740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1041 (N1041K)
Ref Sequence ENSEMBL: ENSMUSP00000047541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048688]
AlphaFold Q8BMI0
Predicted Effect possibly damaging
Transcript: ENSMUST00000048688
AA Change: N1041K

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: N1041K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b T A 12: 70,206,221 (GRCm39) N67K probably benign Het
Amotl1 C A 9: 14,556,216 (GRCm39) E37* probably null Het
Ap4b1 C A 3: 103,720,601 (GRCm39) Y90* probably null Het
Apc A G 18: 34,431,480 (GRCm39) E277G possibly damaging Het
Atl1 T A 12: 69,972,813 (GRCm39) H44Q probably damaging Het
Atp6v0b G A 4: 117,742,864 (GRCm39) T74M probably benign Het
Auts2 T C 5: 131,469,437 (GRCm39) T627A probably benign Het
B4galnt4 T A 7: 140,647,449 (GRCm39) I372N possibly damaging Het
B4galt2 A G 4: 117,731,148 (GRCm39) S338P probably damaging Het
Cfap43 A C 19: 47,773,717 (GRCm39) probably null Het
Col4a1 T C 8: 11,362,538 (GRCm39) probably benign Het
Col7a1 A C 9: 108,798,494 (GRCm39) I1741L possibly damaging Het
Coprs A T 8: 13,935,750 (GRCm39) S90T probably benign Het
Csrnp3 T C 2: 65,779,408 (GRCm39) V40A possibly damaging Het
Ephx1 C A 1: 180,827,287 (GRCm39) probably null Het
Erich6 C A 3: 58,526,220 (GRCm39) R594L probably benign Het
F2rl2 A T 13: 95,837,038 (GRCm39) N28Y probably damaging Het
Fcgr2b C T 1: 170,790,977 (GRCm39) probably null Het
Fsip2 T A 2: 82,809,061 (GRCm39) N1793K probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gcnt3 A G 9: 69,942,169 (GRCm39) I133T probably damaging Het
Gm57859 A G 11: 113,578,818 (GRCm39) D71G probably benign Het
Hoxa1 T A 6: 52,135,021 (GRCm39) I61F probably damaging Het
Impact C T 18: 13,115,169 (GRCm39) L102F probably damaging Het
Ist1 A T 8: 110,404,284 (GRCm39) I196N probably damaging Het
Kcnv2 T A 19: 27,311,282 (GRCm39) S550T probably benign Het
Krt1c A T 15: 101,726,314 (GRCm39) S75T unknown Het
Krtap21-1 A G 16: 89,200,466 (GRCm39) S59P unknown Het
Lef1 A T 3: 130,905,223 (GRCm39) I35F probably damaging Het
Lpcat2 A C 8: 93,599,707 (GRCm39) N225T probably damaging Het
Lztfl1 A T 9: 123,538,649 (GRCm39) N142K probably benign Het
Mdh1b G A 1: 63,760,975 (GRCm39) H88Y probably benign Het
Mettl26 A G 17: 26,095,658 (GRCm39) D171G probably damaging Het
Mrps24 A T 11: 5,654,663 (GRCm39) M97K probably benign Het
Ms4a14 A T 19: 11,279,499 (GRCm39) C1020S probably benign Het
Mterf1a A T 5: 3,940,854 (GRCm39) I338K probably benign Het
Odad2 A T 18: 7,294,479 (GRCm39) Y45N probably benign Het
Or1e22 A G 11: 73,377,299 (GRCm39) I117T probably benign Het
Or4p20 T C 2: 88,254,156 (GRCm39) Y71C possibly damaging Het
Or52s1b T A 7: 102,822,442 (GRCm39) H134L probably damaging Het
Or7g12 T A 9: 18,899,689 (GRCm39) I135N probably damaging Het
Paqr3 T A 5: 97,256,146 (GRCm39) H76L probably damaging Het
Parp1 T A 1: 180,417,071 (GRCm39) Y618* probably null Het
Pilrb2 C T 5: 137,870,049 (GRCm39) probably benign Het
Pkm A G 9: 59,575,853 (GRCm39) N90D probably damaging Het
Pla2g4c T G 7: 13,078,459 (GRCm39) probably null Het
Plppr4 C T 3: 117,116,667 (GRCm39) V339I probably damaging Het
Pnkp T A 7: 44,510,462 (GRCm39) D304E probably damaging Het
Pnlip T C 19: 58,668,067 (GRCm39) probably null Het
Polr2a A G 11: 69,638,026 (GRCm39) C148R probably damaging Het
Ppp1r10 G A 17: 36,240,443 (GRCm39) G578S probably benign Het
Ptges2 C T 2: 32,287,683 (GRCm39) T137I possibly damaging Het
Ptpre T C 7: 135,270,877 (GRCm39) V344A possibly damaging Het
Rag1 A G 2: 101,472,137 (GRCm39) F1002L probably damaging Het
Rcn2 T A 9: 55,960,298 (GRCm39) Y188* probably null Het
Rest A G 5: 77,416,046 (GRCm39) S87G probably damaging Het
Rgsl1 C T 1: 153,675,568 (GRCm39) D913N probably damaging Het
Scp2 A G 4: 107,928,475 (GRCm39) M1T probably null Het
Slamf8 T A 1: 172,415,590 (GRCm39) N83Y probably damaging Het
Slc26a11 T A 11: 119,248,844 (GRCm39) F75Y possibly damaging Het
Slc26a5 A G 5: 22,045,570 (GRCm39) S133P probably damaging Het
Sncb A T 13: 54,910,487 (GRCm39) V83E probably damaging Het
Tmem243 A G 5: 9,151,348 (GRCm39) T11A probably damaging Het
Trim38 A G 13: 23,973,502 (GRCm39) N277D probably benign Het
Vmn1r189 C T 13: 22,286,628 (GRCm39) G70S probably damaging Het
Vmn2r-ps117 A G 17: 19,058,495 (GRCm39) R684G probably benign Het
Wdr59 T C 8: 112,187,420 (GRCm39) N792D possibly damaging Het
Wnt5a A G 14: 28,244,527 (GRCm39) D238G possibly damaging Het
Zbtb42 C A 12: 112,646,824 (GRCm39) T333K probably damaging Het
Zfp119b A G 17: 56,245,564 (GRCm39) S509P probably benign Het
Zfp365 T A 10: 67,745,594 (GRCm39) K61N probably damaging Het
Zfp553 T C 7: 126,835,825 (GRCm39) F460S probably damaging Het
Zfp788 C T 7: 41,299,301 (GRCm39) Q594* probably null Het
Zfp984 T A 4: 147,845,707 (GRCm39) M1L possibly damaging Het
Zmiz2 T A 11: 6,347,566 (GRCm39) Y291* probably null 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
R4456:Fbxo38 UTSW 18 62,659,320 (GRCm39) missense probably damaging 1.00
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
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'- ACGTGAAACATGCATGTAGTG -3'
(R):5'- AGGGTTTTCAAAACAGCAGC -3'

Sequencing Primer
(F):5'- ATACATGCATGCTTTTAAAAGTGTC -3'
(R):5'- AACAGCAGCTTTTCAGGGTC -3'
Posted On 2018-11-28