Incidental Mutation 'IGL03040:Fbxo38'
ID408856
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo38
Ensembl Gene ENSMUSG00000042211
Gene NameF-box protein 38
Synonyms6030410I24Rik, SP329
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03040
Quality Score
Status
Chromosome18
Chromosomal Location62504069-62548743 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62527252 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 296 (H296R)
Ref Sequence ENSEMBL: ENSMUSP00000047541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048688]
Predicted Effect probably damaging
Transcript: ENSMUST00000048688
AA Change: H296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: H296R

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930539E08Rik A G 17: 28,915,202 M11T probably benign Het
Abcc9 C A 6: 142,652,597 G672* probably null Het
Adamts19 T A 18: 58,903,008 S422T probably benign Het
Anapc7 T A 5: 122,433,387 L175* probably null Het
Atp13a2 T C 4: 141,006,173 L986P probably damaging Het
Atp6v1d C A 12: 78,857,348 probably benign Het
Cldn5 A G 16: 18,777,630 Y212C probably damaging Het
Dgki C A 6: 37,149,664 probably benign Het
Evi5 A G 5: 107,821,806 S80P probably damaging Het
Extl1 A T 4: 134,360,629 probably benign Het
Fras1 A G 5: 96,710,101 I2085V probably benign Het
Gm8773 C A 5: 5,575,566 Y87* probably null Het
Gpd2 A T 2: 57,355,793 E445V probably benign Het
Grm8 C T 6: 28,126,123 M1I probably null Het
Hnf4g T A 3: 3,634,211 probably benign Het
Hspg2 G A 4: 137,561,825 probably null Het
Kmt2c T C 5: 25,310,352 Q2831R probably benign Het
Nat10 C A 2: 103,757,265 probably benign Het
Pbx1 C A 1: 168,427,946 probably benign Het
Prkg2 C T 5: 98,973,107 probably null Het
Scn10a T A 9: 119,622,985 I1291F probably damaging Het
Sh3tc2 G A 18: 61,989,410 G414D probably benign Het
Syn2 C T 6: 115,263,965 T432I possibly damaging Het
Tnpo1 T C 13: 98,859,955 E446G probably damaging Het
Topbp1 C T 9: 103,328,667 L835F possibly damaging Het
Ubald1 G T 16: 4,875,762 S96R possibly damaging Het
Utp6 C A 11: 79,936,113 probably benign Het
Vmn1r19 C A 6: 57,405,362 P300Q unknown Het
Vmn1r220 T C 13: 23,183,782 D248G possibly damaging Het
Zglp1 T A 9: 21,063,326 S189C probably damaging Het
Other mutations in Fbxo38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Fbxo38 APN 18 62530800 missense possibly damaging 0.59
IGL01384:Fbxo38 APN 18 62522416 missense probably damaging 0.98
IGL01443:Fbxo38 APN 18 62533670 missense probably damaging 1.00
IGL01515:Fbxo38 APN 18 62518571 missense probably benign 0.00
IGL01621:Fbxo38 APN 18 62522524 splice site probably benign
IGL01975:Fbxo38 APN 18 62515413 missense probably damaging 1.00
IGL02148:Fbxo38 APN 18 62536227 missense probably benign 0.02
IGL02390:Fbxo38 APN 18 62533589 missense probably damaging 1.00
IGL03088:Fbxo38 APN 18 62522472 missense possibly damaging 0.86
IGL03290:Fbxo38 APN 18 62526163 missense probably benign 0.08
FR4976:Fbxo38 UTSW 18 62515347 small deletion probably benign
R0526:Fbxo38 UTSW 18 62505980 missense probably damaging 1.00
R0529:Fbxo38 UTSW 18 62505986 missense probably damaging 1.00
R0789:Fbxo38 UTSW 18 62515499 missense possibly damaging 0.84
R1232:Fbxo38 UTSW 18 62510811 missense probably damaging 1.00
R1857:Fbxo38 UTSW 18 62515418 missense probably damaging 1.00
R1859:Fbxo38 UTSW 18 62515418 missense probably damaging 1.00
R1872:Fbxo38 UTSW 18 62517023 missense probably benign 0.01
R2114:Fbxo38 UTSW 18 62506640 missense possibly damaging 0.71
R2910:Fbxo38 UTSW 18 62519807 missense probably benign 0.01
R2911:Fbxo38 UTSW 18 62519807 missense probably benign 0.01
R3406:Fbxo38 UTSW 18 62514843 missense probably damaging 0.99
R3731:Fbxo38 UTSW 18 62515328 small deletion probably benign
R3792:Fbxo38 UTSW 18 62533462 intron probably null
R3848:Fbxo38 UTSW 18 62515073 missense possibly damaging 0.87
R3948:Fbxo38 UTSW 18 62529544 splice site probably benign
R4151:Fbxo38 UTSW 18 62515328 small deletion probably benign
R4323:Fbxo38 UTSW 18 62515161 missense probably benign
R4456:Fbxo38 UTSW 18 62526249 missense probably damaging 1.00
R4786:Fbxo38 UTSW 18 62529674 missense probably damaging 1.00
R4829:Fbxo38 UTSW 18 62518591 missense probably benign
R4959:Fbxo38 UTSW 18 62522507 missense probably benign 0.45
R5274:Fbxo38 UTSW 18 62515069 missense probably damaging 0.98
R5288:Fbxo38 UTSW 18 62540971 missense probably benign
R5384:Fbxo38 UTSW 18 62540971 missense probably benign
R5385:Fbxo38 UTSW 18 62540971 missense probably benign
R5448:Fbxo38 UTSW 18 62522457 missense possibly damaging 0.59
R5540:Fbxo38 UTSW 18 62514793 critical splice donor site probably null
R5588:Fbxo38 UTSW 18 62526177 missense probably damaging 1.00
R5617:Fbxo38 UTSW 18 62505971 missense probably damaging 1.00
R5636:Fbxo38 UTSW 18 62511018 missense possibly damaging 0.80
R5769:Fbxo38 UTSW 18 62514965 missense probably benign 0.10
R6254:Fbxo38 UTSW 18 62505500 synonymous probably null
R6315:Fbxo38 UTSW 18 62536147 nonsense probably null
R6517:Fbxo38 UTSW 18 62533563 missense probably damaging 1.00
R6673:Fbxo38 UTSW 18 62533915 missense probably damaging 1.00
R6974:Fbxo38 UTSW 18 62506669 missense possibly damaging 0.95
R7022:Fbxo38 UTSW 18 62536224 missense probably damaging 1.00
R7175:Fbxo38 UTSW 18 62515473 missense probably benign 0.11
Posted On2016-08-02