Incidental Mutation 'IGL01384:Fbxo38'
ID78968
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 #IGL01384
Quality Score
Status
Chromosome18
Chromosomal Location62504069-62548743 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 62522416 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 400 (S400P)
Ref Sequence ENSEMBL: ENSMUSP00000047541 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048688]
Predicted Effect probably damaging
Transcript: ENSMUST00000048688
AA Change: S400P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047541
Gene: ENSMUSG00000042211
AA Change: S400P

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik C T 13: 63,190,476 probably benign Het
4932414N04Rik A G 2: 68,745,405 R683G possibly damaging Het
Abca9 A G 11: 110,145,637 S549P probably damaging Het
Adgrd1 T C 5: 129,097,209 S17P possibly damaging Het
AI464131 G T 4: 41,498,151 A493E probably damaging Het
Ankrd36 C A 11: 5,628,348 H546N probably benign Het
Bivm T G 1: 44,126,747 I119S possibly damaging Het
Ccdc88a G T 11: 29,503,915 D1693Y probably damaging Het
Clcn6 G A 4: 148,018,966 R242C probably damaging Het
Clec4a2 A C 6: 123,127,988 K79T probably damaging Het
Cspp1 G A 1: 10,116,680 R129H probably damaging Het
Cyp2c40 A T 19: 39,812,583 M47K probably benign Het
Dmxl1 A G 18: 49,857,334 D280G probably benign Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Gen1 T C 12: 11,255,241 I184M probably benign Het
Gm9949 A T 18: 62,184,018 probably benign Het
Grtp1 A T 8: 13,179,629 V253E probably damaging Het
Lamb1 T A 12: 31,320,931 M1327K probably benign Het
Lrp2 T C 2: 69,453,812 D3874G probably null Het
Lrp2 T A 2: 69,483,502 D2295V probably damaging Het
Mrvi1 A G 7: 110,926,501 V148A possibly damaging Het
Muc5b A T 7: 141,846,818 I509F unknown Het
Mug1 A C 6: 121,849,474 probably benign Het
Myh7 A T 14: 54,971,459 L1903Q probably damaging Het
Mylk G T 16: 34,938,952 A1229S probably benign Het
Ncam1 A T 9: 49,509,852 I721N possibly damaging Het
Olfr888 T A 9: 38,109,562 I287N probably damaging Het
Pla2g2c A G 4: 138,743,701 K131R probably benign Het
Rpgrip1l A T 8: 91,273,640 I557N probably benign Het
Sirpb1b T A 3: 15,548,729 N98Y probably damaging Het
Stab1 A G 14: 31,150,408 V1182A probably benign Het
Tagap1 T C 17: 6,956,883 D138G probably benign Het
Tiam2 T A 17: 3,427,202 F567I probably benign Het
Ush2a A T 1: 188,553,228 D1987V possibly damaging Het
Vmn1r36 A T 6: 66,716,462 I37N probably damaging Het
Wif1 A T 10: 121,084,950 T226S possibly damaging Het
Zfp428 A G 7: 24,510,742 D22G possibly damaging Het
Zfp521 A T 18: 13,843,923 N1144K probably benign Het
Other mutations in Fbxo38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Fbxo38 APN 18 62530800 missense possibly damaging 0.59
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
IGL03040:Fbxo38 APN 18 62527252 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
R8013:Fbxo38 UTSW 18 62530811 missense possibly damaging 0.63
Z1177:Fbxo38 UTSW 18 62515464 missense probably damaging 1.00
Posted On2013-11-05