Incidental Mutation 'R4329:Fbxw22'
ID 324530
Institutional Source Beutler Lab
Gene Symbol Fbxw22
Ensembl Gene ENSMUSG00000070324
Gene Name F-box and WD-40 domain protein 22
Synonyms Gm5164
MMRRC Submission 041663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4329 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 109207468-109233362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109213111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 279 (T279S)
Ref Sequence ENSEMBL: ENSMUSP00000079460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080626] [ENSMUST00000197213]
AlphaFold Q5XG67
Predicted Effect probably damaging
Transcript: ENSMUST00000080626
AA Change: T279S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000079460
Gene: ENSMUSG00000070324
AA Change: T279S

DomainStartEndE-ValueType
FBOX 5 45 1.02e-5 SMART
SCOP:d1gxra_ 128 220 1e-5 SMART
Blast:WD40 137 176 6e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000197213
Meta Mutation Damage Score 0.1689 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 96% (68/71)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C A 5: 113,243,455 (GRCm39) probably null Het
Adamts15 T C 9: 30,815,814 (GRCm39) S681G probably benign Het
Ampd2 C A 3: 107,985,103 (GRCm39) probably benign Het
Ang2 A T 14: 51,433,325 (GRCm39) I19N possibly damaging Het
Brd10 G T 19: 29,720,961 (GRCm39) T688K probably benign Het
Cacna1s A C 1: 136,046,771 (GRCm39) D1819A probably benign Het
Cand2 C A 6: 115,776,949 (GRCm39) H1112Q possibly damaging Het
Catsperd T A 17: 56,961,517 (GRCm39) I413K possibly damaging Het
Ccdc142 T A 6: 83,083,997 (GRCm39) probably benign Het
Cd55 A T 1: 130,380,220 (GRCm39) C253S probably damaging Het
Celsr3 C T 9: 108,723,248 (GRCm39) R2847C probably benign Het
Cep290 C T 10: 100,373,530 (GRCm39) S1270L probably damaging Het
Chka T C 19: 3,925,803 (GRCm39) probably benign Het
Cntnap5b T A 1: 99,999,888 (GRCm39) D215E probably damaging Het
Col13a1 T C 10: 61,699,758 (GRCm39) T476A unknown Het
Cspg4 T C 9: 56,799,749 (GRCm39) F1539L probably damaging Het
Cwf19l2 A T 9: 3,458,878 (GRCm39) I776F probably damaging Het
Dchs1 A T 7: 105,402,966 (GRCm39) I3192N probably damaging Het
Dnah7c T A 1: 46,688,441 (GRCm39) D1870E probably benign Het
Drc1 A T 5: 30,513,002 (GRCm39) I359L probably benign Het
Esp1 A G 17: 41,039,768 (GRCm39) M18V probably benign Het
Exoc1 T A 5: 76,715,822 (GRCm39) F789L probably damaging Het
Frem1 G A 4: 82,904,774 (GRCm39) A880V probably benign Het
Gm29514 A G 1: 146,296,429 (GRCm39) noncoding transcript Het
Grm7 T C 6: 110,891,325 (GRCm39) L186P probably damaging Het
Ipo8 A T 6: 148,701,662 (GRCm39) probably benign Het
Klk4 A G 7: 43,533,830 (GRCm39) D202G probably damaging Het
Marchf6 C T 15: 31,498,887 (GRCm39) E137K probably benign Het
Mpp3 T C 11: 101,914,337 (GRCm39) probably benign Het
Mroh2b T A 15: 4,960,861 (GRCm39) Y808N probably damaging Het
Myom1 C T 17: 71,343,348 (GRCm39) L182F probably damaging Het
Nova1 A T 12: 46,767,615 (GRCm39) I102N unknown Het
Or7g34 T A 9: 19,478,318 (GRCm39) M121L possibly damaging Het
Pak3 T C X: 142,516,205 (GRCm39) probably null Het
Palm G A 10: 79,643,520 (GRCm39) G83S probably benign Het
Patl2 C T 2: 121,958,018 (GRCm39) S80N probably benign Het
Pcdhb9 A T 18: 37,534,875 (GRCm39) S290C probably benign Het
Pcdhb9 G T 18: 37,534,876 (GRCm39) S290I probably benign Het
Pdgfrb A T 18: 61,204,792 (GRCm39) I551F possibly damaging Het
Pkmyt1 T A 17: 23,951,709 (GRCm39) Y88N probably damaging Het
Pnkp T C 7: 44,508,018 (GRCm39) S114P probably benign Het
Rdm1 T A 11: 101,521,734 (GRCm39) V92E probably damaging Het
Sema4d T C 13: 51,857,340 (GRCm39) R631G probably benign Het
Sin3a T C 9: 57,002,642 (GRCm39) L178P probably damaging Het
Skint9 A C 4: 112,249,062 (GRCm39) L122R probably damaging Het
Slc16a13 T C 11: 70,108,723 (GRCm39) N369S probably benign Het
Strada A G 11: 106,077,999 (GRCm39) probably benign Het
Tnxb C A 17: 34,912,838 (GRCm39) S1784Y probably damaging Het
Trpc2 T C 7: 101,736,727 (GRCm39) V318A probably damaging Het
Ttc3 G A 16: 94,267,820 (GRCm39) R1589H probably damaging Het
Ttyh1 A T 7: 4,133,580 (GRCm39) D295V probably damaging Het
Unc5b A G 10: 60,618,969 (GRCm39) Y58H probably damaging Het
Xylt1 G A 7: 117,255,684 (GRCm39) G752D probably damaging Het
Yipf7 A T 5: 69,678,465 (GRCm39) L55Q probably damaging Het
Zfp827 G A 8: 79,916,463 (GRCm39) probably benign Het
Zfta A G 19: 7,398,591 (GRCm39) probably benign Het
Other mutations in Fbxw22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Fbxw22 APN 9 109,213,108 (GRCm39) missense possibly damaging 0.68
IGL00655:Fbxw22 APN 9 109,211,312 (GRCm39) splice site probably benign
IGL01122:Fbxw22 APN 9 109,215,739 (GRCm39) missense probably damaging 0.99
IGL01419:Fbxw22 APN 9 109,210,790 (GRCm39) missense probably benign 0.03
IGL01455:Fbxw22 APN 9 109,214,062 (GRCm39) missense probably benign
IGL01486:Fbxw22 APN 9 109,207,941 (GRCm39) missense probably damaging 1.00
IGL01734:Fbxw22 APN 9 109,212,993 (GRCm39) missense probably damaging 0.98
IGL02106:Fbxw22 APN 9 109,231,087 (GRCm39) missense possibly damaging 0.86
IGL02255:Fbxw22 APN 9 109,215,619 (GRCm39) splice site probably benign
IGL02466:Fbxw22 APN 9 109,214,160 (GRCm39) missense probably damaging 1.00
IGL02820:Fbxw22 APN 9 109,215,732 (GRCm39) missense probably damaging 1.00
R0395:Fbxw22 UTSW 9 109,210,753 (GRCm39) missense probably damaging 1.00
R0705:Fbxw22 UTSW 9 109,232,164 (GRCm39) missense possibly damaging 0.92
R0741:Fbxw22 UTSW 9 109,211,287 (GRCm39) missense probably benign 0.01
R1603:Fbxw22 UTSW 9 109,207,915 (GRCm39) missense probably benign 0.00
R1673:Fbxw22 UTSW 9 109,211,196 (GRCm39) missense possibly damaging 0.93
R1874:Fbxw22 UTSW 9 109,214,179 (GRCm39) nonsense probably null
R2265:Fbxw22 UTSW 9 109,213,062 (GRCm39) missense probably benign 0.02
R2269:Fbxw22 UTSW 9 109,213,062 (GRCm39) missense probably benign 0.02
R2385:Fbxw22 UTSW 9 109,211,210 (GRCm39) missense probably damaging 1.00
R4695:Fbxw22 UTSW 9 109,207,939 (GRCm39) missense probably damaging 1.00
R4731:Fbxw22 UTSW 9 109,207,937 (GRCm39) missense probably benign 0.02
R4915:Fbxw22 UTSW 9 109,213,009 (GRCm39) missense probably damaging 1.00
R5010:Fbxw22 UTSW 9 109,232,492 (GRCm39) missense probably benign 0.40
R5070:Fbxw22 UTSW 9 109,214,183 (GRCm39) missense probably benign
R5319:Fbxw22 UTSW 9 109,213,015 (GRCm39) missense possibly damaging 0.52
R5571:Fbxw22 UTSW 9 109,232,156 (GRCm39) missense probably damaging 1.00
R5765:Fbxw22 UTSW 9 109,214,064 (GRCm39) missense probably benign 0.00
R5846:Fbxw22 UTSW 9 109,215,829 (GRCm39) missense probably benign
R6002:Fbxw22 UTSW 9 109,210,750 (GRCm39) nonsense probably null
R6180:Fbxw22 UTSW 9 109,215,747 (GRCm39) missense probably damaging 1.00
R6313:Fbxw22 UTSW 9 109,232,465 (GRCm39) missense probably damaging 0.99
R6860:Fbxw22 UTSW 9 109,213,030 (GRCm39) missense probably benign 0.01
R6949:Fbxw22 UTSW 9 109,211,144 (GRCm39) missense probably benign 0.06
R7084:Fbxw22 UTSW 9 109,233,291 (GRCm39) missense probably damaging 1.00
R7296:Fbxw22 UTSW 9 109,211,143 (GRCm39) missense probably benign
R8499:Fbxw22 UTSW 9 109,214,068 (GRCm39) missense probably benign 0.00
R9088:Fbxw22 UTSW 9 109,207,952 (GRCm39) missense probably damaging 1.00
R9301:Fbxw22 UTSW 9 109,215,653 (GRCm39) missense possibly damaging 0.60
R9501:Fbxw22 UTSW 9 109,207,920 (GRCm39) missense probably benign 0.01
R9600:Fbxw22 UTSW 9 109,212,986 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCAGTTTTCCTGACTCAGAATC -3'
(R):5'- TCCTGGGTGAAGAACAGATGC -3'

Sequencing Primer
(F):5'- TTGGGACATATGACATCATGTCTG -3'
(R):5'- GTGAAGAACAGATGCAACCACTCTTG -3'
Posted On 2015-06-24