Incidental Mutation 'R0374:Bbx'
ID 38539
Institutional Source Beutler Lab
Gene Symbol Bbx
Ensembl Gene ENSMUSG00000022641
Gene Name bobby sox HMG box containing
Synonyms 5730403O13Rik, 5530401J07Rik
MMRRC Submission 038580-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0374 (G1)
Quality Score 214
Status Validated
Chromosome 16
Chromosomal Location 50012207-50252753 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50100755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 47 (E47K)
Ref Sequence ENSEMBL: ENSMUSP00000119238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066037] [ENSMUST00000089399] [ENSMUST00000089404] [ENSMUST00000114477] [ENSMUST00000114488] [ENSMUST00000138166]
AlphaFold Q8VBW5
Predicted Effect probably benign
Transcript: ENSMUST00000066037
AA Change: E47K

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: E47K

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
Pfam:DUF2028 109 150 3.1e-22 PFAM
Pfam:DUF2028 140 214 4.4e-26 PFAM
low complexity region 216 230 N/A INTRINSIC
low complexity region 336 348 N/A INTRINSIC
low complexity region 415 432 N/A INTRINSIC
low complexity region 528 539 N/A INTRINSIC
low complexity region 561 566 N/A INTRINSIC
low complexity region 780 795 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089399
AA Change: E47K

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000086821
Gene: ENSMUSG00000022641
AA Change: E47K

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
HMG 79 149 2.76e-15 SMART
Pfam:DUF2028 190 322 2.8e-64 PFAM
low complexity region 324 338 N/A INTRINSIC
low complexity region 444 456 N/A INTRINSIC
low complexity region 523 540 N/A INTRINSIC
low complexity region 636 647 N/A INTRINSIC
low complexity region 669 674 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089404
AA Change: E47K

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: E47K

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
HMG 79 149 2.76e-15 SMART
Pfam:DUF2028 190 322 3.7e-64 PFAM
low complexity region 324 338 N/A INTRINSIC
low complexity region 444 456 N/A INTRINSIC
low complexity region 523 540 N/A INTRINSIC
low complexity region 636 647 N/A INTRINSIC
low complexity region 669 674 N/A INTRINSIC
low complexity region 838 853 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114477
SMART Domains Protein: ENSMUSP00000110121
Gene: ENSMUSG00000022641

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
HMG 79 149 2.76e-15 SMART
Pfam:DUF2028 190 322 6.8e-64 PFAM
low complexity region 324 338 N/A INTRINSIC
low complexity region 444 456 N/A INTRINSIC
low complexity region 523 540 N/A INTRINSIC
low complexity region 636 647 N/A INTRINSIC
low complexity region 669 674 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114488
AA Change: E47K

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: E47K

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
HMG 79 149 2.76e-15 SMART
Pfam:DUF2028 190 322 3.8e-64 PFAM
low complexity region 324 338 N/A INTRINSIC
low complexity region 444 456 N/A INTRINSIC
low complexity region 523 540 N/A INTRINSIC
low complexity region 636 647 N/A INTRINSIC
low complexity region 669 674 N/A INTRINSIC
low complexity region 723 734 N/A INTRINSIC
low complexity region 858 873 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131695
Predicted Effect probably benign
Transcript: ENSMUST00000138166
AA Change: E47K

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: E47K

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
HMG 79 149 2.76e-15 SMART
Pfam:DUF2028 190 335 9.2e-54 PFAM
low complexity region 444 456 N/A INTRINSIC
low complexity region 523 540 N/A INTRINSIC
low complexity region 636 647 N/A INTRINSIC
low complexity region 669 674 N/A INTRINSIC
low complexity region 723 734 N/A INTRINSIC
low complexity region 858 873 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 99% (69/70)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele show increased IgA level, abnormal tooth morphology, and a reduction in heart weight, lean body mass, body length, long bone length, bone mineral density, and bone strength. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano9 A G 7: 140,687,727 (GRCm39) I267T probably damaging Het
Anxa6 T A 11: 54,896,654 (GRCm39) N168I probably benign Het
Apbb1ip A G 2: 22,709,717 (GRCm39) probably benign Het
Aqr G A 2: 113,961,092 (GRCm39) H723Y probably damaging Het
Car13 A G 3: 14,721,357 (GRCm39) probably benign Het
Casp9 T A 4: 141,534,484 (GRCm39) I298N possibly damaging Het
Ccdc66 T C 14: 27,220,430 (GRCm39) E261G probably damaging Het
Cep192 T A 18: 67,951,954 (GRCm39) Y376* probably null Het
Cped1 T A 6: 22,222,545 (GRCm39) probably benign Het
Ctbp2 A T 7: 132,601,073 (GRCm39) S563R possibly damaging Het
Ctdp1 A G 18: 80,490,637 (GRCm39) probably null Het
Dgka G C 10: 128,556,952 (GRCm39) probably benign Het
Drd2 A G 9: 49,311,084 (GRCm39) T112A probably benign Het
Dusp1 A G 17: 26,727,143 (GRCm39) V52A probably damaging Het
Eea1 T A 10: 95,875,634 (GRCm39) probably benign Het
Etfrf1 T C 6: 145,161,288 (GRCm39) V86A probably benign Het
Fbn1 A T 2: 125,163,596 (GRCm39) C2087S possibly damaging Het
Fosb T G 7: 19,041,075 (GRCm39) R139S probably damaging Het
Foxm1 C T 6: 128,349,566 (GRCm39) R362W probably damaging Het
Frem2 A G 3: 53,561,381 (GRCm39) V1042A probably damaging Het
Gbe1 A G 16: 70,280,802 (GRCm39) H401R probably benign Het
Gm10549 C T 18: 33,597,235 (GRCm39) probably benign Het
Golga7b A T 19: 42,251,758 (GRCm39) probably benign Het
H2-DMb1 T C 17: 34,378,399 (GRCm39) V235A probably benign Het
Hr A G 14: 70,793,916 (GRCm39) T59A probably benign Het
Itpr2 C A 6: 146,260,890 (GRCm39) A588S probably benign Het
Kmt2c G A 5: 25,514,706 (GRCm39) P3046S probably damaging Het
Lamc1 G A 1: 153,126,811 (GRCm39) probably benign Het
Lrp2 A G 2: 69,260,651 (GRCm39) Y4527H probably damaging Het
Map3k2 G A 18: 32,345,226 (GRCm39) probably null Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Nfs1 C G 2: 155,974,580 (GRCm39) G212R probably damaging Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Nrap T A 19: 56,340,054 (GRCm39) Y740F probably damaging Het
Nup205 T A 6: 35,185,772 (GRCm39) M859K probably damaging Het
Nxf1 T C 19: 8,745,103 (GRCm39) F451S possibly damaging Het
Or5an1c A T 19: 12,218,505 (GRCm39) N173K probably damaging Het
Or6c6c G A 10: 129,541,516 (GRCm39) M256I probably benign Het
Pcdhac2 T C 18: 37,278,720 (GRCm39) Y567H probably damaging Het
Phlpp2 C T 8: 110,634,145 (GRCm39) R242W probably damaging Het
Pi4ka A G 16: 17,100,796 (GRCm39) probably benign Het
Pmpcb A G 5: 21,953,829 (GRCm39) D359G probably damaging Het
Poll T G 19: 45,546,309 (GRCm39) S244R probably benign Het
Prkd3 T C 17: 79,264,644 (GRCm39) D657G probably null Het
Prune2 G A 19: 17,098,274 (GRCm39) M1259I probably benign Het
Ptpra T A 2: 130,379,541 (GRCm39) M329K probably damaging Het
Rbm10 GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG X: 20,503,798 (GRCm39) probably benign Het
Rbm15 G T 3: 107,237,880 (GRCm39) D839E probably damaging Het
Sap30bp T A 11: 115,855,103 (GRCm39) I271N probably damaging Het
Scart2 T A 7: 139,828,874 (GRCm39) C178S probably damaging Het
Scn3a A T 2: 65,338,918 (GRCm39) V587E probably damaging Het
Setdb1 A T 3: 95,232,164 (GRCm39) probably benign Het
Sgk3 T A 1: 9,949,306 (GRCm39) probably null Het
Shox2 A T 3: 66,881,184 (GRCm39) H265Q probably damaging Het
Slc9a2 T C 1: 40,783,017 (GRCm39) F427S possibly damaging Het
Smarca5 T A 8: 81,463,360 (GRCm39) Q69H probably benign Het
Specc1l T A 10: 75,084,293 (GRCm39) F672Y probably damaging Het
Ssh2 T A 11: 77,298,969 (GRCm39) S105R probably damaging Het
Syne2 C T 12: 75,968,000 (GRCm39) R917* probably null Het
Tbc1d2 G A 4: 46,649,913 (GRCm39) T41M possibly damaging Het
Tbx18 T A 9: 87,606,408 (GRCm39) I246F probably damaging Het
Tcf4 T A 18: 69,814,883 (GRCm39) probably benign Het
Tmed2 C A 5: 124,679,502 (GRCm39) probably null Het
Tmem243 A T 5: 9,151,361 (GRCm39) D15V possibly damaging Het
Vmn2r87 T A 10: 130,307,848 (GRCm39) S797C probably damaging Het
Vps13c T A 9: 67,793,528 (GRCm39) probably benign Het
Wls T A 3: 159,603,074 (GRCm39) C162* probably null Het
Zbtb7c C T 18: 76,270,464 (GRCm39) T184I probably benign Het
Zc3h13 A G 14: 75,546,405 (GRCm39) K169E probably damaging Het
Other mutations in Bbx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Bbx APN 16 50,022,876 (GRCm39) missense probably benign 0.08
IGL01544:Bbx APN 16 50,095,140 (GRCm39) nonsense probably null
IGL02073:Bbx APN 16 50,022,854 (GRCm39) missense probably damaging 1.00
IGL02302:Bbx APN 16 50,045,278 (GRCm39) missense probably damaging 1.00
IGL02566:Bbx APN 16 50,043,603 (GRCm39) splice site probably benign
IGL02618:Bbx APN 16 50,068,161 (GRCm39) missense probably damaging 1.00
IGL03187:Bbx APN 16 50,094,926 (GRCm39) missense probably damaging 0.96
IGL03215:Bbx APN 16 50,022,935 (GRCm39) missense probably damaging 1.00
IGL03295:Bbx APN 16 50,044,927 (GRCm39) missense probably damaging 1.00
dalton UTSW 16 50,030,805 (GRCm39) splice site probably null
BB001:Bbx UTSW 16 50,044,671 (GRCm39) missense probably damaging 1.00
BB009:Bbx UTSW 16 50,030,806 (GRCm39) critical splice donor site probably null
BB011:Bbx UTSW 16 50,044,671 (GRCm39) missense probably damaging 1.00
BB019:Bbx UTSW 16 50,030,806 (GRCm39) critical splice donor site probably null
PIT4378001:Bbx UTSW 16 50,100,836 (GRCm39) nonsense probably null
R0024:Bbx UTSW 16 50,045,281 (GRCm39) missense probably benign
R0024:Bbx UTSW 16 50,045,281 (GRCm39) missense probably benign
R0071:Bbx UTSW 16 50,100,755 (GRCm39) missense probably benign 0.32
R0071:Bbx UTSW 16 50,100,755 (GRCm39) missense probably benign 0.32
R0143:Bbx UTSW 16 50,100,755 (GRCm39) missense probably benign 0.32
R0144:Bbx UTSW 16 50,100,755 (GRCm39) missense probably benign 0.32
R0532:Bbx UTSW 16 50,086,647 (GRCm39) missense probably damaging 1.00
R0550:Bbx UTSW 16 50,094,896 (GRCm39) splice site probably benign
R0762:Bbx UTSW 16 50,045,529 (GRCm39) missense possibly damaging 0.94
R0881:Bbx UTSW 16 50,040,963 (GRCm39) splice site probably benign
R1448:Bbx UTSW 16 50,086,633 (GRCm39) nonsense probably null
R1916:Bbx UTSW 16 50,086,608 (GRCm39) missense probably damaging 1.00
R1983:Bbx UTSW 16 50,029,480 (GRCm39) missense possibly damaging 0.62
R2006:Bbx UTSW 16 50,044,758 (GRCm39) missense possibly damaging 0.93
R2095:Bbx UTSW 16 50,045,052 (GRCm39) missense possibly damaging 0.88
R2145:Bbx UTSW 16 50,094,907 (GRCm39) splice site probably benign
R2475:Bbx UTSW 16 50,040,882 (GRCm39) missense probably damaging 0.99
R2892:Bbx UTSW 16 50,045,104 (GRCm39) missense probably damaging 1.00
R4130:Bbx UTSW 16 50,045,221 (GRCm39) missense probably damaging 1.00
R4177:Bbx UTSW 16 50,045,221 (GRCm39) missense probably damaging 1.00
R4486:Bbx UTSW 16 50,020,777 (GRCm39) missense probably damaging 1.00
R4989:Bbx UTSW 16 50,045,101 (GRCm39) missense probably damaging 1.00
R5005:Bbx UTSW 16 50,086,714 (GRCm39) missense probably damaging 1.00
R5427:Bbx UTSW 16 50,100,860 (GRCm39) missense probably benign
R5582:Bbx UTSW 16 50,043,719 (GRCm39) missense probably damaging 1.00
R6063:Bbx UTSW 16 50,071,730 (GRCm39) missense probably benign
R6216:Bbx UTSW 16 50,071,751 (GRCm39) missense probably benign 0.00
R6246:Bbx UTSW 16 50,045,023 (GRCm39) missense probably benign 0.04
R6618:Bbx UTSW 16 50,086,626 (GRCm39) missense probably damaging 1.00
R6782:Bbx UTSW 16 50,020,928 (GRCm39) missense probably benign 0.00
R7007:Bbx UTSW 16 50,022,851 (GRCm39) missense possibly damaging 0.67
R7130:Bbx UTSW 16 50,030,805 (GRCm39) splice site probably null
R7864:Bbx UTSW 16 50,082,797 (GRCm39) missense probably damaging 0.99
R7924:Bbx UTSW 16 50,044,671 (GRCm39) missense probably damaging 1.00
R7932:Bbx UTSW 16 50,030,806 (GRCm39) critical splice donor site probably null
R8079:Bbx UTSW 16 50,030,821 (GRCm39) missense probably damaging 1.00
R8769:Bbx UTSW 16 50,061,227 (GRCm39) missense probably damaging 1.00
R8833:Bbx UTSW 16 50,045,629 (GRCm39) missense probably benign
R9087:Bbx UTSW 16 50,094,998 (GRCm39) missense probably damaging 0.99
R9126:Bbx UTSW 16 50,020,813 (GRCm39) missense probably damaging 1.00
R9272:Bbx UTSW 16 50,022,935 (GRCm39) missense probably damaging 1.00
R9284:Bbx UTSW 16 50,045,023 (GRCm39) missense probably benign 0.04
R9583:Bbx UTSW 16 50,044,920 (GRCm39) missense possibly damaging 0.55
R9622:Bbx UTSW 16 50,095,022 (GRCm39) missense probably damaging 0.98
R9798:Bbx UTSW 16 50,045,121 (GRCm39) missense probably damaging 1.00
X0021:Bbx UTSW 16 50,068,168 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- GCTAGAGACGGATTCCTTGTGCTC -3'
(R):5'- AACCAGGTGACAGCCTGAATAAGC -3'

Sequencing Primer
(F):5'- AGACGGATTCCTTGTGCTCTAAAC -3'
(R):5'- GGGAACGTAACTGGTAATCCTC -3'
Posted On 2013-05-23