Incidental Mutation 'R4130:Bbx'
ID 315518
Institutional Source Beutler Lab
Gene Symbol Bbx
Ensembl Gene ENSMUSG00000022641
Gene Name bobby sox HMG box containing
Synonyms 5730403O13Rik, 5530401J07Rik
MMRRC Submission 041636-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4130 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 50012207-50252753 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50045221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 447 (K447E)
Ref Sequence ENSEMBL: ENSMUSP00000119238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066037] [ENSMUST00000089399] [ENSMUST00000089404] [ENSMUST00000114477] [ENSMUST00000114488] [ENSMUST00000138166]
AlphaFold Q8VBW5
Predicted Effect probably damaging
Transcript: ENSMUST00000066037
AA Change: K339E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: K339E

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 damaging
Transcript: ENSMUST00000089399
AA Change: K447E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086821
Gene: ENSMUSG00000022641
AA Change: K447E

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 damaging
Transcript: ENSMUST00000089404
AA Change: K447E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: K447E

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 damaging
Transcript: ENSMUST00000114488
AA Change: K447E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: K447E

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 damaging
Transcript: ENSMUST00000138166
AA Change: K447E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: K447E

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 0.1242 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (29/29)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021A07Rik T C 10: 21,301,441 (GRCm39) noncoding transcript Het
A4gnt A G 9: 99,502,671 (GRCm39) D277G possibly damaging Het
Adam12 C T 7: 133,514,653 (GRCm39) V345I probably damaging Het
Ankrd29 G A 18: 12,387,757 (GRCm39) A275V possibly damaging Het
Arpp21 T A 9: 111,984,376 (GRCm39) probably benign Het
Bcar1 A G 8: 112,440,797 (GRCm39) L399P possibly damaging Het
Cytl1 T C 5: 37,892,985 (GRCm39) S32P probably damaging Het
Eif4e1b C T 13: 54,935,130 (GRCm39) T219M probably benign Het
F10 A G 8: 13,105,584 (GRCm39) D383G possibly damaging Het
Gm37267 T G 1: 180,336,643 (GRCm39) noncoding transcript Het
Golga2 G A 2: 32,178,178 (GRCm39) R29H probably benign Het
Gpd1 A T 15: 99,617,158 (GRCm39) probably null Het
Lrrk2 G A 15: 91,639,997 (GRCm39) R1514Q probably benign Het
Map1b T C 13: 99,568,188 (GRCm39) E1511G unknown Het
Nup35 G A 2: 80,486,443 (GRCm39) probably benign Het
Or13n4 C T 7: 106,422,792 (GRCm39) G314S probably benign Het
Pdzd9 A T 7: 120,262,092 (GRCm39) D123E possibly damaging Het
Pramel29 T A 4: 143,935,379 (GRCm39) I121F probably damaging Het
Rab3gap2 A G 1: 184,936,494 (GRCm39) D19G possibly damaging Het
Rnf213 T C 11: 119,373,832 (GRCm39) S4972P probably damaging Het
Skap1 A G 11: 96,416,871 (GRCm39) Y52C probably damaging Het
Sphkap T C 1: 83,255,619 (GRCm39) N710S probably damaging Het
Tedc1 T A 12: 113,126,828 (GRCm39) D363E probably benign Het
Vmn2r44 T A 7: 8,370,918 (GRCm39) Q709H probably damaging Het
Wdr5 G T 2: 27,410,441 (GRCm39) probably benign 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
R0374: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
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'- GGGTTTCTCCGAGTTTGTCAAC -3'
(R):5'- ACATCGAACAGCTACAGATGG -3'

Sequencing Primer
(F):5'- GAGTTTGTCAACACCCCAGTC -3'
(R):5'- TCATGGCTATCAAAGTGGAAGACCC -3'
Posted On 2015-05-14