Incidental Mutation 'R0071:Bbx'
ID 43890
Institutional Source Beutler Lab
Gene Symbol Bbx
Ensembl Gene ENSMUSG00000022641
Gene Name bobby sox HMG box containing
Synonyms 5730403O13Rik, 5530401J07Rik
MMRRC Submission 038362-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0071 (G1)
Quality Score 225
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: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.2%
Validation Efficiency 99% (78/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A G 14: 35,812,746 (GRCm39) probably benign Het
Acot12 T C 13: 91,929,293 (GRCm39) probably benign Het
Acrbp T C 6: 125,027,915 (GRCm39) probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Aox3 T A 1: 58,211,050 (GRCm39) C931* probably null Het
Apob T A 12: 8,052,111 (GRCm39) V1184E probably damaging Het
Arhgap44 A T 11: 64,902,721 (GRCm39) L582Q possibly damaging Het
Bccip A G 7: 133,315,960 (GRCm39) D72G probably damaging Het
Bckdha A T 7: 25,329,868 (GRCm39) probably null Het
Bmerb1 A G 16: 13,906,818 (GRCm39) D11G probably damaging Het
Cald1 C T 6: 34,735,069 (GRCm39) probably benign Het
Cby2 A G 14: 75,821,621 (GRCm39) S44P probably benign Het
Cdk11b T C 4: 155,733,880 (GRCm39) probably benign Het
Cebpe G T 14: 54,948,061 (GRCm39) R261S probably damaging Het
Cep95 C T 11: 106,681,554 (GRCm39) probably benign Het
Chi3l1 T C 1: 134,113,017 (GRCm39) Y150H probably benign Het
Chrnd T C 1: 87,120,559 (GRCm39) probably benign Het
Clec4g T A 8: 3,767,489 (GRCm39) probably benign Het
Cog2 T C 8: 125,275,407 (GRCm39) probably benign Het
Coro7 A T 16: 4,488,391 (GRCm39) L93Q probably damaging Het
Csmd3 T C 15: 47,460,217 (GRCm39) T3525A probably benign Het
Ctsc G A 7: 87,957,357 (GRCm39) probably benign Het
Dnajc16 T C 4: 141,495,318 (GRCm39) T467A probably benign Het
Dnmt1 G A 9: 20,819,916 (GRCm39) T1409I probably damaging Het
Fam227b T A 2: 125,965,994 (GRCm39) N144Y probably benign Het
Fam83h A G 15: 75,874,377 (GRCm39) S987P probably benign Het
Fhod1 A T 8: 106,063,857 (GRCm39) probably null Het
Folr1 A G 7: 101,513,130 (GRCm39) probably null Het
Glis3 C T 19: 28,241,255 (GRCm39) probably benign Het
Gm10069 T C 6: 128,449,688 (GRCm39) noncoding transcript Het
Golgb1 G A 16: 36,735,865 (GRCm39) R1704Q probably benign Het
Gpr158 C A 2: 21,815,479 (GRCm39) T624K probably benign Het
Helz2 T C 2: 180,878,200 (GRCm39) Y866C probably damaging Het
Itpkb T A 1: 180,160,330 (GRCm39) V152E probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Klhl32 A G 4: 24,743,907 (GRCm39) V88A probably damaging Het
Lct C T 1: 128,219,755 (GRCm39) W1631* probably null Het
Lipa T A 19: 34,472,482 (GRCm39) K313M probably damaging Het
Ly75 T C 2: 60,152,163 (GRCm39) K1130R probably benign Het
Mamdc2 C A 19: 23,280,994 (GRCm39) E685* probably null Het
Mdm1 A G 10: 117,982,701 (GRCm39) E112G probably damaging Het
Metrnl A T 11: 121,606,826 (GRCm39) M212L probably benign Het
Mettl2 A G 11: 105,022,468 (GRCm39) probably benign Het
Mxd3 A T 13: 55,477,449 (GRCm39) L11Q probably damaging Het
Myo7a A T 7: 97,706,037 (GRCm39) Y1836N probably damaging Het
Nsun7 A G 5: 66,421,388 (GRCm39) Y118C probably benign Het
Obscn G A 11: 58,955,027 (GRCm39) T3962M possibly damaging Het
Or13a20 A T 7: 140,232,170 (GRCm39) I93F probably benign Het
Or2d36 A G 7: 106,746,919 (GRCm39) Y132C probably damaging Het
Or5k3 C A 16: 58,969,578 (GRCm39) R122S probably benign Het
Osbpl11 T C 16: 33,034,708 (GRCm39) probably benign Het
Pcdhb22 A T 18: 37,653,131 (GRCm39) D276V probably damaging Het
Pik3cb A T 9: 98,926,918 (GRCm39) D886E probably benign Het
Pkhd1 T A 1: 20,271,568 (GRCm39) Y2995F probably benign Het
Raver2 C T 4: 100,977,642 (GRCm39) probably benign Het
Rhbdf1 A G 11: 32,160,498 (GRCm39) L684P probably damaging Het
Rufy2 C A 10: 62,824,946 (GRCm39) L75M possibly damaging Het
Sec22c A G 9: 121,521,979 (GRCm39) F44L probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Serpina1a T C 12: 103,822,002 (GRCm39) K310R probably benign Het
Shoc1 A G 4: 59,059,643 (GRCm39) Y1006H possibly damaging Het
Sobp A G 10: 43,033,993 (GRCm39) L111P probably damaging Het
Sparcl1 G T 5: 104,233,707 (GRCm39) Y547* probably null Het
Spata31d1b G A 13: 59,863,163 (GRCm39) A104T probably benign Het
Spsb3 A G 17: 25,106,878 (GRCm39) D184G probably damaging Het
Sptan1 A T 2: 29,893,354 (GRCm39) K1148* probably null Het
Tdrd12 A G 7: 35,228,671 (GRCm39) V17A possibly damaging Het
Tlr9 A G 9: 106,100,777 (GRCm39) T23A probably benign Het
Tra2b A T 16: 22,073,151 (GRCm39) probably benign Het
Tspan15 A G 10: 62,038,849 (GRCm39) probably benign Het
Ttc41 A G 10: 86,572,710 (GRCm39) N694S probably benign Het
Ttn T G 2: 76,597,813 (GRCm39) D19700A probably damaging Het
Ube3b G A 5: 114,557,558 (GRCm39) G1014D probably damaging Het
Unc5d A G 8: 29,209,854 (GRCm39) V422A possibly damaging Het
Vmn2r80 C T 10: 79,007,566 (GRCm39) T514I possibly damaging Het
Zfp595 T C 13: 67,464,917 (GRCm39) K452E possibly damaging Het
Zfp607a A G 7: 27,577,694 (GRCm39) K255E probably damaging Het
Zxdc T G 6: 90,347,398 (GRCm39) V253G 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
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
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'- TTGTGATGGGAACCAGGTGACAGC -3'

Sequencing Primer
(F):5'- AGACGGATTCCTTGTGCTCTAAAC -3'
(R):5'- GGGAACGTAACTGGTAATCCTC -3'
Posted On 2013-05-29