Incidental Mutation 'R9284:Bbx'
ID 703840
Institutional Source Beutler Lab
Gene Symbol Bbx
Ensembl Gene ENSMUSG00000022641
Gene Name bobby sox HMG box containing
Synonyms 5730403O13Rik, 5530401J07Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9284 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 50012207-50252753 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50045023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 513 (S513P)
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: S405P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: S405P

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: S513P

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000086821
Gene: ENSMUSG00000022641
AA Change: S513P

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: S513P

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: S513P

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: S513P

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: S513P

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: S513P

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: S513P

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 0.1025 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T G 4: 144,504,191 (GRCm39) Q320P probably damaging Het
Adamtsl2 G A 2: 26,994,055 (GRCm39) probably benign Het
Adgrl3 T A 5: 81,657,568 (GRCm39) probably benign Het
Angptl3 A G 4: 98,919,480 (GRCm39) Q80R probably benign Het
Atmin G A 8: 117,684,019 (GRCm39) V560M probably benign Het
Cacng8 C A 7: 3,459,746 (GRCm39) Y112* probably null Het
Catsperg2 A G 7: 29,405,006 (GRCm39) probably null Het
Ccdc12 A C 9: 110,540,203 (GRCm39) T131P probably damaging Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Cep95 A T 11: 106,704,624 (GRCm39) H493L probably benign Het
Cntnap1 A G 11: 101,068,137 (GRCm39) T50A probably benign Het
Cyp3a16 T A 5: 145,377,304 (GRCm39) I428F probably damaging Het
Dnhd1 G T 7: 105,301,091 (GRCm39) L149F probably damaging Het
Dop1b T A 16: 93,557,196 (GRCm39) V497E probably damaging Het
Erich3 A T 3: 154,404,308 (GRCm39) N55I Het
Fbxw26 A T 9: 109,550,962 (GRCm39) probably benign Het
Gm4841 A G 18: 60,403,895 (GRCm39) I66T probably damaging Het
Gp5 G A 16: 30,127,094 (GRCm39) L527F probably damaging Het
Gpatch2l G A 12: 86,290,883 (GRCm39) G22D probably benign Het
Isg20l2 T A 3: 87,838,991 (GRCm39) D67E probably benign Het
Itgae G A 11: 73,012,752 (GRCm39) V695I probably benign Het
Itpr2 A T 6: 146,256,174 (GRCm39) N1006K probably benign Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Lama3 C T 18: 12,583,541 (GRCm39) Q710* probably null Het
Loxhd1 C T 18: 77,501,826 (GRCm39) A1715V probably damaging Het
Map3k20 C T 2: 72,228,755 (GRCm39) Q325* probably null Het
Med1 A T 11: 98,046,366 (GRCm39) S1477T unknown Het
Mr1 T A 1: 155,013,274 (GRCm39) H101L probably benign Het
Mtor T A 4: 148,543,537 (GRCm39) S405T probably benign Het
Nme9 G C 9: 99,338,321 (GRCm39) probably null Het
Nom1 T A 5: 29,647,532 (GRCm39) I589N probably damaging Het
Nr6a1 A T 2: 38,638,890 (GRCm39) D148E probably damaging Het
Nup160 T C 2: 90,548,375 (GRCm39) V1006A possibly damaging Het
Or2ag1b A T 7: 106,288,416 (GRCm39) I174N possibly damaging Het
Or2aj4 A G 16: 19,385,357 (GRCm39) I92T probably damaging Het
Or4d10b A T 19: 12,036,273 (GRCm39) L281Q probably damaging Het
Or5d37 T A 2: 87,924,278 (GRCm39) M1L probably benign Het
Or6c200-ps1 G A 10: 128,869,821 (GRCm39) P297S probably damaging Het
Phyhd1 G T 2: 30,156,879 (GRCm39) G7* probably null Het
Pla2g4e T C 2: 120,004,730 (GRCm39) probably benign Het
Ppfia3 A G 7: 45,011,222 (GRCm39) C3R probably damaging Het
Pramel1 T C 4: 143,123,769 (GRCm39) V148A probably benign Het
Ptpdc1 A T 13: 48,740,167 (GRCm39) D421E probably benign Het
Rapgef2 A T 3: 79,000,010 (GRCm39) D579E probably damaging Het
Rbpj T G 5: 53,810,724 (GRCm39) V448G probably damaging Het
Rif1 T C 2: 51,998,564 (GRCm39) V1067A probably benign Het
Scfd1 A T 12: 51,439,024 (GRCm39) N162I probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sp110 A T 1: 85,507,363 (GRCm39) probably null Het
Sparcl1 A T 5: 104,236,345 (GRCm39) C469* probably null Het
Srebf2 G A 15: 82,066,357 (GRCm39) R635Q probably benign Het
Stard7 T G 2: 127,132,956 (GRCm39) S250A probably damaging Het
Stxbp5l A C 16: 37,028,442 (GRCm39) Y540* probably null Het
Tlr5 T C 1: 182,801,377 (GRCm39) V227A probably benign Het
Tmem132b T C 5: 125,864,711 (GRCm39) I939T possibly damaging Het
Tnik G T 3: 28,593,570 (GRCm39) S142I unknown Het
Trim6 A G 7: 103,882,116 (GRCm39) T482A probably damaging Het
Tssk5 A G 15: 76,257,168 (GRCm39) I238T probably benign Het
Ugt2b35 A G 5: 87,156,140 (GRCm39) T411A probably benign Het
Zc2hc1b C A 10: 13,043,562 (GRCm39) R111L probably benign Het
Zfp266 A T 9: 20,411,300 (GRCm39) C292* probably null 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
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
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'- ACAATCACTATCCTCAGGCTTAGC -3'
(R):5'- ACTGGATCGACACGGAAATG -3'

Sequencing Primer
(F):5'- TAGGTGGCAGTGCATCCTC -3'
(R):5'- CTGGATCGACACGGAAATGACAAATC -3'
Posted On 2022-03-25