Incidental Mutation 'R5427:Bbx'
ID 426980
Institutional Source Beutler Lab
Gene Symbol Bbx
Ensembl Gene ENSMUSG00000022641
Gene Name bobby sox HMG box containing
Synonyms 5730403O13Rik, 5530401J07Rik
MMRRC Submission 042993-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5427 (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 50100860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 12 (T12A)
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: T12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: T12A

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: T12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086821
Gene: ENSMUSG00000022641
AA Change: T12A

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: T12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: T12A

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: T12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: T12A

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: T12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: T12A

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: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (58/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,248,385 (GRCm39) V277A possibly damaging Het
Adcy7 G A 8: 89,052,829 (GRCm39) probably null Het
Adgrg5 A T 8: 95,661,730 (GRCm39) D157V probably benign Het
Akap13 A G 7: 75,378,617 (GRCm39) N2090S possibly damaging Het
Alpi T C 1: 87,029,076 (GRCm39) N33D probably benign Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Anp32a A G 9: 62,284,598 (GRCm39) probably benign Het
Atg4b G C 1: 93,702,928 (GRCm39) K86N probably damaging Het
Catsperg2 T C 7: 29,414,275 (GRCm39) T377A possibly damaging Het
Ccdc158 T C 5: 92,796,821 (GRCm39) Q505R probably damaging Het
Cep135 T A 5: 76,786,049 (GRCm39) S1051T probably benign Het
Cryab A G 9: 50,667,593 (GRCm39) D109G probably damaging Het
Crym A C 7: 119,798,445 (GRCm39) probably benign Het
Csf2rb2 T A 15: 78,173,111 (GRCm39) S250C probably damaging Het
Diaph1 A T 18: 38,023,648 (GRCm39) V730E unknown Het
Eci3 G T 13: 35,143,931 (GRCm39) L65M possibly damaging Het
Erg28 T C 12: 85,866,341 (GRCm39) N46D probably damaging Het
Fam89b A G 19: 5,778,819 (GRCm39) S127P probably benign Het
Fign A G 2: 63,809,342 (GRCm39) Y643H probably damaging Het
Galk2 T C 2: 125,788,741 (GRCm39) V265A probably benign Het
Gclm T C 3: 122,059,976 (GRCm39) V252A probably damaging Het
Git2 A G 5: 114,868,389 (GRCm39) S584P possibly damaging Het
Iqcf3 T C 9: 106,421,059 (GRCm39) probably null Het
Kcnk3 A G 5: 30,779,639 (GRCm39) T230A possibly damaging Het
Mettl25b T C 3: 87,831,639 (GRCm39) probably benign Het
Myh10 T C 11: 68,693,757 (GRCm39) L1486P probably damaging Het
Myom2 C A 8: 15,163,764 (GRCm39) A1006E probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nampt A T 12: 32,884,914 (GRCm39) H111L probably benign Het
Nid1 A G 13: 13,658,268 (GRCm39) Y671C probably damaging Het
Npy5r G A 8: 67,133,672 (GRCm39) R374C probably damaging Het
Or10ag54 A T 2: 87,099,858 (GRCm39) K244N probably benign Het
Or5b123 A T 19: 13,596,714 (GRCm39) S20C probably benign Het
Palld C T 8: 62,003,106 (GRCm39) C720Y probably benign Het
Pcsk6 C T 7: 65,683,647 (GRCm39) T606M probably benign Het
Pfas T C 11: 68,891,979 (GRCm39) I176M possibly damaging Het
Pi4kb A G 3: 94,901,518 (GRCm39) D395G probably benign Het
Plod3 A T 5: 137,020,642 (GRCm39) Y547F probably damaging Het
Plscr1l1 G A 9: 92,234,649 (GRCm39) C128Y probably benign Het
Pnpo T C 11: 96,834,633 (GRCm39) Y21C probably benign Het
Rgs1 A T 1: 144,122,018 (GRCm39) C118* probably null Het
Slc22a27 A G 19: 7,856,753 (GRCm39) probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sppl2c G A 11: 104,078,693 (GRCm39) V498I probably benign Het
Stim2 A T 5: 54,268,281 (GRCm39) I448F possibly damaging Het
Sulf1 A T 1: 12,867,136 (GRCm39) T107S possibly damaging Het
Tenm3 A G 8: 48,689,599 (GRCm39) V1996A probably damaging Het
Timm23 G A 14: 31,911,103 (GRCm39) T171I possibly damaging Het
Tssk2 A G 16: 17,716,729 (GRCm39) D44G probably damaging Het
Vmn2r28 A T 7: 5,489,376 (GRCm39) Y488N probably damaging Het
Zbed6 A G 1: 133,585,333 (GRCm39) V668A possibly damaging Het
Zbtb48 A G 4: 152,105,108 (GRCm39) F518S probably damaging Het
Zfp709 A G 8: 72,642,976 (GRCm39) E135G probably benign Het
Zfp788 G A 7: 41,299,076 (GRCm39) V571I possibly damaging Het
Zfp963 A G 8: 70,196,106 (GRCm39) S116P 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
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
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'- AGACGGATTCCTTGTGCTC -3'
(R):5'- CCAGTAAATGTGTGAGCTGATAGATG -3'

Sequencing Primer
(F):5'- AGACGGATTCCTTGTGCTCTAAAC -3'
(R):5'- AATGTGTGAGCTGATAGATGGTTTAG -3'
Posted On 2016-09-01