Incidental Mutation 'IGL02618:Bbx'
ID 300740
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bbx
Ensembl Gene ENSMUSG00000022641
Gene Name bobby sox HMG box containing
Synonyms 5730403O13Rik, 5530401J07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02618
Quality Score
Status
Chromosome 16
Chromosomal Location 50012207-50252753 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50068161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 161 (L161S)
Ref Sequence ENSEMBL: ENSMUSP00000066384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066037] [ENSMUST00000089399] [ENSMUST00000089404] [ENSMUST00000114477] [ENSMUST00000114488] [ENSMUST00000138166]
AlphaFold Q8VBW5
PDB Structure Solution Structure of the HMG_box Domain of Murine Bobby Sox Homolog [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000066037
AA Change: L161S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: L161S

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 possibly damaging
Transcript: ENSMUST00000089399
AA Change: L269S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000086821
Gene: ENSMUSG00000022641
AA Change: L269S

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 possibly damaging
Transcript: ENSMUST00000089404
AA Change: L269S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: L269S

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 possibly damaging
Transcript: ENSMUST00000114488
AA Change: L269S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: L269S

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 possibly damaging
Transcript: ENSMUST00000138166
AA Change: L269S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: L269S

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
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G A 12: 55,104,086 (GRCm39) Q178* probably null Het
Adgre1 T A 17: 57,751,021 (GRCm39) V565E possibly damaging Het
Arfgef2 C A 2: 166,695,233 (GRCm39) N535K probably damaging Het
Bclaf1 T C 10: 20,199,274 (GRCm39) S224P probably damaging Het
Car2 A G 3: 14,963,032 (GRCm39) D189G probably benign Het
Catsperb A T 12: 101,446,983 (GRCm39) probably benign Het
Ccdc88c C T 12: 100,879,812 (GRCm39) V1770I probably benign Het
Cebpe T C 14: 54,948,234 (GRCm39) D203G probably damaging Het
Chn2 A G 6: 54,197,422 (GRCm39) N104S probably damaging Het
Clec2i G A 6: 128,873,464 (GRCm39) C231Y probably damaging Het
Col4a5 C T X: 140,466,678 (GRCm39) P1557S probably damaging Het
Creb3l1 T C 2: 91,813,543 (GRCm39) N498S probably benign Het
Ctnnal1 A T 4: 56,817,060 (GRCm39) D587E probably benign Het
Dnmt3l T C 10: 77,889,856 (GRCm39) probably benign Het
Dock7 A G 4: 98,971,265 (GRCm39) V100A probably benign Het
Frk C T 10: 34,459,960 (GRCm39) T185I possibly damaging Het
Frmd4b G A 6: 97,285,066 (GRCm39) Q340* probably null Het
Lima1 C A 15: 99,700,097 (GRCm39) probably benign Het
Mtcl2 A G 2: 156,882,486 (GRCm39) L522P probably damaging Het
Ndrg1 G A 15: 66,812,086 (GRCm39) H202Y probably benign Het
Nxpe2 T G 9: 48,237,634 (GRCm39) N207T probably damaging Het
Or5ac19 A T 16: 59,089,290 (GRCm39) S247T probably damaging Het
Pdzph1 T C 17: 59,186,068 (GRCm39) probably benign Het
Pinx1 A G 14: 64,105,969 (GRCm39) D75G probably damaging Het
Plxdc1 A T 11: 97,823,130 (GRCm39) D370E probably benign Het
Polb A T 8: 23,127,109 (GRCm39) L228Q probably damaging Het
Rab3gap2 T A 1: 184,983,938 (GRCm39) I521N possibly damaging Het
Rapgef1 A G 2: 29,627,955 (GRCm39) D1045G probably damaging Het
Rbks A T 5: 31,781,863 (GRCm39) Y312* probably null Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Src A T 2: 157,306,698 (GRCm39) K234* probably null Het
Stk36 C A 1: 74,670,834 (GRCm39) probably benign Het
Ttll6 G T 11: 96,038,388 (GRCm39) C412F probably benign Het
Zfp58 A G 13: 67,639,475 (GRCm39) F339L possibly 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
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
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
Posted On 2015-04-16