Incidental Mutation 'R0143:Bbx'
ID |
60794 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bbx
|
Ensembl Gene |
ENSMUSG00000022641 |
Gene Name |
bobby sox HMG box containing |
Synonyms |
5730403O13Rik, 5530401J07Rik |
MMRRC Submission |
038428-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0143 (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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
97% (76/78) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
A |
T |
18: 61,988,288 (GRCm39) |
I145N |
probably benign |
Het |
Ankrd1 |
G |
A |
19: 36,096,713 (GRCm39) |
A38V |
probably benign |
Het |
Ankrd34b |
A |
G |
13: 92,576,268 (GRCm39) |
E500G |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,916,890 (GRCm39) |
T419A |
probably damaging |
Het |
B3galt2 |
A |
T |
1: 143,523,072 (GRCm39) |
N403Y |
possibly damaging |
Het |
C4b |
G |
A |
17: 34,953,193 (GRCm39) |
|
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,324,693 (GRCm39) |
|
probably null |
Het |
Cdh3 |
T |
C |
8: 107,237,857 (GRCm39) |
V17A |
probably benign |
Het |
Cog7 |
A |
T |
7: 121,550,387 (GRCm39) |
L379Q |
probably damaging |
Het |
Cul9 |
T |
C |
17: 46,837,336 (GRCm39) |
N1044S |
possibly damaging |
Het |
Cyp4b1 |
C |
T |
4: 115,493,071 (GRCm39) |
D258N |
probably damaging |
Het |
Ddx39a |
T |
C |
8: 84,447,179 (GRCm39) |
V113A |
probably benign |
Het |
Dennd4b |
A |
T |
3: 90,179,671 (GRCm39) |
H643L |
probably damaging |
Het |
Dpy19l3 |
T |
C |
7: 35,413,640 (GRCm39) |
T334A |
probably benign |
Het |
Dsg3 |
T |
C |
18: 20,669,882 (GRCm39) |
L632S |
probably damaging |
Het |
Dtx4 |
G |
A |
19: 12,463,846 (GRCm39) |
T312I |
probably damaging |
Het |
Dusp18 |
C |
T |
11: 3,847,243 (GRCm39) |
R78C |
probably benign |
Het |
Fes |
A |
C |
7: 80,033,643 (GRCm39) |
F203V |
probably benign |
Het |
Fhad1 |
C |
A |
4: 141,656,957 (GRCm39) |
|
probably benign |
Het |
Gjb2 |
T |
C |
14: 57,337,526 (GRCm39) |
|
silent |
Het |
Gm5828 |
T |
C |
1: 16,838,579 (GRCm39) |
|
noncoding transcript |
Het |
Gsdma |
A |
C |
11: 98,557,080 (GRCm39) |
E65A |
probably damaging |
Het |
Hck |
T |
A |
2: 152,976,140 (GRCm39) |
|
probably null |
Het |
Henmt1 |
A |
T |
3: 108,861,118 (GRCm39) |
H47L |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,005,099 (GRCm39) |
F566L |
probably damaging |
Het |
Hnrnpl |
T |
C |
7: 28,513,617 (GRCm39) |
|
probably benign |
Het |
Igsf3 |
T |
C |
3: 101,342,917 (GRCm39) |
I518T |
probably damaging |
Het |
Ireb2 |
T |
C |
9: 54,793,193 (GRCm39) |
F223L |
probably benign |
Het |
Isoc2a |
T |
C |
7: 4,894,331 (GRCm39) |
|
probably null |
Het |
Krt73 |
T |
A |
15: 101,709,208 (GRCm39) |
R200W |
probably damaging |
Het |
Lgals9 |
T |
A |
11: 78,854,361 (GRCm39) |
I308F |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,429,811 (GRCm39) |
F420L |
probably damaging |
Het |
Mep1b |
T |
C |
18: 21,228,164 (GRCm39) |
|
probably benign |
Het |
Mex3a |
G |
T |
3: 88,443,562 (GRCm39) |
A213S |
probably benign |
Het |
Mmp13 |
T |
C |
9: 7,276,558 (GRCm39) |
F218L |
probably damaging |
Het |
Ncf1 |
G |
T |
5: 134,255,991 (GRCm39) |
|
probably benign |
Het |
Notch2 |
A |
G |
3: 98,053,433 (GRCm39) |
D2032G |
probably damaging |
Het |
Or10h28 |
T |
C |
17: 33,488,471 (GRCm39) |
S258P |
probably damaging |
Het |
Or5p1 |
A |
G |
7: 107,916,202 (GRCm39) |
I34V |
probably benign |
Het |
Or9i1b |
A |
C |
19: 13,896,614 (GRCm39) |
I77L |
probably damaging |
Het |
Pex16 |
G |
A |
2: 92,210,802 (GRCm39) |
G312D |
probably damaging |
Het |
Pex5 |
A |
T |
6: 124,375,448 (GRCm39) |
W525R |
probably damaging |
Het |
Plcb4 |
T |
A |
2: 135,818,131 (GRCm39) |
I799N |
probably damaging |
Het |
Poldip3 |
G |
A |
15: 83,012,144 (GRCm39) |
L372F |
probably damaging |
Het |
Polg2 |
C |
A |
11: 106,668,352 (GRCm39) |
V174L |
probably benign |
Het |
Prrt4 |
C |
G |
6: 29,170,670 (GRCm39) |
G594A |
probably damaging |
Het |
Prss1 |
A |
G |
6: 41,440,522 (GRCm39) |
D199G |
probably damaging |
Het |
Rbms2 |
T |
A |
10: 127,973,823 (GRCm39) |
Q207L |
probably benign |
Het |
Retreg2 |
A |
G |
1: 75,123,074 (GRCm39) |
D334G |
possibly damaging |
Het |
Slc6a15 |
T |
G |
10: 103,253,929 (GRCm39) |
C622G |
probably benign |
Het |
Spdya |
T |
A |
17: 71,865,635 (GRCm39) |
D84E |
probably damaging |
Het |
Stat3 |
A |
T |
11: 100,785,982 (GRCm39) |
S432T |
possibly damaging |
Het |
Tiam1 |
A |
T |
16: 89,695,088 (GRCm39) |
V123E |
probably benign |
Het |
Tnpo3 |
A |
G |
6: 29,565,651 (GRCm39) |
|
probably benign |
Het |
Tnrc6c |
A |
C |
11: 117,643,811 (GRCm39) |
N1481H |
probably damaging |
Het |
Top3b |
T |
C |
16: 16,701,389 (GRCm39) |
S234P |
probably damaging |
Het |
Tor1aip2 |
A |
T |
1: 155,935,294 (GRCm39) |
T10S |
probably benign |
Het |
Tpsab1 |
T |
A |
17: 25,562,418 (GRCm39) |
H303L |
probably benign |
Het |
Traf3 |
T |
A |
12: 111,228,010 (GRCm39) |
V407D |
probably damaging |
Het |
Trim33 |
T |
A |
3: 103,259,417 (GRCm39) |
D1035E |
probably benign |
Het |
Ttc38 |
T |
C |
15: 85,737,920 (GRCm39) |
V402A |
possibly damaging |
Het |
Ube4b |
C |
T |
4: 149,439,914 (GRCm39) |
R646H |
possibly damaging |
Het |
Usp8 |
C |
A |
2: 126,597,009 (GRCm39) |
|
probably benign |
Het |
Zdbf2 |
A |
T |
1: 63,347,233 (GRCm39) |
I1871F |
probably benign |
Het |
Zfp345 |
T |
A |
2: 150,314,475 (GRCm39) |
Q354L |
probably benign |
Het |
Zfp462 |
C |
A |
4: 55,023,402 (GRCm39) |
|
probably benign |
Het |
Zfp81 |
G |
A |
17: 33,554,095 (GRCm39) |
H240Y |
possibly damaging |
Het |
Zfp830 |
A |
G |
11: 82,655,994 (GRCm39) |
D266G |
possibly damaging |
Het |
|
Other mutations in Bbx |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2013-07-24 |