Incidental Mutation 'R8769:Bbx'
| ID |
664313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbx
|
| Ensembl Gene |
ENSMUSG00000022641 |
| Gene Name |
bobby sox HMG box containing |
| Synonyms |
5730403O13Rik, 5530401J07Rik |
| MMRRC Submission |
068624-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8769 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
50012207-50252753 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50061227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 298
(Q298R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066037]
[ENSMUST00000089399]
[ENSMUST00000089404]
[ENSMUST00000114488]
[ENSMUST00000138166]
|
| AlphaFold |
Q8VBW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066037
AA Change: Q190R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: Q190R
| 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 damaging
Transcript: ENSMUST00000089399
AA Change: Q298R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000086821
Gene: ENSMUSG00000022641
AA Change: Q298R
| 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 damaging
Transcript: ENSMUST00000089404
AA Change: Q298R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: Q298R
| 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 |
probably damaging
Transcript: ENSMUST00000114488
AA Change: Q298R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: Q298R
| 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 |
probably damaging
Transcript: ENSMUST00000138166
AA Change: Q298R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: Q298R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
97% (57/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
T |
A |
2: 68,446,589 (GRCm39) |
N289K |
unknown |
Het |
| Adgrl2 |
T |
C |
3: 148,522,917 (GRCm39) |
I436V |
|
Het |
| Agbl3 |
C |
T |
6: 34,834,549 (GRCm39) |
S911L |
probably damaging |
Het |
| Ampd2 |
C |
T |
3: 107,982,613 (GRCm39) |
M714I |
probably damaging |
Het |
| Asb6 |
T |
C |
2: 30,718,143 (GRCm39) |
D19G |
possibly damaging |
Het |
| Atosa |
C |
A |
9: 74,933,107 (GRCm39) |
L1025I |
probably damaging |
Het |
| Bcl9l |
T |
A |
9: 44,420,263 (GRCm39) |
M1223K |
probably benign |
Het |
| Ccr3 |
T |
A |
9: 123,829,096 (GRCm39) |
F144I |
possibly damaging |
Het |
| Cfap74 |
T |
A |
4: 155,503,105 (GRCm39) |
F32L |
|
Het |
| Clhc1 |
G |
A |
11: 29,511,401 (GRCm39) |
E293K |
probably damaging |
Het |
| Col22a1 |
A |
T |
15: 71,878,571 (GRCm39) |
D195E |
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,376,003 (GRCm39) |
D1512V |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,832,828 (GRCm39) |
T1372A |
possibly damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,857,208 (GRCm39) |
D490E |
possibly damaging |
Het |
| E4f1 |
C |
T |
17: 24,663,574 (GRCm39) |
V626M |
probably damaging |
Het |
| Edc3 |
C |
T |
9: 57,634,678 (GRCm39) |
R232C |
probably damaging |
Het |
| Eppk1 |
A |
G |
15: 75,994,895 (GRCm39) |
I662T |
probably benign |
Het |
| G3bp2 |
C |
T |
5: 92,231,356 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
T |
C |
4: 125,550,166 (GRCm39) |
L397P |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,419,936 (GRCm39) |
N627S |
possibly damaging |
Het |
| Hecw2 |
C |
T |
1: 53,952,507 (GRCm39) |
V909I |
probably benign |
Het |
| Hsd17b12 |
A |
T |
2: 93,945,397 (GRCm39) |
M75K |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,977,633 (GRCm39) |
T809I |
probably benign |
Het |
| Itih1 |
A |
G |
14: 30,655,381 (GRCm39) |
S609P |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,629,666 (GRCm39) |
C234S |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,389,536 (GRCm39) |
L1963P |
probably benign |
Het |
| Lypd3 |
C |
A |
7: 24,337,932 (GRCm39) |
H99Q |
probably damaging |
Het |
| Mdn1 |
C |
A |
4: 32,751,390 (GRCm39) |
H4593Q |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,297,126 (GRCm39) |
S325G |
probably benign |
Het |
| Muc5ac |
G |
A |
7: 141,372,609 (GRCm39) |
G3452R |
probably damaging |
Het |
| Myrfl |
A |
T |
10: 116,612,696 (GRCm39) |
D884E |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,274,370 (GRCm39) |
H260Q |
probably damaging |
Het |
| Ngef |
A |
G |
1: 87,408,883 (GRCm39) |
L519P |
probably damaging |
Het |
| Or5ac20 |
A |
G |
16: 59,104,194 (GRCm39) |
L222P |
probably damaging |
Het |
| Or5b102 |
T |
A |
19: 13,041,307 (GRCm39) |
C177* |
probably null |
Het |
| Or5w1b |
A |
T |
2: 87,475,960 (GRCm39) |
F169Y |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,854,260 (GRCm39) |
K184R |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp6r1 |
A |
T |
7: 4,644,289 (GRCm39) |
V379E |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,842,286 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,100,442 (GRCm39) |
E1982G |
probably damaging |
Het |
| Rad21l |
T |
C |
2: 151,509,838 (GRCm39) |
T88A |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 91,979,212 (GRCm39) |
|
probably benign |
Het |
| Sec62 |
T |
C |
3: 30,864,177 (GRCm39) |
|
probably null |
Het |
| Slc22a19 |
C |
T |
19: 7,670,086 (GRCm39) |
R256Q |
possibly damaging |
Het |
| Slc43a2 |
G |
T |
11: 75,434,192 (GRCm39) |
|
probably null |
Het |
| Smarcd3 |
T |
C |
5: 24,803,792 (GRCm39) |
M30V |
probably benign |
Het |
| Tes3-ps |
T |
A |
13: 49,647,356 (GRCm39) |
D77E |
probably benign |
Het |
| Thbs3 |
G |
A |
3: 89,131,937 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,768,128 (GRCm39) |
N790K |
probably benign |
Het |
| Ttc13 |
A |
T |
8: 125,405,816 (GRCm39) |
N492K |
possibly damaging |
Het |
| Ttc39c |
T |
C |
18: 12,828,545 (GRCm39) |
L235P |
probably damaging |
Het |
| Tyms |
T |
C |
5: 30,278,360 (GRCm39) |
|
probably benign |
Het |
| Whamm |
A |
T |
7: 81,234,933 (GRCm39) |
K333* |
probably null |
Het |
| Ydjc |
A |
G |
16: 16,968,732 (GRCm39) |
I224V |
probably benign |
Het |
| Zc3hav1 |
C |
T |
6: 38,313,416 (GRCm39) |
D210N |
possibly damaging |
Het |
| Zfp735 |
G |
A |
11: 73,581,127 (GRCm39) |
E55K |
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 |
|
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 |
|
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'- GTCCCTGTATAGTCTTTATCAGTGC -3'
(R):5'- CTAAAGCAGTTTGGTAGCTGGG -3'
Sequencing Primer
(F):5'- GTGCCTGATGATTTTGAGTAGAAAC -3'
(R):5'- CTGGGAGCAATGTTAGATCTATAAAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation