Incidental Mutation 'BB009:Bbx'
| ID |
642552 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
BB009
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
50012207-50252753 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 50030806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066037]
[ENSMUST00000089399]
[ENSMUST00000089404]
[ENSMUST00000114488]
[ENSMUST00000138166]
|
| AlphaFold |
Q8VBW5 |
| PDB Structure |
Solution Structure of the HMG_box Domain of Murine Bobby Sox Homolog [SOLUTION NMR]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000066037
|
| SMART Domains |
Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
| 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
|
| SMART Domains |
Protein: ENSMUSP00000086821
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 |
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
|
| SMART Domains |
Protein: ENSMUSP00000086826
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 |
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 benign
Transcript: ENSMUST00000114488
|
| SMART Domains |
Protein: ENSMUSP00000110132
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 |
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 benign
Transcript: ENSMUST00000138166
|
| SMART Domains |
Protein: ENSMUSP00000119238
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 |
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: 99.7%
- 20x: 98.9%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,415,100 (GRCm39) |
R666G |
unknown |
Het |
| Adam21 |
T |
A |
12: 81,606,938 (GRCm39) |
N275Y |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 102,993,835 (GRCm39) |
|
probably benign |
Het |
| Arhgef1 |
C |
T |
7: 24,619,135 (GRCm39) |
L459F |
probably damaging |
Het |
| Blk |
C |
T |
14: 63,611,008 (GRCm39) |
G445S |
possibly damaging |
Het |
| Brca1 |
T |
C |
11: 101,430,843 (GRCm39) |
E33G |
possibly damaging |
Het |
| Cacna1s |
T |
G |
1: 136,012,097 (GRCm39) |
L513R |
probably damaging |
Het |
| Cnn3 |
T |
A |
3: 121,245,078 (GRCm39) |
M98K |
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,427,532 (GRCm39) |
L716F |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,823,233 (GRCm39) |
R73W |
probably damaging |
Het |
| Dnajc4 |
A |
G |
19: 6,965,638 (GRCm39) |
L182P |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,217,998 (GRCm39) |
M1191V |
probably benign |
Het |
| Fam13a |
C |
T |
6: 58,960,873 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
C |
T |
18: 58,153,555 (GRCm39) |
G2569E |
possibly damaging |
Het |
| Fes |
T |
C |
7: 80,029,620 (GRCm39) |
I623V |
probably damaging |
Het |
| Fyco1 |
A |
C |
9: 123,658,055 (GRCm39) |
L707R |
possibly damaging |
Het |
| Gadd45b |
T |
A |
10: 80,766,169 (GRCm39) |
V7E |
possibly damaging |
Het |
| Gm19410 |
T |
A |
8: 36,262,753 (GRCm39) |
C897S |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,151,299 (GRCm39) |
L31P |
probably damaging |
Het |
| Hoxa4 |
T |
G |
6: 52,167,397 (GRCm39) |
K261N |
probably damaging |
Het |
| Hrh4 |
T |
A |
18: 13,148,869 (GRCm39) |
L77* |
probably null |
Het |
| Igf1r |
A |
T |
7: 67,861,802 (GRCm39) |
I1121F |
possibly damaging |
Het |
| Igkv16-104 |
A |
T |
6: 68,402,778 (GRCm39) |
I24L |
probably benign |
Het |
| Itk |
A |
T |
11: 46,231,519 (GRCm39) |
W346R |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,369,184 (GRCm39) |
S1144P |
probably damaging |
Het |
| Krt86 |
A |
T |
15: 101,374,473 (GRCm39) |
S289C |
probably damaging |
Het |
| Lonrf1 |
T |
C |
8: 36,690,070 (GRCm39) |
I663V |
probably benign |
Het |
| Lrp2 |
T |
G |
2: 69,256,371 (GRCm39) |
I4590L |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,960,891 (GRCm39) |
R434C |
probably damaging |
Het |
| Maneal |
T |
C |
4: 124,755,638 (GRCm39) |
Y108C |
probably damaging |
Het |
| Muc21 |
TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT |
TCCTGAGGCAGTGCTGGAT |
17: 35,933,525 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,185,430 (GRCm39) |
V894I |
probably benign |
Het |
| Ncam2 |
T |
G |
16: 81,412,708 (GRCm39) |
L732R |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,901,997 (GRCm39) |
D156E |
probably damaging |
Het |
| Or10z1 |
T |
C |
1: 174,078,260 (GRCm39) |
I78V |
probably benign |
Het |
| Or1e23 |
A |
C |
11: 73,407,983 (GRCm39) |
L14R |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,146 (GRCm39) |
I33L |
probably benign |
Het |
| Or5b106 |
A |
T |
19: 13,123,345 (GRCm39) |
M226K |
probably benign |
Het |
| Or5v1b |
T |
C |
17: 37,841,075 (GRCm39) |
I69T |
probably benign |
Het |
| Or6c66 |
C |
A |
10: 129,461,094 (GRCm39) |
V279F |
probably damaging |
Het |
| P2rx7 |
G |
A |
5: 122,782,245 (GRCm39) |
V37I |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,481,359 (GRCm39) |
R235G |
probably benign |
Het |
| Pcdhga1 |
T |
C |
18: 37,796,513 (GRCm39) |
S506P |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,845,435 (GRCm39) |
|
probably null |
Het |
| Plch1 |
A |
G |
3: 63,609,402 (GRCm39) |
V935A |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Prpf8 |
A |
G |
11: 75,383,423 (GRCm39) |
D607G |
possibly damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,114,496 (GRCm39) |
W215R |
probably damaging |
Het |
| Ptpn9 |
C |
A |
9: 56,943,900 (GRCm39) |
P258Q |
possibly damaging |
Het |
| Rfpl4b |
A |
G |
10: 38,697,346 (GRCm39) |
V85A |
possibly damaging |
Het |
| Sacs |
C |
A |
14: 61,442,327 (GRCm39) |
Q1458K |
probably damaging |
Het |
| Scfd2 |
A |
T |
5: 74,692,211 (GRCm39) |
S24T |
probably benign |
Het |
| Siae |
A |
G |
9: 37,544,980 (GRCm39) |
D325G |
probably benign |
Het |
| Slc22a23 |
C |
A |
13: 34,366,960 (GRCm39) |
A683S |
probably damaging |
Het |
| Slc44a3 |
A |
T |
3: 121,306,009 (GRCm39) |
I244N |
possibly damaging |
Het |
| Srrm2 |
T |
A |
17: 24,037,501 (GRCm39) |
S1382T |
probably benign |
Het |
| Tfap2c |
A |
G |
2: 172,393,706 (GRCm39) |
Y207C |
probably damaging |
Het |
| Timd5 |
C |
A |
11: 46,426,366 (GRCm39) |
P158T |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,926,857 (GRCm39) |
I890V |
probably benign |
Het |
| Trim30a |
A |
T |
7: 104,078,545 (GRCm39) |
I177N |
probably benign |
Het |
| Tshz2 |
T |
A |
2: 169,728,251 (GRCm39) |
M949K |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,555,530 (GRCm39) |
T30492P |
probably damaging |
Het |
| Ubb |
C |
T |
11: 62,443,611 (GRCm39) |
Q214* |
probably null |
Het |
| Ulk2 |
A |
G |
11: 61,698,916 (GRCm39) |
S423P |
probably benign |
Het |
| Vmn1r237 |
C |
A |
17: 21,534,725 (GRCm39) |
D149E |
probably benign |
Het |
| Zbtb24 |
A |
G |
10: 41,327,504 (GRCm39) |
D130G |
probably benign |
Het |
| Zfp689 |
C |
A |
7: 127,043,523 (GRCm39) |
G369V |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 126,649,577 (GRCm39) |
F128S |
probably damaging |
Het |
| Zmym1 |
T |
G |
4: 126,944,578 (GRCm39) |
N203T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATTCATATGGAGCTGCG -3'
(R):5'- CTGCAAGAGAACACTTCTTGC -3'
Sequencing Primer
(F):5'- TTCATATGGAGCTGCGATCAAAG -3'
(R):5'- GAGAACACTTCTTGCAACTCAG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation