Incidental Mutation 'IGL02073:Bbx'
| ID |
185888 |
| 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)
|
| Stock # |
IGL02073
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
50012207-50252753 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 50022854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 702
(T702I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066037]
[ENSMUST00000089404]
[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: T702I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: T702I
| 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: ENSMUST00000089404
AA Change: T760I
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: T760I
| 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 |
possibly damaging
Transcript: ENSMUST00000114488
AA Change: T780I
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: T780I
| 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 |
possibly damaging
Transcript: ENSMUST00000138166
AA Change: T780I
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: T780I
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930566N20Rik |
C |
A |
3: 156,914,039 (GRCm39) |
|
probably benign |
Het |
| 6330409D20Rik |
T |
G |
2: 32,630,698 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,723,407 (GRCm39) |
K659E |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,448,263 (GRCm39) |
D405G |
probably damaging |
Het |
| Brpf3 |
A |
G |
17: 29,026,370 (GRCm39) |
Y481C |
probably benign |
Het |
| Csnk1g1 |
T |
A |
9: 65,909,533 (GRCm39) |
Y217N |
probably damaging |
Het |
| Cyp4f37 |
G |
T |
17: 32,846,825 (GRCm39) |
V171L |
possibly damaging |
Het |
| Dock8 |
G |
A |
19: 25,178,350 (GRCm39) |
|
probably null |
Het |
| Extl3 |
C |
A |
14: 65,313,788 (GRCm39) |
G465W |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,046,349 (GRCm39) |
I587T |
possibly damaging |
Het |
| Fstl5 |
A |
C |
3: 76,566,959 (GRCm39) |
|
probably benign |
Het |
| Gabbr2 |
T |
C |
4: 46,667,547 (GRCm39) |
N866S |
probably benign |
Het |
| Gm4871 |
T |
A |
5: 144,969,388 (GRCm39) |
K44* |
probably null |
Het |
| Hnrnpul1 |
T |
C |
7: 25,421,766 (GRCm39) |
|
probably benign |
Het |
| Jup |
A |
G |
11: 100,274,215 (GRCm39) |
|
probably benign |
Het |
| Mccc2 |
A |
T |
13: 100,136,783 (GRCm39) |
H57Q |
probably benign |
Het |
| Myo1a |
A |
T |
10: 127,546,094 (GRCm39) |
D239V |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,974,612 (GRCm39) |
S695T |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,249,743 (GRCm39) |
S1052T |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,169 (GRCm39) |
I301T |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,899,621 (GRCm39) |
N112K |
possibly damaging |
Het |
| Or8c10 |
C |
T |
9: 38,279,603 (GRCm39) |
H244Y |
probably damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,729,414 (GRCm39) |
I526K |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,621,102 (GRCm39) |
D974G |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,001 (GRCm39) |
E407G |
probably damaging |
Het |
| Polk |
A |
G |
13: 96,641,059 (GRCm39) |
V166A |
probably damaging |
Het |
| Prkar2a |
A |
G |
9: 108,610,322 (GRCm39) |
I184V |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 30,333,362 (GRCm39) |
S64P |
probably damaging |
Het |
| Rbsn |
A |
G |
6: 92,166,340 (GRCm39) |
L768P |
probably damaging |
Het |
| Ripk3 |
C |
T |
14: 56,023,482 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sar1b |
T |
C |
11: 51,680,020 (GRCm39) |
|
probably benign |
Het |
| Slx |
A |
T |
X: 26,489,755 (GRCm39) |
W89R |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Svep1 |
T |
C |
4: 58,070,104 (GRCm39) |
I2561V |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,624,721 (GRCm39) |
D1743G |
probably benign |
Het |
| Tm7sf3 |
A |
G |
6: 146,525,208 (GRCm39) |
L79P |
possibly damaging |
Het |
| Trub1 |
A |
T |
19: 57,441,379 (GRCm39) |
M1L |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,651,386 (GRCm39) |
D1577G |
possibly damaging |
Het |
| Vat1 |
A |
T |
11: 101,351,405 (GRCm39) |
M312K |
possibly damaging |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,787 (GRCm39) |
I193V |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,875,732 (GRCm39) |
I2706V |
possibly damaging |
Het |
| Wls |
T |
C |
3: 159,612,890 (GRCm39) |
|
probably null |
Het |
| Zfp955b |
A |
G |
17: 33,519,564 (GRCm39) |
T11A |
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 |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation