Incidental Mutation 'IGL02302:Bbx'
| ID |
287423 |
| 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 # |
IGL02302
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
50012207-50252753 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50045278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 320
(C320S)
|
| 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: C320S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: C320S
| 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: C428S
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000086821
Gene: ENSMUSG00000022641
AA Change: C428S
| 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: C428S
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: C428S
| 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: C428S
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: C428S
| 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: C428S
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: C428S
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
A |
T |
1: 57,422,257 (GRCm39) |
Q211L |
possibly damaging |
Het |
| Abca14 |
T |
A |
7: 119,917,968 (GRCm39) |
|
probably benign |
Het |
| Abcb10 |
A |
T |
8: 124,685,411 (GRCm39) |
V543D |
possibly damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,431,057 (GRCm39) |
T909I |
probably benign |
Het |
| Arhgef3 |
A |
G |
14: 27,084,799 (GRCm39) |
N76S |
probably benign |
Het |
| Castor2 |
G |
A |
5: 134,164,482 (GRCm39) |
V148I |
possibly damaging |
Het |
| Cdh23 |
C |
A |
10: 60,159,302 (GRCm39) |
V2159F |
possibly damaging |
Het |
| Cmtr2 |
G |
A |
8: 110,948,136 (GRCm39) |
A149T |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,512,535 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,709,482 (GRCm39) |
F1905I |
unknown |
Het |
| Ddx60 |
A |
G |
8: 62,428,866 (GRCm39) |
Y792C |
possibly damaging |
Het |
| Dennd2b |
A |
G |
7: 109,124,538 (GRCm39) |
V1101A |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,775,776 (GRCm39) |
L573P |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,607,005 (GRCm39) |
I2103V |
probably benign |
Het |
| Ear1 |
T |
G |
14: 44,056,504 (GRCm39) |
Q121H |
probably benign |
Het |
| Eprs1 |
T |
A |
1: 185,119,321 (GRCm39) |
|
probably benign |
Het |
| Ero1a |
T |
C |
14: 45,530,619 (GRCm39) |
K271R |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,348,236 (GRCm39) |
L884P |
probably damaging |
Het |
| F2r |
T |
C |
13: 95,741,160 (GRCm39) |
N125S |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,095,144 (GRCm39) |
E357G |
probably damaging |
Het |
| Gabbr1 |
C |
T |
17: 37,365,689 (GRCm39) |
R123W |
probably damaging |
Het |
| Gimap4 |
T |
G |
6: 48,667,347 (GRCm39) |
V34G |
probably damaging |
Het |
| Gm3248 |
A |
T |
14: 5,943,011 (GRCm38) |
V180E |
probably benign |
Het |
| Hecw2 |
A |
T |
1: 53,972,407 (GRCm39) |
N204K |
probably damaging |
Het |
| Ighv1-84 |
T |
A |
12: 115,944,549 (GRCm39) |
K42* |
probably null |
Het |
| Kcnh7 |
T |
A |
2: 62,536,402 (GRCm39) |
Q1060L |
probably damaging |
Het |
| Kif3b |
T |
A |
2: 153,158,868 (GRCm39) |
I223N |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,088,039 (GRCm39) |
P913S |
probably benign |
Het |
| Lgr4 |
A |
G |
2: 109,832,841 (GRCm39) |
I334M |
probably damaging |
Het |
| Lrrc45 |
G |
T |
11: 120,609,351 (GRCm39) |
E403D |
possibly damaging |
Het |
| Mccc2 |
A |
G |
13: 100,090,747 (GRCm39) |
L462P |
probably damaging |
Het |
| Mfsd13b |
T |
C |
7: 120,598,132 (GRCm39) |
V346A |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,227,763 (GRCm39) |
T1342A |
possibly damaging |
Het |
| Mxd3 |
T |
C |
13: 55,477,091 (GRCm39) |
N56S |
probably benign |
Het |
| Niban2 |
A |
G |
2: 32,811,135 (GRCm39) |
I382V |
probably benign |
Het |
| Ntn5 |
G |
T |
7: 45,343,672 (GRCm39) |
R337L |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,105,962 (GRCm39) |
K894E |
probably benign |
Het |
| Or1j4 |
G |
T |
2: 36,740,715 (GRCm39) |
G219V |
probably benign |
Het |
| Or2a25 |
T |
A |
6: 42,889,272 (GRCm39) |
Y272N |
probably damaging |
Het |
| Or4f56 |
A |
C |
2: 111,703,887 (GRCm39) |
S104R |
possibly damaging |
Het |
| Or7e168 |
A |
T |
9: 19,719,981 (GRCm39) |
R122S |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,542,571 (GRCm39) |
D1772G |
probably benign |
Het |
| Pcdh18 |
G |
T |
3: 49,710,387 (GRCm39) |
F309L |
probably benign |
Het |
| Pcdhac2 |
G |
T |
18: 37,279,006 (GRCm39) |
R662L |
probably damaging |
Het |
| Ppp5c |
G |
A |
7: 16,742,555 (GRCm39) |
S261L |
possibly damaging |
Het |
| Qng1 |
G |
A |
13: 58,529,749 (GRCm39) |
R288W |
probably damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,765,675 (GRCm39) |
|
probably benign |
Het |
| Rfx8 |
A |
C |
1: 39,704,682 (GRCm39) |
S578A |
possibly damaging |
Het |
| Rhbdl3 |
T |
G |
11: 80,244,507 (GRCm39) |
*405E |
probably null |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rnf139 |
G |
T |
15: 58,770,606 (GRCm39) |
L210F |
probably damaging |
Het |
| Rragc |
A |
G |
4: 123,814,879 (GRCm39) |
R192G |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,794,701 (GRCm39) |
V137E |
probably damaging |
Het |
| S100pbp |
A |
T |
4: 129,076,234 (GRCm39) |
D30E |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,665,128 (GRCm39) |
|
probably benign |
Het |
| Sppl3 |
T |
A |
5: 115,220,390 (GRCm39) |
C101S |
probably benign |
Het |
| St8sia6 |
T |
C |
2: 13,728,324 (GRCm39) |
T74A |
probably benign |
Het |
| Sult3a1 |
A |
G |
10: 33,742,571 (GRCm39) |
N66S |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 74,773,947 (GRCm39) |
K508M |
probably damaging |
Het |
| Terf1 |
T |
C |
1: 15,903,626 (GRCm39) |
S275P |
probably damaging |
Het |
| Tmed8 |
G |
T |
12: 87,220,990 (GRCm39) |
H199N |
probably damaging |
Het |
| Tubg2 |
A |
T |
11: 101,046,971 (GRCm39) |
Q9L |
probably damaging |
Het |
| Ubxn4 |
C |
T |
1: 128,183,848 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
C |
T |
11: 23,417,243 (GRCm39) |
T2964I |
possibly damaging |
Het |
| Zfp213 |
A |
G |
17: 23,776,945 (GRCm39) |
S366P |
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 |
|
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 |
2015-04-16 |
Incidental Mutation