Incidental Mutation 'R6063:Bbx'
ID |
483943 |
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 # |
R6063 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
50012207-50252753 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50071730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 232
(I232V)
|
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
|
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
AA Change: I232V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000086821 Gene: ENSMUSG00000022641 AA Change: I232V
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: I232V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000086826 Gene: ENSMUSG00000022641 AA Change: I232V
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: I232V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110132 Gene: ENSMUSG00000022641 AA Change: I232V
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: I232V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119238 Gene: ENSMUSG00000022641 AA Change: I232V
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
G |
A |
17: 24,483,318 (GRCm39) |
R1713C |
unknown |
Het |
Ano6 |
C |
T |
15: 95,846,298 (GRCm39) |
T512I |
probably damaging |
Het |
Ap3s1 |
T |
C |
18: 46,887,505 (GRCm39) |
V46A |
probably benign |
Het |
Art2a |
C |
A |
7: 101,204,413 (GRCm39) |
V42F |
probably damaging |
Het |
Asph |
C |
T |
4: 9,531,960 (GRCm39) |
V386M |
probably benign |
Het |
B4galnt4 |
T |
A |
7: 140,644,643 (GRCm39) |
D179E |
probably benign |
Het |
C1ql2 |
A |
G |
1: 120,269,321 (GRCm39) |
I159V |
probably benign |
Het |
Ccar1 |
A |
G |
10: 62,612,496 (GRCm39) |
V223A |
possibly damaging |
Het |
Cd2ap |
A |
T |
17: 43,136,802 (GRCm39) |
L277I |
probably benign |
Het |
Cfap44 |
G |
A |
16: 44,250,255 (GRCm39) |
E778K |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,240,063 (GRCm39) |
D1626E |
probably benign |
Het |
Crocc |
C |
T |
4: 140,769,032 (GRCm39) |
G505S |
probably benign |
Het |
Crocc |
T |
A |
4: 140,773,851 (GRCm39) |
Q72L |
probably damaging |
Het |
Drosha |
T |
C |
15: 12,834,156 (GRCm39) |
|
probably benign |
Het |
Eps8l1 |
T |
A |
7: 4,474,296 (GRCm39) |
S256T |
possibly damaging |
Het |
F830045P16Rik |
A |
G |
2: 129,316,310 (GRCm39) |
V133A |
probably damaging |
Het |
Fermt2 |
A |
T |
14: 45,697,338 (GRCm39) |
M671K |
possibly damaging |
Het |
Fhdc1 |
G |
A |
3: 84,353,336 (GRCm39) |
L630F |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,807,306 (GRCm39) |
S1667P |
probably damaging |
Het |
Greb1l |
A |
C |
18: 10,557,340 (GRCm39) |
K1780T |
probably damaging |
Het |
H2-Q10 |
C |
T |
17: 35,781,026 (GRCm39) |
T8M |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,324,725 (GRCm39) |
T4215S |
probably benign |
Het |
I0C0044D17Rik |
G |
A |
4: 98,708,576 (GRCm39) |
|
probably benign |
Het |
Ifi204 |
A |
G |
1: 173,579,223 (GRCm39) |
F541L |
probably benign |
Het |
Igkv6-17 |
C |
T |
6: 70,348,764 (GRCm39) |
A45V |
probably damaging |
Het |
Intu |
G |
A |
3: 40,608,524 (GRCm39) |
A161T |
probably damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,233,141 (GRCm39) |
Y73C |
probably damaging |
Het |
Lrit1 |
T |
C |
14: 36,776,945 (GRCm39) |
F22L |
probably benign |
Het |
Lrp1b |
A |
T |
2: 41,174,156 (GRCm39) |
C699* |
probably null |
Het |
Lrrc8d |
A |
G |
5: 105,959,992 (GRCm39) |
D134G |
probably benign |
Het |
Map1b |
T |
C |
13: 99,567,645 (GRCm39) |
D1692G |
unknown |
Het |
Met |
C |
T |
6: 17,491,967 (GRCm39) |
S243F |
probably damaging |
Het |
Mlph |
C |
A |
1: 90,855,882 (GRCm39) |
H96Q |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,372,582 (GRCm39) |
V4088D |
probably damaging |
Het |
Nampt |
T |
A |
12: 32,898,658 (GRCm39) |
S425T |
probably damaging |
Het |
Nts |
G |
A |
10: 102,320,856 (GRCm39) |
H78Y |
probably benign |
Het |
Nxf1 |
A |
G |
19: 8,745,151 (GRCm39) |
E467G |
possibly damaging |
Het |
Olfml2a |
C |
A |
2: 38,841,155 (GRCm39) |
D230E |
probably benign |
Het |
Or4b13 |
C |
A |
2: 90,082,771 (GRCm39) |
C187F |
probably benign |
Het |
Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
Pcsk5 |
A |
G |
19: 17,432,045 (GRCm39) |
|
probably null |
Het |
Pde5a |
C |
A |
3: 122,618,574 (GRCm39) |
T629K |
probably benign |
Het |
Plcb3 |
G |
T |
19: 6,940,202 (GRCm39) |
R462S |
possibly damaging |
Het |
Pnpla6 |
T |
A |
8: 3,574,156 (GRCm39) |
M469K |
probably benign |
Het |
Pram1 |
A |
T |
17: 33,860,386 (GRCm39) |
K318* |
probably null |
Het |
Prkd1 |
T |
C |
12: 50,388,826 (GRCm39) |
R906G |
probably benign |
Het |
Ptprh |
T |
A |
7: 4,576,361 (GRCm39) |
T300S |
possibly damaging |
Het |
Rdh16f2 |
A |
G |
10: 127,712,743 (GRCm39) |
Y247C |
probably benign |
Het |
Rimbp3 |
A |
G |
16: 17,028,781 (GRCm39) |
E735G |
probably damaging |
Het |
Sall3 |
G |
A |
18: 81,017,470 (GRCm39) |
P153S |
possibly damaging |
Het |
Samd4b |
T |
A |
7: 28,123,056 (GRCm39) |
M1L |
possibly damaging |
Het |
Septin12 |
T |
C |
16: 4,810,127 (GRCm39) |
E136G |
probably damaging |
Het |
Shpk |
A |
T |
11: 73,104,270 (GRCm39) |
K140* |
probably null |
Het |
Sidt1 |
G |
T |
16: 44,079,829 (GRCm39) |
F608L |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,347,842 (GRCm39) |
Y1300H |
probably benign |
Het |
Slc22a28 |
G |
A |
19: 8,094,386 (GRCm39) |
P212S |
probably benign |
Het |
Slc22a5 |
A |
T |
11: 53,758,359 (GRCm39) |
F480L |
possibly damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc3a1 |
C |
T |
17: 85,335,951 (GRCm39) |
P31L |
probably benign |
Het |
Slc4a7 |
T |
C |
14: 14,793,964 (GRCm38) |
V1074A |
possibly damaging |
Het |
Snx2 |
C |
T |
18: 53,342,697 (GRCm39) |
Q254* |
probably null |
Het |
Sox30 |
G |
A |
11: 45,882,769 (GRCm39) |
V600I |
probably benign |
Het |
Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
Tdpoz9 |
A |
G |
3: 93,957,408 (GRCm39) |
F7L |
probably benign |
Het |
Tdrd7 |
A |
G |
4: 46,005,486 (GRCm39) |
T431A |
probably benign |
Het |
Tenm2 |
A |
T |
11: 36,054,544 (GRCm39) |
|
probably null |
Het |
Tigar |
A |
G |
6: 127,068,164 (GRCm39) |
S85P |
probably benign |
Het |
Tnr |
A |
C |
1: 159,740,254 (GRCm39) |
M1143L |
probably benign |
Het |
Trio |
G |
T |
15: 27,891,465 (GRCm39) |
Q429K |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,585,985 (GRCm39) |
I452M |
probably benign |
Het |
Uroc1 |
A |
T |
6: 90,324,910 (GRCm39) |
E461V |
probably benign |
Het |
Vax1 |
C |
A |
19: 59,157,036 (GRCm39) |
R99L |
unknown |
Het |
Xab2 |
A |
T |
8: 3,663,051 (GRCm39) |
I510N |
possibly damaging |
Het |
Zbtb34 |
A |
T |
2: 33,301,842 (GRCm39) |
I233K |
possibly damaging |
Het |
Zbtb47 |
A |
G |
9: 121,592,598 (GRCm39) |
E306G |
probably benign |
Het |
Zfp27 |
A |
G |
7: 29,593,727 (GRCm39) |
F746S |
probably damaging |
Het |
Zfp719 |
C |
T |
7: 43,239,050 (GRCm39) |
Q213* |
probably null |
Het |
Zswim6 |
T |
C |
13: 107,865,112 (GRCm39) |
|
noncoding transcript |
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 |
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'- GGAGACCCATATCTCTTAATCTTTCAC -3'
(R):5'- GTTTCCCAAATTGCACCGTC -3'
|
Posted On |
2017-07-14 |