Incidental Mutation 'R0374:Bbx'
ID |
38539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bbx
|
Ensembl Gene |
ENSMUSG00000022641 |
Gene Name |
bobby sox HMG box containing |
Synonyms |
5730403O13Rik, 5530401J07Rik |
MMRRC Submission |
038580-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0374 (G1)
|
Quality Score |
214 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
50012207-50252753 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 50100755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 47
(E47K)
|
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
AA Change: E47K
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000066384 Gene: ENSMUSG00000022641 AA Change: E47K
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: E47K
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000086821 Gene: ENSMUSG00000022641 AA Change: E47K
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: E47K
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000086826 Gene: ENSMUSG00000022641 AA Change: E47K
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: E47K
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000110132 Gene: ENSMUSG00000022641 AA Change: E47K
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: E47K
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000119238 Gene: ENSMUSG00000022641 AA Change: E47K
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
99% (69/70) |
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 |
Ano9 |
A |
G |
7: 140,687,727 (GRCm39) |
I267T |
probably damaging |
Het |
Anxa6 |
T |
A |
11: 54,896,654 (GRCm39) |
N168I |
probably benign |
Het |
Apbb1ip |
A |
G |
2: 22,709,717 (GRCm39) |
|
probably benign |
Het |
Aqr |
G |
A |
2: 113,961,092 (GRCm39) |
H723Y |
probably damaging |
Het |
Car13 |
A |
G |
3: 14,721,357 (GRCm39) |
|
probably benign |
Het |
Casp9 |
T |
A |
4: 141,534,484 (GRCm39) |
I298N |
possibly damaging |
Het |
Ccdc66 |
T |
C |
14: 27,220,430 (GRCm39) |
E261G |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,951,954 (GRCm39) |
Y376* |
probably null |
Het |
Cped1 |
T |
A |
6: 22,222,545 (GRCm39) |
|
probably benign |
Het |
Ctbp2 |
A |
T |
7: 132,601,073 (GRCm39) |
S563R |
possibly damaging |
Het |
Ctdp1 |
A |
G |
18: 80,490,637 (GRCm39) |
|
probably null |
Het |
Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
Drd2 |
A |
G |
9: 49,311,084 (GRCm39) |
T112A |
probably benign |
Het |
Dusp1 |
A |
G |
17: 26,727,143 (GRCm39) |
V52A |
probably damaging |
Het |
Eea1 |
T |
A |
10: 95,875,634 (GRCm39) |
|
probably benign |
Het |
Etfrf1 |
T |
C |
6: 145,161,288 (GRCm39) |
V86A |
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,163,596 (GRCm39) |
C2087S |
possibly damaging |
Het |
Fosb |
T |
G |
7: 19,041,075 (GRCm39) |
R139S |
probably damaging |
Het |
Foxm1 |
C |
T |
6: 128,349,566 (GRCm39) |
R362W |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,561,381 (GRCm39) |
V1042A |
probably damaging |
Het |
Gbe1 |
A |
G |
16: 70,280,802 (GRCm39) |
H401R |
probably benign |
Het |
Gm10549 |
C |
T |
18: 33,597,235 (GRCm39) |
|
probably benign |
Het |
Golga7b |
A |
T |
19: 42,251,758 (GRCm39) |
|
probably benign |
Het |
H2-DMb1 |
T |
C |
17: 34,378,399 (GRCm39) |
V235A |
probably benign |
Het |
Hr |
A |
G |
14: 70,793,916 (GRCm39) |
T59A |
probably benign |
Het |
Itpr2 |
C |
A |
6: 146,260,890 (GRCm39) |
A588S |
probably benign |
Het |
Kmt2c |
G |
A |
5: 25,514,706 (GRCm39) |
P3046S |
probably damaging |
Het |
Lamc1 |
G |
A |
1: 153,126,811 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,260,651 (GRCm39) |
Y4527H |
probably damaging |
Het |
Map3k2 |
G |
A |
18: 32,345,226 (GRCm39) |
|
probably null |
Het |
Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
Nfs1 |
C |
G |
2: 155,974,580 (GRCm39) |
G212R |
probably damaging |
Het |
Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
Nrap |
T |
A |
19: 56,340,054 (GRCm39) |
Y740F |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,185,772 (GRCm39) |
M859K |
probably damaging |
Het |
Nxf1 |
T |
C |
19: 8,745,103 (GRCm39) |
F451S |
possibly damaging |
Het |
Or5an1c |
A |
T |
19: 12,218,505 (GRCm39) |
N173K |
probably damaging |
Het |
Or6c6c |
G |
A |
10: 129,541,516 (GRCm39) |
M256I |
probably benign |
Het |
Pcdhac2 |
T |
C |
18: 37,278,720 (GRCm39) |
Y567H |
probably damaging |
Het |
Phlpp2 |
C |
T |
8: 110,634,145 (GRCm39) |
R242W |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,100,796 (GRCm39) |
|
probably benign |
Het |
Pmpcb |
A |
G |
5: 21,953,829 (GRCm39) |
D359G |
probably damaging |
Het |
Poll |
T |
G |
19: 45,546,309 (GRCm39) |
S244R |
probably benign |
Het |
Prkd3 |
T |
C |
17: 79,264,644 (GRCm39) |
D657G |
probably null |
Het |
Prune2 |
G |
A |
19: 17,098,274 (GRCm39) |
M1259I |
probably benign |
Het |
Ptpra |
T |
A |
2: 130,379,541 (GRCm39) |
M329K |
probably damaging |
Het |
Rbm10 |
GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG |
GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG |
X: 20,503,798 (GRCm39) |
|
probably benign |
Het |
Rbm15 |
G |
T |
3: 107,237,880 (GRCm39) |
D839E |
probably damaging |
Het |
Sap30bp |
T |
A |
11: 115,855,103 (GRCm39) |
I271N |
probably damaging |
Het |
Scart2 |
T |
A |
7: 139,828,874 (GRCm39) |
C178S |
probably damaging |
Het |
Scn3a |
A |
T |
2: 65,338,918 (GRCm39) |
V587E |
probably damaging |
Het |
Setdb1 |
A |
T |
3: 95,232,164 (GRCm39) |
|
probably benign |
Het |
Sgk3 |
T |
A |
1: 9,949,306 (GRCm39) |
|
probably null |
Het |
Shox2 |
A |
T |
3: 66,881,184 (GRCm39) |
H265Q |
probably damaging |
Het |
Slc9a2 |
T |
C |
1: 40,783,017 (GRCm39) |
F427S |
possibly damaging |
Het |
Smarca5 |
T |
A |
8: 81,463,360 (GRCm39) |
Q69H |
probably benign |
Het |
Specc1l |
T |
A |
10: 75,084,293 (GRCm39) |
F672Y |
probably damaging |
Het |
Ssh2 |
T |
A |
11: 77,298,969 (GRCm39) |
S105R |
probably damaging |
Het |
Syne2 |
C |
T |
12: 75,968,000 (GRCm39) |
R917* |
probably null |
Het |
Tbc1d2 |
G |
A |
4: 46,649,913 (GRCm39) |
T41M |
possibly damaging |
Het |
Tbx18 |
T |
A |
9: 87,606,408 (GRCm39) |
I246F |
probably damaging |
Het |
Tcf4 |
T |
A |
18: 69,814,883 (GRCm39) |
|
probably benign |
Het |
Tmed2 |
C |
A |
5: 124,679,502 (GRCm39) |
|
probably null |
Het |
Tmem243 |
A |
T |
5: 9,151,361 (GRCm39) |
D15V |
possibly damaging |
Het |
Vmn2r87 |
T |
A |
10: 130,307,848 (GRCm39) |
S797C |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,793,528 (GRCm39) |
|
probably benign |
Het |
Wls |
T |
A |
3: 159,603,074 (GRCm39) |
C162* |
probably null |
Het |
Zbtb7c |
C |
T |
18: 76,270,464 (GRCm39) |
T184I |
probably benign |
Het |
Zc3h13 |
A |
G |
14: 75,546,405 (GRCm39) |
K169E |
probably 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 |
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'- GCTAGAGACGGATTCCTTGTGCTC -3'
(R):5'- AACCAGGTGACAGCCTGAATAAGC -3'
Sequencing Primer
(F):5'- AGACGGATTCCTTGTGCTCTAAAC -3'
(R):5'- GGGAACGTAACTGGTAATCCTC -3'
|
Posted On |
2013-05-23 |