Incidental Mutation 'R9284:Bbx'
ID |
703840 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bbx
|
Ensembl Gene |
ENSMUSG00000022641 |
Gene Name |
bobby sox HMG box containing |
Synonyms |
5730403O13Rik, 5530401J07Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9284 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
50012207-50252753 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 50045023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 513
(S513P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066037]
[ENSMUST00000089399]
[ENSMUST00000089404]
[ENSMUST00000114477]
[ENSMUST00000114488]
[ENSMUST00000138166]
|
AlphaFold |
Q8VBW5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066037
AA Change: S405P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066384 Gene: ENSMUSG00000022641 AA Change: S405P
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: S513P
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000086821 Gene: ENSMUSG00000022641 AA Change: S513P
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: S513P
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000086826 Gene: ENSMUSG00000022641 AA Change: S513P
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: S513P
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000110132 Gene: ENSMUSG00000022641 AA Change: S513P
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: S513P
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000119238 Gene: ENSMUSG00000022641 AA Change: S513P
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 |
0.1025 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (63/63) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
T |
G |
4: 144,504,191 (GRCm39) |
Q320P |
probably damaging |
Het |
Adamtsl2 |
G |
A |
2: 26,994,055 (GRCm39) |
|
probably benign |
Het |
Adgrl3 |
T |
A |
5: 81,657,568 (GRCm39) |
|
probably benign |
Het |
Angptl3 |
A |
G |
4: 98,919,480 (GRCm39) |
Q80R |
probably benign |
Het |
Atmin |
G |
A |
8: 117,684,019 (GRCm39) |
V560M |
probably benign |
Het |
Cacng8 |
C |
A |
7: 3,459,746 (GRCm39) |
Y112* |
probably null |
Het |
Catsperg2 |
A |
G |
7: 29,405,006 (GRCm39) |
|
probably null |
Het |
Ccdc12 |
A |
C |
9: 110,540,203 (GRCm39) |
T131P |
probably damaging |
Het |
Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
Cep95 |
A |
T |
11: 106,704,624 (GRCm39) |
H493L |
probably benign |
Het |
Cntnap1 |
A |
G |
11: 101,068,137 (GRCm39) |
T50A |
probably benign |
Het |
Cyp3a16 |
T |
A |
5: 145,377,304 (GRCm39) |
I428F |
probably damaging |
Het |
Dnhd1 |
G |
T |
7: 105,301,091 (GRCm39) |
L149F |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,557,196 (GRCm39) |
V497E |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,404,308 (GRCm39) |
N55I |
|
Het |
Fbxw26 |
A |
T |
9: 109,550,962 (GRCm39) |
|
probably benign |
Het |
Gm4841 |
A |
G |
18: 60,403,895 (GRCm39) |
I66T |
probably damaging |
Het |
Gp5 |
G |
A |
16: 30,127,094 (GRCm39) |
L527F |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,883 (GRCm39) |
G22D |
probably benign |
Het |
Isg20l2 |
T |
A |
3: 87,838,991 (GRCm39) |
D67E |
probably benign |
Het |
Itgae |
G |
A |
11: 73,012,752 (GRCm39) |
V695I |
probably benign |
Het |
Itpr2 |
A |
T |
6: 146,256,174 (GRCm39) |
N1006K |
probably benign |
Het |
Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
Lama3 |
C |
T |
18: 12,583,541 (GRCm39) |
Q710* |
probably null |
Het |
Loxhd1 |
C |
T |
18: 77,501,826 (GRCm39) |
A1715V |
probably damaging |
Het |
Map3k20 |
C |
T |
2: 72,228,755 (GRCm39) |
Q325* |
probably null |
Het |
Med1 |
A |
T |
11: 98,046,366 (GRCm39) |
S1477T |
unknown |
Het |
Mr1 |
T |
A |
1: 155,013,274 (GRCm39) |
H101L |
probably benign |
Het |
Mtor |
T |
A |
4: 148,543,537 (GRCm39) |
S405T |
probably benign |
Het |
Nme9 |
G |
C |
9: 99,338,321 (GRCm39) |
|
probably null |
Het |
Nom1 |
T |
A |
5: 29,647,532 (GRCm39) |
I589N |
probably damaging |
Het |
Nr6a1 |
A |
T |
2: 38,638,890 (GRCm39) |
D148E |
probably damaging |
Het |
Nup160 |
T |
C |
2: 90,548,375 (GRCm39) |
V1006A |
possibly damaging |
Het |
Or2ag1b |
A |
T |
7: 106,288,416 (GRCm39) |
I174N |
possibly damaging |
Het |
Or2aj4 |
A |
G |
16: 19,385,357 (GRCm39) |
I92T |
probably damaging |
Het |
Or4d10b |
A |
T |
19: 12,036,273 (GRCm39) |
L281Q |
probably damaging |
Het |
Or5d37 |
T |
A |
2: 87,924,278 (GRCm39) |
M1L |
probably benign |
Het |
Or6c200-ps1 |
G |
A |
10: 128,869,821 (GRCm39) |
P297S |
probably damaging |
Het |
Phyhd1 |
G |
T |
2: 30,156,879 (GRCm39) |
G7* |
probably null |
Het |
Pla2g4e |
T |
C |
2: 120,004,730 (GRCm39) |
|
probably benign |
Het |
Ppfia3 |
A |
G |
7: 45,011,222 (GRCm39) |
C3R |
probably damaging |
Het |
Pramel1 |
T |
C |
4: 143,123,769 (GRCm39) |
V148A |
probably benign |
Het |
Ptpdc1 |
A |
T |
13: 48,740,167 (GRCm39) |
D421E |
probably benign |
Het |
Rapgef2 |
A |
T |
3: 79,000,010 (GRCm39) |
D579E |
probably damaging |
Het |
Rbpj |
T |
G |
5: 53,810,724 (GRCm39) |
V448G |
probably damaging |
Het |
Rif1 |
T |
C |
2: 51,998,564 (GRCm39) |
V1067A |
probably benign |
Het |
Scfd1 |
A |
T |
12: 51,439,024 (GRCm39) |
N162I |
probably benign |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Sp110 |
A |
T |
1: 85,507,363 (GRCm39) |
|
probably null |
Het |
Sparcl1 |
A |
T |
5: 104,236,345 (GRCm39) |
C469* |
probably null |
Het |
Srebf2 |
G |
A |
15: 82,066,357 (GRCm39) |
R635Q |
probably benign |
Het |
Stard7 |
T |
G |
2: 127,132,956 (GRCm39) |
S250A |
probably damaging |
Het |
Stxbp5l |
A |
C |
16: 37,028,442 (GRCm39) |
Y540* |
probably null |
Het |
Tlr5 |
T |
C |
1: 182,801,377 (GRCm39) |
V227A |
probably benign |
Het |
Tmem132b |
T |
C |
5: 125,864,711 (GRCm39) |
I939T |
possibly damaging |
Het |
Tnik |
G |
T |
3: 28,593,570 (GRCm39) |
S142I |
unknown |
Het |
Trim6 |
A |
G |
7: 103,882,116 (GRCm39) |
T482A |
probably damaging |
Het |
Tssk5 |
A |
G |
15: 76,257,168 (GRCm39) |
I238T |
probably benign |
Het |
Ugt2b35 |
A |
G |
5: 87,156,140 (GRCm39) |
T411A |
probably benign |
Het |
Zc2hc1b |
C |
A |
10: 13,043,562 (GRCm39) |
R111L |
probably benign |
Het |
Zfp266 |
A |
T |
9: 20,411,300 (GRCm39) |
C292* |
probably null |
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 |
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 |
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'- ACAATCACTATCCTCAGGCTTAGC -3'
(R):5'- ACTGGATCGACACGGAAATG -3'
Sequencing Primer
(F):5'- TAGGTGGCAGTGCATCCTC -3'
(R):5'- CTGGATCGACACGGAAATGACAAATC -3'
|
Posted On |
2022-03-25 |