Incidental Mutation 'R6618:Bbx'
| ID |
524241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbx
|
| Ensembl Gene |
ENSMUSG00000022641 |
| Gene Name |
bobby sox HMG box containing |
| Synonyms |
5730403O13Rik, 5530401J07Rik |
| MMRRC Submission |
044741-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6618 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
50012207-50252753 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 50086626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Serine
at position 90
(W90S)
|
| 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: W90S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: W90S
| 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: W171S
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000086821
Gene: ENSMUSG00000022641
AA Change: W171S
| 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: W171S
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: W171S
| 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: W171S
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: W171S
| 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: W171S
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: W171S
| 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: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1b2 |
T |
C |
11: 69,494,289 (GRCm39) |
D68G |
probably damaging |
Het |
| Barx2 |
G |
A |
9: 31,758,168 (GRCm39) |
L257F |
probably benign |
Het |
| Bmp1 |
T |
A |
14: 70,728,808 (GRCm39) |
D588V |
probably damaging |
Het |
| Caskin2 |
C |
T |
11: 115,690,855 (GRCm39) |
M1188I |
possibly damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,950,708 (GRCm39) |
I1651N |
probably damaging |
Het |
| Cimip2a |
C |
A |
2: 25,110,635 (GRCm39) |
L148M |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,839,687 (GRCm39) |
D580G |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,209,069 (GRCm39) |
|
probably null |
Het |
| Fam83h |
T |
C |
15: 75,875,360 (GRCm39) |
D659G |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,126 (GRCm39) |
T477A |
probably damaging |
Het |
| Hells |
G |
T |
19: 38,945,528 (GRCm39) |
R589L |
probably benign |
Het |
| Helz |
A |
G |
11: 107,489,976 (GRCm39) |
T144A |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,339,971 (GRCm39) |
V258D |
probably damaging |
Het |
| Isoc2a |
A |
T |
7: 4,898,325 (GRCm39) |
I183F |
probably benign |
Het |
| Kat2a |
G |
T |
11: 100,603,196 (GRCm39) |
|
probably benign |
Het |
| Klf9 |
A |
G |
19: 23,142,235 (GRCm39) |
M232V |
probably benign |
Het |
| Lars1 |
G |
T |
18: 42,377,973 (GRCm39) |
S147R |
possibly damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,781 (GRCm39) |
F337L |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,240,708 (GRCm39) |
N1466I |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,182,919 (GRCm39) |
|
probably null |
Het |
| Pigs |
T |
C |
11: 78,232,056 (GRCm39) |
L396P |
probably damaging |
Het |
| Prkcb |
G |
A |
7: 122,226,886 (GRCm39) |
R624Q |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,121,302 (GRCm39) |
S269P |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,875 (GRCm39) |
I505K |
probably damaging |
Het |
| Ralgds |
T |
A |
2: 28,440,523 (GRCm39) |
D777E |
probably benign |
Het |
| Rdh14 |
A |
G |
12: 10,445,123 (GRCm39) |
I325V |
probably benign |
Het |
| Rpn2 |
T |
A |
2: 157,163,781 (GRCm39) |
H624Q |
probably benign |
Het |
| Scarb1 |
C |
T |
5: 125,381,394 (GRCm39) |
S50N |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,683,772 (GRCm39) |
|
probably null |
Het |
| Slc49a3 |
G |
T |
5: 108,590,964 (GRCm39) |
T400K |
probably benign |
Het |
| Smim24 |
A |
G |
10: 81,229,966 (GRCm39) |
N27S |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,162,444 (GRCm39) |
D550G |
probably damaging |
Het |
| Tnfsf18 |
T |
A |
1: 161,322,349 (GRCm39) |
L23* |
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,694,844 (GRCm39) |
K703N |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,121,477 (GRCm39) |
S139P |
probably benign |
Homo |
|
| 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 |
|
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'- AGCTGCATGTACACTGCTTG -3'
(R):5'- ACCGTTTTCTGAATGAGGGG -3'
Sequencing Primer
(F):5'- AGCTGCATGTACACTGCTTGTATAC -3'
(R):5'- GGAAGGGTAAATGTTGTTGAACTTC -3'
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| Posted On |
2018-06-22 |
Incidental Mutation