Incidental Mutation 'R7007:Bbx'
| ID |
544797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bbx
|
| Ensembl Gene |
ENSMUSG00000022641 |
| Gene Name |
bobby sox HMG box containing |
| Synonyms |
5730403O13Rik, 5530401J07Rik |
| MMRRC Submission |
045109-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7007 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
50012207-50252753 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 50022851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 703
(T703I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066037]
[ENSMUST00000089404]
[ENSMUST00000114488]
[ENSMUST00000138166]
|
| AlphaFold |
Q8VBW5 |
| PDB Structure |
Solution Structure of the HMG_box Domain of Murine Bobby Sox Homolog [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066037
AA Change: T703I
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: T703I
| 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: ENSMUST00000089404
AA Change: T761I
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: T761I
| 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 |
probably benign
Transcript: ENSMUST00000114488
AA Change: T781I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: T781I
| 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 |
probably benign
Transcript: ENSMUST00000138166
AA Change: T781I
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: T781I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
95% (63/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,817,121 (GRCm39) |
T57I |
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,576,565 (GRCm39) |
N999S |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,684,483 (GRCm39) |
I1073F |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,843,439 (GRCm39) |
D686G |
probably damaging |
Het |
| Alg2 |
A |
T |
4: 47,471,881 (GRCm39) |
I309N |
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,639,168 (GRCm39) |
E1360G |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,370,051 (GRCm39) |
Q788K |
probably damaging |
Het |
| Apoc2 |
A |
T |
7: 19,407,282 (GRCm39) |
D26E |
possibly damaging |
Het |
| C2cd4d |
T |
C |
3: 94,271,378 (GRCm39) |
Y215H |
probably benign |
Het |
| C3 |
C |
T |
17: 57,525,809 (GRCm39) |
E858K |
probably benign |
Het |
| Ciita |
T |
C |
16: 10,329,171 (GRCm39) |
L482P |
probably damaging |
Het |
| Cldn9 |
T |
C |
17: 23,902,052 (GRCm39) |
E191G |
probably benign |
Het |
| Cnst |
T |
A |
1: 179,438,133 (GRCm39) |
S566T |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,417,609 (GRCm39) |
I1322T |
possibly damaging |
Het |
| Cp |
G |
A |
3: 20,024,137 (GRCm39) |
V326M |
probably damaging |
Het |
| Cyp7b1 |
G |
A |
3: 18,151,782 (GRCm39) |
Q144* |
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,864,490 (GRCm39) |
S2232P |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,009,697 (GRCm39) |
E625G |
possibly damaging |
Het |
| Dnah7c |
T |
A |
1: 46,571,910 (GRCm39) |
D794E |
probably benign |
Het |
| Dusp10 |
G |
A |
1: 183,769,414 (GRCm39) |
V127M |
probably benign |
Het |
| Dysf |
G |
C |
6: 84,090,962 (GRCm39) |
W1015C |
probably damaging |
Het |
| Fbxw17 |
T |
C |
13: 50,577,808 (GRCm39) |
Y104H |
probably damaging |
Het |
| Gm6408 |
G |
A |
5: 146,420,647 (GRCm39) |
E176K |
probably damaging |
Het |
| Gp1bb |
T |
A |
16: 18,439,689 (GRCm39) |
D135V |
possibly damaging |
Het |
| Gprin1 |
C |
T |
13: 54,886,069 (GRCm39) |
C735Y |
probably damaging |
Het |
| Heatr9 |
T |
A |
11: 83,411,446 (GRCm39) |
M30L |
possibly damaging |
Het |
| Hhat |
G |
A |
1: 192,376,134 (GRCm39) |
T333I |
possibly damaging |
Het |
| Htr5b |
A |
G |
1: 121,438,223 (GRCm39) |
F336S |
probably damaging |
Het |
| Ippk |
T |
G |
13: 49,590,181 (GRCm39) |
|
probably null |
Het |
| Jph1 |
T |
A |
1: 17,074,410 (GRCm39) |
H11L |
possibly damaging |
Het |
| Kif12 |
T |
A |
4: 63,084,717 (GRCm39) |
I534L |
probably benign |
Het |
| Lemd3 |
A |
T |
10: 120,788,137 (GRCm39) |
F523I |
probably benign |
Het |
| Lgsn |
C |
A |
1: 31,229,508 (GRCm39) |
H76Q |
probably benign |
Het |
| Lipm |
T |
A |
19: 34,089,497 (GRCm39) |
W152R |
probably damaging |
Het |
| Mei1 |
A |
T |
15: 81,978,200 (GRCm39) |
R216W |
probably damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,389,274 (GRCm39) |
G379S |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,179,142 (GRCm39) |
T512A |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,337,849 (GRCm39) |
|
probably null |
Het |
| Npc1 |
T |
C |
18: 12,343,605 (GRCm39) |
T463A |
probably benign |
Het |
| Or12e10 |
A |
G |
2: 87,640,230 (GRCm39) |
N22S |
probably damaging |
Het |
| Or2y13 |
G |
A |
11: 49,415,011 (GRCm39) |
V154M |
probably benign |
Het |
| Or6c7 |
A |
T |
10: 129,323,277 (GRCm39) |
I133F |
probably damaging |
Het |
| Osbpl11 |
T |
G |
16: 33,047,309 (GRCm39) |
I424R |
possibly damaging |
Het |
| Pnma8b |
A |
T |
7: 16,680,181 (GRCm39) |
K388N |
possibly damaging |
Het |
| Ppp1r26 |
A |
T |
2: 28,341,171 (GRCm39) |
K267I |
probably damaging |
Het |
| Psmb5 |
A |
T |
14: 54,854,166 (GRCm39) |
M104K |
probably damaging |
Het |
| Ptges2 |
T |
C |
2: 32,292,318 (GRCm39) |
V378A |
probably benign |
Het |
| Rcan2 |
C |
T |
17: 44,147,216 (GRCm39) |
S18F |
probably benign |
Het |
| Saxo5 |
A |
T |
8: 3,526,309 (GRCm39) |
D154V |
probably damaging |
Het |
| Sf3b2 |
C |
T |
19: 5,324,545 (GRCm39) |
R859Q |
probably benign |
Het |
| Slc7a1 |
G |
A |
5: 148,289,256 (GRCm39) |
|
|
Het |
| Spata31d1a |
T |
A |
13: 59,851,448 (GRCm39) |
T227S |
probably benign |
Het |
| Sptbn2 |
T |
A |
19: 4,794,173 (GRCm39) |
V1459E |
possibly damaging |
Het |
| Srgap2 |
T |
C |
1: 131,247,275 (GRCm39) |
I586V |
probably benign |
Het |
| St6galnac1 |
G |
A |
11: 116,657,833 (GRCm39) |
R356* |
probably null |
Het |
| Taf5 |
T |
A |
19: 47,059,650 (GRCm39) |
F265I |
probably damaging |
Het |
| Tkfc |
T |
A |
19: 10,573,727 (GRCm39) |
I229L |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,436,679 (GRCm39) |
L56Q |
probably damaging |
Het |
| Togaram2 |
C |
T |
17: 72,016,638 (GRCm39) |
A665V |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,537,390 (GRCm39) |
T34846I |
probably benign |
Het |
| Tyr |
G |
A |
7: 87,142,548 (GRCm39) |
A4V |
probably benign |
Het |
| Ubap2 |
A |
C |
4: 41,206,221 (GRCm39) |
F549L |
probably damaging |
Het |
| Usp2 |
T |
C |
9: 44,001,339 (GRCm39) |
S294P |
probably damaging |
Het |
| Vrk3 |
A |
G |
7: 44,407,187 (GRCm39) |
N53D |
probably damaging |
Het |
| Zfp324 |
T |
C |
7: 12,705,142 (GRCm39) |
S444P |
probably damaging |
Het |
| Zfp597 |
T |
C |
16: 3,683,791 (GRCm39) |
I322V |
probably benign |
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 |
|
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'- ACACCAGGTCTTTATTGAGAAGC -3'
(R):5'- GGTCAGGCATACAGAAACATGTC -3'
Sequencing Primer
(F):5'- ATAGTCATTTGGAGGCCAGC -3'
(R):5'- CAGAAACATGTCTTTTCCAGGATGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation