Incidental Mutation 'R9798:Bbx'
ID |
735068 |
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 # |
R9798 (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 50045121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 480
(D480G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066037]
[ENSMUST00000089399]
[ENSMUST00000089404]
[ENSMUST00000114488]
[ENSMUST00000138166]
|
AlphaFold |
Q8VBW5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066037
AA Change: D372G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066384 Gene: ENSMUSG00000022641 AA Change: D372G
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 damaging
Transcript: ENSMUST00000089399
AA Change: D480G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000086821 Gene: ENSMUSG00000022641 AA Change: D480G
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 damaging
Transcript: ENSMUST00000089404
AA Change: D480G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000086826 Gene: ENSMUSG00000022641 AA Change: D480G
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 damaging
Transcript: ENSMUST00000114488
AA Change: D480G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110132 Gene: ENSMUSG00000022641 AA Change: D480G
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 damaging
Transcript: ENSMUST00000138166
AA Change: D480G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119238 Gene: ENSMUSG00000022641 AA Change: D480G
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: 99.8%
- 10x: 99.4%
- 20x: 98.3%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
A |
T |
13: 61,000,934 (GRCm39) |
S201T |
possibly damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,074,927 (GRCm39) |
D98G |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,990,983 (GRCm39) |
D4089G |
probably damaging |
Het |
Alpk3 |
T |
A |
7: 80,742,400 (GRCm39) |
M739K |
probably benign |
Het |
Asns |
T |
C |
6: 7,689,395 (GRCm39) |
N36D |
possibly damaging |
Het |
Bbs7 |
A |
T |
3: 36,652,439 (GRCm39) |
M338K |
probably benign |
Het |
Cc2d2b |
G |
A |
19: 40,783,080 (GRCm39) |
V626I |
unknown |
Het |
Celsr3 |
A |
T |
9: 108,705,794 (GRCm39) |
D759V |
probably damaging |
Het |
Entpd1 |
G |
A |
19: 40,715,789 (GRCm39) |
V319M |
possibly damaging |
Het |
Espnl |
G |
T |
1: 91,251,286 (GRCm39) |
G127V |
probably damaging |
Het |
Fgfr1 |
C |
T |
8: 26,053,523 (GRCm39) |
T266I |
unknown |
Het |
Fktn |
C |
T |
4: 53,747,128 (GRCm39) |
H344Y |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,192,402 (GRCm39) |
M2678V |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,810,225 (GRCm39) |
Y2181* |
probably null |
Het |
Gm21698 |
A |
T |
5: 26,189,184 (GRCm39) |
D256E |
probably damaging |
Het |
Hipk1 |
C |
T |
3: 103,651,431 (GRCm39) |
V1156I |
possibly damaging |
Het |
Igsf10 |
T |
A |
3: 59,239,126 (GRCm39) |
I352F |
probably damaging |
Het |
Igsf5 |
C |
A |
16: 96,174,075 (GRCm39) |
T35K |
probably damaging |
Het |
Il23a |
G |
C |
10: 128,132,829 (GRCm39) |
R143G |
probably benign |
Het |
Kctd11 |
T |
G |
11: 69,770,732 (GRCm39) |
H102P |
probably damaging |
Het |
Msln |
T |
C |
17: 25,972,771 (GRCm39) |
T37A |
probably benign |
Het |
Or7g29 |
T |
A |
9: 19,286,577 (GRCm39) |
Y200F |
probably benign |
Het |
Or8u10 |
T |
C |
2: 85,915,606 (GRCm39) |
N172D |
probably damaging |
Het |
Phtf1 |
T |
C |
3: 103,904,869 (GRCm39) |
S506P |
probably benign |
Het |
Pias3 |
T |
C |
3: 96,606,881 (GRCm39) |
I57T |
probably damaging |
Het |
Psmc2 |
A |
G |
5: 22,000,806 (GRCm39) |
I94V |
probably benign |
Het |
Ripor1 |
T |
C |
8: 106,342,798 (GRCm39) |
Y224H |
possibly damaging |
Het |
Rrh |
C |
T |
3: 129,605,421 (GRCm39) |
V229M |
probably damaging |
Het |
Scaf4 |
G |
A |
16: 90,045,533 (GRCm39) |
R526C |
unknown |
Het |
Slc1a6 |
G |
A |
10: 78,629,167 (GRCm39) |
|
probably null |
Het |
Slc4a7 |
A |
G |
14: 14,782,056 (GRCm38) |
D937G |
probably damaging |
Het |
Slco1b2 |
C |
A |
6: 141,601,079 (GRCm39) |
T134K |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,056,717 (GRCm39) |
*2562W |
probably null |
Het |
Ston1 |
T |
C |
17: 88,944,472 (GRCm39) |
V626A |
probably damaging |
Het |
Synpo |
A |
T |
18: 60,736,832 (GRCm39) |
D371E |
possibly damaging |
Het |
Tex15 |
T |
A |
8: 34,062,721 (GRCm39) |
V717D |
probably damaging |
Het |
Tmod3 |
A |
C |
9: 75,436,805 (GRCm39) |
N43K |
probably damaging |
Het |
Tmod3 |
G |
T |
9: 75,436,801 (GRCm39) |
L45I |
possibly damaging |
Het |
Tmod3 |
G |
C |
9: 75,436,803 (GRCm39) |
A44G |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,389,845 (GRCm38) |
F228L |
probably damaging |
Het |
Trappc14 |
A |
G |
5: 138,259,940 (GRCm39) |
M372T |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,644,002 (GRCm39) |
T4455A |
possibly damaging |
Het |
Vmn1r178 |
C |
A |
7: 23,593,733 (GRCm39) |
Y260* |
probably null |
Het |
Vps13c |
T |
A |
9: 67,826,646 (GRCm39) |
I1429N |
probably damaging |
Het |
Wdr31 |
A |
G |
4: 62,381,651 (GRCm39) |
V60A |
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 |
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 |
X0021:Bbx
|
UTSW |
16 |
50,068,168 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGGAGGTCGAGACTCTTTG -3'
(R):5'- TGTCCCCAGTAGAAAGGACC -3'
Sequencing Primer
(F):5'- TGAGCACTTCTCCTTGGAAAC -3'
(R):5'- GTAGAAAGGACCACATGTGCCATC -3'
|
Posted On |
2022-11-14 |