Incidental Mutation 'R9622:Bbx'
ID |
724903 |
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 # |
R9622 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
50012207-50252753 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 50095022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 98
(V98A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066037]
[ENSMUST00000089399]
[ENSMUST00000089404]
[ENSMUST00000114488]
[ENSMUST00000138166]
|
AlphaFold |
Q8VBW5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066037
|
SMART Domains |
Protein: ENSMUSP00000066384 Gene: ENSMUSG00000022641
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: V98A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000086821 Gene: ENSMUSG00000022641 AA Change: V98A
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: V98A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000086826 Gene: ENSMUSG00000022641 AA Change: V98A
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: V98A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110132 Gene: ENSMUSG00000022641 AA Change: V98A
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: V98A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119238 Gene: ENSMUSG00000022641 AA Change: V98A
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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
A |
G |
5: 36,006,889 (GRCm39) |
K435E |
probably damaging |
Het |
Acly |
T |
C |
11: 100,395,785 (GRCm39) |
T412A |
probably damaging |
Het |
Aldh3b2 |
T |
A |
19: 4,029,489 (GRCm39) |
D287E |
probably benign |
Het |
Asphd1 |
G |
A |
7: 126,547,974 (GRCm39) |
P110S |
|
Het |
Atg7 |
T |
C |
6: 114,654,993 (GRCm39) |
L142P |
probably benign |
Het |
Atp13a4 |
T |
C |
16: 29,239,277 (GRCm39) |
I796V |
|
Het |
Brca2 |
T |
C |
5: 150,480,410 (GRCm39) |
S2727P |
probably damaging |
Het |
Camk1 |
T |
A |
6: 113,318,850 (GRCm39) |
D21V |
possibly damaging |
Het |
Cdc5l |
A |
T |
17: 45,715,709 (GRCm39) |
D634E |
probably benign |
Het |
Cfap418 |
T |
C |
4: 10,893,304 (GRCm39) |
I141T |
possibly damaging |
Het |
Cyfip1 |
A |
T |
7: 55,528,853 (GRCm39) |
D275V |
possibly damaging |
Het |
Cyp4a30b |
A |
G |
4: 115,328,162 (GRCm39) |
E477G |
probably damaging |
Het |
Cyp4f16 |
C |
T |
17: 32,769,246 (GRCm39) |
P379S |
probably damaging |
Het |
Dchs2 |
C |
T |
3: 83,263,766 (GRCm39) |
Q3345* |
probably null |
Het |
Dnaaf1 |
A |
G |
8: 120,315,001 (GRCm39) |
T270A |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,561,356 (GRCm39) |
V334A |
|
Het |
Dnhd1 |
T |
C |
7: 105,353,342 (GRCm39) |
F2832L |
probably benign |
Het |
Dock8 |
A |
G |
19: 25,098,545 (GRCm39) |
N623S |
probably null |
Het |
Eif4enif1 |
T |
C |
11: 3,165,714 (GRCm39) |
I97T |
probably benign |
Het |
Elmo1 |
C |
G |
13: 20,392,310 (GRCm39) |
P29A |
probably benign |
Het |
Erich6 |
G |
C |
3: 58,544,162 (GRCm39) |
P142A |
possibly damaging |
Het |
Fam135b |
T |
C |
15: 71,397,686 (GRCm39) |
R125G |
probably damaging |
Het |
Fcrla |
T |
A |
1: 170,749,808 (GRCm39) |
H83L |
probably damaging |
Het |
Flt3 |
C |
T |
5: 147,303,841 (GRCm39) |
E366K |
possibly damaging |
Het |
Gabbr2 |
C |
T |
4: 46,724,283 (GRCm39) |
|
probably null |
Het |
Gigyf1 |
T |
A |
5: 137,522,926 (GRCm39) |
L809* |
probably null |
Het |
Glg1 |
C |
T |
8: 111,899,133 (GRCm39) |
G711R |
probably damaging |
Het |
Gp1bb |
T |
C |
16: 18,439,527 (GRCm39) |
E189G |
probably benign |
Het |
H2-Q1 |
A |
T |
17: 35,542,532 (GRCm39) |
I326F |
probably benign |
Het |
Hoxb3 |
A |
T |
11: 96,235,420 (GRCm39) |
K116* |
probably null |
Het |
Kcnb1 |
T |
C |
2: 167,030,161 (GRCm39) |
Y128C |
probably damaging |
Het |
Kif5b |
G |
A |
18: 6,225,672 (GRCm39) |
R171C |
probably damaging |
Het |
Lcn4 |
G |
A |
2: 26,561,228 (GRCm39) |
Q18* |
probably null |
Het |
Lrp1b |
G |
A |
2: 40,779,354 (GRCm39) |
Q2677* |
probably null |
Het |
Map4k3 |
T |
A |
17: 80,958,538 (GRCm39) |
T145S |
probably damaging |
Het |
Mas1 |
T |
C |
17: 13,060,898 (GRCm39) |
E175G |
probably benign |
Het |
Metap2 |
T |
C |
10: 93,707,366 (GRCm39) |
T202A |
probably benign |
Het |
Mras |
A |
T |
9: 99,275,054 (GRCm39) |
M131K |
probably benign |
Het |
Mtor |
T |
C |
4: 148,568,169 (GRCm39) |
V1092A |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,028,751 (GRCm39) |
S582P |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,848,017 (GRCm39) |
N1085S |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,603,103 (GRCm39) |
T1149A |
probably benign |
Het |
Nipbl |
A |
T |
15: 8,366,373 (GRCm39) |
S1239T |
probably benign |
Het |
Nkpd1 |
C |
A |
7: 19,257,867 (GRCm39) |
R549S |
probably benign |
Het |
Or10a3m |
T |
A |
7: 108,312,677 (GRCm39) |
M39K |
probably benign |
Het |
Or10p1 |
G |
A |
10: 129,444,084 (GRCm39) |
H89Y |
probably benign |
Het |
Or1j1 |
A |
G |
2: 36,702,621 (GRCm39) |
L161P |
probably damaging |
Het |
Or51i2 |
T |
A |
7: 103,689,522 (GRCm39) |
V173D |
probably damaging |
Het |
Pcdh18 |
T |
C |
3: 49,711,229 (GRCm39) |
N29D |
probably benign |
Het |
Pdzrn4 |
T |
C |
15: 92,294,949 (GRCm39) |
W52R |
probably benign |
Het |
Plekhb1 |
T |
C |
7: 100,304,588 (GRCm39) |
K39E |
probably damaging |
Het |
Pramel28 |
A |
G |
4: 143,692,348 (GRCm39) |
S218P |
probably benign |
Het |
Psmb4 |
C |
A |
3: 94,792,285 (GRCm39) |
E212D |
probably benign |
Het |
Rcc1l |
A |
G |
5: 134,205,348 (GRCm39) |
L69P |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,729,952 (GRCm39) |
R1082G |
probably benign |
Het |
Rorb |
T |
C |
19: 18,955,115 (GRCm39) |
Y167C |
probably damaging |
Het |
Sanbr |
T |
A |
11: 23,534,590 (GRCm39) |
K589I |
probably damaging |
Het |
Sbsn |
GGAAATATGGCAGACAAGTTTGGTCAGGGGGCCCACCATGCTTTTGGTCAGGGCAG |
GG |
7: 30,452,067 (GRCm39) |
|
probably benign |
Het |
Scaf8 |
T |
A |
17: 3,248,170 (GRCm39) |
F1164L |
probably benign |
Het |
Scn10a |
A |
T |
9: 119,438,046 (GRCm39) |
M1940K |
probably benign |
Het |
Serpinb2 |
A |
G |
1: 107,452,298 (GRCm39) |
N292S |
probably benign |
Het |
Sparcl1 |
C |
A |
5: 104,234,998 (GRCm39) |
V506L |
possibly damaging |
Het |
Stt3a |
A |
G |
9: 36,661,025 (GRCm39) |
V262A |
possibly damaging |
Het |
Syt17 |
C |
A |
7: 118,036,191 (GRCm39) |
M58I |
probably benign |
Het |
Tas2r134 |
A |
C |
2: 51,518,358 (GRCm39) |
N279T |
possibly damaging |
Het |
Tbc1d2 |
T |
C |
4: 46,609,065 (GRCm39) |
E724G |
probably damaging |
Het |
Teddm1b |
T |
A |
1: 153,750,620 (GRCm39) |
L143Q |
|
Het |
Tlk1 |
T |
A |
2: 70,617,281 (GRCm39) |
R66S |
probably damaging |
Het |
Tmem139 |
A |
T |
6: 42,240,176 (GRCm39) |
|
probably null |
Het |
Tom1l2 |
T |
C |
11: 60,151,942 (GRCm39) |
Y155C |
possibly damaging |
Het |
Trmt1l |
C |
A |
1: 151,304,710 (GRCm39) |
S28* |
probably null |
Het |
Ttf2 |
T |
C |
3: 100,859,918 (GRCm39) |
I679V |
probably benign |
Het |
Unc13b |
T |
G |
4: 43,172,513 (GRCm39) |
F1114V |
|
Het |
Vmn2r25 |
T |
A |
6: 123,816,579 (GRCm39) |
D334V |
probably damaging |
Het |
Vps13c |
T |
G |
9: 67,856,715 (GRCm39) |
Y2581D |
probably damaging |
Het |
Xkr5 |
A |
G |
8: 18,984,247 (GRCm39) |
S432P |
probably benign |
Het |
Zc2hc1b |
G |
A |
10: 13,043,677 (GRCm39) |
P73S |
possibly damaging |
Het |
Zfhx2 |
A |
C |
14: 55,303,483 (GRCm39) |
F1500L |
probably benign |
Het |
Zfp3 |
T |
G |
11: 70,662,739 (GRCm39) |
S233A |
possibly damaging |
Het |
Zmat5 |
T |
C |
11: 4,687,453 (GRCm39) |
W169R |
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 |
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 |
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'- TGAGACCAGAGATTAATACACACG -3'
(R):5'- GAGCTGGGTTAAGTACATGGC -3'
Sequencing Primer
(F):5'- CAAGGGCCACTGCATATTTG -3'
(R):5'- CTGGGTTAAGTACATGGCTTTTGC -3'
|
Posted On |
2022-09-12 |