Mutagenetix > Incidental Mutation

Incidental Mutation 'R5005:Bbx'

390151

Institutional Source

Beutler Lab

Gene Symbol

Bbx

Ensembl Gene

ENSMUSG00000022641

Gene Name

bobby sox HMG box containing

Synonyms

5730403O13Rik, 5530401J07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50012207-50252753 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50086714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 61 (K61E)

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: K61E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: K61E

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: K142E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000086821
Gene: ENSMUSG00000022641
AA Change: K142E

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: K142E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: K142E

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 damaging
Transcript: ENSMUST00000114488
AA Change: K142E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: K142E

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 damaging
Transcript: ENSMUST00000138166
AA Change: K142E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: K142E

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2b1	T	C	11: 83,230,218 (GRCm39)	V412A	probably damaging	Het
Asic2	T	C	11: 80,774,252 (GRCm39)	Y455C	probably damaging	Het
Cd207	T	C	6: 83,651,367 (GRCm39)	E196G	possibly damaging	Het
Chn1	T	A	2: 73,490,130 (GRCm39)	Q49L	possibly damaging	Het
Cpd	A	G	11: 76,704,396 (GRCm39)	I406T	probably damaging	Het
D630003M21Rik	C	T	2: 158,053,563 (GRCm39)	V642I	possibly damaging	Het
Dnah7b	C	T	1: 46,281,188 (GRCm39)	L2750F	probably damaging	Het
Epyc	A	G	10: 97,510,562 (GRCm39)	T122A	probably benign	Het
Kcnt1	A	G	2: 25,791,358 (GRCm39)	H567R	probably damaging	Het
Magi2	A	G	5: 20,739,444 (GRCm39)	D729G	probably damaging	Het
Myh4	G	T	11: 67,144,241 (GRCm39)	V1204L	probably benign	Het
Noa1	T	C	5: 77,456,873 (GRCm39)	Y344C	probably damaging	Het
Or1j19	A	G	2: 36,677,370 (GRCm39)	M278V	probably benign	Het
Or4c102	A	G	2: 88,422,348 (GRCm39)	M67V	probably benign	Het
Pex1	T	C	5: 3,672,310 (GRCm39)	S718P	probably damaging	Het
Plxnb1	T	A	9: 108,935,647 (GRCm39)	V1061E	probably benign	Het
Rdh16f1	A	G	10: 127,624,546 (GRCm39)	Q128R	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Slc26a9	A	T	1: 131,693,625 (GRCm39)	Q705L	probably damaging	Het
Tas2r143	T	A	6: 42,377,658 (GRCm39)	C163S	probably benign	Het
Tigd2	A	G	6: 59,188,131 (GRCm39)	T333A	probably benign	Het
Urb2	T	C	8: 124,757,920 (GRCm39)	V1209A	probably damaging	Het
Vmn2r71	T	A	7: 85,273,352 (GRCm39)	V722D	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
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
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'- GCCATTCCAAAGTTGAGCTG -3'
(R):5'- TGTTCTCATCCCACGAGTTG -3'

Sequencing Primer
(F):5'- CAAAGTTGAGCTGAGGAACTTCTGTC -3'
(R):5'- GTTTTCTGAATGAGGGGAAG -3'

Posted On

2016-06-06