Mutagenetix > Incidental Mutation

Incidental Mutation 'R1916:Bbx'

214908

Institutional Source

Beutler Lab

Gene Symbol

Bbx

Ensembl Gene

ENSMUSG00000022641

Gene Name

bobby sox HMG box containing

Synonyms

5730403O13Rik, 5530401J07Rik

MMRRC Submission

039934-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1916 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50012207-50252753 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50086608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 96 (S96Y)

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: S96Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: S96Y

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

possibly damaging
Transcript: ENSMUST00000089399
AA Change: S177Y

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000086821
Gene: ENSMUSG00000022641
AA Change: S177Y

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

possibly damaging
Transcript: ENSMUST00000089404
AA Change: S177Y

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: S177Y

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

possibly damaging
Transcript: ENSMUST00000114488
AA Change: S177Y

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: S177Y

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

possibly damaging
Transcript: ENSMUST00000138166
AA Change: S177Y

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: S177Y

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

Meta Mutation Damage Score

0.1258

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

Validation Efficiency

99% (97/98)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,652,924 (GRCm39)	K121R	possibly damaging	Het
Abca13	G	T	11: 9,484,456 (GRCm39)	W4342L	probably damaging	Het
Abcg8	A	T	17: 84,995,958 (GRCm39)		probably null	Het
Acaa1b	A	G	9: 118,985,730 (GRCm39)	L65P	probably damaging	Het
Adam6a	G	T	12: 113,509,556 (GRCm39)	R643L	probably benign	Het
Agbl2	A	T	2: 90,645,785 (GRCm39)	R839S	possibly damaging	Het
Ambra1	A	T	2: 91,741,806 (GRCm39)	N967I	probably damaging	Het
Ankrd17	T	A	5: 90,408,000 (GRCm39)	N1406Y	probably damaging	Het
Armh4	T	C	14: 50,005,932 (GRCm39)	T588A	probably damaging	Het
Cdh12	T	A	15: 21,520,336 (GRCm39)		probably null	Het
Cdh9	A	C	15: 16,823,361 (GRCm39)	R114S	probably benign	Het
Cenpo	T	G	12: 4,266,683 (GRCm39)	I142L	probably benign	Het
Cfap69	T	C	5: 5,713,970 (GRCm39)	K21E	probably damaging	Het
Chmp4c	A	T	3: 10,454,996 (GRCm39)	D221V	probably benign	Het
Cstf3	T	A	2: 104,486,101 (GRCm39)	V447D	possibly damaging	Het
Cwc22	A	T	2: 77,735,819 (GRCm39)	C566S	probably benign	Het
Dgkh	A	G	14: 78,832,663 (GRCm39)	M798T	probably damaging	Het
Dnai2	T	C	11: 114,623,749 (GRCm39)	V4A	possibly damaging	Het
Dnai7	A	C	6: 145,121,926 (GRCm39)	V631G	probably benign	Het
Dnmbp	T	G	19: 43,890,007 (GRCm39)	I587L	possibly damaging	Het
Dock6	A	T	9: 21,724,387 (GRCm39)	M301K	probably damaging	Het
Dock8	T	C	19: 25,038,521 (GRCm39)	M69T	probably benign	Het
Ears2	T	C	7: 121,643,801 (GRCm39)	S386G	probably benign	Het
Ecsit	T	C	9: 21,983,817 (GRCm39)	I371V	probably benign	Het
Eif4a3	T	C	11: 119,184,737 (GRCm39)	I216V	probably benign	Het
Emp1	A	G	6: 135,357,128 (GRCm39)	I69V	probably damaging	Het
Epg5	A	G	18: 78,008,236 (GRCm39)	D788G	probably benign	Het
Eps15	A	G	4: 109,226,171 (GRCm39)	K324E	probably damaging	Het
Extl3	A	G	14: 65,315,071 (GRCm39)	F37S	probably benign	Het
Fam83g	A	G	11: 61,585,994 (GRCm39)	D194G	probably damaging	Het
Gcc2	A	G	10: 58,112,485 (GRCm39)	D1005G	probably damaging	Het
Gm10226	T	A	17: 21,910,916 (GRCm39)	H50Q	possibly damaging	Het
Gm1110	A	T	9: 26,800,934 (GRCm39)	V420E	probably damaging	Het
Gm16503	A	G	4: 147,625,667 (GRCm39)	R54G	unknown	Het
Grin3b	T	C	10: 79,810,432 (GRCm39)	M646T	probably damaging	Het
Grm8	T	C	6: 27,363,583 (GRCm39)	D644G	probably benign	Het
Gtf2i	C	A	5: 134,275,702 (GRCm39)	V660F	probably damaging	Het
Heatr4	G	T	12: 84,002,591 (GRCm39)	Q808K	probably benign	Het
Hif3a	T	C	7: 16,773,581 (GRCm39)	S573G	possibly damaging	Het
Htr2b	C	T	1: 86,027,523 (GRCm39)	V328M	probably damaging	Het
Jph1	T	C	1: 17,162,279 (GRCm39)	T128A	probably damaging	Het
Kcnt1	T	C	2: 25,790,481 (GRCm39)	V481A	probably damaging	Het
Khk	A	G	5: 31,087,962 (GRCm39)	Y212C	probably damaging	Het
Lgi2	T	A	5: 52,703,974 (GRCm39)	Q219L	probably benign	Het
Lipf	T	A	19: 33,943,075 (GRCm39)	Y128N	probably benign	Het
Lipg	A	G	18: 75,094,008 (GRCm39)	V13A	probably benign	Het
Lrrc8e	T	C	8: 4,285,202 (GRCm39)	S476P	probably benign	Het
Map2k7	T	G	8: 4,295,795 (GRCm39)	V425G	probably benign	Het
Mycbp2	A	T	14: 103,422,319 (GRCm39)	S2451R	probably damaging	Het
Mylk3	A	G	8: 86,053,821 (GRCm39)	S629P	probably damaging	Het
Nrp2	A	T	1: 62,801,906 (GRCm39)	I450F	probably damaging	Het
Or4c126	T	C	2: 89,824,148 (GRCm39)	V137A	probably benign	Het
Or8g50	A	G	9: 39,648,918 (GRCm39)	D269G	probably benign	Het
Osbpl11	T	C	16: 33,006,213 (GRCm39)	S14P	probably benign	Het
Osbpl11	T	A	16: 33,030,465 (GRCm39)	V231D	possibly damaging	Het
Parg	T	A	14: 31,930,184 (GRCm39)		probably benign	Het
Pax9	G	T	12: 56,743,923 (GRCm39)	R190L	possibly damaging	Het
Prss12	G	A	3: 123,300,144 (GRCm39)	V752I	probably benign	Het
Pstpip2	A	G	18: 77,922,892 (GRCm39)	N34S	probably damaging	Het
Rarg	T	C	15: 102,160,880 (GRCm39)	D53G	probably benign	Het
Rbak	T	C	5: 143,161,871 (GRCm39)	K53R	probably damaging	Het
Scgn	A	T	13: 24,162,808 (GRCm39)	S107R	probably damaging	Het
Sema3c	A	G	5: 17,932,399 (GRCm39)	Q634R	probably benign	Het
Serpinh1	A	G	7: 98,998,288 (GRCm39)	L114P	probably damaging	Het
Slc35f4	T	C	14: 49,541,380 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,201,884 (GRCm39)	I617F	probably null	Het
Spata31	C	T	13: 65,070,359 (GRCm39)	R836*	probably null	Het
Spen	A	G	4: 141,199,909 (GRCm39)	L2883P	probably damaging	Het
Stmn3	A	T	2: 180,949,073 (GRCm39)	M140K	possibly damaging	Het
Syn3	A	G	10: 86,190,208 (GRCm39)		probably null	Het
Tamalin	T	C	15: 101,124,850 (GRCm39)		probably benign	Het
Tor4a	A	G	2: 25,085,414 (GRCm39)	V163A	possibly damaging	Het
Ttc12	A	G	9: 49,371,698 (GRCm39)	Y189H	probably damaging	Het
Ubxn7	T	G	16: 32,200,577 (GRCm39)		probably benign	Het
Unc5b	G	A	10: 60,614,027 (GRCm39)	T274I	probably damaging	Het
Upk1b	C	A	16: 38,596,548 (GRCm39)		probably null	Het
Usp18	A	G	6: 121,245,513 (GRCm39)	I296M	probably benign	Het
Usp42	A	G	5: 143,700,811 (GRCm39)	Y1071H	probably damaging	Het
Vil1	A	G	1: 74,457,684 (GRCm39)	T106A	probably benign	Het
Vmn1r42	T	A	6: 89,821,949 (GRCm39)	I207F	probably benign	Het
Vmn1r63	A	G	7: 5,806,225 (GRCm39)	F136L	probably damaging	Het
Vopp1	C	T	6: 57,731,572 (GRCm39)	V140I	probably benign	Het
Wdhd1	T	C	14: 47,496,034 (GRCm39)	D610G	possibly damaging	Het
Wdr48	T	A	9: 119,741,483 (GRCm39)	D142E	probably benign	Het
Whrn	A	G	4: 63,412,969 (GRCm39)	Y10H	probably damaging	Het
Zmat3	A	G	3: 32,397,497 (GRCm39)	V216A	probably benign	Het
Zmym2	C	T	14: 57,197,299 (GRCm39)	R1356W	probably damaging	Het
Zyg11b	A	T	4: 108,129,480 (GRCm39)	L44Q	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
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
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'- TCAGCTGCATGTACACTGCTTG -3'
(R):5'- CCGTTTTCTGAATGAGGGGAAG -3'

Sequencing Primer
(F):5'- AGCTGCATGTACACTGCTTGTATAC -3'
(R):5'- GGAAGGGTAAATGTTGTTGAACTTC -3'

Posted On

2014-07-14