Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Bbx'

629242

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 #

R8079 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50012207-50252753 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50030821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 649 (N649K)

Ref Sequence

ENSEMBL: ENSMUSP00000066384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066037] [ENSMUST00000089399] [ENSMUST00000089404] [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: N649K

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

SMART Domains

Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: N649K

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: ENSMUST00000089399

SMART Domains

Protein: ENSMUSP00000086821
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	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 benign
Transcript: ENSMUST00000089404

SMART Domains

Protein: ENSMUSP00000086826
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	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

SMART Domains

Protein: ENSMUSP00000110132
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	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

SMART Domains

Protein: ENSMUSP00000119238
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	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: 99.7%
10x: 99.0%
20x: 96.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,221,186 (GRCm39)	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,170,656 (GRCm39)		probably null	Het
Akap10	G	A	11: 61,820,880 (GRCm39)	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,379,182 (GRCm39)	A27V	probably damaging	Het
Anxa8	A	G	14: 33,816,769 (GRCm39)	T246A	probably benign	Het
Arhgap5	A	G	12: 52,613,988 (GRCm39)	N1460S	probably benign	Het
Arid5b	T	G	10: 67,934,186 (GRCm39)	D572A	possibly damaging	Het
Atrn	T	A	2: 130,855,561 (GRCm39)	L1278Q	probably null	Het
AU040320	G	T	4: 126,725,953 (GRCm39)	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,731,112 (GRCm39)	R2085W	probably damaging	Het
BC034090	G	A	1: 155,101,032 (GRCm39)	P411S	probably damaging	Het
Calcoco2	A	T	11: 95,998,363 (GRCm39)	F20Y	probably damaging	Het
Carmil2	A	G	8: 106,413,393 (GRCm39)	R50G	probably damaging	Het
Catspere2	A	G	1: 177,874,525 (GRCm39)	T131A	probably benign	Het
Cdcp1	C	A	9: 123,002,855 (GRCm39)	V739L	probably damaging	Het
Chit1	A	G	1: 134,071,765 (GRCm39)	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,436,763 (GRCm39)	I185T	probably damaging	Het
Dctpp1	C	A	7: 126,858,561 (GRCm39)	V61L	probably damaging	Het
Dip2a	T	C	10: 76,123,155 (GRCm39)	T760A	probably benign	Het
Dock10	C	T	1: 80,556,421 (GRCm39)	V552I	probably benign	Het
Dpp8	A	G	9: 64,951,017 (GRCm39)	E151G	probably damaging	Het
Dvl2	G	C	11: 69,898,344 (GRCm39)	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,703,643 (GRCm39)	I539N	probably damaging	Het
Frat2	A	T	19: 41,836,277 (GRCm39)	L25H	probably damaging	Het
Garnl3	A	T	2: 32,908,511 (GRCm39)		probably null	Het
Gh	T	C	11: 106,192,253 (GRCm39)	H47R	possibly damaging	Het
Glmp	T	C	3: 88,233,045 (GRCm39)	V61A	probably damaging	Het
Gm9925	T	C	18: 74,198,558 (GRCm39)	V129A	unknown	Het
H2-M9	T	A	17: 36,953,025 (GRCm39)	E94V	probably benign	Het
Hira	A	T	16: 18,744,507 (GRCm39)	Q408L	probably benign	Het
Hook3	A	G	8: 26,578,086 (GRCm39)		probably null	Het
Ifi206	G	A	1: 173,308,724 (GRCm39)	P424L		Het
Impdh2	T	C	9: 108,440,524 (GRCm39)	V270A	probably benign	Het
Klhl14	A	G	18: 21,785,022 (GRCm39)	I135T	probably benign	Het
Klra10	C	A	6: 130,252,738 (GRCm39)	V179L	probably benign	Het
Kmt2c	T	C	5: 25,507,730 (GRCm39)	S3236G	probably damaging	Het
Krt76	G	T	15: 101,796,825 (GRCm39)	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,266,992 (GRCm39)	G424C	probably damaging	Het
Limch1	A	G	5: 67,204,096 (GRCm39)	I878V	possibly damaging	Het
Lipi	C	T	16: 75,362,418 (GRCm39)		probably null	Het
Lrrc17	C	T	5: 21,766,069 (GRCm39)	R184W	probably damaging	Het
Mllt10	A	G	2: 18,128,567 (GRCm39)	N183D	probably damaging	Het
Mterf2	C	T	10: 84,956,027 (GRCm39)	G199D	probably damaging	Het
Mucl3	T	C	17: 35,949,084 (GRCm39)	T172A	unknown	Het
Nat8f4	A	T	6: 85,877,976 (GRCm39)	S182R	probably benign	Het
Ndrg3	C	A	2: 156,779,452 (GRCm39)	E238*	probably null	Het
Nop14	A	T	5: 34,811,805 (GRCm39)	L194H	probably damaging	Het
Obscn	T	C	11: 58,972,731 (GRCm39)	E2105G	possibly damaging	Het
Or5b104	A	C	19: 13,072,648 (GRCm39)	Y121*	probably null	Het
Or5g9	A	T	2: 85,552,387 (GRCm39)	T213S	probably benign	Het
Or7g17	A	T	9: 18,768,725 (GRCm39)	Y259F	possibly damaging	Het
Or8k32	T	A	2: 86,368,725 (GRCm39)	H176L	possibly damaging	Het
Pbx3	C	T	2: 34,068,240 (GRCm39)	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,279,197 (GRCm39)	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,823,816 (GRCm39)	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,034,271 (GRCm39)	S257T	probably damaging	Het
Pclo	A	T	5: 14,590,472 (GRCm39)	H924L	unknown	Het
Per3	T	A	4: 151,127,135 (GRCm39)	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,120,924 (GRCm39)	M1270K		Het
Plec	G	A	15: 76,063,750 (GRCm39)	Q2277*	probably null	Het
Pnma1	T	A	12: 84,194,109 (GRCm39)	K198M	probably damaging	Het
Prc1	T	A	7: 79,954,515 (GRCm39)	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,441,962 (GRCm39)	T57A	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Robo4	A	G	9: 37,313,931 (GRCm39)	M61V	possibly damaging	Het
Rps12	C	T	10: 23,661,575 (GRCm39)	V79I	probably benign	Het
Rsph3a	A	G	17: 8,198,020 (GRCm39)	K466E	probably benign	Het
Scly	A	T	1: 91,236,089 (GRCm39)	I168F	probably damaging	Het
Setd1a	T	A	7: 127,384,225 (GRCm39)	F359I	unknown	Het
Sh3tc1	A	G	5: 35,864,201 (GRCm39)	L662P	possibly damaging	Het
Slc12a5	T	C	2: 164,834,372 (GRCm39)	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,364,281 (GRCm39)	R13Q	unknown	Het
Slco1a8	T	G	6: 141,933,460 (GRCm39)	M462L	probably benign	Het
Smarcad1	A	G	6: 65,029,766 (GRCm39)	D118G	possibly damaging	Het
Sos2	T	C	12: 69,653,989 (GRCm39)	T788A	probably damaging	Het
Syvn1	A	G	19: 6,098,396 (GRCm39)	E75G	probably null	Het
Thpo	T	C	16: 20,545,144 (GRCm39)	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,982,193 (GRCm39)	E78V	possibly damaging	Het
Uap1	A	G	1: 169,986,332 (GRCm39)	S217P	probably damaging	Het
Unc45a	T	G	7: 79,981,310 (GRCm39)	R497S	probably damaging	Het
Upf1	A	G	8: 70,791,534 (GRCm39)		probably null	Het
Usp47	A	T	7: 111,646,177 (GRCm39)	K28M	probably damaging	Het
Wdr72	A	C	9: 74,126,054 (GRCm39)	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,421,646 (GRCm39)	C339S	probably damaging	Het
Zfp954	G	T	7: 7,118,470 (GRCm39)	T358K	probably benign	Het
Zmynd15	G	T	11: 70,350,278 (GRCm39)		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
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'- CGTAGCCACAGAGTGTACAAAG -3'
(R):5'- ATCTGCAAGAGAACACTTCTTGC -3'

Sequencing Primer
(F):5'- AGTGTACAAAGGGATGACACC -3'
(R):5'- GAGAACACTTCTTGCAACTCAG -3'

Posted On

2020-06-30