Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03187:Bbx'

412490

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03187

Quality Score

Status

Chromosome

Chromosomal Location

50012207-50252753 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50094926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 130 (T130I)

Ref Sequence

ENSEMBL: ENSMUSP00000119238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066037] [ENSMUST00000089399] [ENSMUST00000089404] [ENSMUST00000114477] [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: T130I

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

SMART Domains

Protein: ENSMUSP00000086821
Gene: ENSMUSG00000022641
AA Change: T130I

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: T130I

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

SMART Domains

Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: T130I

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: T130I

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

SMART Domains

Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: T130I

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: T130I

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

SMART Domains

Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: T130I

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

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdkl2	A	G	5: 92,165,239 (GRCm39)		probably null	Het
Clrn1	A	G	3: 58,753,854 (GRCm39)	V169A	probably damaging	Het
Erbb3	A	G	10: 128,408,463 (GRCm39)		probably benign	Het
Gucy2g	A	C	19: 55,219,484 (GRCm39)	I379M	possibly damaging	Het
Hps5	A	T	7: 46,422,631 (GRCm39)	L533Q	probably damaging	Het
Kansl1l	T	A	1: 66,765,062 (GRCm39)	K749N	probably damaging	Het
Krt6b	G	T	15: 101,588,392 (GRCm39)	F89L	probably benign	Het
Myh1	T	C	11: 67,097,351 (GRCm39)	F439L	possibly damaging	Het
Neb	G	A	2: 52,059,100 (GRCm39)	H213Y	probably damaging	Het
Nhej1	A	G	1: 75,007,420 (GRCm39)	S111P	possibly damaging	Het
Or4k1	G	T	14: 50,377,257 (GRCm39)	P280T	probably damaging	Het
Pcdh15	G	A	10: 74,191,706 (GRCm39)	V601M	probably damaging	Het
Ripor3	A	G	2: 167,827,588 (GRCm39)	V621A	possibly damaging	Het
Smarca2	A	G	19: 26,650,224 (GRCm39)	N732S	probably damaging	Het
Stx18	G	A	5: 38,284,327 (GRCm39)	E170K	possibly damaging	Het
Syde1	A	T	10: 78,424,943 (GRCm39)	I356N	possibly damaging	Het
Tex2	C	T	11: 106,458,903 (GRCm39)		probably benign	Het
Vmn2r50	T	G	7: 9,771,368 (GRCm39)	T778P	probably damaging	Het
Zfp709	T	G	8: 72,643,126 (GRCm39)	I184S	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
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
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

Posted On

2016-08-02