Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01403:Bbx'

79707

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 #

IGL01403

Quality Score

Status

Chromosome

Chromosomal Location

50191844-50432390 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50202513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 753 (I753V)

Ref Sequence

ENSEMBL: ENSMUSP00000086826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066037] [ENSMUST00000089404] [ENSMUST00000114488] [ENSMUST00000138166]

AlphaFold

Q8VBW5

Predicted Effect

probably benign
Transcript: ENSMUST00000066037
AA Change: I695V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: I695V

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: ENSMUST00000089404
AA Change: I753V

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: I753V

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
AA Change: I773V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: I773V

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
AA Change: I773V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: I773V

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,229,170		probably benign	Het
Abcb5	A	T	12: 118,872,867	L1103Q	probably damaging	Het
Adam12	T	A	7: 133,919,610	Q605L	probably benign	Het
Adk	A	G	14: 21,234,915	K102R	probably damaging	Het
Afdn	C	T	17: 13,903,870	P1761S	probably damaging	Het
Ascc1	A	G	10: 60,012,458		probably benign	Het
Aspdh	A	G	7: 44,466,559		probably null	Het
Ccdc33	T	C	9: 58,117,385	Y186C	probably damaging	Het
Ccdc78	T	A	17: 25,788,244		probably null	Het
Ckmt1	T	C	2: 121,362,966		probably benign	Het
Csf1r	A	G	18: 61,114,825	T322A	probably benign	Het
Dnah7b	T	C	1: 46,116,300		probably benign	Het
Dr1	A	G	5: 108,269,710	N41D	possibly damaging	Het
Ehmt1	G	A	2: 24,839,626	T633I	possibly damaging	Het
Fgf7	T	A	2: 126,035,940	Y76N	probably damaging	Het
Hmcn1	A	T	1: 150,593,097	W5038R	probably damaging	Het
Ighv14-1	A	G	12: 113,932,242	V21A	probably damaging	Het
Igkv5-37	T	A	6: 69,963,436	I75F	probably damaging	Het
Inhbc	T	A	10: 127,370,099	I100F	probably damaging	Het
Irs3	A	G	5: 137,645,319	F68L	probably damaging	Het
Itpr3	T	A	17: 27,118,595	C2460S	probably damaging	Het
Krt34	A	G	11: 100,038,290	C365R	possibly damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Ly6g	A	G	15: 75,158,648	N82S	probably damaging	Het
Mrpl58	A	T	11: 115,406,578	I72F	probably damaging	Het
Myo9a	G	A	9: 59,871,563	R1534H	probably damaging	Het
Npat	T	A	9: 53,555,129	F239L	probably benign	Het
Nsd2	A	G	5: 33,885,378		probably benign	Het
Nuggc	T	C	14: 65,623,186	V427A	probably benign	Het
Olfr476	A	G	7: 107,967,621	T75A	possibly damaging	Het
Olfr690	G	A	7: 105,329,398	R265C	probably benign	Het
Pde4a	A	T	9: 21,205,116	I467F	probably damaging	Het
Pkhd1l1	T	A	15: 44,483,833	C198*	probably null	Het
Pla2r1	A	G	2: 60,424,288	V1312A	probably damaging	Het
Pola2	T	C	19: 5,959,093	H79R	probably benign	Het
Pramef20	A	T	4: 144,377,133	M141K	probably benign	Het
Psen2	A	T	1: 180,234,983		probably benign	Het
Rnf213	A	G	11: 119,443,300	K3112E	probably damaging	Het
Slc6a4	G	T	11: 77,031,672	V630L	probably benign	Het
Smg1	A	T	7: 118,158,132		probably benign	Het
Tmc8	A	G	11: 117,791,074	T510A	possibly damaging	Het
Usp18	T	A	6: 121,268,668	H334Q	possibly damaging	Het
Vmn2r103	T	C	17: 19,792,967	Y117H	probably benign	Het
Vps13b	T	A	15: 35,709,479	D1857E	probably benign	Het

Other mutations in Bbx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Bbx	APN	16	50274777	nonsense	probably null
IGL02073:Bbx	APN	16	50202491	missense	probably damaging	1.00
IGL02302:Bbx	APN	16	50224915	missense	probably damaging	1.00
IGL02566:Bbx	APN	16	50223240	splice site	probably benign
IGL02618:Bbx	APN	16	50247798	missense	probably damaging	1.00
IGL03187:Bbx	APN	16	50274563	missense	probably damaging	0.96
IGL03215:Bbx	APN	16	50202572	missense	probably damaging	1.00
IGL03295:Bbx	APN	16	50224564	missense	probably damaging	1.00
dalton	UTSW	16	50210442	splice site	probably null
BB001:Bbx	UTSW	16	50224308	missense	probably damaging	1.00
BB009:Bbx	UTSW	16	50210443	critical splice donor site	probably null
BB011:Bbx	UTSW	16	50224308	missense	probably damaging	1.00
BB019:Bbx	UTSW	16	50210443	critical splice donor site	probably null
PIT4378001:Bbx	UTSW	16	50280473	nonsense	probably null
R0024:Bbx	UTSW	16	50224918	missense	probably benign
R0024:Bbx	UTSW	16	50224918	missense	probably benign
R0071:Bbx	UTSW	16	50280392	missense	probably benign	0.32
R0071:Bbx	UTSW	16	50280392	missense	probably benign	0.32
R0143:Bbx	UTSW	16	50280392	missense	probably benign	0.32
R0144:Bbx	UTSW	16	50280392	missense	probably benign	0.32
R0374:Bbx	UTSW	16	50280392	missense	probably benign	0.32
R0532:Bbx	UTSW	16	50266284	missense	probably damaging	1.00
R0550:Bbx	UTSW	16	50274533	splice site	probably benign
R0762:Bbx	UTSW	16	50225166	missense	possibly damaging	0.94
R0881:Bbx	UTSW	16	50220600	splice site	probably benign
R1448:Bbx	UTSW	16	50266270	nonsense	probably null
R1916:Bbx	UTSW	16	50266245	missense	probably damaging	1.00
R1983:Bbx	UTSW	16	50209117	missense	possibly damaging	0.62
R2006:Bbx	UTSW	16	50224395	missense	possibly damaging	0.93
R2095:Bbx	UTSW	16	50224689	missense	possibly damaging	0.88
R2145:Bbx	UTSW	16	50274544	splice site	probably benign
R2475:Bbx	UTSW	16	50220519	missense	probably damaging	0.99
R2892:Bbx	UTSW	16	50224741	missense	probably damaging	1.00
R4130:Bbx	UTSW	16	50224858	missense	probably damaging	1.00
R4177:Bbx	UTSW	16	50224858	missense	probably damaging	1.00
R4486:Bbx	UTSW	16	50200414	missense	probably damaging	1.00
R4989:Bbx	UTSW	16	50224738	missense	probably damaging	1.00
R5005:Bbx	UTSW	16	50266351	missense	probably damaging	1.00
R5427:Bbx	UTSW	16	50280497	missense	probably benign
R5582:Bbx	UTSW	16	50223356	missense	probably damaging	1.00
R6063:Bbx	UTSW	16	50251367	missense	probably benign
R6216:Bbx	UTSW	16	50251388	missense	probably benign	0.00
R6246:Bbx	UTSW	16	50224660	missense	probably benign	0.04
R6618:Bbx	UTSW	16	50266263	missense	probably damaging	1.00
R6782:Bbx	UTSW	16	50200565	missense	probably benign	0.00
R7007:Bbx	UTSW	16	50202488	missense	possibly damaging	0.67
R7130:Bbx	UTSW	16	50210442	splice site	probably null
R7864:Bbx	UTSW	16	50262434	missense	probably damaging	0.99
R7924:Bbx	UTSW	16	50224308	missense	probably damaging	1.00
R7932:Bbx	UTSW	16	50210443	critical splice donor site	probably null
R8079:Bbx	UTSW	16	50210458	missense	probably damaging	1.00
R8769:Bbx	UTSW	16	50240864	missense	probably damaging	1.00
R8833:Bbx	UTSW	16	50225266	missense	probably benign
R9087:Bbx	UTSW	16	50274635	missense	probably damaging	0.99
R9126:Bbx	UTSW	16	50200450	missense	probably damaging	1.00
R9272:Bbx	UTSW	16	50202572	missense	probably damaging	1.00
R9284:Bbx	UTSW	16	50224660	missense	probably benign	0.04
R9583:Bbx	UTSW	16	50224557	missense	possibly damaging	0.55
R9622:Bbx	UTSW	16	50274659	missense	probably damaging	0.98
R9798:Bbx	UTSW	16	50224758	missense	probably damaging	1.00
X0021:Bbx	UTSW	16	50247805	missense	possibly damaging	0.81

Posted On

2013-11-05