Mutagenetix > Incidental Mutation

Incidental Mutation 'R7924:Bbx'

643240

Institutional Source

Beutler Lab

Gene Symbol

Bbx

Ensembl Gene

ENSMUSG00000022641

Gene Name

bobby sox HMG box containing

Synonyms

5730403O13Rik, 5530401J07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7924 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

50191844-50432390 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50224308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 630 (L630H)

Ref Sequence

ENSEMBL: ENSMUSP00000110132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066037] [ENSMUST00000089399] [ENSMUST00000089404] [ENSMUST00000114488] [ENSMUST00000138166]

AlphaFold

Q8VBW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000066037
AA Change: L522H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066384
Gene: ENSMUSG00000022641
AA Change: L522H

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: L630H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086821
Gene: ENSMUSG00000022641
AA Change: L630H

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: L630H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086826
Gene: ENSMUSG00000022641
AA Change: L630H

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 damaging
Transcript: ENSMUST00000114488
AA Change: L630H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110132
Gene: ENSMUSG00000022641
AA Change: L630H

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 damaging
Transcript: ENSMUST00000138166
AA Change: L630H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119238
Gene: ENSMUSG00000022641
AA Change: L630H

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

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

99% (78/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	A	8: 124,663,312		probably benign	Het
4930435E12Rik	G	A	16: 38,812,464	Q369*	probably null	Het
Acacb	A	G	5: 114,245,220	K2155E	possibly damaging	Het
Adgre5	G	A	8: 83,729,400	P256S	possibly damaging	Het
Adipor1	T	A	1: 134,425,993	V172D	probably damaging	Het
Ahsa1	T	C	12: 87,270,456		probably null	Het
Ankrd11	T	C	8: 122,895,902	I404V	possibly damaging	Het
Asxl3	G	A	18: 22,525,545	R2204Q	probably damaging	Het
Barhl2	A	G	5: 106,457,649	S65P	unknown	Het
Cars	T	C	7: 143,569,871	T531A	possibly damaging	Het
Catsperb	T	A	12: 101,520,565	H450Q	probably benign	Het
Cdt1	T	C	8: 122,569,352	L135P	probably damaging	Het
Cemip	A	T	7: 83,943,715		probably benign	Het
Cfap206	T	A	4: 34,728,833	H24L	probably benign	Het
Cnga4	T	A	7: 105,407,821	V480E	probably benign	Het
Cnot1	ACG	A	8: 95,745,647		probably null	Het
Ctcfl	G	A	2: 173,113,656	T271I	possibly damaging	Het
Dlc1	T	C	8: 36,571,416	R1003G	probably benign	Het
Dnah7b	A	G	1: 46,219,430	D1927G	probably benign	Het
Dscc1	A	T	15: 55,082,176	D374E	probably benign	Het
Eci2	G	A	13: 34,993,070	Q69*	probably null	Het
Ep300	C	A	15: 81,649,502	P1920Q	unknown	Het
Epha5	A	G	5: 84,084,846	Y629H	possibly damaging	Het
Fam208b	A	T	13: 3,594,331	F129Y	possibly damaging	Het
Fat2	G	A	11: 55,262,787	T3533I	probably benign	Het
Fat3	T	C	9: 15,999,297	N1803S	probably damaging	Het
Fcrls	T	C	3: 87,259,533	Y51C	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Gcnt2	A	T	13: 40,918,564	K228*	probably null	Het
Gucy2c	A	T	6: 136,763,055	V258E	probably benign	Het
Hecw1	C	A	13: 14,322,528	L298F	probably damaging	Het
Hydin	T	G	8: 110,418,471	V818G	possibly damaging	Het
Hykk	A	G	9: 54,922,240	Y131C	probably damaging	Het
Ick	T	C	9: 78,155,464	L260P	probably damaging	Het
Mpo	A	G	11: 87,794,840	D48G	probably damaging	Het
Mrps10	T	C	17: 47,378,283	*202Q	probably null	Het
Mrps14	T	C	1: 160,196,989	V30A	probably benign	Het
Mtmr7	G	A	8: 40,606,884	A62V	possibly damaging	Het
Muc2	G	T	7: 141,695,388	G497W	probably damaging	Het
Nnt	A	T	13: 119,386,645	V237D	probably damaging	Het
Nox4	G	T	7: 87,374,381	V492L	probably benign	Het
Obscn	C	G	11: 59,112,555	E1306Q	probably benign	Het
Olfr303	A	G	7: 86,394,730	I256T	probably damaging	Het
Olfr993	T	C	2: 85,414,219	Y220C	probably benign	Het
Pard3	A	G	8: 127,410,750	N861S	probably benign	Het
Pdlim4	G	A	11: 54,055,222	R230*	probably null	Het
Pinlyp	C	T	7: 24,542,125	V159M	possibly damaging	Het
Pla2g4d	T	C	2: 120,289,164		probably benign	Het
Plcb1	A	T	2: 135,359,693	T855S	probably benign	Het
Pot1a	T	A	6: 25,753,310	D409V	possibly damaging	Het
Prom1	T	C	5: 44,029,769	D382G	probably benign	Het
Prss16	A	T	13: 22,008,664	N83K	probably damaging	Het
Ptprn2	A	G	12: 116,841,264	D133G	probably benign	Het
Rasef	C	T	4: 73,740,929		probably null	Het
Rbak	A	G	5: 143,174,486	S271P	probably damaging	Het
Rbm20	A	T	19: 53,677,585	I60F	possibly damaging	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rsf1	G	GACGGCCGCC	7: 97,579,909		probably benign	Het
Serpinb3c	A	G	1: 107,273,174	L171P	probably damaging	Het
Slc25a19	T	C	11: 115,615,550	Y211C	unknown	Het
Sorbs2	C	T	8: 45,795,470	S586L	probably damaging	Het
Spesp1	A	T	9: 62,273,451	S58R	probably benign	Het
Spryd3	A	G	15: 102,118,327	I329T	probably benign	Het
St8sia2	G	A	7: 73,966,952	L113F	probably damaging	Het
Star	T	C	8: 25,809,855	I75T	possibly damaging	Het
Tdrd6	T	A	17: 43,627,806	I784F	possibly damaging	Het
Tsc22d4	A	G	5: 137,768,011	I144V	unknown	Het
Tspan8	T	C	10: 115,833,324		probably null	Het
Ttll9	C	T	2: 152,962,487		probably benign	Het
Ttn	T	C	2: 76,809,850		probably benign	Het
Ubr4	T	G	4: 139,467,276	L1160R	unknown	Het
Ufd1	A	G	16: 18,823,285	Y162C	possibly damaging	Het
Unc13c	A	T	9: 73,734,408	F1268I	probably benign	Het
Uvssa	T	C	5: 33,410,951	I561T	probably damaging	Het
Vmn2r15	A	T	5: 109,286,388	S817T	probably damaging	Het
Ybx1	T	C	4: 119,282,279	E173G	probably damaging	Het
Zc3h6	T	C	2: 129,015,480	S640P	possibly damaging	Het

Other mutations in Bbx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Bbx	APN	16	50202513	missense	probably benign	0.08
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
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

Predicted Primers

PCR Primer
(F):5'- CCTGGCATTTCTCTATGATGGC -3'
(R):5'- GGCATAAAAGCAGAACCCTTG -3'

Sequencing Primer
(F):5'- AACCCTCCCTTAAGTGCTTGGAAG -3'
(R):5'- ACCCTTGACCCCTACCGAGG -3'

Posted On

2020-08-07