Mutagenetix > Incidental Mutation

Incidental Mutation 'R4155:Bsx'

315092

Institutional Source

Beutler Lab

Gene Symbol

Bsx

Ensembl Gene

ENSMUSG00000054360

Gene Name

brain specific homeobox

Synonyms

Bsx1a, Bsx1b

MMRRC Submission

040999-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4155 (G1)

Quality Score

144

Status

Not validated

Chromosome

Chromosomal Location

40785423-40791353 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40787632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 102 (E102G)

Ref Sequence

ENSEMBL: ENSMUSP00000068057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067375]

AlphaFold

Q810B3

Predicted Effect

probably benign
Transcript: ENSMUST00000067375
AA Change: E102G

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000068057
Gene: ENSMUSG00000054360
AA Change: E102G

Domain	Start	End	E-Value	Type
low complexity region	57	81	N/A	INTRINSIC
HOX	110	172	2.64e-26	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for mutations in Bsx display increased fat mass, decreased food intake after fasting, decreased body temperature, and reduced locomotor activity, but body weight and glucose homoeostasis are similar to wild-type. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,644,018 (GRCm39)	F69I	possibly damaging	Het
Akt3	A	G	1: 176,924,543 (GRCm39)	I184T	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Armc2	A	G	10: 41,887,863 (GRCm39)	V40A	probably damaging	Het
Ash2l	A	G	8: 26,307,482 (GRCm39)	Y485H	probably damaging	Het
Atr	T	A	9: 95,770,177 (GRCm39)	C1202*	probably null	Het
Bcl11b	A	T	12: 107,883,684 (GRCm39)		probably null	Het
Birc6	C	A	17: 74,903,934 (GRCm39)	S1242R	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Casq2	A	T	3: 102,040,418 (GRCm39)		probably null	Het
Ccpg1	C	A	9: 72,919,449 (GRCm39)	Q355K	probably benign	Het
Copa	T	G	1: 171,928,992 (GRCm39)	N251K	probably damaging	Het
Cst8	C	A	2: 148,641,996 (GRCm39)	A31E	possibly damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Ecd	A	G	14: 20,374,632 (GRCm39)	S503P	probably damaging	Het
Fbn2	C	A	18: 58,156,359 (GRCm39)	E2487*	probably null	Het
Hoxd9	A	G	2: 74,529,667 (GRCm39)	I308V	probably benign	Het
Ica1l	G	A	1: 60,053,052 (GRCm39)	A162V	possibly damaging	Het
Kcnj15	A	T	16: 95,097,166 (GRCm39)	K263*	probably null	Het
Mettl4	T	C	17: 95,048,003 (GRCm39)	M213V	probably benign	Het
Nalf1	T	A	8: 9,283,023 (GRCm39)	Y342F	possibly damaging	Het
Ncan	C	A	8: 70,562,727 (GRCm39)	E510D	possibly damaging	Het
Ndufs4	A	T	13: 114,444,390 (GRCm39)	S129R	probably benign	Het
Or14a259	T	A	7: 86,013,270 (GRCm39)	I92L	probably benign	Het
Or4c127	A	G	2: 89,833,004 (GRCm39)	S85G	probably benign	Het
Or52s19	T	C	7: 103,008,363 (GRCm39)	T13A	probably benign	Het
Or8d1b	A	T	9: 38,887,451 (GRCm39)	T160S	probably damaging	Het
P2rx5	A	G	11: 73,062,655 (GRCm39)	T455A	probably damaging	Het
Pcdh1	T	A	18: 38,336,159 (GRCm39)	T159S	probably damaging	Het
Poln	A	G	5: 34,166,993 (GRCm39)	V755A	possibly damaging	Het
Pou4f1	C	T	14: 104,705,153 (GRCm39)	S6N	possibly damaging	Het
Rpap1	C	T	2: 119,604,660 (GRCm39)	R416H	probably damaging	Het
Samd4	T	A	14: 47,290,403 (GRCm39)	M170K	possibly damaging	Het
Srgn	A	G	10: 62,333,613 (GRCm39)	F55L	possibly damaging	Het
Tmcc1	C	T	6: 116,110,765 (GRCm39)	G176D	probably benign	Het
Tmem232	A	T	17: 65,743,328 (GRCm39)	M321K	probably damaging	Het
Tnfsf11	A	G	14: 78,537,309 (GRCm39)	M118T	probably benign	Het
Tns1	T	A	1: 73,953,790 (GRCm39)	N1848Y	probably damaging	Het
Ttc27	T	G	17: 75,147,455 (GRCm39)	I669S	probably benign	Het
Uaca	A	G	9: 60,779,035 (GRCm39)	S1141G	probably benign	Het
Usp34	T	A	11: 23,367,676 (GRCm39)	V1671E	probably damaging	Het
Wdr64	T	A	1: 175,597,172 (GRCm39)	L73H	probably benign	Het
Zfp410	G	A	12: 84,374,206 (GRCm39)	R181H	probably damaging	Het

Other mutations in Bsx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02318:Bsx	APN	9	40,785,517 (GRCm39)	missense	probably benign	0.00
IGL02510:Bsx	APN	9	40,785,517 (GRCm39)	missense	possibly damaging	0.49
IGL03295:Bsx	APN	9	40,785,743 (GRCm39)	splice site	probably benign
R0507:Bsx	UTSW	9	40,787,796 (GRCm39)	splice site	probably benign
R0686:Bsx	UTSW	9	40,787,733 (GRCm39)	missense	probably damaging	1.00
R3120:Bsx	UTSW	9	40,788,908 (GRCm39)	missense	possibly damaging	0.95
R5504:Bsx	UTSW	9	40,785,460 (GRCm39)	start gained	probably benign
R6328:Bsx	UTSW	9	40,785,519 (GRCm39)	missense	probably damaging	1.00
R8695:Bsx	UTSW	9	40,785,484 (GRCm39)	missense	probably damaging	1.00
R9097:Bsx	UTSW	9	40,785,636 (GRCm39)	missense	probably damaging	1.00
R9790:Bsx	UTSW	9	40,788,905 (GRCm39)	missense	probably damaging	1.00
R9791:Bsx	UTSW	9	40,788,905 (GRCm39)	missense	probably damaging	1.00
X0027:Bsx	UTSW	9	40,789,069 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCGCTATTTTGTGGCTCC -3'
(R):5'- ACTACTTCAGAGTTGAGGAGGG -3'

Sequencing Primer
(F):5'- CCTCTTCCGGCTGTTATTGAGAG -3'
(R):5'- AGAATCCGGGGCATCCTC -3'

Posted On

2015-05-14