Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02510:Bsx'

296485

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bsx

Ensembl Gene

ENSMUSG00000054360

Gene Name

brain specific homeobox

Synonyms

Bsx1a, Bsx1b

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02510

Quality Score

Status

Chromosome

Chromosomal Location

40785423-40791353 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40785517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 15 (Q15L)

Ref Sequence

ENSEMBL: ENSMUSP00000068057 (fasta)

Gene Model

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

AlphaFold

Q810B3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067375
AA Change: Q15L

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000068057
Gene: ENSMUSG00000054360
AA Change: Q15L

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

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	G	A	1: 171,078,959 (GRCm39)	S193N	probably benign	Het
Arrdc1	C	A	2: 24,825,112 (GRCm39)	V16F	probably damaging	Het
Bhmt1b	A	G	18: 87,775,653 (GRCm39)	Q392R	probably benign	Het
Casp8ap2	A	G	4: 32,639,704 (GRCm39)	T253A	probably benign	Het
Cdkl3	T	C	11: 51,902,097 (GRCm39)	L102P	probably damaging	Het
Cgnl1	G	T	9: 71,632,639 (GRCm39)	N237K	probably benign	Het
Cldn14	T	A	16: 93,716,844 (GRCm39)	M1L	probably damaging	Het
Col1a2	C	T	6: 4,516,398 (GRCm39)	R171C	unknown	Het
Col7a1	C	A	9: 108,802,299 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dhrs2	G	A	14: 55,473,532 (GRCm39)	V64M	probably damaging	Het
Disp3	G	A	4: 148,337,158 (GRCm39)	H886Y	probably benign	Het
Dst	G	A	1: 34,268,332 (GRCm39)		probably null	Het
Fnbp4	T	C	2: 90,581,819 (GRCm39)	V215A	probably benign	Het
Fzd9	A	G	5: 135,278,469 (GRCm39)	L472P	probably damaging	Het
Hpd	C	T	5: 123,319,973 (GRCm39)	R15Q	possibly damaging	Het
Htra2	A	G	6: 83,028,592 (GRCm39)	V412A	probably damaging	Het
Ift80	A	G	3: 68,805,876 (GRCm39)	F722S	probably benign	Het
Kcnq2	T	C	2: 180,723,154 (GRCm39)	T741A	probably benign	Het
Kl	A	C	5: 150,912,466 (GRCm39)	E738D	probably damaging	Het
Klra4	T	A	6: 130,036,506 (GRCm39)	I178L	probably damaging	Het
Klra9	T	C	6: 130,168,185 (GRCm39)	E27G	probably benign	Het
Kntc1	T	C	5: 123,957,125 (GRCm39)	Y2145H	probably benign	Het
Mbd5	T	A	2: 49,147,041 (GRCm39)	M417K	probably benign	Het
Med31	C	T	11: 72,102,882 (GRCm39)	M75I	probably benign	Het
Mpeg1	A	T	19: 12,438,788 (GRCm39)	D82V	probably damaging	Het
Msto1	A	G	3: 88,817,652 (GRCm39)	Y439H	probably damaging	Het
Or1e17	G	A	11: 73,831,831 (GRCm39)	G253E	probably damaging	Het
Or1j15	T	C	2: 36,458,693 (GRCm39)	S28P	possibly damaging	Het
Or2av9	T	C	11: 58,381,365 (GRCm39)	Y72C	probably damaging	Het
Or5p64	T	A	7: 107,855,348 (GRCm39)		probably benign	Het
Prtg	G	A	9: 72,798,151 (GRCm39)	V706M	probably damaging	Het
Sfxn2	G	T	19: 46,576,711 (GRCm39)	A186S	probably benign	Het
Slc12a5	A	T	2: 164,824,728 (GRCm39)		probably benign	Het
Slc7a3	T	C	X: 100,126,439 (GRCm39)	E222G	probably benign	Het
Stox1	A	T	10: 62,499,826 (GRCm39)	H911Q	probably benign	Het
Sult3a2	A	T	10: 33,642,435 (GRCm39)	N289K	probably benign	Het
Supt20	A	G	3: 54,622,945 (GRCm39)		probably benign	Het
Tchh	A	G	3: 93,351,385 (GRCm39)	E275G	unknown	Het
Tectb	A	T	19: 55,179,943 (GRCm39)	N263I	probably damaging	Het
Tsga10	C	T	1: 37,800,066 (GRCm39)	R608Q	possibly damaging	Het
Ttyh3	A	G	5: 140,615,219 (GRCm39)	Y390H	probably damaging	Het
Utf1	C	A	7: 139,523,929 (GRCm39)	S48*	probably null	Het
Zfp358	G	A	8: 3,546,786 (GRCm39)	G456D	probably benign	Het
Zup1	A	G	10: 33,806,150 (GRCm39)		probably null	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
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
R4155:Bsx	UTSW	9	40,787,632 (GRCm39)	missense	probably benign	0.04
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

Posted On

2015-04-16