Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00481:Barx2'

4917

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Barx2

Ensembl Gene

ENSMUSG00000032033

Gene Name

BarH-like homeobox 2

Synonyms

2310006E12Rik, Barx2b

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

IGL00481

Quality Score

Status

Chromosome

Chromosomal Location

31757340-31824581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31758141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 266 (I266V)

Ref Sequence

ENSEMBL: ENSMUSP00000112314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000116615]

AlphaFold

O08686

Predicted Effect

unknown
Transcript: ENSMUST00000116615
AA Change: I266V

SMART Domains

Protein: ENSMUSP00000112314
Gene: ENSMUSG00000032033
AA Change: I266V

Domain	Start	End	E-Value	Type
low complexity region	103	113	N/A	INTRINSIC
HOX	137	199	3.2e-25	SMART
low complexity region	230	246	N/A	INTRINSIC
low complexity region	268	283	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the homeobox transcription factor family. A highly related protein in mouse has been shown to influence cellular processes that control cell adhesion and remodeling of the actin cytoskeleton in myoblast fusion and chondrogenesis. The encoded protein may also play a role in cancer progression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted gene deletion exhibit short whiskers at birth, defective juvenile hair follicle remodeling, and short adult hair. Fifty percent of homozygotes are born with open eyelids. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,969 (GRCm39)	L944P	probably damaging	Het
Akap13	A	G	7: 75,373,643 (GRCm39)	S1885G	probably damaging	Het
Aqp3	A	G	4: 41,093,632 (GRCm39)	Y261H	probably damaging	Het
Arap2	A	T	5: 62,793,305 (GRCm39)	N1380K	probably damaging	Het
BC034090	C	T	1: 155,108,267 (GRCm39)	R360H	probably benign	Het
Bmal2	T	A	6: 146,711,164 (GRCm39)	M56K	probably benign	Het
Ccnb2	T	C	9: 70,326,189 (GRCm39)	K52E	probably damaging	Het
Ccp110	G	A	7: 118,329,220 (GRCm39)	V868I	possibly damaging	Het
Cfap300	T	C	9: 8,042,432 (GRCm39)	Y57C	probably damaging	Het
Cyld	G	T	8: 89,433,918 (GRCm39)	V236F	probably damaging	Het
Dst	T	C	1: 34,208,410 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,728,830 (GRCm39)	A637E	possibly damaging	Het
Erlin1	G	T	19: 44,057,758 (GRCm39)	Y22*	probably null	Het
Ezh1	A	T	11: 101,090,128 (GRCm39)	M539K	possibly damaging	Het
Fancc	A	T	13: 63,548,059 (GRCm39)	I80N	probably damaging	Het
Fat1	G	A	8: 45,503,977 (GRCm39)	S4447N	probably benign	Het
Fem1al	A	G	11: 29,774,755 (GRCm39)	L234P	probably damaging	Het
Fhip2a	A	G	19: 57,369,777 (GRCm39)	E440G	probably benign	Het
Frem3	A	G	8: 81,395,439 (GRCm39)	Q1822R	possibly damaging	Het
Iqgap1	C	T	7: 80,409,592 (GRCm39)	V248I	probably benign	Het
Itch	T	C	2: 155,054,943 (GRCm39)	I749T	probably damaging	Het
Kcna10	T	A	3: 107,102,830 (GRCm39)	M487K	probably benign	Het
Krt87	A	T	15: 101,386,092 (GRCm39)	L223Q	probably benign	Het
Mtmr2	T	C	9: 13,697,212 (GRCm39)	I84T	probably benign	Het
Myocd	G	A	11: 65,077,980 (GRCm39)	T477M	probably damaging	Het
Nfic	A	T	10: 81,244,054 (GRCm39)	V240E	possibly damaging	Het
Or4d2	A	G	11: 87,784,447 (GRCm39)	I101T	possibly damaging	Het
Prkdc	A	T	16: 15,608,330 (GRCm39)	Y3044F	probably benign	Het
Prkg1	A	G	19: 30,549,022 (GRCm39)	I636T	probably benign	Het
Ptpru	A	G	4: 131,535,546 (GRCm39)	V477A	probably benign	Het
Rab7b	T	A	1: 131,626,329 (GRCm39)	M119K	possibly damaging	Het
Sec61a1	T	C	6: 88,483,922 (GRCm39)		probably benign	Het
Sectm1b	A	G	11: 120,946,799 (GRCm39)	V32A	probably benign	Het
Shroom2	A	G	X: 151,406,219 (GRCm39)	S1034P	probably benign	Het
Sipa1l3	A	T	7: 29,085,533 (GRCm39)	I688N	probably damaging	Het
Slc24a1	T	C	9: 64,835,301 (GRCm39)	Y942C	probably damaging	Het
Smg1	C	T	7: 117,810,017 (GRCm39)	R139K	possibly damaging	Het
Stt3b	G	A	9: 115,080,915 (GRCm39)	T574I	probably benign	Het
Thoc2	A	G	X: 40,968,768 (GRCm39)	I76T	possibly damaging	Het
Tpm3	C	T	3: 89,995,024 (GRCm39)	T180M	probably damaging	Het
Uqcrfs1	C	A	13: 30,724,908 (GRCm39)	V211F	probably benign	Het
Usp47	A	G	7: 111,673,990 (GRCm39)	S418G	probably benign	Het
Usp5	T	C	6: 124,806,316 (GRCm39)	T15A	probably benign	Het
Vps13c	T	C	9: 67,768,147 (GRCm39)	L122P	probably damaging	Het
Zfp677	A	T	17: 21,617,930 (GRCm39)	E329V	probably benign	Het
Zfyve16	A	T	13: 92,653,046 (GRCm39)	N846K	possibly damaging	Het
Zp1	G	T	19: 10,896,141 (GRCm39)	P195T	probably damaging	Het

Other mutations in Barx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02045:Barx2	APN	9	31,770,094 (GRCm39)	missense	probably damaging	1.00
IGL03341:Barx2	APN	9	31,770,090 (GRCm39)	missense	probably damaging	1.00
R1401:Barx2	UTSW	9	31,770,327 (GRCm39)	missense	probably damaging	1.00
R1982:Barx2	UTSW	9	31,824,308 (GRCm39)	missense	probably damaging	1.00
R2436:Barx2	UTSW	9	31,824,383 (GRCm39)	missense	probably damaging	0.99
R4543:Barx2	UTSW	9	31,758,092 (GRCm39)	missense	unknown
R4804:Barx2	UTSW	9	31,758,108 (GRCm39)	missense	unknown
R5399:Barx2	UTSW	9	31,765,407 (GRCm39)	critical splice donor site	probably null
R5436:Barx2	UTSW	9	31,824,285 (GRCm39)	missense	probably damaging	1.00
R5700:Barx2	UTSW	9	31,770,061 (GRCm39)	missense	probably damaging	1.00
R6036:Barx2	UTSW	9	31,824,304 (GRCm39)	missense	probably damaging	1.00
R6036:Barx2	UTSW	9	31,824,304 (GRCm39)	missense	probably damaging	1.00
R6042:Barx2	UTSW	9	31,758,199 (GRCm39)	missense	probably benign	0.35
R6533:Barx2	UTSW	9	31,824,275 (GRCm39)	missense	probably damaging	1.00
R6618:Barx2	UTSW	9	31,758,168 (GRCm39)	missense	probably benign	0.01
R8242:Barx2	UTSW	9	31,824,227 (GRCm39)	missense	probably damaging	1.00
R8307:Barx2	UTSW	9	31,770,307 (GRCm39)	missense	probably damaging	1.00
R8507:Barx2	UTSW	9	31,770,309 (GRCm39)	missense	probably damaging	1.00
R8722:Barx2	UTSW	9	31,824,280 (GRCm39)	missense	probably damaging	1.00
R9089:Barx2	UTSW	9	31,765,443 (GRCm39)	missense	probably damaging	1.00
R9470:Barx2	UTSW	9	31,770,044 (GRCm39)	nonsense	probably null
R9720:Barx2	UTSW	9	31,765,407 (GRCm39)	critical splice donor site	probably null
Z1088:Barx2	UTSW	9	31,758,162 (GRCm39)	missense	possibly damaging	0.59

Posted On

2012-04-20