Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00339:Barhl2'

332335

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Barhl2

Ensembl Gene

ENSMUSG00000034384

Gene Name

BarH like homeobox 2

Synonyms

MBH1, E130309B19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00339

Quality Score

Status

Chromosome

Chromosomal Location

106600389-106606032 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106603365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 265 (A265T)

Ref Sequence

ENSEMBL: ENSMUSP00000084005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086795]

AlphaFold

Q8VIB5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086795
AA Change: A265T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084005
Gene: ENSMUSG00000034384
AA Change: A265T

Domain	Start	End	E-Value	Type
low complexity region	83	138	N/A	INTRINSIC
HOX	229	291	4.6e-26	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele display postnatal lethality with slow weight gain, impaired coordination, decreased numbers of retinal ganglion cells and retinal amacrine cells, and abnormal eye electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,213,893 (GRCm39)	M707V	probably benign	Het
Amz2	A	T	11: 109,324,847 (GRCm39)	I244F	probably damaging	Het
Atp4a	T	C	7: 30,412,629 (GRCm39)	C112R	possibly damaging	Het
Axin2	A	G	11: 108,814,816 (GRCm39)	T235A	probably benign	Het
Brd8	C	A	18: 34,742,936 (GRCm39)	G310*	probably null	Het
Capn11	A	T	17: 45,954,693 (GRCm39)	I148N	probably damaging	Het
Caskin2	A	G	11: 115,694,425 (GRCm39)	L392P	probably benign	Het
Cep72	C	T	13: 74,210,387 (GRCm39)		probably benign	Het
Chst11	A	G	10: 83,027,467 (GRCm39)	Y298C	possibly damaging	Het
Cyp21a1	C	T	17: 35,023,108 (GRCm39)		probably null	Het
F830045P16Rik	T	C	2: 129,302,449 (GRCm39)	D381G	probably damaging	Het
Fnip2	T	G	3: 79,422,462 (GRCm39)	H106P	probably benign	Het
Fosl1	T	A	19: 5,500,330 (GRCm39)	I83K	probably damaging	Het
Foxk2	C	T	11: 121,190,560 (GRCm39)	T567M	probably damaging	Het
Frmd4a	A	G	2: 4,599,525 (GRCm39)	N208S	probably benign	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Heatr5a	A	T	12: 51,935,684 (GRCm39)	I1634N	probably damaging	Het
Hspg2	C	T	4: 137,266,506 (GRCm39)	T1889M	probably damaging	Het
Kcnh6	C	T	11: 105,909,845 (GRCm39)	P457S	probably damaging	Het
Kcnk18	G	T	19: 59,223,502 (GRCm39)	A216S	probably benign	Het
Klhl42	A	G	6: 147,003,231 (GRCm39)	Y335C	probably damaging	Het
Lrguk	C	T	6: 34,020,364 (GRCm39)	P36L	probably damaging	Het
Mmp1b	T	A	9: 7,368,304 (GRCm39)	R443S	probably benign	Het
Ncapd3	T	C	9: 26,963,649 (GRCm39)	S501P	probably benign	Het
Neurl4	C	T	11: 69,795,413 (GRCm39)	R422W	probably damaging	Het
Nol4	T	C	18: 22,956,469 (GRCm39)	S311G	probably benign	Het
Oaf	T	C	9: 43,135,313 (GRCm39)	D155G	probably damaging	Het
Oas1g	T	A	5: 121,024,109 (GRCm39)	K67*	probably null	Het
Or1l4	T	C	2: 37,091,609 (GRCm39)	S119P	probably damaging	Het
Or2a20	T	G	6: 43,194,782 (GRCm39)	L312V	probably benign	Het
Rims2	C	A	15: 39,323,011 (GRCm39)	T735K	probably benign	Het
Sema4f	T	C	6: 82,914,155 (GRCm39)	T68A	probably benign	Het
Snx19	T	G	9: 30,340,380 (GRCm39)	V506G	possibly damaging	Het
Sp140	T	A	1: 85,569,543 (GRCm39)	C107*	probably null	Het
Sspo	G	A	6: 48,460,680 (GRCm39)		probably benign	Het
Syce1l	T	G	8: 114,376,134 (GRCm39)	L28R	probably damaging	Het
Tgm3	G	A	2: 129,880,333 (GRCm39)	V380M	probably damaging	Het
Unc5a	T	A	13: 55,143,628 (GRCm39)	V104D	possibly damaging	Het

Other mutations in Barhl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00332:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00418:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00421:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00425:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00428:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00432:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL00471:Barhl2	APN	5	106,603,365 (GRCm39)	missense	possibly damaging	0.92
IGL02548:Barhl2	APN	5	106,603,391 (GRCm39)	missense	probably benign	0.22
BB001:Barhl2	UTSW	5	106,605,515 (GRCm39)	missense	unknown
BB011:Barhl2	UTSW	5	106,605,515 (GRCm39)	missense	unknown
R0310:Barhl2	UTSW	5	106,605,253 (GRCm39)	missense	possibly damaging	0.93
R1662:Barhl2	UTSW	5	106,601,365 (GRCm39)	missense	probably benign	0.02
R1749:Barhl2	UTSW	5	106,605,572 (GRCm39)	missense	unknown
R1974:Barhl2	UTSW	5	106,605,179 (GRCm39)	missense	probably benign	0.35
R5184:Barhl2	UTSW	5	106,605,506 (GRCm39)	missense	unknown
R5195:Barhl2	UTSW	5	106,601,305 (GRCm39)	missense	possibly damaging	0.96
R5604:Barhl2	UTSW	5	106,603,412 (GRCm39)	missense	probably benign	0.07
R6026:Barhl2	UTSW	5	106,603,474 (GRCm39)	missense	probably benign	0.04
R7924:Barhl2	UTSW	5	106,605,515 (GRCm39)	missense	unknown
R8906:Barhl2	UTSW	5	106,603,352 (GRCm39)	missense	probably benign	0.00

Posted On

2015-08-05