Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00425:Barhl2'

277584

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 #

IGL00425

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	C	T	14: 66,311,498 (GRCm39)		probably null	Het
Adgrb2	A	T	4: 129,912,865 (GRCm39)	H1373L	probably benign	Het
Adgrf4	A	G	17: 42,977,547 (GRCm39)	S599P	probably damaging	Het
Atp9b	G	A	18: 80,961,103 (GRCm39)		probably benign	Het
Baiap2	A	G	11: 119,872,836 (GRCm39)	T125A	probably benign	Het
Cacna2d2	T	C	9: 107,404,550 (GRCm39)	S1114P	probably damaging	Het
Ccdc159	T	C	9: 21,840,765 (GRCm39)	S111P	possibly damaging	Het
Cd177	T	A	7: 24,459,176 (GRCm39)	T78S	possibly damaging	Het
Cdk5rap2	A	G	4: 70,321,709 (GRCm39)		probably null	Het
Cdkl3	C	A	11: 51,920,683 (GRCm39)	T462K	probably benign	Het
Chid1	A	C	7: 141,102,609 (GRCm39)	L208R	probably damaging	Het
Clca3b	A	G	3: 144,542,342 (GRCm39)	S487P	probably benign	Het
Col6a3	A	T	1: 90,709,748 (GRCm39)	L1816Q	unknown	Het
Dido1	A	G	2: 180,325,782 (GRCm39)	S469P	probably benign	Het
Dsg2	A	G	18: 20,734,826 (GRCm39)	N935D	probably benign	Het
Fbxw2	A	G	2: 34,702,961 (GRCm39)	I184T	probably benign	Het
Gbp9	T	C	5: 105,253,620 (GRCm39)	I32V	possibly damaging	Het
Hycc2	A	T	1: 58,579,412 (GRCm39)		probably benign	Het
Itgb8	G	A	12: 119,153,561 (GRCm39)	T318I	probably damaging	Het
Kcnb2	A	G	1: 15,781,236 (GRCm39)	S703G	probably benign	Het
Kif26b	A	T	1: 178,743,866 (GRCm39)	S1321C	probably damaging	Het
Klb	A	G	5: 65,529,717 (GRCm39)	N415S	possibly damaging	Het
Megf10	C	A	18: 57,373,700 (GRCm39)	A166D	probably damaging	Het
Mrm3	T	G	11: 76,135,319 (GRCm39)	S177A	probably damaging	Het
Nav3	A	G	10: 109,539,368 (GRCm39)	F2011S	probably benign	Het
Nipal1	C	T	5: 72,816,067 (GRCm39)	S30L	probably benign	Het
Ogdhl	T	C	14: 32,068,447 (GRCm39)	Y895H	probably damaging	Het
Pif1	A	G	9: 65,500,559 (GRCm39)	N495D	probably damaging	Het
Prrc2c	A	T	1: 162,548,182 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,237,866 (GRCm39)	D724G	probably damaging	Het
Runx1t1	A	G	4: 13,835,663 (GRCm39)	D40G	probably benign	Het
Serhl	A	T	15: 82,989,838 (GRCm39)	D192V	possibly damaging	Het
Slc12a5	C	T	2: 164,825,201 (GRCm39)	A461V	probably damaging	Het
Tomm34	A	T	2: 163,900,582 (GRCm39)		probably benign	Het
Zfp54	A	G	17: 21,650,559 (GRCm39)	N45D	probably 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
IGL00339: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
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

2015-04-16