Mutagenetix > Incidental Mutation

Incidental Mutation 'R7123:Barhl1'

568495

Institutional Source

Beutler Lab

Gene Symbol

Barhl1

Ensembl Gene

ENSMUSG00000026805

Gene Name

BarH like homeobox 1

Synonyms

MBH2, Dres115

MMRRC Submission

045211-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.402) question?

Stock #

R7123 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28797691-28806680 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 28799943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050776] [ENSMUST00000113847] [ENSMUST00000113849] [ENSMUST00000113853]

AlphaFold

P63157

Predicted Effect

probably null
Transcript: ENSMUST00000050776

SMART Domains

Protein: ENSMUSP00000053147
Gene: ENSMUSG00000026805

Domain	Start	End	E-Value	Type
low complexity region	33	54	N/A	INTRINSIC
low complexity region	144	152	N/A	INTRINSIC
HOX	178	240	4.35e-27	SMART
low complexity region	309	321	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113847

SMART Domains

Protein: ENSMUSP00000109478
Gene: ENSMUSG00000026805

Domain	Start	End	E-Value	Type
low complexity region	33	54	N/A	INTRINSIC
low complexity region	144	152	N/A	INTRINSIC
HOX	178	240	4.35e-27	SMART
low complexity region	309	321	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113849

SMART Domains

Protein: ENSMUSP00000109480
Gene: ENSMUSG00000026805

Domain	Start	End	E-Value	Type
low complexity region	33	54	N/A	INTRINSIC
low complexity region	144	152	N/A	INTRINSIC
HOX	178	240	4.35e-27	SMART
low complexity region	309	321	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113853

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806

Domain	Start	End	E-Value	Type
DEXDc	123	332	2.28e-48	SMART
HELICc	408	487	4.02e-26	SMART
DUF4217	556	621	6.21e-22	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (52/53)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in progressive hearing loss starting at 2 weeks of age. Animals are completely deaf by 10 months of age and show degeneration of the inner and outer cochlear hair cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,484,949 (GRCm39)	I1521T	probably damaging	Het
Adgrv1	A	T	13: 81,740,693 (GRCm39)	I145N	probably damaging	Het
Ago3	C	A	4: 126,248,798 (GRCm39)		probably null	Het
Agrn	A	T	4: 156,257,297 (GRCm39)	W1178R	probably benign	Het
Akap3	A	T	6: 126,843,267 (GRCm39)	I629L	probably benign	Het
Aknad1	T	G	3: 108,682,560 (GRCm39)	Y545*	probably null	Het
Anapc1	C	A	2: 128,454,930 (GRCm39)	V1925F	probably damaging	Het
Cfap157	T	C	2: 32,669,413 (GRCm39)	E294G	probably damaging	Het
Cfd	G	A	10: 79,728,331 (GRCm39)	G231S	probably damaging	Het
Csf2ra	A	G	19: 61,215,300 (GRCm39)	V105A	probably damaging	Het
Dhtkd1	A	T	2: 5,922,591 (GRCm39)	W523R	probably damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnajc22	A	C	15: 98,999,085 (GRCm39)	Y90S	possibly damaging	Het
Ebna1bp2	A	G	4: 118,482,772 (GRCm39)	K254E	probably damaging	Het
Gfpt1	A	T	6: 87,033,168 (GRCm39)	D131V	probably damaging	Het
Gm5460	A	G	14: 33,763,982 (GRCm39)	I21V	unknown	Het
H2-T9	A	G	17: 36,438,686 (GRCm39)	I235T	possibly damaging	Het
Htr1d	C	T	4: 136,169,664 (GRCm39)		probably benign	Het
Kndc1	G	A	7: 139,516,749 (GRCm39)	E1570K	probably damaging	Het
Kntc1	T	C	5: 123,919,789 (GRCm39)	Y887H	probably damaging	Het
Kti12	T	C	4: 108,705,679 (GRCm39)	S198P	probably benign	Het
Mcmdc2	A	T	1: 10,010,643 (GRCm39)	I604F	unknown	Het
Mmp8	A	T	9: 7,563,196 (GRCm39)	D253V	probably damaging	Het
Muc4	T	C	16: 32,569,509 (GRCm39)	S252P	possibly damaging	Het
Myo5c	A	G	9: 75,196,505 (GRCm39)	K1317R	probably benign	Het
Ncoa7	T	C	10: 30,530,435 (GRCm39)	I749V	probably benign	Het
Nfrkb	A	G	9: 31,325,311 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,904,477 (GRCm39)	T7166A	probably benign	Het
Obsl1	A	G	1: 75,466,313 (GRCm39)	S1472P	probably damaging	Het
Or14j7	T	A	17: 38,234,567 (GRCm39)	L37M	probably benign	Het
Or1e20-ps1	T	A	11: 73,324,536 (GRCm39)	D172V	unknown	Het
Orc1	A	C	4: 108,445,884 (GRCm39)	M1L	probably damaging	Het
Pkd1	T	A	17: 24,813,742 (GRCm39)	S4069T	possibly damaging	Het
Pus1	T	C	5: 110,921,798 (GRCm39)	*442W	probably null	Het
Rgma	A	C	7: 73,059,139 (GRCm39)	D97A	probably damaging	Het
Ryr1	T	C	7: 28,746,279 (GRCm39)	K3834E	probably benign	Het
Sars2	T	C	7: 28,452,866 (GRCm39)	V475A	probably benign	Het
Scamp2	A	T	9: 57,494,385 (GRCm39)	T253S	probably benign	Het
Skint9	C	T	4: 112,248,174 (GRCm39)	W190*	probably null	Het
Spata31d1e	G	A	13: 59,891,254 (GRCm39)	Q189*	probably null	Het
Sv2b	C	T	7: 74,767,450 (GRCm39)	V649I	possibly damaging	Het
Synpo2	A	G	3: 122,906,835 (GRCm39)	V827A	probably benign	Het
Tiparp	A	T	3: 65,460,948 (GRCm39)	I646F	probably damaging	Het
Topaz1	G	A	9: 122,577,480 (GRCm39)	G130D	probably damaging	Het
Trio	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	15: 27,742,399 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,619,051 (GRCm39)	P319S	possibly damaging	Het
Umodl1	T	A	17: 31,201,318 (GRCm39)	F416I	possibly damaging	Het
Vmn2r104	T	C	17: 20,261,088 (GRCm39)	D445G	probably benign	Het
Wnk2	A	G	13: 49,235,462 (GRCm39)	V651A	possibly damaging	Het
Zbtb21	C	T	16: 97,751,112 (GRCm39)	S1057N	probably damaging	Het
Zfp451	A	T	1: 33,815,950 (GRCm39)	C667S	probably damaging	Het

Other mutations in Barhl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Barhl1	APN	2	28,805,558 (GRCm39)	missense	probably benign	0.03
IGL02337:Barhl1	APN	2	28,801,431 (GRCm39)	missense	probably damaging	1.00
IGL03113:Barhl1	APN	2	28,805,468 (GRCm39)	missense	probably benign	0.03
R0449:Barhl1	UTSW	2	28,805,304 (GRCm39)	missense	probably benign	0.06
R1675:Barhl1	UTSW	2	28,805,423 (GRCm39)	missense	possibly damaging	0.86
R1829:Barhl1	UTSW	2	28,799,857 (GRCm39)	missense	probably damaging	1.00
R3615:Barhl1	UTSW	2	28,801,562 (GRCm39)	missense	possibly damaging	0.75
R3616:Barhl1	UTSW	2	28,801,562 (GRCm39)	missense	possibly damaging	0.75
R4937:Barhl1	UTSW	2	28,799,785 (GRCm39)	missense	probably damaging	1.00
R5481:Barhl1	UTSW	2	28,805,352 (GRCm39)	missense	probably damaging	0.98
R6075:Barhl1	UTSW	2	28,805,231 (GRCm39)	missense	probably damaging	0.99
R6727:Barhl1	UTSW	2	28,805,495 (GRCm39)	missense	probably benign	0.01
R6728:Barhl1	UTSW	2	28,805,495 (GRCm39)	missense	probably benign	0.01
R7096:Barhl1	UTSW	2	28,799,726 (GRCm39)	missense	probably benign
R7336:Barhl1	UTSW	2	28,799,855 (GRCm39)	missense	probably benign	0.40
R7339:Barhl1	UTSW	2	28,799,899 (GRCm39)	missense	probably damaging	1.00
R7584:Barhl1	UTSW	2	28,799,803 (GRCm39)	missense	probably damaging	0.99
R9070:Barhl1	UTSW	2	28,805,423 (GRCm39)	missense	probably benign	0.17
R9087:Barhl1	UTSW	2	28,805,231 (GRCm39)	missense	probably damaging	0.99
X0065:Barhl1	UTSW	2	28,805,351 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGTGAATTTCTCCCACACGG -3'
(R):5'- TACCACAGGAGTTTGTAAGTGC -3'

Sequencing Primer
(F):5'- CCTGGAGTCCGTGGATGAG -3'
(R):5'- TCAGACAATCTGGCTTGGAGC -3'

Posted On

2019-08-09