Mutagenetix > Incidental Mutation

Incidental Mutation 'R1675:Barhl1'

187973

Institutional Source

Beutler Lab

Gene Symbol

Barhl1

Ensembl Gene

ENSMUSG00000026805

Gene Name

BarH like homeobox 1

Synonyms

Dres115, MBH2

MMRRC Submission

039711-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.425) question?

Stock #

R1675 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28907679-28916668 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28915411 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 90 (R90Q)

Ref Sequence

ENSEMBL: ENSMUSP00000109480 (fasta)

Gene Model

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

AlphaFold

P63157

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050776
AA Change: R90Q

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053147
Gene: ENSMUSG00000026805
AA Change: R90Q

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

possibly damaging
Transcript: ENSMUST00000113847
AA Change: R90Q

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109478
Gene: ENSMUSG00000026805
AA Change: R90Q

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

possibly damaging
Transcript: ENSMUST00000113849
AA Change: R90Q

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109480
Gene: ENSMUSG00000026805
AA Change: R90Q

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

noncoding transcript
Transcript: ENSMUST00000124059

SMART Domains

Protein: ENSMUSP00000134363
Gene: ENSMUSG00000026805

Domain	Start	End	E-Value	Type
low complexity region	6	21	N/A	INTRINSIC
low complexity region	76	95	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174027

SMART Domains

Protein: ENSMUSP00000134118
Gene: ENSMUSG00000026805

Domain	Start	End	E-Value	Type
HOX	1	32	2.5e-3	SMART
low complexity region	101	113	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 93.1%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,263,411		probably null	Het
Adam6b	T	C	12: 113,491,044	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 27,082,485		probably null	Het
Anapc2	G	A	2: 25,272,639	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,894,899	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,731,211	A1111V	possibly damaging	Het
Atoh1	T	C	6: 64,730,157	S279P	probably benign	Het
Atp10b	A	G	11: 43,225,648	T941A	probably damaging	Het
Calr3	T	C	8: 72,431,458	D91G	probably damaging	Het
Ccdc148	T	C	2: 58,980,554	D317G	probably damaging	Het
Cnn3	C	T	3: 121,457,169	Q19*	probably null	Het
Cul5	T	C	9: 53,646,683	D207G	probably benign	Het
Cyp4x1	T	C	4: 115,127,560	E41G	possibly damaging	Het
Dagla	T	A	19: 10,269,323	M138L	probably benign	Het
Dnah6	A	T	6: 73,129,540	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,215,686	S88T	probably benign	Het
Eno3	T	C	11: 70,658,666		probably null	Het
Erbb3	C	A	10: 128,571,204	S1029I	probably damaging	Het
Erbin	C	A	13: 103,841,178	V624L	probably damaging	Het
Fam170b	C	T	14: 32,835,402	Q65*	probably null	Het
Fam208b	T	C	13: 3,569,507	I2241M	possibly damaging	Het
Gin1	T	A	1: 97,786,055	L360*	probably null	Het
Gldc	A	T	19: 30,143,453	D359E	probably damaging	Het
Gpr107	A	T	2: 31,167,051	T52S	possibly damaging	Het
Hip1r	A	G	5: 123,994,820	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,135,559	L1004P	probably damaging	Het
Hspa1l	A	G	17: 34,977,443	N153D	probably damaging	Het
Itga8	C	A	2: 12,200,163	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,496,288	A134V	probably benign	Het
Kif18a	T	A	2: 109,298,403	C406S	probably benign	Het
Klhl28	A	T	12: 64,951,819	S300R	probably damaging	Het
Kmt2e	C	T	5: 23,482,453	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,496,185	T222A	probably benign	Het
Lipn	G	A	19: 34,080,710	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,568,774	R177Q	possibly damaging	Het
Lrrc74a	G	A	12: 86,741,026	E144K	probably damaging	Het
Mal	T	C	2: 127,635,044	Y77C	probably benign	Het
Map1a	T	A	2: 121,302,655	C1079*	probably null	Het
Mbd5	T	A	2: 49,256,218	S147T	possibly damaging	Het
Nsd2	T	A	5: 33,861,149	M509K	probably benign	Het
Olfr1342	C	T	4: 118,689,948	R168H	probably benign	Het
Olfr262	C	T	19: 12,240,831	V277I	probably benign	Het
Olfr414	T	C	1: 174,431,097	V223A	probably benign	Het
Olfr51	T	C	11: 51,007,637	F222L	probably benign	Het
Rcor2	C	T	19: 7,270,181	L45F	probably damaging	Het
Rpl12	T	A	2: 32,963,525	D107E	probably benign	Het
Rpl7l1	A	T	17: 46,778,191	F205I	probably damaging	Het
Samd4b	C	T	7: 28,414,010	G177R	probably damaging	Het
Sema4a	A	T	3: 88,454,766	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,338,074	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Syt14	T	C	1: 192,897,482	D781G	probably damaging	Het
Tprn	T	G	2: 25,264,409	D574E	probably benign	Het
Trim75	T	A	8: 64,982,511	E429V	probably damaging	Het
Trit1	C	T	4: 123,054,236	R450C	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Unc13c	A	G	9: 73,639,050		probably null	Het
Usp49	C	A	17: 47,673,410	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,431,952	C88R	probably benign	Het
Zfp94	T	A	7: 24,302,834	K394N	probably damaging	Het

Other mutations in Barhl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Barhl1	APN	2	28915546	missense	probably benign	0.03
IGL02337:Barhl1	APN	2	28911419	missense	probably damaging	1.00
IGL03113:Barhl1	APN	2	28915456	missense	probably benign	0.03
R0449:Barhl1	UTSW	2	28915292	missense	probably benign	0.06
R1829:Barhl1	UTSW	2	28909845	missense	probably damaging	1.00
R3615:Barhl1	UTSW	2	28911550	missense	possibly damaging	0.75
R3616:Barhl1	UTSW	2	28911550	missense	possibly damaging	0.75
R4937:Barhl1	UTSW	2	28909773	missense	probably damaging	1.00
R5481:Barhl1	UTSW	2	28915340	missense	probably damaging	0.98
R6075:Barhl1	UTSW	2	28915219	missense	probably damaging	0.99
R6727:Barhl1	UTSW	2	28915483	missense	probably benign	0.01
R6728:Barhl1	UTSW	2	28915483	missense	probably benign	0.01
R7096:Barhl1	UTSW	2	28909714	missense	probably benign
R7123:Barhl1	UTSW	2	28909931	splice site	probably null
R7336:Barhl1	UTSW	2	28909843	missense	probably benign	0.40
R7339:Barhl1	UTSW	2	28909887	missense	probably damaging	1.00
R7584:Barhl1	UTSW	2	28909791	missense	probably damaging	0.99
R9070:Barhl1	UTSW	2	28915411	missense	probably benign	0.17
R9087:Barhl1	UTSW	2	28915219	missense	probably damaging	0.99
X0065:Barhl1	UTSW	2	28915339	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCCAGCTTGTCTCGAAAGTCCTC -3'
(R):5'- TTGCAGCTTGGCTATGGAAGGCTC -3'

Sequencing Primer
(F):5'- AGTCCTCCCCGGCCTTG -3'
(R):5'- CTTGGCTATGGAAGGCTCTAATG -3'

Posted On

2014-05-09