Mutagenetix > Incidental Mutation

Incidental Mutation 'R9070:Barhl1'

689473

Institutional Source

Beutler Lab

Gene Symbol

Barhl1

Ensembl Gene

ENSMUSG00000026805

Gene Name

BarH like homeobox 1

Synonyms

MBH2, Dres115

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9070 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28797691-28806680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28805423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 90 (R90L)

Ref Sequence

ENSEMBL: ENSMUSP00000053147 (fasta)

Gene Model

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

AlphaFold

P63157

Predicted Effect

probably benign
Transcript: ENSMUST00000050776
AA Change: R90L

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000053147
Gene: ENSMUSG00000026805
AA Change: R90L

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: ENSMUST00000113847
AA Change: R90L

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109478
Gene: ENSMUSG00000026805
AA Change: R90L

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: ENSMUST00000113849
AA Change: R90L

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109480
Gene: ENSMUSG00000026805
AA Change: R90L

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

Coding Region Coverage

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

Validation Efficiency

100% (45/45)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	T	C	16: 35,100,770 (GRCm39)	L774P	probably damaging	Het
Aldh2	T	C	5: 121,707,032 (GRCm39)	E495G	probably damaging	Het
Als2cl	T	C	9: 110,718,288 (GRCm39)	V343A	probably benign	Het
Antxrl	T	A	14: 33,793,671 (GRCm39)	C466*	probably null	Het
Aoc1l3	A	G	6: 48,965,329 (GRCm39)	N446D	possibly damaging	Het
Arc	A	G	15: 74,543,833 (GRCm39)	L130P	probably damaging	Het
Baz2a	A	G	10: 127,958,931 (GRCm39)	M1149V	probably benign	Het
Bsn	G	A	9: 107,987,295 (GRCm39)	S106L		Het
Calu	A	G	6: 29,356,567 (GRCm39)	E31G	probably benign	Het
Cdh23	T	G	10: 60,173,539 (GRCm39)	I1650L	probably benign	Het
Ceacam9	T	C	7: 16,457,787 (GRCm39)	V100A	possibly damaging	Het
Dnaaf9	A	T	2: 130,654,793 (GRCm39)	S159R	possibly damaging	Het
Dpyd	T	G	3: 118,792,892 (GRCm39)	I533S	probably damaging	Het
Fam184a	T	C	10: 53,514,373 (GRCm39)	D1016G	possibly damaging	Het
Fv1	T	A	4: 147,954,414 (GRCm39)	W327R	probably damaging	Het
Gbp7	A	G	3: 142,249,762 (GRCm39)	D411G	probably benign	Het
Gldc	A	T	19: 30,080,404 (GRCm39)	D885E	probably damaging	Het
H4c3	A	G	13: 23,882,170 (GRCm39)	V88A	probably damaging	Het
Hdgfl2	T	C	17: 56,389,371 (GRCm39)	W82R	possibly damaging	Het
Hif1an	A	G	19: 44,551,458 (GRCm39)	S48G	probably benign	Het
Itgal	C	T	7: 126,927,873 (GRCm39)	R1023W	probably null	Het
Kif13a	C	A	13: 46,905,934 (GRCm39)	A1618S	probably benign	Het
Lrrc57	A	G	2: 120,436,565 (GRCm39)	L181P	probably damaging	Het
Mptx2	T	A	1: 173,102,119 (GRCm39)	D190V	probably benign	Het
Mroh5	A	G	15: 73,656,688 (GRCm39)	F590L	probably damaging	Het
Net1	A	G	13: 3,936,103 (GRCm39)	I381T	probably damaging	Het
Nipbl	T	A	15: 8,368,215 (GRCm39)	K1169I	possibly damaging	Het
Nop9	G	A	14: 55,990,757 (GRCm39)	R563H	probably damaging	Het
Obscn	A	T	11: 59,013,457 (GRCm39)	L1130Q	probably damaging	Het
Or1j13	A	T	2: 36,369,268 (GRCm39)	S291R	probably damaging	Het
Or2b2b	A	T	13: 21,858,985 (GRCm39)	M43K	probably benign	Het
Pcgf1	T	A	6: 83,057,076 (GRCm39)	H202Q	probably damaging	Het
Pcnx3	A	G	19: 5,715,601 (GRCm39)	L1883P	probably benign	Het
Pde4b	T	C	4: 102,458,994 (GRCm39)	S505P	probably damaging	Het
Pitpnm2	C	A	5: 124,259,375 (GRCm39)	R1320L	probably damaging	Het
Plscr4	C	A	9: 92,372,281 (GRCm39)		probably benign	Het
Pot1a	C	T	6: 25,744,629 (GRCm39)	R625Q		Het
Pou4f1	A	G	14: 104,704,067 (GRCm39)	S122P	probably damaging	Het
Ppl	A	G	16: 4,907,208 (GRCm39)	V1029A	probably benign	Het
Prex1	A	G	2: 166,427,707 (GRCm39)	F982L	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Rbks	A	G	5: 31,854,890 (GRCm39)	V19A	probably benign	Het
Rps18-ps5	A	G	13: 28,441,902 (GRCm39)	Y95C	probably benign	Het
Rps20	A	T	4: 3,835,280 (GRCm39)	D5E	probably benign	Het
Sacs	C	A	14: 61,447,751 (GRCm39)	P3266T	probably benign	Het
Septin7	A	G	9: 25,175,507 (GRCm39)		probably benign	Het
Slc28a2b	A	G	2: 122,352,154 (GRCm39)	T331A	probably damaging	Het
Tasor	T	C	14: 27,194,484 (GRCm39)	V1228A	probably benign	Het
Trdv5	T	C	14: 54,386,258 (GRCm39)	D69G	probably damaging	Het
Treml4	G	T	17: 48,576,781 (GRCm39)	G180C	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
R7123:Barhl1	UTSW	2	28,799,943 (GRCm39)	splice site	probably null
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
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'- AGCGCTGCTGACACTTTTG -3'
(R):5'- AATGGCTTTGGGATTGACTCC -3'

Sequencing Primer
(F):5'- TGTCCAGCTTGTCTCGAAAG -3'
(R):5'- TTGGGGACTGCCGTTCAC -3'

Posted On

2021-11-19