Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03113:Barhl1'

419294

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Barhl1

Ensembl Gene

ENSMUSG00000026805

Gene Name

BarH like homeobox 1

Synonyms

MBH2, Dres115

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

IGL03113

Quality Score

Status

Chromosome

Chromosomal Location

28797691-28806680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28805468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 75 (D75G)

Ref Sequence

ENSEMBL: ENSMUSP00000109480 (fasta)

Gene Model

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

AlphaFold

P63157

Predicted Effect

probably benign
Transcript: ENSMUST00000050776
AA Change: D75G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000053147
Gene: ENSMUSG00000026805
AA Change: D75G

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: D75G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109478
Gene: ENSMUSG00000026805
AA Change: D75G

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: D75G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109480
Gene: ENSMUSG00000026805
AA Change: D75G

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apof	G	A	10: 128,105,568 (GRCm39)	V241M	probably benign	Het
Arhgef10	T	A	8: 15,004,505 (GRCm39)	I91N	probably damaging	Het
Arhgef17	G	A	7: 100,578,938 (GRCm39)	T670I	probably benign	Het
Capn13	T	C	17: 73,638,108 (GRCm39)	T432A	probably benign	Het
Casd1	T	A	6: 4,640,951 (GRCm39)	Y691N	probably damaging	Het
Ccdc175	C	A	12: 72,191,557 (GRCm39)	V340L	probably benign	Het
Cdc5l	A	T	17: 45,744,348 (GRCm39)	M5K	possibly damaging	Het
Cgn	A	G	3: 94,686,544 (GRCm39)	F253L	probably benign	Het
Csmd1	T	C	8: 16,078,712 (GRCm39)	K2003R	probably benign	Het
Disp2	T	A	2: 118,621,259 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,472,163 (GRCm39)	N3535D	possibly damaging	Het
Exoc3	G	A	13: 74,341,232 (GRCm39)	Q191*	probably null	Het
Fstl5	T	A	3: 76,337,099 (GRCm39)	Y219*	probably null	Het
Gad2	T	A	2: 22,571,367 (GRCm39)	L435Q	probably benign	Het
Gcnt3	A	G	9: 69,941,983 (GRCm39)	V195A	probably damaging	Het
Haus6	G	A	4: 86,501,343 (GRCm39)	Q843*	probably null	Het
Hivep2	T	A	10: 14,006,395 (GRCm39)	F998I	probably damaging	Het
Hsf5	A	T	11: 87,548,190 (GRCm39)	E624D	probably benign	Het
Klb	A	G	5: 65,540,813 (GRCm39)	N969D	probably benign	Het
Klhl6	T	A	16: 19,776,001 (GRCm39)	S186C	possibly damaging	Het
Klk15	T	C	7: 43,587,805 (GRCm39)	F78L	probably benign	Het
Ldlr	A	G	9: 21,651,124 (GRCm39)	E514G	possibly damaging	Het
Map9	T	A	3: 82,267,285 (GRCm39)		probably benign	Het
Miga2	A	T	2: 30,274,022 (GRCm39)	I99F	possibly damaging	Het
Morc4	T	C	X: 138,758,605 (GRCm39)	E189G	probably benign	Het
Nhlrc3	A	T	3: 53,365,984 (GRCm39)	Y170N	possibly damaging	Het
Or3a1b	G	A	11: 74,012,529 (GRCm39)	R138Q	probably benign	Het
Or4c111	A	G	2: 88,844,379 (GRCm39)	F10L	probably damaging	Het
Or51b6b	A	T	7: 103,309,851 (GRCm39)	V202D	possibly damaging	Het
Or52u1	A	T	7: 104,237,940 (GRCm39)	R310W	probably benign	Het
Or5o1	T	A	X: 48,815,939 (GRCm39)	N291Y	probably damaging	Het
Or5w15	T	C	2: 87,568,506 (GRCm39)	Q54R	probably benign	Het
Or8g32	A	C	9: 39,305,981 (GRCm39)	K295T	probably damaging	Het
Pkd1l1	G	A	11: 8,784,793 (GRCm39)	T1997I	probably benign	Het
Poln	A	G	5: 34,274,206 (GRCm39)	S377P	probably benign	Het
Rab22a	T	A	2: 173,503,265 (GRCm39)	V26E	probably damaging	Het
Rhbdl3	T	C	11: 80,244,439 (GRCm39)	V382A	possibly damaging	Het
Slitrk3	G	T	3: 72,957,723 (GRCm39)	Q350K	probably benign	Het
Sult1d1	A	T	5: 87,707,738 (GRCm39)	Y127*	probably null	Het
Vmn1r73	A	T	7: 11,490,527 (GRCm39)	Y115F	probably benign	Het
Zfp128	T	A	7: 12,624,314 (GRCm39)	D227E	probably benign	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
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
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

Posted On

2016-08-02