Mutagenetix > Incidental Mutation

Incidental Mutation 'R4241:Atoh1'

320211

Institutional Source

Beutler Lab

Gene Symbol

Atoh1

Ensembl Gene

ENSMUSG00000073043

Gene Name

atonal bHLH transcription factor 1

Synonyms

Math1, bHLHa14, Hath1

MMRRC Submission

041058-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4241 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64706109-64708229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 64706758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 151 (N151T)

Ref Sequence

ENSEMBL: ENSMUSP00000098903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101351]

AlphaFold

P48985

Predicted Effect

probably damaging
Transcript: ENSMUST00000101351
AA Change: N151T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098903
Gene: ENSMUSG00000073043
AA Change: N151T

Domain	Start	End	E-Value	Type
low complexity region	19	41	N/A	INTRINSIC
HLH	162	214	1.1e-20	SMART
low complexity region	243	268	N/A	INTRINSIC

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (49/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a decreased cerebellum without folia, and lack cerebellar granule neurons, inner-ear hair cells, D1 interneurons, and goblet, enteroendocrine, and Paneth cells. Mutants fail to breathe properly and die at birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,548,497 (GRCm39)		probably benign	Het
Ap5b1	C	T	19: 5,618,825 (GRCm39)	L82F	possibly damaging	Het
Arfgef3	A	G	10: 18,500,912 (GRCm39)	S1113P	probably damaging	Het
Bcas3	T	A	11: 85,361,652 (GRCm39)	S25R	probably damaging	Het
Blcap	T	A	2: 157,402,343 (GRCm39)		probably benign	Het
Btbd6	C	T	12: 112,940,416 (GRCm39)	A13V	probably benign	Het
Ccdc83	A	C	7: 89,896,346 (GRCm39)	N74K	probably damaging	Het
Cdh9	A	G	15: 16,849,165 (GRCm39)		probably null	Het
Chd1	C	T	17: 15,990,289 (GRCm39)	R1614*	probably null	Het
Col16a1	G	T	4: 129,992,843 (GRCm39)	Q1567H	probably damaging	Het
Coq6	A	T	12: 84,420,563 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,737,611 (GRCm39)	D61G	probably benign	Het
Csnk1e	A	G	15: 79,309,095 (GRCm39)	F277S	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,663,787 (GRCm39)		noncoding transcript	Het
Dbt	T	C	3: 116,326,945 (GRCm39)	I98T	probably damaging	Het
Eif3e	G	A	15: 43,126,086 (GRCm39)	T287I	probably damaging	Het
Fcgbpl1	A	G	7: 27,853,760 (GRCm39)	S1575G	probably damaging	Het
Gm7135	A	G	1: 97,281,678 (GRCm39)		noncoding transcript	Het
Gpr176	A	T	2: 118,110,091 (GRCm39)	S389R	probably benign	Het
Hax1	A	G	3: 89,902,997 (GRCm39)	S257P	probably damaging	Het
Herc1	CTGAGGACTCTTTG	CTG	9: 66,355,630 (GRCm39)		probably null	Het
Ighv1-53	C	T	12: 115,122,442 (GRCm39)	C5Y	probably benign	Het
Klhl13	T	A	X: 23,181,414 (GRCm39)	D2V	probably damaging	Het
Kynu	A	T	2: 43,571,422 (GRCm39)	H446L	probably benign	Het
Lingo1	A	G	9: 56,527,386 (GRCm39)	F401S	probably damaging	Het
Lmbrd1	C	T	1: 24,732,049 (GRCm39)	Q89*	probably null	Het
Mov10	T	A	3: 104,704,592 (GRCm39)	Q773L	probably benign	Het
Or52e19	G	T	7: 102,959,868 (GRCm39)	*313Y	probably null	Het
Or7c70	T	A	10: 78,683,739 (GRCm39)	R3S	probably benign	Het
Pde6c	G	A	19: 38,151,293 (GRCm39)	G608S	probably damaging	Het
Peli3	T	C	19: 4,982,426 (GRCm39)	H413R	probably damaging	Het
Pkdrej	C	T	15: 85,702,345 (GRCm39)	R1197Q	probably damaging	Het
Rcan2	T	A	17: 44,264,370 (GRCm39)	V10D	probably benign	Het
Slc10a5	A	G	3: 10,400,520 (GRCm39)	S47P	probably damaging	Het
Sprr3	A	G	3: 92,364,214 (GRCm39)	V210A	possibly damaging	Het
Tcerg1l	G	T	7: 137,999,361 (GRCm39)	Q8K	unknown	Het
Ubfd1	T	C	7: 121,670,977 (GRCm39)	V265A	possibly damaging	Het
Ubr1	T	C	2: 120,764,867 (GRCm39)	D529G	possibly damaging	Het
Vmn1r180	A	T	7: 23,652,298 (GRCm39)	I154F	probably damaging	Het
Vmn1r237	A	G	17: 21,534,925 (GRCm39)	H216R	possibly damaging	Het
Whrn	C	T	4: 63,351,210 (GRCm39)		probably benign	Het
Zfr	T	G	15: 12,149,745 (GRCm39)	D388E	probably damaging	Het
Zic5	T	C	14: 122,702,075 (GRCm39)	I219V	probably benign	Het
Zmat5	A	G	11: 4,678,614 (GRCm39)	N53D	probably benign	Het

Other mutations in Atoh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Atoh1	APN	6	64,706,568 (GRCm39)	missense	possibly damaging	0.54
IGL02126:Atoh1	APN	6	64,706,334 (GRCm39)	missense	probably damaging	1.00
R1354:Atoh1	UTSW	6	64,706,341 (GRCm39)	missense	possibly damaging	0.53
R1674:Atoh1	UTSW	6	64,706,914 (GRCm39)	missense	possibly damaging	0.88
R1675:Atoh1	UTSW	6	64,707,141 (GRCm39)	missense	probably benign	0.01
R1895:Atoh1	UTSW	6	64,706,443 (GRCm39)	missense	probably benign	0.01
R1946:Atoh1	UTSW	6	64,706,443 (GRCm39)	missense	probably benign	0.01
R1988:Atoh1	UTSW	6	64,706,617 (GRCm39)	missense	probably benign	0.04
R2566:Atoh1	UTSW	6	64,706,668 (GRCm39)	missense	probably damaging	1.00
R3730:Atoh1	UTSW	6	64,706,557 (GRCm39)	missense	probably benign	0.00
R3893:Atoh1	UTSW	6	64,707,117 (GRCm39)	missense	probably damaging	1.00
R7411:Atoh1	UTSW	6	64,706,914 (GRCm39)	missense	probably damaging	1.00
R7749:Atoh1	UTSW	6	64,706,904 (GRCm39)	missense	possibly damaging	0.89
R8196:Atoh1	UTSW	6	64,707,226 (GRCm39)	missense	probably benign	0.00
R8289:Atoh1	UTSW	6	64,706,893 (GRCm39)	missense	probably damaging	1.00
R8410:Atoh1	UTSW	6	64,706,634 (GRCm39)	missense	probably benign
R8444:Atoh1	UTSW	6	64,706,641 (GRCm39)	missense	probably benign	0.13
R8744:Atoh1	UTSW	6	64,706,902 (GRCm39)	missense	probably damaging	0.97
R8854:Atoh1	UTSW	6	64,706,189 (GRCm39)	start gained	probably benign
R8918:Atoh1	UTSW	6	64,707,241 (GRCm39)	missense	probably damaging	1.00
R9206:Atoh1	UTSW	6	64,706,713 (GRCm39)	missense	probably benign	0.13
Z1191:Atoh1	UTSW	6	64,706,364 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GCCCAGTATCTGCTGCATTC -3'
(R):5'- CCGACAGAGCGTTGATGTAG -3'

Sequencing Primer
(F):5'- AGTATCTGCTGCATTCTCCCGAG -3'
(R):5'- AGATCTGGGCCATCTGTAGG -3'

Posted On

2015-06-12