Mutagenetix > Incidental Mutation

Incidental Mutation 'R3893:Atoh1'

310039

Institutional Source

Beutler Lab

Gene Symbol

Atoh1

Ensembl Gene

ENSMUSG00000073043

Gene Name

atonal bHLH transcription factor 1

Synonyms

Math1, bHLHa14, Hath1

MMRRC Submission

040805-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3893 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

64706109-64708229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64707117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 271 (T271A)

Ref Sequence

ENSEMBL: ENSMUSP00000098903 (fasta)

Gene Model

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

AlphaFold

P48985

Predicted Effect

probably damaging
Transcript: ENSMUST00000101351
AA Change: T271A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098903
Gene: ENSMUSG00000073043
AA Change: T271A

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

0.0784

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (42/42)

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
2610303G11Rik	A	T	9: 98,068,864 (GRCm39)		noncoding transcript	Het
Adam19	C	T	11: 46,019,665 (GRCm39)	A455V	probably damaging	Het
Akr1c19	G	A	13: 4,288,441 (GRCm39)	D140N	probably damaging	Het
Atp6v0a2	G	A	5: 124,777,203 (GRCm39)	R168Q	probably damaging	Het
B930094E09Rik	G	A	18: 31,742,742 (GRCm39)	S59N	unknown	Het
Cadps	A	G	14: 12,488,883 (GRCm38)		probably benign	Het
Cfap69	A	T	5: 5,631,245 (GRCm39)	V61E	probably damaging	Het
Chd5	A	G	4: 152,445,113 (GRCm39)	R365G	probably damaging	Het
Cracdl	T	A	1: 37,670,539 (GRCm39)	M134L	probably benign	Het
Cyria	T	C	12: 12,412,526 (GRCm39)	V232A	probably benign	Het
Dnajc18	A	T	18: 35,834,048 (GRCm39)		probably null	Het
Fmnl1	T	A	11: 103,087,583 (GRCm39)		probably benign	Het
Gca	A	G	2: 62,509,564 (GRCm39)	Y89C	probably damaging	Het
Gcnt2	A	G	13: 41,013,922 (GRCm39)	Y31C	probably benign	Het
Gem	C	T	4: 11,705,889 (GRCm39)		probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gpc5	T	C	14: 115,607,472 (GRCm39)	M358T	probably benign	Het
Gprin3	T	C	6: 59,331,464 (GRCm39)	Y281C	probably benign	Het
H2-M11	A	G	17: 36,857,982 (GRCm39)	T6A	probably benign	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Lrrk1	T	C	7: 65,928,268 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,380,199 (GRCm39)	Y1298H	probably damaging	Het
Micu3	C	T	8: 40,819,265 (GRCm39)	L315F	probably damaging	Het
Pkd1	G	A	17: 24,791,084 (GRCm39)		probably null	Het
Pkhd1	A	T	1: 20,382,362 (GRCm39)	Y2596*	probably null	Het
Pnliprp2	A	G	19: 58,754,705 (GRCm39)	S250G	probably benign	Het
Prkcq	A	C	2: 11,231,782 (GRCm39)	E35A	probably damaging	Het
Prpf8	C	A	11: 75,391,083 (GRCm39)	S1377R	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rsbn1l	C	T	5: 21,110,838 (GRCm39)	R500H	probably damaging	Het
Sart3	C	T	5: 113,884,697 (GRCm39)	E636K	probably benign	Het
Skint3	A	G	4: 112,111,115 (GRCm39)	K80R	probably damaging	Het
Slc11a1	G	A	1: 74,423,865 (GRCm39)	A398T	probably damaging	Het
Sspo	G	T	6: 48,453,505 (GRCm39)	E2887*	probably null	Het
Tmc5	A	C	7: 118,244,592 (GRCm39)	Y490S	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tnfsf8	G	T	4: 63,779,196 (GRCm39)	T34K	possibly damaging	Het
Trim5	T	A	7: 103,926,042 (GRCm39)	N173I	probably damaging	Het
Vkorc1l1	A	T	5: 130,011,112 (GRCm39)	I109L	probably benign	Het
Vmn1r214	A	G	13: 23,218,811 (GRCm39)	T102A	probably benign	Het
Wdr19	A	G	5: 65,385,635 (GRCm39)	D579G	possibly damaging	Het
Zc3h6	A	G	2: 128,858,060 (GRCm39)	Y697C	probably damaging	Het
Zfp955b	T	C	17: 33,521,968 (GRCm39)	I479T	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
R4241:Atoh1	UTSW	6	64,706,758 (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'- TCTACATCAACGCTCTGTCGG -3'
(R):5'- TCCGTCACTTCTGTGGGATC -3'

Sequencing Primer
(F):5'- AGTTGCTGCAGACTCCCAATG -3'
(R):5'- CACTTCTGTGGGATCTGGGAG -3'

Posted On

2015-04-17