Mutagenetix > Incidental Mutation

Incidental Mutation 'R1675:Atoh1'

187997

Institutional Source

Beutler Lab

Gene Symbol

Atoh1

Ensembl Gene

ENSMUSG00000073043

Gene Name

atonal bHLH transcription factor 1

Synonyms

Math1, bHLHa14, Hath1

MMRRC Submission

039711-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1675 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

64706109-64708229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64707141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 279 (S279P)

Ref Sequence

ENSEMBL: ENSMUSP00000098903 (fasta)

Gene Model

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

AlphaFold

P48985

Predicted Effect

probably benign
Transcript: ENSMUST00000101351
AA Change: S279P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000098903
Gene: ENSMUSG00000073043
AA Change: S279P

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

Coding Region Coverage

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

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,302,570 (GRCm39)		probably null	Het
Adam6b	T	C	12: 113,454,664 (GRCm39)	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 26,972,497 (GRCm39)		probably null	Het
Anapc2	G	A	2: 25,162,651 (GRCm39)	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,802,211 (GRCm39)	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,638,518 (GRCm39)	A1111V	possibly damaging	Het
Atp10b	A	G	11: 43,116,475 (GRCm39)	T941A	probably damaging	Het
Barhl1	C	T	2: 28,805,423 (GRCm39)	R90Q	possibly damaging	Het
Calr3	T	C	8: 73,185,302 (GRCm39)	D91G	probably damaging	Het
Ccdc148	T	C	2: 58,870,566 (GRCm39)	D317G	probably damaging	Het
Cnn3	C	T	3: 121,250,818 (GRCm39)	Q19*	probably null	Het
Cul5	T	C	9: 53,557,983 (GRCm39)	D207G	probably benign	Het
Cyp4x1	T	C	4: 114,984,757 (GRCm39)	E41G	possibly damaging	Het
Dagla	T	A	19: 10,246,687 (GRCm39)	M138L	probably benign	Het
Dnah6	A	T	6: 73,106,523 (GRCm39)	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,165,686 (GRCm39)	S88T	probably benign	Het
Eno3	T	C	11: 70,549,492 (GRCm39)		probably null	Het
Erbb3	C	A	10: 128,407,073 (GRCm39)	S1029I	probably damaging	Het
Erbin	C	A	13: 103,977,686 (GRCm39)	V624L	probably damaging	Het
Fam170b	C	T	14: 32,557,359 (GRCm39)	Q65*	probably null	Het
Gin1	T	A	1: 97,713,780 (GRCm39)	L360*	probably null	Het
Gldc	A	T	19: 30,120,853 (GRCm39)	D359E	probably damaging	Het
Gpr107	A	T	2: 31,057,063 (GRCm39)	T52S	possibly damaging	Het
Hip1r	A	G	5: 124,132,883 (GRCm39)	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,268,631 (GRCm39)	L1004P	probably damaging	Het
Hspa1l	A	G	17: 35,196,419 (GRCm39)	N153D	probably damaging	Het
Itga8	C	A	2: 12,204,974 (GRCm39)	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,462,547 (GRCm39)	A134V	probably benign	Het
Kif18a	T	A	2: 109,128,748 (GRCm39)	C406S	probably benign	Het
Klhl28	A	T	12: 64,998,593 (GRCm39)	S300R	probably damaging	Het
Kmt2e	C	T	5: 23,687,451 (GRCm39)	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,372,281 (GRCm39)	T222A	probably benign	Het
Lipn	G	A	19: 34,058,110 (GRCm39)	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,545,708 (GRCm39)	R177Q	possibly damaging	Het
Lrrc74a	G	A	12: 86,787,800 (GRCm39)	E144K	probably damaging	Het
Mal	T	C	2: 127,476,964 (GRCm39)	Y77C	probably benign	Het
Map1a	T	A	2: 121,133,136 (GRCm39)	C1079*	probably null	Het
Mbd5	T	A	2: 49,146,230 (GRCm39)	S147T	possibly damaging	Het
Nsd2	T	A	5: 34,018,493 (GRCm39)	M509K	probably benign	Het
Or13p4	C	T	4: 118,547,145 (GRCm39)	R168H	probably benign	Het
Or1ad8	T	C	11: 50,898,464 (GRCm39)	F222L	probably benign	Het
Or5an1c	C	T	19: 12,218,195 (GRCm39)	V277I	probably benign	Het
Or6p1	T	C	1: 174,258,663 (GRCm39)	V223A	probably benign	Het
Rcor2	C	T	19: 7,247,546 (GRCm39)	L45F	probably damaging	Het
Rpl12	T	A	2: 32,853,537 (GRCm39)	D107E	probably benign	Het
Rpl7l1	A	T	17: 47,089,117 (GRCm39)	F205I	probably damaging	Het
Samd4b	C	T	7: 28,113,435 (GRCm39)	G177R	probably damaging	Het
Sema4a	A	T	3: 88,362,073 (GRCm39)	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,557,048 (GRCm39)	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Syt14	T	C	1: 192,579,790 (GRCm39)	D781G	probably damaging	Het
Tasor2	T	C	13: 3,619,507 (GRCm39)	I2241M	possibly damaging	Het
Tprn	T	G	2: 25,154,421 (GRCm39)	D574E	probably benign	Het
Trim75	T	A	8: 65,435,163 (GRCm39)	E429V	probably damaging	Het
Trit1	C	T	4: 122,948,029 (GRCm39)	R450C	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Unc13c	A	G	9: 73,546,332 (GRCm39)		probably null	Het
Usp49	C	A	17: 47,984,335 (GRCm39)	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,408,937 (GRCm39)	C88R	probably benign	Het
Zfp94	T	A	7: 24,002,259 (GRCm39)	K394N	probably damaging	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
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
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'- AGACTCCCAATGTCGGAGAGCAAC -3'
(R):5'- TCCTAACTGGCCTCATCAGAGTCAC -3'

Sequencing Primer
(F):5'- CAGCTTCCTGCAAAAATGACCA -3'
(R):5'- GCCTCATCAGAGTCACTGTAATG -3'

Posted On

2014-05-09