Mutagenetix > Incidental Mutations

Incidental Mutation 'R7749:Atoh1'

597090

Institutional Source

Beutler Lab

Gene Symbol

Atoh1

Ensembl Gene

ENSMUSG00000073043

Gene Name

atonal bHLH transcription factor 1

Synonyms

bHLHa14, Hath1, Math1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7749 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64729125-64731245 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64729920 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 200 (M200L)

Ref Sequence

ENSEMBL: ENSMUSP00000098903 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000101351
AA Change: M200L

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098903
Gene: ENSMUSG00000073043
AA Change: M200L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (66/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	A	T	1: 134,390,512	M341L	probably benign	Het
Actr1a	A	T	19: 46,379,747	S254T	probably benign	Het
Adam12	G	A	7: 134,224,813	A22V	unknown	Het
Adarb2	A	G	13: 8,569,739	D87G	possibly damaging	Het
Aldh6a1	A	T	12: 84,442,081	I59N	probably benign	Het
Ankrd50	C	T	3: 38,482,721	C161Y	probably damaging	Het
Ankrd7	A	G	6: 18,879,516		probably null	Het
Anks1	T	A	17: 28,038,141	I707N	probably damaging	Het
Bmp1	C	T	14: 70,492,844	R416H	probably damaging	Het
Caprin1	A	G	2: 103,771,754	S548P	probably benign	Het
Ccdc167	T	A	17: 29,705,273	Y63F	possibly damaging	Het
Cfap99	T	A	5: 34,307,940	D174E	probably benign	Het
Chil3	T	G	3: 106,148,845	N331T	probably benign	Het
Chmp5	T	A	4: 40,949,488	I35N	probably damaging	Het
Cpt1c	A	T	7: 44,962,265	S537T	probably benign	Het
Dctn1	A	T	6: 83,186,141		probably benign	Het
Dhx57	T	A	17: 80,238,858	M1366L	probably benign	Het
Dnah9	T	A	11: 65,911,830	Y3478F	probably damaging	Het
Efna3	A	G	3: 89,316,640	Y81H	probably damaging	Het
Eif4enif1	T	C	11: 3,242,608	V812A	probably damaging	Het
Erg	A	T	16: 95,377,357	I237N	probably benign	Het
Fem1c	G	T	18: 46,524,118	N176K	probably damaging	Het
Fgd4	T	C	16: 16,475,154	Y233C	probably benign	Het
Foxd2	G	A	4: 114,907,812	A337V	unknown	Het
Gsdma2	T	C	11: 98,657,721	L433P	unknown	Het
Hmcn2	C	A	2: 31,453,033		probably null	Het
Hnrnpul2	T	C	19: 8,820,424	V48A	probably benign	Het
Hsf1	T	A	15: 76,499,187	S396T	probably benign	Het
Htr5b	G	T	1: 121,527,758	N144K	probably damaging	Het
Igkv9-120	T	C	6: 68,050,188	S29P	probably damaging	Het
Igsf10	T	A	3: 59,329,128	N1211Y	possibly damaging	Het
Kcnh1	A	C	1: 192,277,139	I334L	probably benign	Het
Laptm4b	T	C	15: 34,276,200	I158T	probably benign	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nav3	T	C	10: 109,703,352	T2063A	probably damaging	Het
Nceh1	T	A	3: 27,207,382	D47E	probably benign	Het
Nckap5	A	G	1: 126,024,646	S1390P	probably damaging	Het
Npepps	T	G	11: 97,267,628	I104L	probably benign	Het
Numb	A	G	12: 83,801,277	S229P	not run	Het
Olfr1156	G	A	2: 87,949,478	H252Y	probably damaging	Het
Olfr1342	T	C	4: 118,690,228	S75G	probably damaging	Het
Olfr1443	A	T	19: 12,680,212	I35F	probably benign	Het
Opn1sw	T	A	6: 29,380,169	I83F	probably benign	Het
Pigg	T	G	5: 108,336,296	C603G	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkhd1l1	C	A	15: 44,527,737	H1504N	probably benign	Het
Plcd4	A	G	1: 74,565,133	N757D	possibly damaging	Het
Ppia	A	G	11: 6,419,569	T152A	probably benign	Het
Psmd8	G	A	7: 29,178,921		probably null	Het
Pxn	T	A	5: 115,548,516	Y356N	probably benign	Het
Rhoa	G	C	9: 108,336,715	C159S	probably damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rita1	C	T	5: 120,611,441	C69Y	probably benign	Het
Satb1	A	G	17: 51,767,933	S512P	possibly damaging	Het
Sectm1b	A	G	11: 121,054,942	I191T	possibly damaging	Het
Slc22a6	A	G	19: 8,621,896	K297R	possibly damaging	Het
Snrnp48	T	C	13: 38,221,287	Y287H	probably benign	Het
Sntg2	A	T	12: 30,226,911	C381S	probably benign	Het
Syngap1	T	A	17: 26,959,964	M649K	probably damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Thap2	T	C	10: 115,376,384	I79V	probably damaging	Het
Thap7	T	C	16: 17,528,603	N172S	probably benign	Het
Ticrr	A	G	7: 79,679,096	Y661C	possibly damaging	Het
Ttn	T	C	2: 76,776,315	N18084D	probably damaging	Het
Usp48	A	T	4: 137,650,417	K1020M	probably damaging	Het
Vmn2r12	T	C	5: 109,086,054	N764S	probably damaging	Het
Vmn2r91	A	G	17: 18,136,278	I736V	possibly damaging	Het
Wfdc6b	T	A	2: 164,617,419	C134S	probably damaging	Het
Zcchc2	A	T	1: 106,018,273	D481V	probably damaging	Het
Zfp949	G	A	9: 88,569,870	G498R	probably damaging	Het

Other mutations in Atoh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Atoh1	APN	6	64729584	missense	possibly damaging	0.54
IGL02126:Atoh1	APN	6	64729350	missense	probably damaging	1.00
R1354:Atoh1	UTSW	6	64729357	missense	possibly damaging	0.53
R1674:Atoh1	UTSW	6	64729930	missense	possibly damaging	0.88
R1675:Atoh1	UTSW	6	64730157	missense	probably benign	0.01
R1895:Atoh1	UTSW	6	64729459	missense	probably benign	0.01
R1946:Atoh1	UTSW	6	64729459	missense	probably benign	0.01
R1988:Atoh1	UTSW	6	64729633	missense	probably benign	0.04
R2566:Atoh1	UTSW	6	64729684	missense	probably damaging	1.00
R3730:Atoh1	UTSW	6	64729573	missense	probably benign	0.00
R3893:Atoh1	UTSW	6	64730133	missense	probably damaging	1.00
R4241:Atoh1	UTSW	6	64729774	missense	probably damaging	1.00
R7411:Atoh1	UTSW	6	64729930	missense	probably damaging	1.00
R8196:Atoh1	UTSW	6	64730242	missense	probably benign	0.00
R8289:Atoh1	UTSW	6	64729909	missense	probably damaging	1.00
R8410:Atoh1	UTSW	6	64729650	missense	probably benign
R8444:Atoh1	UTSW	6	64729657	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AAGTACGGGAACAGCTGTGC -3'
(R):5'- TGCCATCATCGCTGTTAGG -3'

Sequencing Primer
(F):5'- CTGTGCAAGCTGAAGGGTG -3'
(R):5'- ATCATCGCTGTTAGGGCCCTG -3'

Posted On

2019-11-26