Mutagenetix > Incidental Mutation

Incidental Mutation 'R7411:Atoh1'

575071

Institutional Source

Beutler Lab

Gene Symbol

Atoh1

Ensembl Gene

ENSMUSG00000073043

Gene Name

atonal bHLH transcription factor 1

Synonyms

bHLHa14, Hath1, Math1

MMRRC Submission

045492-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64729125-64731245 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64729930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 203 (I203N)

Ref Sequence

ENSEMBL: ENSMUSP00000098903 (fasta)

Gene Model

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

AlphaFold

P48985

Predicted Effect

probably damaging
Transcript: ENSMUST00000101351
AA Change: I203N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098903
Gene: ENSMUSG00000073043
AA Change: I203N

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: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,717,241 (GRCm38)	T276I	possibly damaging	Het
9130011E15Rik	A	C	19: 45,965,435 (GRCm38)	V170G	probably benign	Het
Abca17	A	G	17: 24,328,569 (GRCm38)	I277T	possibly damaging	Het
Abcb11	C	T	2: 69,303,936 (GRCm38)		probably null	Het
Abcc12	C	A	8: 86,560,850 (GRCm38)	R122L	possibly damaging	Het
Abcc8	A	G	7: 46,165,917 (GRCm38)		probably null	Het
Adam28	C	T	14: 68,626,947 (GRCm38)	R469K	probably damaging	Het
Adamts18	T	C	8: 113,777,730 (GRCm38)	Y243C	probably damaging	Het
Agbl3	T	C	6: 34,814,819 (GRCm38)	S619P	probably damaging	Het
Alpk3	A	T	7: 81,092,852 (GRCm38)	T806S	probably benign	Het
Cables1	A	G	18: 11,840,515 (GRCm38)	E237G	probably benign	Het
Cacna1d	A	G	14: 30,352,990 (GRCm38)	M1T	probably null	Het
Ccdc91	C	T	6: 147,592,198 (GRCm38)	Q363*	probably null	Het
Ceacam5	T	A	7: 17,750,753 (GRCm38)	D473E	probably damaging	Het
Cfap54	T	A	10: 92,868,755 (GRCm38)	D2821V	unknown	Het
Clca3a2	A	G	3: 144,802,099 (GRCm38)	S737P	probably damaging	Het
Clec4n	T	A	6: 123,232,186 (GRCm38)	M70K	probably benign	Het
Dstyk	G	A	1: 132,417,666 (GRCm38)	G21S	probably benign	Het
Enpp5	A	G	17: 44,081,475 (GRCm38)	D265G	probably damaging	Het
Gabrb1	T	C	5: 72,122,195 (GRCm38)		probably null	Het
Gm11639	T	G	11: 104,999,723 (GRCm38)	N4210K	probably benign	Het
Gm28710	A	T	5: 16,824,765 (GRCm38)	T500S	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817 (GRCm38)		probably benign	Het
Gm5861	T	A	5: 11,183,149 (GRCm38)		probably null	Het
Gm9513	T	C	9: 36,475,684 (GRCm38)	V16A	possibly damaging	Het
Guk1	A	G	11: 59,185,985 (GRCm38)	F91L		Het
Ints1	C	T	5: 139,764,260 (GRCm38)	E961K	possibly damaging	Het
Irx2	T	A	13: 72,629,063 (GRCm38)	M1K	probably null	Het
Jrk	C	T	15: 74,707,199 (GRCm38)	R79H	possibly damaging	Het
Kcnu1	G	T	8: 25,892,088 (GRCm38)	V489L	probably damaging	Het
Kctd7	C	T	5: 130,152,424 (GRCm38)	T209M	probably benign	Het
Kdm5a	T	A	6: 120,426,815 (GRCm38)	V1127E	probably damaging	Het
Klk6	A	G	7: 43,826,943 (GRCm38)	H69R	probably damaging	Het
Lck	T	C	4: 129,551,970 (GRCm38)	K340R	probably benign	Het
Lrrc75a	A	G	11: 62,605,908 (GRCm38)	L276P	probably damaging	Het
Med25	A	G	7: 44,878,243 (GRCm38)	W730R	probably damaging	Het
Muc4	T	C	16: 32,751,322 (GRCm38)	V400A	probably benign	Het
Myl10	G	C	5: 136,697,971 (GRCm38)	V70L	probably benign	Het
Myt1	C	A	2: 181,815,106 (GRCm38)	H906Q	probably damaging	Het
Ncl	A	T	1: 86,350,842 (GRCm38)	F673I	probably damaging	Het
Nfe2l1	G	T	11: 96,822,183 (GRCm38)	T216N	probably benign	Het
Nos2	G	A	11: 78,944,855 (GRCm38)		probably null	Het
Nphp4	T	A	4: 152,554,717 (GRCm38)	I935N	probably benign	Het
Ntn1	G	A	11: 68,386,089 (GRCm38)	A11V	probably benign	Het
Olfr1257	T	C	2: 89,881,261 (GRCm38)	V145A	probably damaging	Het
Olfr1395	A	T	11: 49,148,994 (GRCm38)	M246L	probably benign	Het
Pcdha12	A	G	18: 37,021,608 (GRCm38)	Y460C	probably damaging	Het
Pcdha4	G	T	18: 36,953,058 (GRCm38)	R98L	probably benign	Het
Pitpnc1	A	G	11: 107,212,572 (GRCm38)	S234P	probably damaging	Het
Pmfbp1	A	T	8: 109,513,871 (GRCm38)	Y195F	probably damaging	Het
Prl6a1	T	C	13: 27,318,142 (GRCm38)	I164T	probably damaging	Het
Ptpn18	G	A	1: 34,472,192 (GRCm38)		probably null	Het
Rhbdl2	G	A	4: 123,829,642 (GRCm38)	A280T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932 (GRCm38)		probably benign	Het
Sema3a	T	G	5: 13,516,263 (GRCm38)	Y171*	probably null	Het
Set	A	G	2: 30,066,885 (GRCm38)	E22G	probably benign	Het
Sirpb1b	A	T	3: 15,542,997 (GRCm38)	D229E	probably benign	Het
Slc12a2	A	T	18: 57,941,013 (GRCm38)	I1096F	probably benign	Het
Slc30a5	T	C	13: 100,818,180 (GRCm38)	I159V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,038 (GRCm38)		probably benign	Het
Slc6a20b	A	G	9: 123,604,948 (GRCm38)	I275T	probably benign	Het
Stradb	A	C	1: 58,988,518 (GRCm38)	D69A	possibly damaging	Het
Supt16	A	T	14: 52,178,051 (GRCm38)	V409E	probably damaging	Het
Tcea2	A	G	2: 181,686,664 (GRCm38)	N195S	probably damaging	Het
Thumpd3	T	C	6: 113,056,111 (GRCm38)	V270A	possibly damaging	Het
Urgcp	T	A	11: 5,718,116 (GRCm38)	H117L	probably benign	Het
Vps13c	T	A	9: 67,972,001 (GRCm38)	M3408K	probably damaging	Het
Wdfy4	A	C	14: 33,106,131 (GRCm38)	M1078R		Het
Wdr63	A	G	3: 146,097,145 (GRCm38)	V97A	probably damaging	Het
Ypel5	G	A	17: 72,846,444 (GRCm38)		probably null	Het

Other mutations in Atoh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Atoh1	APN	6	64,729,584 (GRCm38)	missense	possibly damaging	0.54
IGL02126:Atoh1	APN	6	64,729,350 (GRCm38)	missense	probably damaging	1.00
R1354:Atoh1	UTSW	6	64,729,357 (GRCm38)	missense	possibly damaging	0.53
R1674:Atoh1	UTSW	6	64,729,930 (GRCm38)	missense	possibly damaging	0.88
R1675:Atoh1	UTSW	6	64,730,157 (GRCm38)	missense	probably benign	0.01
R1895:Atoh1	UTSW	6	64,729,459 (GRCm38)	missense	probably benign	0.01
R1946:Atoh1	UTSW	6	64,729,459 (GRCm38)	missense	probably benign	0.01
R1988:Atoh1	UTSW	6	64,729,633 (GRCm38)	missense	probably benign	0.04
R2566:Atoh1	UTSW	6	64,729,684 (GRCm38)	missense	probably damaging	1.00
R3730:Atoh1	UTSW	6	64,729,573 (GRCm38)	missense	probably benign	0.00
R3893:Atoh1	UTSW	6	64,730,133 (GRCm38)	missense	probably damaging	1.00
R4241:Atoh1	UTSW	6	64,729,774 (GRCm38)	missense	probably damaging	1.00
R7749:Atoh1	UTSW	6	64,729,920 (GRCm38)	missense	possibly damaging	0.89
R8196:Atoh1	UTSW	6	64,730,242 (GRCm38)	missense	probably benign	0.00
R8289:Atoh1	UTSW	6	64,729,909 (GRCm38)	missense	probably damaging	1.00
R8410:Atoh1	UTSW	6	64,729,650 (GRCm38)	missense	probably benign
R8444:Atoh1	UTSW	6	64,729,657 (GRCm38)	missense	probably benign	0.13
R8744:Atoh1	UTSW	6	64,729,918 (GRCm38)	missense	probably damaging	0.97
R8854:Atoh1	UTSW	6	64,729,205 (GRCm38)	start gained	probably benign
R8918:Atoh1	UTSW	6	64,730,257 (GRCm38)	missense	probably damaging	1.00
R9206:Atoh1	UTSW	6	64,729,729 (GRCm38)	missense	probably benign	0.13
Z1191:Atoh1	UTSW	6	64,729,380 (GRCm38)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TACGGGAACAGCTGTGCAAG -3'
(R):5'- TGTGCCATCATCGCTGTTAGG -3'

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

Posted On

2019-10-07