Incidental Mutation 'R1354:Atoh1'
ID |
156241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atoh1
|
Ensembl Gene |
ENSMUSG00000073043 |
Gene Name |
atonal bHLH transcription factor 1 |
Synonyms |
Math1, bHLHa14, Hath1 |
MMRRC Submission |
039419-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1354 (G1)
|
Quality Score |
182 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
64706109-64708229 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64706341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 12
(E12G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101351]
|
AlphaFold |
P48985 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101351
AA Change: E12G
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000098903 Gene: ENSMUSG00000073043 AA Change: E12G
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: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.3%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc183 |
T |
C |
2: 25,502,151 (GRCm39) |
N241S |
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,228,566 (GRCm39) |
T2174I |
possibly damaging |
Het |
Edem1 |
A |
G |
6: 108,831,277 (GRCm39) |
I579M |
possibly damaging |
Het |
Gimap9 |
A |
T |
6: 48,654,982 (GRCm39) |
M190L |
probably benign |
Het |
Glod4 |
A |
T |
11: 76,128,654 (GRCm39) |
|
probably null |
Het |
Ighv8-6 |
A |
T |
12: 115,129,700 (GRCm39) |
S19T |
probably damaging |
Het |
Lef1 |
C |
T |
3: 130,988,317 (GRCm39) |
P267S |
probably damaging |
Het |
Megf11 |
A |
G |
9: 64,560,459 (GRCm39) |
E335G |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,361,114 (GRCm39) |
N1475S |
probably damaging |
Het |
Ndst2 |
C |
A |
14: 20,775,043 (GRCm39) |
R749L |
possibly damaging |
Het |
Oas3 |
C |
A |
5: 120,908,065 (GRCm39) |
V292L |
possibly damaging |
Het |
Phactr1 |
A |
T |
13: 43,210,807 (GRCm39) |
I210F |
possibly damaging |
Het |
Plppr5 |
G |
A |
3: 117,369,496 (GRCm39) |
R51H |
possibly damaging |
Het |
Ppp1r12b |
G |
A |
1: 134,763,721 (GRCm39) |
T771M |
probably benign |
Het |
Rasgrf2 |
G |
A |
13: 92,165,174 (GRCm39) |
P331S |
probably damaging |
Het |
Rtl6 |
C |
T |
15: 84,440,728 (GRCm39) |
V223M |
probably damaging |
Het |
Tbc1d9 |
A |
C |
8: 83,995,610 (GRCm39) |
|
probably null |
Het |
Tgm3 |
T |
C |
2: 129,883,818 (GRCm39) |
I492T |
probably benign |
Het |
Trdv1 |
T |
A |
14: 54,119,375 (GRCm39) |
|
probably benign |
Het |
Wdr45b |
A |
T |
11: 121,226,256 (GRCm39) |
I191N |
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 |
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 |
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'- TCAGGAGTCGAATTACAGCCCCAC -3'
(R):5'- CTCGGGAGAATGCAGCAGATACTG -3'
Sequencing Primer
(F):5'- ttctttttttttttttttCCAGAGCC -3'
(R):5'- AGCAGATACTGGGCGGC -3'
|
Posted On |
2014-02-11 |