Incidental Mutation 'R2317:Neurod6'
| ID |
245522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neurod6
|
| Ensembl Gene |
ENSMUSG00000037984 |
| Gene Name |
neurogenic differentiation 6 |
| Synonyms |
Atoh2, Math-2, Math2, bHLHa2, Nex1m, Nex |
| MMRRC Submission |
040312-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2317 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
55654807-55658248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55655906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 244
(Y244H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044767]
|
| AlphaFold |
P48986 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044767
AA Change: Y244H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047016
Gene: ENSMUSG00000037984
AA Change: Y244H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
89 |
N/A |
INTRINSIC |
|
HLH
|
100 |
152 |
6.35e-17 |
SMART |
|
Pfam:Neuro_bHLH
|
153 |
272 |
2.8e-42 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile and exhibit an apparently normal differentiation of CNS neurons with no obvious behavioral or motor abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc102a |
T |
C |
8: 95,634,957 (GRCm39) |
D327G |
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cfap126 |
A |
G |
1: 170,953,700 (GRCm39) |
D134G |
possibly damaging |
Het |
| Cript |
T |
C |
17: 87,335,139 (GRCm39) |
L19P |
probably benign |
Het |
| Cwf19l1 |
A |
C |
19: 44,120,597 (GRCm39) |
L39V |
possibly damaging |
Het |
| Eif2b4 |
T |
C |
5: 31,348,920 (GRCm39) |
|
probably null |
Het |
| Esp16 |
A |
G |
17: 39,850,738 (GRCm39) |
N39S |
probably benign |
Het |
| Fbxo30 |
A |
G |
10: 11,166,078 (GRCm39) |
N267D |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,208,607 (GRCm39) |
|
probably null |
Het |
| Gp1ba |
A |
G |
11: 70,531,473 (GRCm39) |
|
probably benign |
Het |
| Klf12 |
C |
T |
14: 100,179,503 (GRCm39) |
R279Q |
probably benign |
Het |
| Lats1 |
C |
T |
10: 7,567,540 (GRCm39) |
Q104* |
probably null |
Het |
| Myrfl |
A |
G |
10: 116,675,289 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,325,189 (GRCm39) |
I963T |
probably damaging |
Het |
| Nodal |
T |
C |
10: 61,254,212 (GRCm39) |
M45T |
possibly damaging |
Het |
| Nuggc |
A |
G |
14: 65,861,591 (GRCm39) |
E479G |
possibly damaging |
Het |
| Pdcd6ip |
T |
C |
9: 113,501,842 (GRCm39) |
D467G |
probably benign |
Het |
| Pnmt |
C |
A |
11: 98,277,677 (GRCm39) |
Q74K |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 96,961,235 (GRCm39) |
T267I |
probably damaging |
Het |
| Slc35e3 |
A |
G |
10: 117,580,804 (GRCm39) |
S167P |
probably damaging |
Het |
| Sprr2f |
C |
A |
3: 92,273,390 (GRCm39) |
P63H |
unknown |
Het |
| Stt3a |
T |
C |
9: 36,659,371 (GRCm39) |
I323V |
probably benign |
Het |
| Tedc2 |
A |
G |
17: 24,435,358 (GRCm39) |
S344P |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,245,514 (GRCm39) |
D3722G |
probably damaging |
Het |
| Zfp35 |
T |
C |
18: 24,136,555 (GRCm39) |
Y300H |
probably damaging |
Het |
| Zfp959 |
A |
G |
17: 56,204,326 (GRCm39) |
D121G |
possibly damaging |
Het |
|
| Other mutations in Neurod6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03087:Neurod6
|
APN |
6 |
55,655,760 (GRCm39) |
nonsense |
probably null |
|
|
R0446:Neurod6
|
UTSW |
6 |
55,656,614 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0540:Neurod6
|
UTSW |
6 |
55,656,572 (GRCm39) |
missense |
probably benign |
|
|
R0607:Neurod6
|
UTSW |
6 |
55,656,572 (GRCm39) |
missense |
probably benign |
|
|
R1752:Neurod6
|
UTSW |
6 |
55,656,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2078:Neurod6
|
UTSW |
6 |
55,655,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4379:Neurod6
|
UTSW |
6 |
55,656,257 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4807:Neurod6
|
UTSW |
6 |
55,655,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5952:Neurod6
|
UTSW |
6 |
55,656,002 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6116:Neurod6
|
UTSW |
6 |
55,655,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7391:Neurod6
|
UTSW |
6 |
55,656,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7418:Neurod6
|
UTSW |
6 |
55,656,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Neurod6
|
UTSW |
6 |
55,656,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Neurod6
|
UTSW |
6 |
55,656,347 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTAAGGGAAGTGGCTGTC -3'
(R):5'- TCAACGCCAGAAGTTTCCTG -3'
Sequencing Primer
(F):5'- TGAACATGGCACCCTGC -3'
(R):5'- ACGCCAGAAGTTTCCTGATGGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation