Incidental Mutation 'R3785:Neurod1'
ID |
272201 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Neurod1
|
Ensembl Gene |
ENSMUSG00000034701 |
Gene Name |
neurogenic differentiation 1 |
Synonyms |
Nd1, bHLHa3, Neurod, BETA2 |
MMRRC Submission |
040752-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.934)
|
Stock # |
R3785 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
79282981-79286980 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 79284939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 148
(N148I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041099]
|
AlphaFold |
Q60867 |
PDB Structure |
Crystal Structure of the basic-helix-loop-helix domains of the heterodimer E47/NeuroD1 bound to DNA [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041099
AA Change: N148I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040364 Gene: ENSMUSG00000034701 AA Change: N148I
Domain | Start | End | E-Value | Type |
coiled coil region
|
27 |
84 |
N/A |
INTRINSIC |
HLH
|
107 |
159 |
9.63e-17 |
SMART |
Pfam:Neuro_bHLH
|
160 |
284 |
1.1e-47 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153602
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180703
|
Meta Mutation Damage Score |
0.9036 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
95% (38/40) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for targeted null mutations exhibit neonatal diabetes, pancreatic enteroendocrine cell deficits, impaired hearing and balance, retinal degeneration, and seizures. Survival past birth is dependent on genetic background. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
A2ml1 |
C |
T |
6: 128,521,887 (GRCm39) |
|
probably null |
Het |
Aak1 |
T |
C |
6: 86,942,560 (GRCm39) |
F701S |
unknown |
Het |
Arid2 |
T |
A |
15: 96,270,439 (GRCm39) |
D1517E |
possibly damaging |
Het |
Cyp2r1 |
C |
T |
7: 114,153,931 (GRCm39) |
V88I |
possibly damaging |
Het |
Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
Dnah11 |
G |
T |
12: 117,981,337 (GRCm39) |
Q2610K |
probably damaging |
Het |
Gm5698 |
T |
C |
1: 31,016,560 (GRCm39) |
T164A |
probably benign |
Het |
Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
Gpx6 |
A |
G |
13: 21,497,956 (GRCm39) |
T76A |
probably benign |
Het |
Htra3 |
A |
T |
5: 35,828,472 (GRCm39) |
L136H |
probably benign |
Het |
Ifitm10 |
G |
A |
7: 141,882,335 (GRCm39) |
T145I |
possibly damaging |
Het |
Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
Kcnd3 |
C |
A |
3: 105,575,541 (GRCm39) |
T555K |
possibly damaging |
Het |
Kif13b |
C |
T |
14: 65,037,849 (GRCm39) |
T1505I |
probably benign |
Het |
Mcf2l |
G |
T |
8: 12,930,099 (GRCm39) |
G40C |
probably damaging |
Het |
Mettl3 |
A |
T |
14: 52,537,363 (GRCm39) |
I102N |
probably benign |
Het |
Muc5b |
C |
T |
7: 141,418,853 (GRCm39) |
T3933I |
possibly damaging |
Het |
Mus81 |
G |
A |
19: 5,535,389 (GRCm39) |
|
probably benign |
Het |
Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
Mypn |
C |
A |
10: 63,028,961 (GRCm39) |
R34L |
probably benign |
Het |
Or4f56 |
T |
C |
2: 111,703,831 (GRCm39) |
Y123C |
probably damaging |
Het |
Or8g32 |
T |
C |
9: 39,305,678 (GRCm39) |
V197A |
probably benign |
Het |
Or9g3 |
G |
A |
2: 85,589,797 (GRCm39) |
P308S |
probably benign |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rnf5 |
A |
G |
17: 34,820,906 (GRCm39) |
|
probably null |
Het |
Sacs |
C |
A |
14: 61,421,410 (GRCm39) |
Q116K |
probably damaging |
Het |
Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
Senp6 |
T |
G |
9: 79,999,568 (GRCm39) |
I74S |
probably benign |
Het |
Slc13a4 |
T |
A |
6: 35,264,827 (GRCm39) |
T131S |
probably damaging |
Het |
Slc9a4 |
C |
A |
1: 40,623,130 (GRCm39) |
P123Q |
probably damaging |
Het |
Stxbp4 |
T |
A |
11: 90,426,441 (GRCm39) |
|
probably null |
Het |
Swt1 |
T |
C |
1: 151,255,155 (GRCm39) |
D814G |
probably benign |
Het |
Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,604,296 (GRCm39) |
|
probably benign |
Het |
Txnl4b |
C |
T |
8: 110,299,409 (GRCm39) |
A123V |
probably damaging |
Het |
Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
Zfp26 |
A |
T |
9: 20,349,098 (GRCm39) |
C489S |
probably damaging |
Het |
Zfp804b |
G |
A |
5: 6,820,153 (GRCm39) |
T934M |
possibly damaging |
Het |
|
Other mutations in Neurod1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01558:Neurod1
|
APN |
2 |
79,284,363 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01814:Neurod1
|
APN |
2 |
79,285,003 (GRCm39) |
missense |
probably damaging |
1.00 |
accelerando
|
UTSW |
2 |
79,284,370 (GRCm39) |
missense |
probably benign |
0.20 |
cruz
|
UTSW |
2 |
79,284,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R0427:Neurod1
|
UTSW |
2 |
79,284,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R1775:Neurod1
|
UTSW |
2 |
79,284,781 (GRCm39) |
missense |
probably benign |
0.10 |
R1795:Neurod1
|
UTSW |
2 |
79,284,673 (GRCm39) |
missense |
probably benign |
0.13 |
R3783:Neurod1
|
UTSW |
2 |
79,284,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R3786:Neurod1
|
UTSW |
2 |
79,284,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R3787:Neurod1
|
UTSW |
2 |
79,284,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R4031:Neurod1
|
UTSW |
2 |
79,284,370 (GRCm39) |
missense |
probably benign |
0.20 |
R4978:Neurod1
|
UTSW |
2 |
79,284,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R6163:Neurod1
|
UTSW |
2 |
79,284,505 (GRCm39) |
missense |
probably benign |
0.00 |
R7098:Neurod1
|
UTSW |
2 |
79,285,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R7401:Neurod1
|
UTSW |
2 |
79,285,290 (GRCm39) |
missense |
probably benign |
0.14 |
R7576:Neurod1
|
UTSW |
2 |
79,284,689 (GRCm39) |
nonsense |
probably null |
|
R8465:Neurod1
|
UTSW |
2 |
79,284,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R8726:Neurod1
|
UTSW |
2 |
79,284,430 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9039:Neurod1
|
UTSW |
2 |
79,284,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R9068:Neurod1
|
UTSW |
2 |
79,285,218 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9225:Neurod1
|
UTSW |
2 |
79,284,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCTTTCAAAGAAGGGCTC -3'
(R):5'- AGGACGAGCTTGAAGCCATG -3'
Sequencing Primer
(F):5'- CTTTCAAAGAAGGGCTCCAGAG -3'
(R):5'- CGAGCTTGAAGCCATGAATGC -3'
|
Posted On |
2015-03-25 |