Incidental Mutation 'R3786:Neurod1'
| ID |
272244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neurod1
|
| Ensembl Gene |
ENSMUSG00000034701 |
| Gene Name |
neurogenic differentiation 1 |
| Synonyms |
Nd1, bHLHa3, Neurod, BETA2 |
| MMRRC Submission |
040753-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R3786 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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 |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
A |
3: 97,066,605 (GRCm39) |
L41Q |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,589 (GRCm39) |
L177P |
probably damaging |
Het |
| Btbd7 |
C |
T |
12: 102,804,411 (GRCm39) |
E210K |
probably benign |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,356 (GRCm39) |
R231H |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,390,534 (GRCm39) |
E1099D |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,998,189 (GRCm39) |
S763N |
probably damaging |
Het |
| Dzip3 |
C |
A |
16: 48,795,906 (GRCm39) |
C155F |
probably benign |
Het |
| Fam161b |
A |
T |
12: 84,408,464 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
T |
G |
6: 113,542,165 (GRCm39) |
S770A |
probably damaging |
Het |
| Gpt2 |
G |
T |
8: 86,252,202 (GRCm39) |
V506L |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,784,068 (GRCm39) |
E327V |
probably damaging |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Hnrnpl |
A |
G |
7: 28,510,436 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,439,839 (GRCm39) |
I176N |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 65,037,849 (GRCm39) |
T1505I |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,670,907 (GRCm39) |
T580M |
probably damaging |
Het |
| Mettl3 |
A |
T |
14: 52,537,363 (GRCm39) |
I102N |
probably benign |
Het |
| Mgat4c |
A |
G |
10: 102,220,931 (GRCm39) |
H71R |
probably damaging |
Het |
| Misp |
G |
A |
10: 79,661,795 (GRCm39) |
V71I |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,283,590 (GRCm39) |
Q734R |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,418,853 (GRCm39) |
T3933I |
possibly damaging |
Het |
| Myh13 |
A |
G |
11: 67,218,014 (GRCm39) |
N29S |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,091,927 (GRCm39) |
V5046F |
probably damaging |
Het |
| Nrg1 |
A |
T |
8: 32,311,411 (GRCm39) |
V376E |
probably damaging |
Het |
| Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Odr4 |
A |
G |
1: 150,260,282 (GRCm39) |
I112T |
probably benign |
Het |
| Ppp1r21 |
T |
A |
17: 88,884,555 (GRCm39) |
|
probably null |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Rhoc |
T |
C |
3: 104,700,003 (GRCm39) |
|
probably null |
Het |
| Robo3 |
A |
G |
9: 37,333,521 (GRCm39) |
V708A |
probably damaging |
Het |
| Rtcb |
G |
T |
10: 85,778,458 (GRCm39) |
T395K |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 89,056,018 (GRCm39) |
T967A |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,421,410 (GRCm39) |
Q116K |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,583,355 (GRCm39) |
H1062R |
possibly damaging |
Het |
| Spatc1l |
C |
T |
10: 76,399,736 (GRCm39) |
T86I |
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Tsc1 |
A |
G |
2: 28,577,154 (GRCm39) |
D1151G |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,368,419 (GRCm39) |
D413G |
probably benign |
Het |
| Wap |
G |
A |
11: 6,588,550 (GRCm39) |
Q25* |
probably null |
Het |
| Wnt16 |
A |
G |
6: 22,298,021 (GRCm39) |
N296D |
probably benign |
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 |
|
R3785: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 |
Incidental Mutation