Incidental Mutation 'R3783:Neurod1'
ID 272108
Institutional Source Beutler Lab
Gene Symbol Neurod1
Ensembl Gene ENSMUSG00000034701
Gene Name neurogenic differentiation 1
Synonyms Nd1, bHLHa3, Neurod, BETA2
MMRRC Submission 040875-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # R3783 (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

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (45/46)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Akap6 A G 12: 52,927,552 (GRCm39) H154R probably damaging Het
Aoc1 T C 6: 48,882,589 (GRCm39) L177P probably damaging Het
Ascc3 A G 10: 50,604,350 (GRCm39) T1357A probably damaging Het
Atp13a3 A T 16: 30,173,067 (GRCm39) V270D probably damaging Het
Carmil3 T C 14: 55,734,433 (GRCm39) F418S probably damaging Het
Ccdc93 A G 1: 121,365,598 (GRCm39) N77S probably damaging Het
Cpt1b T C 15: 89,309,392 (GRCm39) K47R probably damaging Het
Cyp4f14 A G 17: 33,135,736 (GRCm39) Y42H probably benign Het
Dmxl1 G A 18: 49,998,189 (GRCm39) S763N probably damaging Het
Fancd2 T G 6: 113,542,165 (GRCm39) S770A probably damaging Het
Firrm A T 1: 163,815,252 (GRCm39) C90S probably benign Het
Flnb T G 14: 7,889,236 (GRCm38) W529G probably benign Het
Fryl T C 5: 73,258,819 (GRCm39) Y655C probably benign Het
Gml C T 15: 74,685,521 (GRCm39) V155M probably damaging Het
Gpr174 A G X: 106,336,670 (GRCm39) T161A probably benign Het
Heatr1 G T 13: 12,449,341 (GRCm39) L1946F probably damaging Het
Inpp5k T C 11: 75,538,512 (GRCm39) L461P probably damaging Het
Isy1 T C 6: 87,798,527 (GRCm39) E209G possibly damaging Het
Kdm5b A G 1: 134,558,280 (GRCm39) H1429R probably benign Het
Magi2 C T 5: 20,670,907 (GRCm39) T580M probably damaging Het
Map3k1 C T 13: 111,892,754 (GRCm39) V834I probably benign Het
Mdn1 A T 4: 32,720,818 (GRCm39) E2310D probably benign Het
Myo15a A T 11: 60,368,398 (GRCm39) Y386F probably damaging Het
Niban1 C T 1: 151,565,399 (GRCm39) S243L possibly damaging Het
Nsa2 G T 13: 97,272,042 (GRCm39) Q60K possibly damaging Het
Pcdha1 T A 18: 37,063,855 (GRCm39) L173Q probably damaging Het
Pdpk1 T C 17: 24,329,824 (GRCm39) T71A possibly damaging Het
Plxna2 T A 1: 194,489,829 (GRCm39) V1692E probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Psg27 T A 7: 18,294,279 (GRCm39) Q376L probably damaging Het
Psmd4 T C 3: 94,942,562 (GRCm39) D6G possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rala T A 13: 18,057,031 (GRCm39) E185V probably benign Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Scn10a T C 9: 119,520,628 (GRCm39) T91A probably damaging 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
Tet2 T C 3: 133,185,124 (GRCm39) K1182R possibly damaging Het
Thbs4 T C 13: 92,909,672 (GRCm39) N375S probably benign Het
Thoc5 A G 11: 4,870,372 (GRCm39) probably benign Het
Tmprss9 G T 10: 80,723,301 (GRCm39) V254F probably damaging Het
Tro G A X: 149,438,048 (GRCm39) T203I possibly damaging Het
Ttbk2 A T 2: 120,604,296 (GRCm39) probably benign Het
Usf2 A G 7: 30,655,256 (GRCm39) V133A probably benign Het
Wap G A 11: 6,588,550 (GRCm39) Q25* probably null Het
Xdh C T 17: 74,200,590 (GRCm39) probably benign Het
Xrn1 G T 9: 95,851,338 (GRCm39) M153I probably benign Het
Other mutations in Neurod1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R3785: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