Incidental Mutation 'R5277:Neurog3'
ID 404008
Institutional Source Beutler Lab
Gene Symbol Neurog3
Ensembl Gene ENSMUSG00000044312
Gene Name neurogenin 3
Synonyms Math4B, Atoh5, ngn3, bHLHa7
MMRRC Submission 042864-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5277 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 61968869-61970542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61969632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 36 (Y36N)
Ref Sequence ENSEMBL: ENSMUSP00000151551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027719] [ENSMUST00000050103] [ENSMUST00000141724] [ENSMUST00000150057] [ENSMUST00000156798] [ENSMUST00000218121]
AlphaFold P70661
Predicted Effect probably benign
Transcript: ENSMUST00000027719
SMART Domains Protein: ENSMUSP00000027719
Gene: ENSMUSG00000020083

DomainStartEndE-ValueType
low complexity region 16 40 N/A INTRINSIC
Pfam:DUF4605 41 100 9.6e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000050103
AA Change: Y131N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054054
Gene: ENSMUSG00000044312
AA Change: Y131N

DomainStartEndE-ValueType
low complexity region 30 43 N/A INTRINSIC
low complexity region 59 70 N/A INTRINSIC
HLH 89 141 7.94e-18 SMART
low complexity region 156 171 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138450
Predicted Effect probably benign
Transcript: ENSMUST00000141724
SMART Domains Protein: ENSMUSP00000119343
Gene: ENSMUSG00000020083

DomainStartEndE-ValueType
low complexity region 40 54 N/A INTRINSIC
low complexity region 59 83 N/A INTRINSIC
Pfam:DUF4605 84 123 6.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150057
Predicted Effect probably benign
Transcript: ENSMUST00000156798
SMART Domains Protein: ENSMUSP00000115712
Gene: ENSMUSG00000020083

DomainStartEndE-ValueType
low complexity region 17 31 N/A INTRINSIC
low complexity region 36 60 N/A INTRINSIC
Pfam:DUF4605 61 100 3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000218121
AA Change: Y36N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218216
Meta Mutation Damage Score 0.9705 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for targeted null mutations are deficient in endocrine cells of the glandular stomach and intestinal epithelium, and lack glucagon- and insulin-producing cells of the pancreas. Mutants die postnatally from diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,884,660 (GRCm39) T54A probably damaging Het
Ablim1 T C 19: 57,143,693 (GRCm39) R89G probably damaging Het
Bco1 T A 8: 117,844,128 (GRCm39) probably null Het
Bhmt A T 13: 93,761,393 (GRCm39) M185K possibly damaging Het
Camk2d T C 3: 126,478,390 (GRCm39) probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Dcaf6 A G 1: 165,251,915 (GRCm39) S70P probably benign Het
Dclre1a C T 19: 56,533,164 (GRCm39) V477I possibly damaging Het
Dnah10 C T 5: 124,905,201 (GRCm39) P4021L probably damaging Het
Dusp10 A G 1: 183,769,204 (GRCm39) N57D possibly damaging Het
Fam13b G A 18: 34,595,243 (GRCm39) R374C probably benign Het
Fyb2 G A 4: 104,872,876 (GRCm39) D686N probably damaging Het
Glra3 G A 8: 56,444,242 (GRCm39) M67I possibly damaging Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gm6180 A G 8: 42,700,177 (GRCm39) noncoding transcript Het
Grin2c A G 11: 115,144,639 (GRCm39) V629A probably damaging Het
Kif4-ps A T 12: 101,112,186 (GRCm39) noncoding transcript Het
Mc3r T C 2: 172,091,707 (GRCm39) F310L probably damaging Het
Myh4 A G 11: 67,143,180 (GRCm39) D1036G probably damaging Het
Myh6 A G 14: 55,194,019 (GRCm39) I790T probably benign Het
Myo15a C A 11: 60,367,940 (GRCm39) Y233* probably null Het
Nckap5 A T 1: 125,954,277 (GRCm39) C758* probably null Het
Nlrp4e T C 7: 23,020,863 (GRCm39) L450P probably benign Het
Or52d13 A T 7: 103,110,148 (GRCm39) L84H probably damaging Het
Otog A G 7: 45,896,045 (GRCm39) E170G possibly damaging Het
Ppp2r2b G T 18: 42,874,207 (GRCm39) T41K probably damaging Het
Prmt5 A T 14: 54,747,399 (GRCm39) D459E probably benign Het
Ric8b G A 10: 84,783,516 (GRCm39) V125M probably damaging Het
Rptor A G 11: 119,713,782 (GRCm39) S4G probably damaging Het
Rslcan18 T G 13: 67,246,498 (GRCm39) E371D probably benign Het
Scaf11 A T 15: 96,317,107 (GRCm39) F819Y probably damaging Het
Sema6a A T 18: 47,409,611 (GRCm39) probably benign Het
Snx29 C T 16: 11,217,688 (GRCm39) T163I possibly damaging Het
Sphkap T C 1: 83,253,885 (GRCm39) N1288S probably benign Het
Tmbim7 G A 5: 3,723,192 (GRCm39) probably null Het
Tmem63c T A 12: 87,104,531 (GRCm39) probably null Het
Tmem69 A G 4: 116,410,458 (GRCm39) F171L probably benign Het
Urod A T 4: 116,847,482 (GRCm39) probably benign Het
Vmn1r37 A T 6: 66,708,460 (GRCm39) I29L probably benign Het
Vmn2r102 A G 17: 19,914,393 (GRCm39) T653A possibly damaging Het
Vmn2r75 A C 7: 85,815,500 (GRCm39) S121R probably benign Het
Vwde T C 6: 13,186,995 (GRCm39) T831A probably benign Het
Wdr70 C T 15: 8,006,465 (GRCm39) W362* probably null Het
Zfat A G 15: 68,037,758 (GRCm39) C906R probably damaging Het
Zfp7 T C 15: 76,765,403 (GRCm39) V32A probably damaging Het
Other mutations in Neurog3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4592:Neurog3 UTSW 10 61,969,599 (GRCm39) missense probably damaging 1.00
R7076:Neurog3 UTSW 10 61,969,359 (GRCm39) missense probably benign
R7540:Neurog3 UTSW 10 61,969,756 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- ATACCTAGGGACTGCTCCGAAG -3'
(R):5'- AAGTCTGAGAACACCAGTGC -3'

Sequencing Primer
(F):5'- CAGAAGTGGGTGACTGCC -3'
(R):5'- TGCAGGCCAGGGAATTCCTC -3'
Posted On 2016-07-22