Incidental Mutation 'R7076:Neurog3'
ID 549229
Institutional Source Beutler Lab
Gene Symbol Neurog3
Ensembl Gene ENSMUSG00000044312
Gene Name neurogenin 3
Synonyms Math4B, Atoh5, ngn3, bHLHa7
MMRRC Submission 045171-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7076 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 61968869-61970542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61969359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 40 (T40A)
Ref Sequence ENSEMBL: ENSMUSP00000054054 (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 benign
Transcript: ENSMUST00000050103
AA Change: T40A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054054
Gene: ENSMUSG00000044312
AA Change: T40A

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 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 benign
Transcript: ENSMUST00000218121
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A G 8: 56,324,694 (GRCm39) C587R probably damaging Het
Adgrg7 T C 16: 56,562,769 (GRCm39) T523A probably damaging Het
Arrdc3 A T 13: 81,038,815 (GRCm39) K259M probably damaging Het
Becn1 A T 11: 101,186,150 (GRCm39) N151K probably benign Het
Cars2 C T 8: 11,579,649 (GRCm39) E270K probably damaging Het
Ccp110 C A 7: 118,331,628 (GRCm39) P943Q probably damaging Het
Ccser2 A G 14: 36,661,786 (GRCm39) I466T probably benign Het
Cd164 A G 10: 41,399,193 (GRCm39) E94G probably benign Het
Cdon C T 9: 35,415,446 (GRCm39) T1228I probably benign Het
Cubn C A 2: 13,311,091 (GRCm39) V3145L probably benign Het
Cubn T A 2: 13,311,092 (GRCm39) K3144N probably benign Het
Dchs1 A G 7: 105,411,078 (GRCm39) V1649A probably benign Het
Dgka A T 10: 128,569,452 (GRCm39) D153E probably damaging Het
Dip2b A G 15: 100,055,853 (GRCm39) probably null Het
Dnajc21 T C 15: 10,449,717 (GRCm39) T435A probably benign Het
F830016B08Rik A T 18: 60,433,543 (GRCm39) I209F probably damaging Het
Ghdc C A 11: 100,660,540 (GRCm39) S111I possibly damaging Het
Gm19965 T C 1: 116,749,005 (GRCm39) C229R Het
Gpm6a C T 8: 55,490,486 (GRCm39) T54I probably damaging Het
Gpr171 G T 3: 59,005,577 (GRCm39) A66E probably damaging Het
Grm7 A G 6: 111,335,113 (GRCm39) D508G probably benign Het
Has1 G A 17: 18,064,068 (GRCm39) R524C probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ighv3-8 A T 12: 114,286,402 (GRCm39) L7Q probably damaging Het
Ints10 A T 8: 69,249,403 (GRCm39) R78* probably null Het
Itpr1 A G 6: 108,365,257 (GRCm39) I903V probably benign Het
Lrp1 A G 10: 127,386,052 (GRCm39) probably null Het
Mki67 A G 7: 135,307,358 (GRCm39) V132A probably damaging Het
Myh4 A G 11: 67,143,999 (GRCm39) E1123G possibly damaging Het
Nipsnap3b T A 4: 53,021,095 (GRCm39) probably null Het
Nr4a3 G A 4: 48,055,957 (GRCm39) V328I probably damaging Het
Or11g27 T A 14: 50,771,278 (GRCm39) Y136* probably null Het
Or2d36 T C 7: 106,747,236 (GRCm39) F238L probably damaging Het
Or52u1 A T 7: 104,237,430 (GRCm39) S140C probably damaging Het
Or5af2 G A 11: 58,707,990 (GRCm39) R52Q probably benign Het
Or5b124 G T 19: 13,611,244 (GRCm39) M256I possibly damaging Het
Or5p63 A T 7: 107,811,205 (GRCm39) V177D probably damaging Het
Osbpl5 A G 7: 143,263,577 (GRCm39) L102P probably benign Het
Ppl C T 16: 4,917,983 (GRCm39) R503Q probably damaging Het
Ppp2r2d T C 7: 138,478,326 (GRCm39) M321T possibly damaging Het
Prex1 T C 2: 166,475,302 (GRCm39) Y197C probably damaging Het
Prss32 A G 17: 24,072,895 (GRCm39) D42G possibly damaging Het
Ralgapa1 T C 12: 55,768,361 (GRCm39) E1210G possibly damaging Het
Sdr16c5 A G 4: 4,006,591 (GRCm39) C234R probably damaging Het
Slc23a4 A G 6: 34,933,819 (GRCm39) S95P probably damaging Het
Srp14 T C 2: 118,309,871 (GRCm39) T29A probably damaging Het
Tet2 T A 3: 133,172,784 (GRCm39) H1826L possibly damaging Het
Tfr2 A T 5: 137,581,836 (GRCm39) Y641F probably damaging Het
Tmco5b A G 2: 113,117,766 (GRCm39) N27D probably damaging Het
Tvp23a T C 16: 10,246,599 (GRCm39) D62G probably benign Het
Usp12 A G 5: 146,674,562 (GRCm39) F347S possibly damaging Het
Zfp407 A T 18: 84,576,601 (GRCm39) L1504Q probably damaging Het
Zfp524 A G 7: 5,020,895 (GRCm39) D141G possibly damaging Het
Zfp68 A G 5: 138,605,201 (GRCm39) I374T possibly damaging Het
Zfp758 C T 17: 22,594,137 (GRCm39) H208Y probably benign Het
Zfp804b T C 5: 6,819,751 (GRCm39) H1104R probably benign Het
Znrf2 T A 6: 54,819,680 (GRCm39) *75K probably null Het
Zzef1 T C 11: 72,790,385 (GRCm39) V2113A probably benign Het
Other mutations in Neurog3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4592:Neurog3 UTSW 10 61,969,599 (GRCm39) missense probably damaging 1.00
R5277:Neurog3 UTSW 10 61,969,632 (GRCm39) missense probably damaging 1.00
R7540:Neurog3 UTSW 10 61,969,756 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- TCTAAGTCAGAGGCTGGCACAC -3'
(R):5'- TAAGTTTGGCGTCATCCGG -3'

Sequencing Primer
(F):5'- GAGGCTGGCACACACACAC -3'
(R):5'- ATCCAGCGCCGAGTTGAG -3'
Posted On 2019-05-15