Incidental Mutation 'R5731:Neurog1'
ID 452774
Institutional Source Beutler Lab
Gene Symbol Neurog1
Ensembl Gene ENSMUSG00000048904
Gene Name neurogenin 1
Synonyms ngn1, bHLHa6, Neurod3, neurogenin 1, Math4C, neurogenin
MMRRC Submission 043192-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5731 (G1)
Quality Score 127
Status Not validated
Chromosome 13
Chromosomal Location 56398291-56399976 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56399354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 131 (K131R)
Ref Sequence ENSEMBL: ENSMUSP00000050484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058475]
AlphaFold P70660
Predicted Effect probably damaging
Transcript: ENSMUST00000058475
AA Change: K131R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050484
Gene: ENSMUSG00000048904
AA Change: K131R

DomainStartEndE-ValueType
low complexity region 10 27 N/A INTRINSIC
low complexity region 68 84 N/A INTRINSIC
HLH 99 151 4.49e-17 SMART
low complexity region 165 180 N/A INTRINSIC
low complexity region 200 212 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in midbrain, dorsal root sensory ganglia and a subset of cranial ganglia. Mutants are born alive, but fail to nurse, and die within 12 hours. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik A G 8: 33,919,353 (GRCm39) I58V unknown Het
Abca4 G T 3: 121,926,242 (GRCm39) G18V probably damaging Het
Arl9 T C 5: 77,154,374 (GRCm39) V34A possibly damaging Het
Bpifb9a A T 2: 154,104,163 (GRCm39) N202I possibly damaging Het
C1qtnf6 A T 15: 78,411,514 (GRCm39) M54K probably benign Het
Ccdc62 T C 5: 124,089,352 (GRCm39) probably null Het
Cd177 A G 7: 24,443,846 (GRCm39) C751R probably damaging Het
Clcn3 T C 8: 61,375,923 (GRCm39) I657V possibly damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Dag1 T C 9: 108,095,310 (GRCm39) T61A probably benign Het
Fam184b C T 5: 45,710,471 (GRCm39) G553E probably benign Het
Fkbp15 G C 4: 62,225,166 (GRCm39) A831G probably benign Het
Flt1 T C 5: 147,614,962 (GRCm39) H328R probably benign Het
Fmnl2 T A 2: 53,008,149 (GRCm39) probably null Het
Gm5431 A G 11: 48,785,275 (GRCm39) Y89H probably damaging Het
Gprin2 C A 14: 33,917,397 (GRCm39) L124F probably damaging Het
Hacd2 T A 16: 34,922,374 (GRCm39) Y188N probably damaging Het
Itgad A G 7: 127,797,726 (GRCm39) T950A probably benign Het
Kit T A 5: 75,815,075 (GRCm39) I933N possibly damaging Het
Klhl11 A T 11: 100,354,589 (GRCm39) Y411N probably damaging Het
N4bp2 T C 5: 65,966,500 (GRCm39) S1313P probably damaging Het
Or11h6 T C 14: 50,880,248 (GRCm39) L170P probably damaging Het
Or5d16 T A 2: 87,773,771 (GRCm39) H67L possibly damaging Het
Otogl T C 10: 107,717,325 (GRCm39) D382G probably damaging Het
Pcdh1 A C 18: 38,331,651 (GRCm39) F590V probably damaging Het
Pcdha5 G A 18: 37,093,820 (GRCm39) V110M probably damaging Het
Pdlim3 A G 8: 46,368,284 (GRCm39) N261D probably benign Het
Pou4f1 T C 14: 104,703,347 (GRCm39) T362A unknown Het
Prlr A G 15: 10,314,221 (GRCm39) T9A probably benign Het
Psmb7 T C 2: 38,478,289 (GRCm39) Y245C probably damaging Het
Ryr3 T A 2: 112,471,917 (GRCm39) D4515V probably damaging Het
Svop T C 5: 114,198,124 (GRCm39) K149E probably damaging Het
Tlr3 A G 8: 45,851,157 (GRCm39) V56A probably benign Het
Tm4sf20 T G 1: 82,738,013 (GRCm39) I93L probably benign Het
Ugt2b5 T A 5: 87,288,111 (GRCm39) R19* probably null Het
Vmn2r28 G T 7: 5,491,668 (GRCm39) T193K probably benign Het
Vps13c A G 9: 67,802,661 (GRCm39) D654G probably damaging Het
Zfyve16 T A 13: 92,644,701 (GRCm39) Q1167L probably benign Het
Other mutations in Neurog1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Neurog1 APN 13 56,399,660 (GRCm39) missense probably damaging 1.00
R0105:Neurog1 UTSW 13 56,399,050 (GRCm39) missense probably benign 0.34
R2240:Neurog1 UTSW 13 56,399,348 (GRCm39) missense probably damaging 1.00
R4804:Neurog1 UTSW 13 56,399,579 (GRCm39) missense probably benign
R5972:Neurog1 UTSW 13 56,399,211 (GRCm39) missense probably damaging 1.00
R6614:Neurog1 UTSW 13 56,399,637 (GRCm39) missense probably benign 0.11
R6992:Neurog1 UTSW 13 56,399,363 (GRCm39) missense probably damaging 0.98
R7131:Neurog1 UTSW 13 56,399,563 (GRCm39) missense probably benign 0.01
R8056:Neurog1 UTSW 13 56,399,223 (GRCm39) missense probably damaging 0.98
R8809:Neurog1 UTSW 13 56,399,098 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AAGTCTTCTGAAGCCGAGGGAC -3'
(R):5'- GCATCTCTGATCTCGACTGC -3'

Sequencing Primer
(F):5'- TTCTGAAGCCGAGGGACTACTG -3'
(R):5'- ATCGAATGTTCCCGGTGC -3'
Posted On 2017-01-03