Incidental Mutation 'IGL03127:Neil2'
ID 410191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neil2
Ensembl Gene ENSMUSG00000035121
Gene Name nei like 2 (E. coli)
Synonyms LOC382913, NEH2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03127
Quality Score
Status
Chromosome 14
Chromosomal Location 63419892-63431305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63429257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 12 (H12R)
Ref Sequence ENSEMBL: ENSMUSP00000152963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038229] [ENSMUST00000225157] [ENSMUST00000225841] [ENSMUST00000226002]
AlphaFold Q6R2P8
Predicted Effect probably benign
Transcript: ENSMUST00000038229
AA Change: H12R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000045200
Gene: ENSMUSG00000035121
AA Change: H12R

DomainStartEndE-ValueType
Blast:Fapy_DNA_glyco 2 177 7e-94 BLAST
H2TH 188 272 1.47e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223723
Predicted Effect probably benign
Transcript: ENSMUST00000225157
Predicted Effect probably benign
Transcript: ENSMUST00000225841
AA Change: H12R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000226002
AA Change: H12R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
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 Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This enzyme is primarily associated with DNA repair during transcription and acts prefentially on cytosine-derived lesions, particularly 5-hydroxyuracil and 5-hydroxycytosine. It contains an N-terminal catalytic domain, a hinge region, and a C-terminal DNA-binding domain with helix-two-turn-helix and zinc finger motifs. This enzyme interacts with the X-ray cross complementing factor 1 scaffold protein as part of a multi-protein DNA repair complex. A pseudogene of this gene has been identified. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased age-related DNA damage, loss of telomeres and increased induced lung inflammation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Amdhd2 A G 17: 24,376,712 (GRCm39) probably null Het
Apol7c A G 15: 77,410,106 (GRCm39) M280T probably benign Het
Atl2 T C 17: 80,160,283 (GRCm39) M264V probably damaging Het
Ccdc141 C T 2: 76,859,579 (GRCm39) probably null Het
Dtx4 T C 19: 12,463,864 (GRCm39) probably benign Het
Dyrk4 G A 6: 126,874,134 (GRCm39) T152I possibly damaging Het
F5 T A 1: 164,021,107 (GRCm39) I1194N probably benign Het
Gadl1 C T 9: 115,777,732 (GRCm39) T126M probably damaging Het
Gcnt7 A T 2: 172,296,331 (GRCm39) C110* probably null Het
H2-M9 C T 17: 36,951,714 (GRCm39) V254M possibly damaging Het
Hadha A T 5: 30,339,184 (GRCm39) probably benign Het
Kit T C 5: 75,801,848 (GRCm39) M621T probably benign Het
Krt73 T C 15: 101,704,275 (GRCm39) M422V probably benign Het
Nrsn1 A G 13: 25,437,700 (GRCm39) L76P probably damaging Het
Or2y1g T G 11: 49,171,599 (GRCm39) V208G possibly damaging Het
Or8b1 C A 9: 38,399,882 (GRCm39) Q186K probably benign Het
Or8d2 T A 9: 38,759,505 (GRCm39) Y32N probably damaging Het
Pot1a G A 6: 25,794,615 (GRCm39) A23V probably benign Het
Ppp1r14d A G 2: 119,048,841 (GRCm39) *147Q probably null Het
Ptger2 T C 14: 45,239,462 (GRCm39) probably benign Het
Syne3 A T 12: 104,909,687 (GRCm39) D716E probably benign Het
Tbc1d9 A G 8: 83,976,102 (GRCm39) N554D probably damaging Het
Ushbp1 T A 8: 71,847,020 (GRCm39) Q204L possibly damaging Het
Other mutations in Neil2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Neil2 APN 14 63,429,177 (GRCm39) missense probably damaging 0.98
IGL01795:Neil2 APN 14 63,426,199 (GRCm39) missense probably benign 0.03
IGL02990:Neil2 APN 14 63,429,258 (GRCm39) missense possibly damaging 0.71
R0234:Neil2 UTSW 14 63,420,975 (GRCm39) missense probably damaging 1.00
R0234:Neil2 UTSW 14 63,420,975 (GRCm39) missense probably damaging 1.00
R0631:Neil2 UTSW 14 63,420,849 (GRCm39) missense possibly damaging 0.89
R1972:Neil2 UTSW 14 63,423,526 (GRCm39) missense possibly damaging 0.85
R4235:Neil2 UTSW 14 63,429,290 (GRCm39) start codon destroyed probably null 1.00
R5112:Neil2 UTSW 14 63,425,909 (GRCm39) missense probably damaging 1.00
R6315:Neil2 UTSW 14 63,420,920 (GRCm39) missense possibly damaging 0.61
R6802:Neil2 UTSW 14 63,429,263 (GRCm39) missense probably damaging 1.00
R8286:Neil2 UTSW 14 63,426,154 (GRCm39) missense probably benign 0.05
R8956:Neil2 UTSW 14 63,429,227 (GRCm39) missense probably damaging 1.00
Z1176:Neil2 UTSW 14 63,425,945 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02