Incidental Mutation 'IGL03127:Neil2'
ID410191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Neil2
Ensembl Gene ENSMUSG00000035121
Gene Namenei like 2 (E. coli)
SynonymsLOC382913, NEH2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.226) question?
Stock #IGL03127
Quality Score
Status
Chromosome14
Chromosomal Location63182443-63193856 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 63191808 bp
ZygosityHeterozygous
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]
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: 101,203,078 R374G probably damaging Het
Amdhd2 A G 17: 24,157,738 probably null Het
Apol7c A G 15: 77,525,906 M280T probably benign Het
Atl2 T C 17: 79,852,854 M264V probably damaging Het
Ccdc141 C T 2: 77,029,235 probably null Het
Dtx4 T C 19: 12,486,500 probably benign Het
Dyrk4 G A 6: 126,897,171 T152I possibly damaging Het
F5 T A 1: 164,193,538 I1194N probably benign Het
Gadl1 C T 9: 115,948,664 T126M probably damaging Het
Gcnt7 A T 2: 172,454,411 C110* probably null Het
H2-M9 C T 17: 36,640,822 V254M possibly damaging Het
Hadha A T 5: 30,134,186 Het
Kit T C 5: 75,641,188 M621T probably benign Het
Krt73 T C 15: 101,795,840 M422V probably benign Het
Nrsn1 A G 13: 25,253,717 L76P probably damaging Het
Olfr1393 T G 11: 49,280,772 V208G possibly damaging Het
Olfr906 C A 9: 38,488,586 Q186K probably benign Het
Olfr924 T A 9: 38,848,209 Y32N probably damaging Het
Pot1a G A 6: 25,794,616 A23V probably benign Het
Ppp1r14d A G 2: 119,218,360 *147Q probably null Het
Ptger2 T C 14: 45,002,005 probably benign Het
Syne3 A T 12: 104,943,428 D716E probably benign Het
Tbc1d9 A G 8: 83,249,473 N554D probably damaging Het
Ushbp1 T A 8: 71,394,376 Q204L possibly damaging Het
Other mutations in Neil2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Neil2 APN 14 63191728 missense probably damaging 0.98
IGL01795:Neil2 APN 14 63188750 missense probably benign 0.03
IGL02990:Neil2 APN 14 63191809 missense possibly damaging 0.71
R0234:Neil2 UTSW 14 63183526 missense probably damaging 1.00
R0234:Neil2 UTSW 14 63183526 missense probably damaging 1.00
R0631:Neil2 UTSW 14 63183400 missense possibly damaging 0.89
R1972:Neil2 UTSW 14 63186077 missense possibly damaging 0.85
R4235:Neil2 UTSW 14 63191841 start codon destroyed probably null 1.00
R5112:Neil2 UTSW 14 63188460 missense probably damaging 1.00
R6315:Neil2 UTSW 14 63183471 missense possibly damaging 0.61
R6802:Neil2 UTSW 14 63191814 missense probably damaging 1.00
Posted On2016-08-02