Incidental Mutation 'IGL01795:Neil2'
ID 155330
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 # IGL01795
Quality Score
Status
Chromosome 14
Chromosomal Location 63419892-63431305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63426199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 57 (D57G)
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: D57G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000045200
Gene: ENSMUSG00000035121
AA Change: D57G

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: D57G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000226002
AA Change: D57G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,895,093 (GRCm39) R263* probably null Het
Arfgef1 A T 1: 10,217,753 (GRCm39) I1562K probably benign Het
B4galt1 T A 4: 40,807,760 (GRCm39) D347V probably damaging Het
Ccdc178 T A 18: 22,152,175 (GRCm39) R646S probably benign Het
Ccr1 A T 9: 123,764,149 (GRCm39) L127* probably null Het
Cd109 A G 9: 78,569,047 (GRCm39) probably benign Het
Chd6 A G 2: 160,803,294 (GRCm39) V2128A probably benign Het
Chil6 T A 3: 106,296,108 (GRCm39) I376F probably damaging Het
Chit1 T C 1: 134,076,167 (GRCm39) S275P probably damaging Het
Dnaaf8 T G 16: 4,791,935 (GRCm39) noncoding transcript Het
Erap1 T A 13: 74,814,209 (GRCm39) probably null Het
F5 T C 1: 164,021,959 (GRCm39) V1478A probably benign Het
Fras1 G T 5: 96,925,904 (GRCm39) V3703F probably damaging Het
Hmmr C T 11: 40,612,561 (GRCm39) M185I probably benign Het
Kcnu1 A G 8: 26,403,733 (GRCm39) Y8C probably damaging Het
Krt16 A G 11: 100,138,550 (GRCm39) probably benign Het
Mcf2l A G 8: 13,050,749 (GRCm39) probably null Het
Mgat5 C T 1: 127,396,968 (GRCm39) R572W probably damaging Het
Nom1 A G 5: 29,651,869 (GRCm39) T736A probably benign Het
Or4k51 A T 2: 111,584,731 (GRCm39) M46L probably benign Het
Or5m5 T A 2: 85,814,478 (GRCm39) I98N probably damaging Het
Or6p1 A T 1: 174,258,215 (GRCm39) I74F possibly damaging Het
Prr14l A T 5: 32,989,189 (GRCm39) probably benign Het
Sall1 A G 8: 89,755,308 (GRCm39) S1224P probably benign Het
Slc44a2 A C 9: 21,256,645 (GRCm39) K336Q probably damaging Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Sptan1 C T 2: 29,908,501 (GRCm39) T1754I probably benign Het
Zdhhc5 T C 2: 84,520,390 (GRCm39) S596G probably benign Het
Other mutations in Neil2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Neil2 APN 14 63,429,177 (GRCm39) missense probably damaging 0.98
IGL02990:Neil2 APN 14 63,429,258 (GRCm39) missense possibly damaging 0.71
IGL03127:Neil2 APN 14 63,429,257 (GRCm39) missense probably benign 0.01
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 2014-02-04