Incidental Mutation 'IGL02990:Neil2'
ID 406889
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
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02990
Quality Score
Status
Chromosome 14
Chromosomal Location 63182443-63193856 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 63191809 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 12 (H12N)
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: H12N

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000045200
Gene: ENSMUSG00000035121
AA Change: H12N

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: H12N

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000226002
AA Change: H12N

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G T 11: 69,163,206 V205F probably benign Het
Ampd3 T C 7: 110,807,963 probably benign Het
Arhgef18 G A 8: 3,444,904 V388I probably benign Het
Atp6v1c2 C T 12: 17,294,740 V169I probably damaging Het
Ccdc88b G T 19: 6,847,409 L1328I probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cluh G A 11: 74,667,765 probably null Het
Cpsf7 C A 19: 10,531,795 N23K probably benign Het
Cyp4x1 A T 4: 115,121,749 F191L probably benign Het
Dcn A G 10: 97,509,973 T216A probably benign Het
Dirc2 C A 16: 35,735,491 V200F possibly damaging Het
Drosha C T 15: 12,827,267 probably benign Het
Foxn4 A G 5: 114,272,989 S24P probably damaging Het
Gm11733 A T 11: 117,486,983 probably null Het
Hapln1 A C 13: 89,601,606 Y90S probably benign Het
Igf2r C A 17: 12,710,746 probably benign Het
Jade2 A G 11: 51,831,247 probably benign Het
Kcnh7 A T 2: 62,705,986 L1084H probably benign Het
Kif1a T C 1: 93,039,263 D1155G probably damaging Het
Llgl2 A G 11: 115,854,333 M958V probably benign Het
Lrp2 A G 2: 69,441,396 V4064A possibly damaging Het
Mau2 A G 8: 70,022,255 probably benign Het
Mllt10 T C 2: 18,123,711 probably benign Het
Myo15 A G 11: 60,479,440 T1009A probably benign Het
Myo6 T C 9: 80,276,403 probably null Het
Nrde2 T C 12: 100,142,096 E412G probably damaging Het
Olfr114 C T 17: 37,589,668 M228I probably benign Het
Olfr1220 T C 2: 89,097,129 Y266C possibly damaging Het
Patl2 T G 2: 122,124,497 probably null Het
Pkhd1 T C 1: 20,522,963 H1642R possibly damaging Het
Ppp6r1 A G 7: 4,643,023 I199T possibly damaging Het
Prom2 T A 2: 127,528,814 T817S probably benign Het
Slc9b1 A G 3: 135,394,983 probably null Het
Sv2c A T 13: 96,088,378 I141K probably damaging Het
Tas2r139 A T 6: 42,141,104 I57F probably damaging Het
Tep1 A G 14: 50,868,246 S106P possibly damaging Het
Tnni3k T C 3: 154,957,758 D319G probably benign Het
Tom1l2 C T 11: 60,230,236 D461N probably damaging Het
Ugt1a10 T C 1: 88,055,879 L133S probably damaging Het
Usf2 T G 7: 30,955,307 Q161P probably benign Het
Vmn1r15 A G 6: 57,258,608 T154A probably benign Het
Vmn2r95 C A 17: 18,452,036 Y678* probably null 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
IGL03127:Neil2 APN 14 63191808 missense probably benign 0.01
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
R8286:Neil2 UTSW 14 63188705 missense probably benign 0.05
R8956:Neil2 UTSW 14 63191778 missense probably damaging 1.00
Z1176:Neil2 UTSW 14 63188496 missense probably damaging 1.00
Posted On 2016-08-02