Incidental Mutation 'R6375:Neil3'
ID 514919
Institutional Source Beutler Lab
Gene Symbol Neil3
Ensembl Gene ENSMUSG00000039396
Gene Name nei like 3 (E. coli)
Synonyms
MMRRC Submission 044525-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.457) question?
Stock # R6375 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 54039902-54092100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54040311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 564 (K564E)
Ref Sequence ENSEMBL: ENSMUSP00000041909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047768]
AlphaFold Q8K203
PDB Structure Crystal structure of mouse Endonuclease VIII-LIKE 3 (mNEIL3) [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047768
AA Change: K564E

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041909
Gene: ENSMUSG00000039396
AA Change: K564E

DomainStartEndE-ValueType
low complexity region 43 54 N/A INTRINSIC
Blast:Fapy_DNA_glyco 57 137 5e-34 BLAST
H2TH 152 235 6.13e-6 SMART
ZnF_RBZ 320 344 2.28e-5 SMART
Pfam:zf-GRF 506 551 1.2e-24 PFAM
Pfam:zf-GRF 553 597 5.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211404
Meta Mutation Damage Score 0.1551 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased neurogenesis following hypoxia-ischemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,606,536 (GRCm39) I797N possibly damaging Het
Actbl2 A G 13: 111,392,478 (GRCm39) E271G probably damaging Het
Aplp2 T C 9: 31,069,084 (GRCm39) N526D probably benign Het
Cacna1e A C 1: 154,355,051 (GRCm39) N389K probably damaging Het
Ccdc18 T C 5: 108,322,820 (GRCm39) I640T possibly damaging Het
Ccdc39 T A 3: 33,868,516 (GRCm39) T857S probably benign Het
Ccser1 T A 6: 61,288,152 (GRCm39) L105* probably null Het
Efhc1 T A 1: 21,043,164 (GRCm39) M361K probably benign Het
Eml5 T C 12: 98,765,127 (GRCm39) Het
Fgfr2 C A 7: 129,769,475 (GRCm39) L637F probably damaging Het
Fmo9 A G 1: 166,492,164 (GRCm39) probably null Het
Gm4302 A G 10: 100,177,258 (GRCm39) T181A probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hoxb4 A G 11: 96,211,153 (GRCm39) *251W probably null Het
Il1r1 T A 1: 40,334,050 (GRCm39) Y207N probably damaging Het
Kcnc2 C T 10: 112,299,094 (GRCm39) T622M possibly damaging Het
Kcnk9 C T 15: 72,418,092 (GRCm39) A13T probably benign Het
Kdm4c C T 4: 74,248,952 (GRCm39) P69S probably damaging Het
Kmt2e T C 5: 23,704,517 (GRCm39) S1237P probably benign Het
Lrrc37a G A 11: 103,391,915 (GRCm39) T1170I probably benign Het
Lyn T A 4: 3,745,527 (GRCm39) F109I probably damaging Het
Lynx1 T C 15: 74,623,168 (GRCm39) Y88C probably damaging Het
Mon1b T A 8: 114,364,709 (GRCm39) I162N probably damaging Het
Muc4 A G 16: 32,555,061 (GRCm39) probably benign Het
Nbn T A 4: 15,979,327 (GRCm39) F437L probably benign Het
Nfe2l1 A T 11: 96,710,877 (GRCm39) S293T probably damaging Het
Or10al5 T A 17: 38,062,990 (GRCm39) S82T probably benign Het
Or14c39 C T 7: 86,344,267 (GRCm39) A201V probably benign Het
Or2ag2 C A 7: 106,485,221 (GRCm39) A268S probably benign Het
Or51g2 T C 7: 102,622,960 (GRCm39) T80A probably damaging Het
Pcdhb22 A T 18: 37,651,357 (GRCm39) probably benign Het
Pcdhgb6 A G 18: 37,875,678 (GRCm39) N129D probably damaging Het
Pias2 C T 18: 77,240,366 (GRCm39) T574M possibly damaging Het
Plec G A 15: 76,061,840 (GRCm39) T2564I probably damaging Het
Qrich2 A G 11: 116,349,054 (GRCm39) probably benign Het
Scgb1b12 T A 7: 32,033,884 (GRCm39) V48E probably damaging Het
Scn5a A T 9: 119,372,422 (GRCm39) L224Q probably damaging Het
Snx3 T A 10: 42,410,727 (GRCm39) Y132* probably null Het
Stk39 T A 2: 68,222,582 (GRCm39) I161F probably benign Het
Tcaf2 A C 6: 42,603,112 (GRCm39) L816R probably damaging Het
Thap4 C A 1: 93,652,878 (GRCm39) probably null Het
Tmc5 T A 7: 118,256,037 (GRCm39) V704E probably damaging Het
Tmem39a A G 16: 38,405,599 (GRCm39) T59A probably benign Het
Tshz2 A G 2: 169,727,939 (GRCm39) N376S probably damaging Het
Vmn1r60 T C 7: 5,548,017 (GRCm39) N28D probably damaging Het
Zfp637 C T 6: 117,822,285 (GRCm39) R138W probably damaging Het
Other mutations in Neil3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0426:Neil3 UTSW 8 54,062,431 (GRCm39) unclassified probably benign
R0533:Neil3 UTSW 8 54,091,810 (GRCm39) splice site probably null
R0943:Neil3 UTSW 8 54,062,404 (GRCm39) unclassified probably benign
R1688:Neil3 UTSW 8 54,054,069 (GRCm39) missense probably damaging 1.00
R1875:Neil3 UTSW 8 54,052,454 (GRCm39) missense probably damaging 1.00
R2238:Neil3 UTSW 8 54,052,311 (GRCm39) missense possibly damaging 0.68
R3979:Neil3 UTSW 8 54,076,699 (GRCm39) missense probably damaging 1.00
R4909:Neil3 UTSW 8 54,091,928 (GRCm39) missense probably damaging 1.00
R5069:Neil3 UTSW 8 54,054,076 (GRCm39) missense possibly damaging 0.89
R5407:Neil3 UTSW 8 54,054,054 (GRCm39) missense probably benign 0.00
R6144:Neil3 UTSW 8 54,052,447 (GRCm39) missense probably benign 0.01
R6185:Neil3 UTSW 8 54,052,182 (GRCm39) missense probably benign 0.03
R6234:Neil3 UTSW 8 54,061,774 (GRCm39) missense probably damaging 1.00
R6830:Neil3 UTSW 8 54,052,514 (GRCm39) missense probably benign 0.00
R7003:Neil3 UTSW 8 54,054,001 (GRCm39) missense possibly damaging 0.60
R8165:Neil3 UTSW 8 54,042,129 (GRCm39) missense probably benign 0.00
R8390:Neil3 UTSW 8 54,062,559 (GRCm39) missense probably damaging 1.00
R9166:Neil3 UTSW 8 54,058,722 (GRCm39) missense probably damaging 1.00
R9554:Neil3 UTSW 8 54,061,770 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGTGCCTCTGGTGAAATAG -3'
(R):5'- CCATCTGTTGTGCAATGCC -3'

Sequencing Primer
(F):5'- TCTATTAAACAAAGGGGACTGAATGC -3'
(R):5'- GTGCAATGCCAAATTACTAGTGTGAG -3'
Posted On 2018-05-04