Incidental Mutation 'R7392:Nthl1'
ID 573550
Institutional Source Beutler Lab
Gene Symbol Nthl1
Ensembl Gene ENSMUSG00000041429
Gene Name nth (endonuclease III)-like 1 (E.coli)
Synonyms Nth1
MMRRC Submission 045474-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7392 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 24851654-24857811 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24857598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 266 (V266I)
Ref Sequence ENSEMBL: ENSMUSP00000047413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002572] [ENSMUST00000019684] [ENSMUST00000047611]
AlphaFold O35980
Predicted Effect probably benign
Transcript: ENSMUST00000002572
SMART Domains Protein: ENSMUSP00000002572
Gene: ENSMUSG00000002504

DomainStartEndE-ValueType
PDZ 19 91 6.31e-21 SMART
PDZ 159 231 8.79e-20 SMART
Pfam:EBP50_C 232 284 5.1e-13 PFAM
Pfam:EBP50_C 261 337 2.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019684
SMART Domains Protein: ENSMUSP00000019684
Gene: ENSMUSG00000002504

DomainStartEndE-ValueType
PDZ 48 120 8.79e-20 SMART
Pfam:EBP50_C-term 186 226 2.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047611
AA Change: V266I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429
AA Change: V266I

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
low complexity region 24 37 N/A INTRINSIC
low complexity region 55 68 N/A INTRINSIC
ENDO3c 126 276 1.06e-58 SMART
FES 277 297 4.82e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit slower hepatic repair of thymine glycol DNA lesions after treatment with X-rays. Mutants are overtly normal, long-lived, and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,990 (GRCm39) F564L probably damaging Het
Abcc2 T C 19: 43,797,126 (GRCm39) I499T probably damaging Het
Adamts13 C T 2: 26,879,336 (GRCm39) R630C probably damaging Het
Adgrv1 A T 13: 81,708,808 (GRCm39) F1199I probably damaging Het
Agbl5 G A 5: 31,048,115 (GRCm39) probably null Het
Anks1b A G 10: 90,516,648 (GRCm39) D881G possibly damaging Het
Arap2 A T 5: 62,855,728 (GRCm39) S569R possibly damaging Het
Arhgap15 T C 2: 43,953,786 (GRCm39) S171P possibly damaging Het
Arhgef11 G A 3: 87,624,482 (GRCm39) probably null Het
Baz1a C A 12: 54,945,550 (GRCm39) L1271F probably damaging Het
Bdnf A C 2: 109,554,275 (GRCm39) K216N probably benign Het
Bmp7 C T 2: 172,711,998 (GRCm39) D409N probably damaging Het
Bnip5 A T 17: 29,127,351 (GRCm39) D219E probably benign Het
Cacna1c T A 6: 118,718,881 (GRCm39) I390F Het
Chd8 A G 14: 52,470,312 (GRCm39) S433P probably benign Het
Clrn2 A G 5: 45,621,251 (GRCm39) E215G possibly damaging Het
Col19a1 T G 1: 24,573,115 (GRCm39) D219A unknown Het
Col2a1 G A 15: 97,878,032 (GRCm39) R1036* probably null Het
Copg1 T A 6: 87,867,257 (GRCm39) V110D probably benign Het
Cpd C T 11: 76,692,605 (GRCm39) G744D probably damaging Het
Crygs G A 16: 22,625,252 (GRCm39) P63L probably benign Het
Dcn A G 10: 97,345,860 (GRCm39) D224G probably damaging Het
Dnah7a T C 1: 53,540,820 (GRCm39) E2518G probably benign Het
Efcab6 C A 15: 83,873,152 (GRCm39) R197L probably benign Het
Efr3b T A 12: 4,019,588 (GRCm39) Y723F probably benign Het
Enam A G 5: 88,649,523 (GRCm39) N344S probably damaging Het
Erich4 A G 7: 25,315,101 (GRCm39) I58T possibly damaging Het
Esrp1 A G 4: 11,338,809 (GRCm39) V665A probably benign Het
Etf1 G A 18: 35,039,103 (GRCm39) T388I probably benign Het
Faf1 A G 4: 109,652,040 (GRCm39) T244A probably benign Het
Fbn1 T C 2: 125,185,844 (GRCm39) D1610G probably damaging Het
Fcgbpl1 C T 7: 27,863,797 (GRCm39) T2523M possibly damaging Het
Frem1 G T 4: 82,932,064 (GRCm39) F212L probably benign Het
Fuom T A 7: 139,681,073 (GRCm39) D85V probably damaging Het
Gcfc2 T C 6: 81,919,993 (GRCm39) probably null Het
Gpr37 C T 6: 25,688,786 (GRCm39) A104T probably benign Het
Hsp90ab1 G C 17: 45,879,974 (GRCm39) T514S probably benign Het
Ifnl2 A G 7: 28,209,094 (GRCm39) F74L probably benign Het
Ipo11 G A 13: 107,028,199 (GRCm39) R367* probably null Het
Itpr2 T C 6: 146,260,838 (GRCm39) D963G possibly damaging Het
Krt15 A T 11: 100,026,386 (GRCm39) V100E possibly damaging Het
Lrch3 T A 16: 32,807,125 (GRCm39) L466* probably null Het
Lrfn5 A T 12: 61,887,090 (GRCm39) T293S probably benign Het
Lrp5 A G 19: 3,660,199 (GRCm39) I955T probably damaging Het
Lrrc4b C T 7: 44,111,439 (GRCm39) T437M probably damaging Het
Man1a A G 10: 53,795,283 (GRCm39) Y657H probably damaging Het
Mapkap1 G T 2: 34,325,166 (GRCm39) R94L probably damaging Het
Mtmr4 T A 11: 87,495,383 (GRCm39) L480Q probably damaging Het
Mycbp2 T C 14: 103,389,627 (GRCm39) I3504M probably damaging Het
Mycbp2 A T 14: 103,480,564 (GRCm39) C1169S probably damaging Het
Myo15a T C 11: 60,396,802 (GRCm39) S1455P Het
Niban1 A G 1: 151,571,975 (GRCm39) T307A probably damaging Het
Nid2 A G 14: 19,818,724 (GRCm39) D406G probably benign Het
Nrip2 A G 6: 128,381,913 (GRCm39) I69V probably benign Het
Or2ag16 T C 7: 106,352,589 (GRCm39) E2G possibly damaging Het
Or5an6 G T 19: 12,371,829 (GRCm39) L67F probably damaging Het
Or5b21 A G 19: 12,839,951 (GRCm39) T271A probably benign Het
Or5g23 A C 2: 85,438,832 (GRCm39) C141G possibly damaging Het
Or5p75-ps1 C A 7: 108,107,291 (GRCm39) H9Q possibly damaging Het
Or8k25 A G 2: 86,243,496 (GRCm39) V300A probably benign Het
Or8s5 A G 15: 98,238,192 (GRCm39) V226A probably benign Het
Pcdhb1 A C 18: 37,398,171 (GRCm39) S41R possibly damaging Het
Pdcd11 T A 19: 47,116,436 (GRCm39) F1529I probably damaging Het
Plcd3 C A 11: 102,992,383 (GRCm39) probably benign Het
Qdpr T C 5: 45,596,718 (GRCm39) M149V probably benign Het
R3hcc1 T A 14: 69,943,329 (GRCm39) probably null Het
Rasgrf2 T C 13: 92,041,856 (GRCm39) Y392C Het
Slc8a3 A C 12: 81,361,577 (GRCm39) V414G probably damaging Het
Slco1a6 A G 6: 142,103,003 (GRCm39) S54P probably benign Het
Sos1 C A 17: 80,731,629 (GRCm39) V624F probably damaging Het
Spdef T C 17: 27,936,262 (GRCm39) D227G probably benign Het
Sptb G T 12: 76,671,003 (GRCm39) Q447K probably damaging Het
Srsf12 A T 4: 33,209,265 (GRCm39) R62W unknown Het
Stag3 T C 5: 138,289,628 (GRCm39) L266P probably damaging Het
Sult2b1 T C 7: 45,391,862 (GRCm39) probably benign Het
Taf1a A G 1: 183,190,095 (GRCm39) T66A Het
Tfg A T 16: 56,532,972 (GRCm39) probably null Het
Trim34b A G 7: 103,985,604 (GRCm39) N413S probably benign Het
Txndc15 T A 13: 55,869,399 (GRCm39) M184K probably damaging Het
Umodl1 A C 17: 31,201,306 (GRCm39) S412R probably damaging Het
Zbtb8b T A 4: 129,326,683 (GRCm39) M161L probably benign Het
Zfp597 A T 16: 3,684,369 (GRCm39) V129E probably benign Het
Zfp790 T C 7: 29,528,050 (GRCm39) I245T possibly damaging Het
Other mutations in Nthl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Nthl1 APN 17 24,857,683 (GRCm39) missense probably damaging 1.00
IGL01658:Nthl1 APN 17 24,853,819 (GRCm39) missense probably benign 0.02
IGL02573:Nthl1 APN 17 24,852,949 (GRCm39) missense probably benign 0.00
R6295:Nthl1 UTSW 17 24,857,475 (GRCm39) missense probably damaging 1.00
R6722:Nthl1 UTSW 17 24,853,008 (GRCm39) missense probably benign 0.00
R7043:Nthl1 UTSW 17 24,857,644 (GRCm39) missense probably benign 0.30
R7713:Nthl1 UTSW 17 24,857,631 (GRCm39) missense possibly damaging 0.77
R8514:Nthl1 UTSW 17 24,853,089 (GRCm39) missense probably damaging 1.00
R9116:Nthl1 UTSW 17 24,853,753 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AATAGCCAACCGACTGAGGTG -3'
(R):5'- GGGCCAAGAAATCAACTGTG -3'

Sequencing Primer
(F):5'- CCGACTGAGGTGGACCAAG -3'
(R):5'- ACTTCCCAGGTTTATTGCAAAC -3'
Posted On 2019-09-13