Incidental Mutation 'IGL01658:Nthl1'
ID 103096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nthl1
Ensembl Gene ENSMUSG00000041429
Gene Name nth (endonuclease III)-like 1 (E.coli)
Synonyms Nth1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01658
Quality Score
Status
Chromosome 17
Chromosomal Location 24851654-24857811 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24853819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 155 (T155A)
Ref Sequence ENSEMBL: ENSMUSP00000047413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002572] [ENSMUST00000019684] [ENSMUST00000047611] [ENSMUST00000097373] [ENSMUST00000226284] [ENSMUST00000226398] [ENSMUST00000227509] [ENSMUST00000227745] [ENSMUST00000228412] [ENSMUST00000227607]
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: T155A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429
AA Change: T155A

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
Predicted Effect probably benign
Transcript: ENSMUST00000097373
SMART Domains Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496

DomainStartEndE-ValueType
Pfam:DUF3384 54 470 4e-103 PFAM
Pfam:Tuberin 555 903 5.9e-149 PFAM
low complexity region 1023 1054 N/A INTRINSIC
low complexity region 1271 1278 N/A INTRINSIC
low complexity region 1310 1328 N/A INTRINSIC
low complexity region 1330 1344 N/A INTRINSIC
low complexity region 1378 1398 N/A INTRINSIC
Pfam:Rap_GAP 1497 1685 1.3e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226284
Predicted Effect probably benign
Transcript: ENSMUST00000226398
Predicted Effect probably benign
Transcript: ENSMUST00000227509
Predicted Effect probably benign
Transcript: ENSMUST00000227745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227754
Predicted Effect probably benign
Transcript: ENSMUST00000228412
Predicted Effect probably benign
Transcript: ENSMUST00000227607
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm A G 7: 80,113,689 (GRCm39) S1203P probably damaging Het
Cdc25a C A 9: 109,705,194 (GRCm39) probably null Het
Cstf1 T A 2: 172,214,993 (GRCm39) I38N probably benign Het
Fam168a C A 7: 100,462,180 (GRCm39) P42T possibly damaging Het
Fstl5 A G 3: 76,389,562 (GRCm39) Q253R possibly damaging Het
Gpr26 C T 7: 131,585,834 (GRCm39) T268I probably benign Het
Herc2 T A 7: 55,809,200 (GRCm39) Y2567N probably damaging Het
Hspg2 C T 4: 137,292,237 (GRCm39) T4035I probably damaging Het
Iqgap3 G A 3: 88,023,278 (GRCm39) R523Q possibly damaging Het
Mad2l1 T A 6: 66,514,586 (GRCm39) V85E possibly damaging Het
Mical2 T C 7: 111,914,205 (GRCm39) Y292H probably damaging Het
Myom2 T C 8: 15,127,880 (GRCm39) S239P probably damaging Het
Ncoa3 T C 2: 165,893,222 (GRCm39) probably benign Het
Or2a14 T A 6: 43,130,784 (GRCm39) S182T probably damaging Het
Plcxd2 T G 16: 45,785,424 (GRCm39) E327A probably benign Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Satb1 C A 17: 52,082,279 (GRCm39) M458I probably benign Het
Smarcal1 T C 1: 72,625,290 (GRCm39) S146P probably benign Het
Taf4b T C 18: 14,977,477 (GRCm39) S750P probably damaging Het
Tha1 A G 11: 117,762,438 (GRCm39) L102P probably damaging Het
Trf A G 9: 103,104,055 (GRCm39) F103L probably benign Het
Trim2 T C 3: 84,117,592 (GRCm39) I8V probably benign Het
Usf1 C T 1: 171,244,867 (GRCm39) S177L possibly damaging Het
Usp12 T C 5: 146,688,739 (GRCm39) D205G probably damaging Het
Vps13b A G 15: 35,671,479 (GRCm39) T1661A probably damaging Het
Other mutations in Nthl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Nthl1 APN 17 24,857,683 (GRCm39) missense probably damaging 1.00
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
R7392:Nthl1 UTSW 17 24,857,598 (GRCm39) missense probably benign
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
Posted On 2014-01-21