Incidental Mutation 'IGL02485:Ntan1'
ID 295406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntan1
Ensembl Gene ENSMUSG00000022681
Gene Name N-terminal Asn amidase
Synonyms asparagine-specific N-terminal amidase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02485
Quality Score
Status
Chromosome 16
Chromosomal Location 13636709-13653315 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 13652540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023361] [ENSMUST00000023362] [ENSMUST00000115804] [ENSMUST00000115805]
AlphaFold Q64311
Predicted Effect probably benign
Transcript: ENSMUST00000023361
SMART Domains Protein: ENSMUSP00000023361
Gene: ENSMUSG00000022680

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 166 310 2.6e-12 PFAM
coiled coil region 610 631 N/A INTRINSIC
low complexity region 683 695 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000023362
SMART Domains Protein: ENSMUSP00000023362
Gene: ENSMUSG00000022681

DomainStartEndE-ValueType
Pfam:N_Asn_amidohyd 36 304 1.3e-124 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115804
SMART Domains Protein: ENSMUSP00000111471
Gene: ENSMUSG00000022680

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 154 308 5.5e-15 PFAM
coiled coil region 610 631 N/A INTRINSIC
low complexity region 683 695 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115805
SMART Domains Protein: ENSMUSP00000111472
Gene: ENSMUSG00000022681

DomainStartEndE-ValueType
Pfam:N_Asn_amidohyd 32 215 1.4e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127432
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene functions in a step-wise protein degradation process through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asparagine residues on proteins to produce N-terminal L-Aspartate. L-Aspartate substrates are subsequently conjugated to L-Arginine, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Mice with a knock-out of this gene are viable, fertile, and outwardly normal, but show impairments in spontaneous activity and spatial memory, relative to their wild-type counterparts. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mutant mice exhibit behavioral and learning defects including abnormal spontaneous activity, impaired spatial memory, and reduced exploratory activity in the presence of conspecifics. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,572,729 (GRCm39) S841P probably benign Het
Cd59b A C 2: 103,911,449 (GRCm39) probably benign Het
Dop1b T C 16: 93,567,710 (GRCm39) L1379P probably damaging Het
Ercc2 G A 7: 19,127,970 (GRCm39) A433T possibly damaging Het
Gm17175 T C 14: 51,807,068 (GRCm39) probably benign Het
Gm5150 A T 3: 16,044,916 (GRCm39) I103N probably damaging Het
Igf1 A G 10: 87,700,608 (GRCm39) M11V probably benign Het
Incenp T C 19: 9,870,732 (GRCm39) N299S unknown Het
Maneal A T 4: 124,750,563 (GRCm39) S398T probably damaging Het
Map1a A G 2: 121,129,769 (GRCm39) N195S probably damaging Het
Mars2 T C 1: 55,276,750 (GRCm39) F118L possibly damaging Het
Mast4 A G 13: 102,872,004 (GRCm39) S2263P probably benign Het
Mrgprb1 C A 7: 48,097,465 (GRCm39) R149L possibly damaging Het
Myo1d T C 11: 80,557,407 (GRCm39) D511G probably damaging Het
Nxf2 A G X: 133,857,216 (GRCm39) F158L probably damaging Het
Odr4 A G 1: 150,239,240 (GRCm39) probably null Het
Or10g3b T A 14: 52,587,501 (GRCm39) M1L possibly damaging Het
Potefam1 A T 2: 111,058,670 (GRCm39) V94E probably damaging Het
Trpm1 C T 7: 63,918,862 (GRCm39) A734V possibly damaging Het
Upf2 G A 2: 6,032,102 (GRCm39) E883K unknown Het
Ush1c T C 7: 45,878,674 (GRCm39) I83V probably damaging Het
Vmn2r60 C A 7: 41,844,890 (GRCm39) T751N possibly damaging Het
Zfp146 A G 7: 29,862,015 (GRCm39) I9T probably benign Het
Zfp592 G A 7: 80,687,718 (GRCm39) probably benign Het
Zswim8 C T 14: 20,761,955 (GRCm39) L243F probably damaging Het
Other mutations in Ntan1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Ntan1 APN 16 13,652,603 (GRCm39) missense probably benign 0.00
IGL01874:Ntan1 APN 16 13,653,077 (GRCm39) missense probably benign 0.00
IGL02113:Ntan1 APN 16 13,653,008 (GRCm39) missense probably damaging 1.00
IGL02386:Ntan1 APN 16 13,653,063 (GRCm39) missense probably benign 0.12
IGL03200:Ntan1 APN 16 13,652,591 (GRCm39) missense probably damaging 1.00
R7038:Ntan1 UTSW 16 13,644,774 (GRCm39) missense probably benign
R9570:Ntan1 UTSW 16 13,637,248 (GRCm39) missense possibly damaging 0.50
Posted On 2015-04-16