Incidental Mutation 'IGL01627:Ntan1'
ID 92793
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 # IGL01627
Quality Score
Status
Chromosome 16
Chromosomal Location 13636709-13653315 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13652603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 233 (T233M)
Ref Sequence ENSEMBL: ENSMUSP00000023362 (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
AA Change: T233M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023362
Gene: ENSMUSG00000022681
AA Change: T233M

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: ENSMUST00000145248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136618
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Casp9 T C 4: 141,532,853 (GRCm39) probably benign Het
Ccdc186 G A 19: 56,780,452 (GRCm39) T864I probably damaging Het
Cgas A T 9: 78,349,996 (GRCm39) V57E possibly damaging Het
Chek1 T A 9: 36,635,191 (GRCm39) H64L probably damaging Het
Chsy3 T C 18: 59,309,367 (GRCm39) S207P probably damaging Het
Clec4n A G 6: 123,221,433 (GRCm39) probably benign Het
Col9a1 G A 1: 24,218,689 (GRCm39) probably null Het
Dgkd A G 1: 87,808,150 (GRCm39) R73G probably damaging Het
Dmbt1 A T 7: 130,682,915 (GRCm39) T562S probably benign Het
Epb42 T C 2: 120,856,324 (GRCm39) T407A probably benign Het
Eps8l3 A G 3: 107,788,487 (GRCm39) D58G probably damaging Het
Fuca1 A T 4: 135,652,862 (GRCm39) N162I possibly damaging Het
Gramd1a T C 7: 30,839,221 (GRCm39) D229G probably damaging Het
Grin1 A G 2: 25,208,709 (GRCm39) S64P probably damaging Het
Hgd T G 16: 37,442,287 (GRCm39) V243G probably damaging Het
Il23r A T 6: 67,400,412 (GRCm39) N639K probably benign Het
Il33 A G 19: 29,929,390 (GRCm39) T38A possibly damaging Het
Mycbpap T C 11: 94,405,430 (GRCm39) E33G probably damaging Het
Npas1 C T 7: 16,199,111 (GRCm39) G148D probably damaging Het
Or6c5 A T 10: 129,074,138 (GRCm39) N40I probably damaging Het
Plscr1l1 A T 9: 92,229,864 (GRCm39) I23F probably damaging Het
Pou2f1 A T 1: 165,708,002 (GRCm39) probably benign Het
Rims4 T C 2: 163,706,022 (GRCm39) Y204C probably damaging Het
Selp A G 1: 163,971,461 (GRCm39) probably null Het
Senp7 A G 16: 55,992,219 (GRCm39) E725G probably damaging Het
Snx31 A T 15: 36,517,818 (GRCm39) F366Y probably damaging Het
Spats2l A G 1: 57,941,241 (GRCm39) probably benign Het
Tssk4 T C 14: 55,888,010 (GRCm39) F69L probably damaging Het
Ugt3a1 T C 15: 9,335,806 (GRCm39) L9P probably damaging Het
Vmn2r76 A T 7: 85,874,871 (GRCm39) I702N probably damaging Het
Vps18 C A 2: 119,127,672 (GRCm39) R832S probably benign Het
Xpo6 A G 7: 125,748,506 (GRCm39) L375P probably damaging Het
Zfp462 C A 4: 55,008,912 (GRCm39) P293T possibly damaging Het
Zyg11b T C 4: 108,107,985 (GRCm39) I474V probably benign Het
Other mutations in Ntan1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02485:Ntan1 APN 16 13,652,540 (GRCm39) intron probably benign
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 2013-12-09