Incidental Mutation 'IGL03200:Ntan1'
ID412943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ntan1
Ensembl Gene ENSMUSG00000022681
Gene NameN-terminal Asn amidase
Synonymsasparagine-specific N-terminal amidase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03200
Quality Score
Status
Chromosome16
Chromosomal Location13818845-13835451 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 13834727 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 229 (P229L)
Ref Sequence ENSEMBL: ENSMUSP00000023362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023361] [ENSMUST00000023362] [ENSMUST00000115804] [ENSMUST00000115805]
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 damaging
Transcript: ENSMUST00000023362
AA Change: P229L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023362
Gene: ENSMUSG00000022681
AA Change: P229L

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: ENSMUST00000124860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154150
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,965,254 probably benign Het
Degs1 A T 1: 182,279,691 M1K probably null Het
Eif3e A T 15: 43,252,261 W370R probably damaging Het
H2-M10.6 G A 17: 36,814,016 G275E probably damaging Het
Itga8 C T 2: 12,191,199 V647I probably benign Het
Kcnip2 T G 19: 45,794,063 K190Q probably damaging Het
Mbd1 T G 18: 74,276,431 S251A probably benign Het
Mcpt9 T A 14: 56,026,933 H235L probably benign Het
Ndst1 A T 18: 60,699,539 I573N possibly damaging Het
Rbl2 T C 8: 91,096,767 I441T probably benign Het
Sulf1 C T 1: 12,786,617 R31* probably null Het
Taok1 G A 11: 77,575,652 Q124* probably null Het
Thegl T A 5: 77,060,864 V413D possibly damaging Het
Tmem140 A G 6: 34,872,879 E110G possibly damaging Het
U2surp G A 9: 95,491,391 R242* probably null Het
Ywhag G A 5: 135,911,060 R227* probably null Het
Zfp456 C T 13: 67,366,477 R370H probably benign Het
Other mutations in Ntan1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Ntan1 APN 16 13834739 missense probably benign 0.00
IGL01874:Ntan1 APN 16 13835213 missense probably benign 0.00
IGL02113:Ntan1 APN 16 13835144 missense probably damaging 1.00
IGL02386:Ntan1 APN 16 13835199 missense probably benign 0.12
IGL02485:Ntan1 APN 16 13834676 intron probably benign
R7038:Ntan1 UTSW 16 13826910 missense probably benign
Posted On2016-08-02