Incidental Mutation 'IGL01874:Ntan1'
ID178822
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? Not available question?
Stock #IGL01874
Quality Score
Status
Chromosome16
Chromosomal Location13818845-13835451 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 13835213 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 278 (F278L)
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 benign
Transcript: ENSMUST00000023362
AA Change: F278L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000023362
Gene: ENSMUSG00000022681
AA Change: F278L

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
AA Change: F240L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000111472
Gene: ENSMUSG00000022681
AA Change: F240L

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A T 13: 70,768,704 V723D possibly damaging Het
Adgrb1 G A 15: 74,541,574 V536I possibly damaging Het
Aox4 T C 1: 58,252,084 L787S probably damaging Het
Atp2c1 A C 9: 105,448,825 V293G probably damaging Het
Ccnb1 T C 13: 100,783,493 D170G probably damaging Het
Cdc42 T C 4: 137,336,070 I4V probably benign Het
Clip1 T C 5: 123,603,666 Q1175R possibly damaging Het
Cox6a1 A G 5: 115,345,845 *113Q probably null Het
Crtc2 C T 3: 90,258,508 P139L probably damaging Het
Cyp8b1 A T 9: 121,915,903 M121K possibly damaging Het
D630003M21Rik C A 2: 158,204,724 G778C probably damaging Het
Dgat1 A G 15: 76,503,041 F349L probably damaging Het
Enox1 A G 14: 77,579,162 Y194C probably damaging Het
Fam120b T A 17: 15,403,039 C426* probably null Het
Fam129b A T 2: 32,905,767 probably null Het
Fxyd3 A G 7: 31,070,893 probably benign Het
Gin1 A G 1: 97,783,072 Y160C probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11110 T A 17: 57,092,693 probably benign Het
Gm1818 T C 12: 48,556,190 noncoding transcript Het
Gucy1a2 T C 9: 3,797,343 S598P probably damaging Het
Hook3 T A 8: 26,039,732 N199Y possibly damaging Het
Il10ra A G 9: 45,267,160 L41P probably damaging Het
Itgam C T 7: 128,115,166 T949I probably damaging Het
Kctd3 A G 1: 188,996,991 V123A probably damaging Het
Krt84 G A 15: 101,527,804 A450V probably damaging Het
Lrrc7 G A 3: 158,240,443 probably benign Het
Nckap1 A G 2: 80,525,636 F608L probably damaging Het
Nmbr A T 10: 14,766,952 Y85F probably benign Het
Nol6 A C 4: 41,115,412 L1135R probably damaging Het
Olfr138 T A 17: 38,275,517 S249T probably benign Het
Pcsk5 T A 19: 17,595,677 T474S probably damaging Het
Pex11b T A 3: 96,643,567 probably null Het
Pkhd1 G T 1: 20,103,235 A3786E probably benign Het
Prkdc T C 16: 15,734,994 I2098T possibly damaging Het
Prl2c5 T A 13: 13,190,777 S169R probably benign Het
Ptbp2 A G 3: 119,747,800 V196A probably damaging Het
Rad17 T C 13: 100,617,684 probably benign Het
Skiv2l T C 17: 34,841,209 N114D probably benign Het
Slc47a2 T A 11: 61,312,859 probably null Het
Srcin1 A T 11: 97,533,098 M684K possibly damaging Het
Sspo T A 6: 48,452,190 C298S probably damaging Het
Tenm3 G T 8: 48,236,758 Y1915* probably null Het
Tnks1bp1 A G 2: 85,058,447 T373A probably benign Het
Trp63 A C 16: 25,882,585 N470H possibly damaging Het
Ttn T C 2: 76,798,563 N12703S probably damaging Het
Ubr4 T C 4: 139,393,289 probably benign Het
Vmn2r56 T A 7: 12,715,675 Y212F probably benign Het
Other mutations in Ntan1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01627:Ntan1 APN 16 13834739 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
IGL03200:Ntan1 APN 16 13834727 missense probably damaging 1.00
R7038:Ntan1 UTSW 16 13826910 missense probably benign
Posted On2014-05-07