Incidental Mutation 'R5500:Ntaq1'
ID 430580
Institutional Source Beutler Lab
Gene Symbol Ntaq1
Ensembl Gene ENSMUSG00000022359
Gene Name N-terminal glutamine amidase 1
Synonyms 2410187C16Rik, Wdyhv1
MMRRC Submission 043061-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5500 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 58004773-58022061 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58016006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 85 (V85A)
Ref Sequence ENSEMBL: ENSMUSP00000064622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067563] [ENSMUST00000226889] [ENSMUST00000226955] [ENSMUST00000227142] [ENSMUST00000228761]
AlphaFold Q80WB5
Predicted Effect possibly damaging
Transcript: ENSMUST00000067563
AA Change: V85A

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064622
Gene: ENSMUSG00000022359
AA Change: V85A

DomainStartEndE-ValueType
Pfam:Nt_Gln_amidase 25 202 2.9e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226425
Predicted Effect probably benign
Transcript: ENSMUST00000226889
Predicted Effect probably benign
Transcript: ENSMUST00000226955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227048
Predicted Effect possibly damaging
Transcript: ENSMUST00000227142
AA Change: V85A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228693
Predicted Effect probably benign
Transcript: ENSMUST00000228761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227615
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit abnormal behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,451,508 (GRCm39) Q864L probably benign Het
AI182371 A G 2: 34,990,650 (GRCm39) S16P probably damaging Het
Amy1 A T 3: 113,356,371 (GRCm39) Y262N probably damaging Het
Cdh23 T C 10: 60,150,090 (GRCm39) D2583G probably damaging Het
Ddx60 A G 8: 62,403,485 (GRCm39) K303E probably benign Het
Dis3l2 T C 1: 86,948,841 (GRCm39) probably null Het
Evi5l T A 8: 4,241,658 (GRCm39) M329K probably damaging Het
Fam169b A G 7: 68,000,117 (GRCm39) D221G probably damaging Het
Farsb T C 1: 78,447,761 (GRCm39) D126G probably damaging Het
Gm4847 A G 1: 166,462,611 (GRCm39) I293T probably damaging Het
Ighmbp2 T C 19: 3,318,687 (GRCm39) H463R possibly damaging Het
Iigp1c G A 18: 60,379,092 (GRCm39) R209H probably damaging Het
Kank1 A T 19: 25,401,696 (GRCm39) D1101V possibly damaging Het
Kcnh8 G A 17: 53,033,008 (GRCm39) M98I probably benign Het
Kdsr A G 1: 106,687,374 (GRCm39) probably benign Het
Kif18b A T 11: 102,806,526 (GRCm39) V107E probably damaging Het
Klhl41 A G 2: 69,513,873 (GRCm39) E584G probably damaging Het
Kpnb1 G A 11: 97,063,937 (GRCm39) A389V possibly damaging Het
Krtap31-2 A G 11: 99,827,173 (GRCm39) T2A possibly damaging Het
Lama3 A T 18: 12,589,821 (GRCm39) I784F possibly damaging Het
Lpar1 G A 4: 58,486,573 (GRCm39) R233C probably benign Het
Neb C A 2: 52,052,079 (GRCm39) probably null Het
Neo1 A G 9: 58,824,337 (GRCm39) I697T possibly damaging Het
Pgm2l1 T G 7: 99,917,340 (GRCm39) S486A probably benign Het
Prpf40a A T 2: 53,035,296 (GRCm39) S748R probably benign Het
Recql4 A G 15: 76,589,778 (GRCm39) probably benign Het
Rhbdl1 T C 17: 26,055,528 (GRCm39) T20A possibly damaging Het
Ric8a T C 7: 140,438,228 (GRCm39) Y156H probably benign Het
Rnf111 C A 9: 70,383,325 (GRCm39) G203C possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc2a12 G A 10: 22,541,036 (GRCm39) G297E probably damaging Het
Slc35f1 A T 10: 52,809,318 (GRCm39) I102F probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slitrk3 T C 3: 72,957,680 (GRCm39) Y364C probably damaging Het
Tdrd9 T C 12: 111,989,702 (GRCm39) Y505H probably benign Het
Tlr1 G T 5: 65,084,441 (GRCm39) D45E probably benign Het
Upp1 G A 11: 9,081,774 (GRCm39) V104M probably damaging Het
Usp9y A G Y: 1,341,875 (GRCm39) V1330A probably damaging Het
Zbed5 T A 5: 129,930,823 (GRCm39) Y257* probably null Het
Other mutations in Ntaq1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02802:Ntaq1 APN 15 58,011,833 (GRCm39) missense probably benign 0.01
R1588:Ntaq1 UTSW 15 58,021,285 (GRCm39) splice site probably null
R2510:Ntaq1 UTSW 15 58,017,020 (GRCm39) missense probably damaging 1.00
R4342:Ntaq1 UTSW 15 58,016,110 (GRCm39) missense probably benign 0.21
R4586:Ntaq1 UTSW 15 58,011,740 (GRCm39) missense probably damaging 1.00
R5844:Ntaq1 UTSW 15 58,017,056 (GRCm39) missense probably benign 0.01
R6086:Ntaq1 UTSW 15 58,014,024 (GRCm39) missense probably damaging 0.99
R6449:Ntaq1 UTSW 15 58,013,994 (GRCm39) splice site probably null
R6877:Ntaq1 UTSW 15 58,017,074 (GRCm39) missense probably damaging 1.00
R7308:Ntaq1 UTSW 15 58,016,006 (GRCm39) missense possibly damaging 0.86
R8085:Ntaq1 UTSW 15 58,015,983 (GRCm39) splice site probably null
R9043:Ntaq1 UTSW 15 58,014,004 (GRCm39) missense possibly damaging 0.71
R9776:Ntaq1 UTSW 15 58,004,913 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GAACCATTTCCCGGTCACTG -3'
(R):5'- CTGTGTAAACACCAAGTCTTACTTC -3'

Sequencing Primer
(F):5'- CGGTCACTGGCCGTTTTTCAG -3'
(R):5'- ACCAAGTCTTACTTCAGAAAATCAG -3'
Posted On 2016-10-05