Incidental Mutation 'R6889:Azi2'
ID 537117
Institutional Source Beutler Lab
Gene Symbol Azi2
Ensembl Gene ENSMUSG00000039285
Gene Name 5-azacytidine induced gene 2
Synonyms AZ2
MMRRC Submission 044983-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R6889 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 117869567-117898862 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 117878963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044454] [ENSMUST00000133580] [ENSMUST00000134433] [ENSMUST00000135251] [ENSMUST00000154583]
AlphaFold Q9QYP6
Predicted Effect probably null
Transcript: ENSMUST00000044454
SMART Domains Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 40 197 N/A INTRINSIC
Pfam:TBD 224 278 4.2e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000130735
SMART Domains Protein: ENSMUSP00000114634
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 22 123 N/A INTRINSIC
Pfam:TBD 153 197 3.8e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133580
SMART Domains Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 40 197 N/A INTRINSIC
Pfam:TBD 226 278 1.1e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000134433
SMART Domains Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 40 197 N/A INTRINSIC
Pfam:TBD 224 273 1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135251
SMART Domains Protein: ENSMUSP00000116971
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 20 50 N/A INTRINSIC
Pfam:TBD 77 131 1.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154583
SMART Domains Protein: ENSMUSP00000122063
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 40 83 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired GM-CSF-derived bone marrow-derived dendritic cell differenatiation, cytokine response and ability to stimulate T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,861,290 (GRCm39) D103E probably benign Het
Abcc3 A T 11: 94,266,381 (GRCm39) S70T possibly damaging Het
Atp6v0a1 A G 11: 100,920,009 (GRCm39) Y214C possibly damaging Het
Cacnb2 T A 2: 14,990,826 (GRCm39) V636E possibly damaging Het
Cd8a A C 6: 71,351,546 (GRCm39) T169P probably damaging Het
Cfap44 G A 16: 44,224,495 (GRCm39) V68I probably benign Het
Cspg4b C A 13: 113,454,912 (GRCm39) S319R probably damaging Het
Dnaaf10 G A 11: 17,172,309 (GRCm39) V133M probably damaging Het
Eea1 G T 10: 95,873,340 (GRCm39) C1134F probably benign Het
Ehmt2 T G 17: 35,131,748 (GRCm39) F1192V probably damaging Het
Emc1 T C 4: 139,092,661 (GRCm39) F531L probably damaging Het
Eme1 G A 11: 94,541,303 (GRCm39) T173I probably benign Het
Gli2 A T 1: 118,772,146 (GRCm39) C520S probably damaging Het
Gm43302 T C 5: 105,428,004 (GRCm39) K186E probably benign Het
Gpr108 A T 17: 57,543,990 (GRCm39) N405K probably damaging Het
Hmgcl C A 4: 135,682,953 (GRCm39) T135N probably benign Het
Hydin G A 8: 111,259,488 (GRCm39) D2487N possibly damaging Het
Igfl3 G T 7: 17,913,725 (GRCm39) R25L probably benign Het
Igsf10 A C 3: 59,239,354 (GRCm39) S276A probably benign Het
Kctd1 A G 18: 15,107,045 (GRCm39) S211P probably damaging Het
Kctd7 A T 5: 130,181,342 (GRCm39) Q255L probably benign Het
Lrig1 A G 6: 94,602,044 (GRCm39) Y270H probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myh15 A G 16: 48,973,474 (GRCm39) N1248S possibly damaging Het
Nod1 A G 6: 54,921,094 (GRCm39) F408S probably benign Het
Nrp1 T C 8: 129,219,538 (GRCm39) F652S probably damaging Het
Opa1 G T 16: 29,439,686 (GRCm39) R792L probably benign Het
Or10ak14 G A 4: 118,611,504 (GRCm39) T79I probably damaging Het
Or51t4 A T 7: 102,597,975 (GRCm39) H91L possibly damaging Het
Or5p63 A T 7: 107,811,125 (GRCm39) F204I probably benign Het
Or6c74 T C 10: 129,870,401 (GRCm39) M302T probably benign Het
Pcdha6 G T 18: 37,101,396 (GRCm39) L196F probably damaging Het
Pdia2 A T 17: 26,415,944 (GRCm39) Y347* probably null Het
Pdpr G T 8: 111,851,245 (GRCm39) probably null Het
Pigt T A 2: 164,349,251 (GRCm39) L518Q probably damaging Het
Ppfibp2 A C 7: 107,337,188 (GRCm39) D591A possibly damaging Het
Prrg2 G A 7: 44,709,413 (GRCm39) T97M possibly damaging Het
Qars1 A G 9: 108,390,382 (GRCm39) T428A probably damaging Het
Rai1 T C 11: 60,076,541 (GRCm39) F202L probably damaging Het
Rars1 A T 11: 35,699,313 (GRCm39) M660K probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc16a6 A C 11: 109,345,866 (GRCm39) F382V probably damaging Het
Slc30a7 T C 3: 115,747,802 (GRCm39) T330A probably damaging Het
Smc1b A T 15: 84,951,960 (GRCm39) L1157Q probably damaging Het
Snx4 G T 16: 33,071,840 (GRCm39) A4S possibly damaging Het
Sv2b A C 7: 74,775,515 (GRCm39) probably null Het
Syt9 A T 7: 107,024,493 (GRCm39) I129L probably damaging Het
Ttbk2 T C 2: 120,603,834 (GRCm39) E198G probably damaging Het
Ubr3 A T 2: 69,774,644 (GRCm39) D488V possibly damaging Het
Ush2a T A 1: 188,530,068 (GRCm39) C3286S probably damaging Het
Vill A G 9: 118,894,950 (GRCm39) D56G possibly damaging Het
Vmn1r41 A T 6: 89,724,352 (GRCm39) I298F probably damaging Het
Vmn2r2 A T 3: 64,024,688 (GRCm39) V631D probably damaging Het
Vmn2r32 A G 7: 7,475,573 (GRCm39) S437P possibly damaging Het
Vmn2r53 A G 7: 12,335,069 (GRCm39) V197A probably benign Het
Wasf1 A T 10: 40,796,365 (GRCm39) I32F probably damaging Het
Wasf2 G T 4: 132,922,041 (GRCm39) A387S unknown Het
Zbtb14 G A 17: 69,694,674 (GRCm39) C124Y probably damaging Het
Zfp462 G T 4: 55,007,671 (GRCm39) A37S probably damaging Het
Zfp532 A G 18: 65,820,061 (GRCm39) E882G possibly damaging Het
Other mutations in Azi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03085:Azi2 APN 9 117,888,214 (GRCm39) missense probably damaging 0.97
awry UTSW 9 117,876,487 (GRCm39) start codon destroyed probably null 0.99
R0166:Azi2 UTSW 9 117,884,909 (GRCm39) missense possibly damaging 0.82
R0636:Azi2 UTSW 9 117,891,125 (GRCm39) missense probably benign 0.03
R2024:Azi2 UTSW 9 117,878,390 (GRCm39) nonsense probably null
R3498:Azi2 UTSW 9 117,878,475 (GRCm39) missense probably damaging 0.99
R3713:Azi2 UTSW 9 117,876,508 (GRCm39) missense possibly damaging 0.65
R3899:Azi2 UTSW 9 117,876,571 (GRCm39) missense probably damaging 1.00
R4765:Azi2 UTSW 9 117,890,539 (GRCm39) unclassified probably benign
R5227:Azi2 UTSW 9 117,876,526 (GRCm39) missense probably damaging 1.00
R5839:Azi2 UTSW 9 117,888,187 (GRCm39) missense probably damaging 1.00
R5885:Azi2 UTSW 9 117,876,628 (GRCm39) missense probably damaging 1.00
R6021:Azi2 UTSW 9 117,876,487 (GRCm39) start codon destroyed probably null 0.99
R6276:Azi2 UTSW 9 117,878,406 (GRCm39) missense probably damaging 0.96
R6408:Azi2 UTSW 9 117,890,550 (GRCm39) nonsense probably null
R6525:Azi2 UTSW 9 117,876,663 (GRCm39) missense probably damaging 0.96
R7391:Azi2 UTSW 9 117,879,960 (GRCm39) splice site probably null
R7693:Azi2 UTSW 9 117,876,661 (GRCm39) missense probably damaging 1.00
R7889:Azi2 UTSW 9 117,890,983 (GRCm39) missense probably benign 0.20
R8042:Azi2 UTSW 9 117,891,165 (GRCm39) missense probably benign 0.01
R8142:Azi2 UTSW 9 117,878,475 (GRCm39) missense probably damaging 0.99
R8784:Azi2 UTSW 9 117,884,960 (GRCm39) missense probably benign
R8929:Azi2 UTSW 9 117,879,044 (GRCm39) missense probably damaging 1.00
R9800:Azi2 UTSW 9 117,884,924 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- AAGTCACGACAAGGTTGTTGC -3'
(R):5'- CTCATATGAGTGCCACACAATGGAG -3'

Sequencing Primer
(F):5'- ACGACAAGGTTGTTGCTTACTC -3'
(R):5'- CACACAATGGAGAGATGGATCAATTC -3'
Posted On 2018-10-18