Incidental Mutation 'R0166:Azi2'
ID 50130
Institutional Source Beutler Lab
Gene Symbol Azi2
Ensembl Gene ENSMUSG00000039285
Gene Name 5-azacytidine induced gene 2
Synonyms AZ2
MMRRC Submission 038442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R0166 (G1)
Quality Score 48
Status Validated (trace)
Chromosome 9
Chromosomal Location 117869567-117898862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 117884909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 132 (Q132L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044454] [ENSMUST00000133580] [ENSMUST00000135251] [ENSMUST00000134433] [ENSMUST00000154583]
AlphaFold Q9QYP6
Predicted Effect probably benign
Transcript: ENSMUST00000044454
AA Change: Q206L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285
AA Change: Q206L

DomainStartEndE-ValueType
coiled coil region 40 197 N/A INTRINSIC
Pfam:TBD 224 278 4.2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123690
SMART Domains Protein: ENSMUSP00000121245
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
Pfam:TBD 1 51 4.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127189
Predicted Effect possibly damaging
Transcript: ENSMUST00000130735
AA Change: Q132L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114634
Gene: ENSMUSG00000039285
AA Change: Q132L

DomainStartEndE-ValueType
coiled coil region 22 123 N/A INTRINSIC
Pfam:TBD 153 197 3.8e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133580
AA Change: Q206L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285
AA Change: Q206L

DomainStartEndE-ValueType
coiled coil region 40 197 N/A INTRINSIC
Pfam:TBD 226 278 1.1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133814
Predicted Effect possibly damaging
Transcript: ENSMUST00000135251
AA Change: Q59L

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116971
Gene: ENSMUSG00000039285
AA Change: Q59L

DomainStartEndE-ValueType
coiled coil region 20 50 N/A INTRINSIC
Pfam:TBD 77 131 1.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134433
AA Change: Q206L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285
AA Change: Q206L

DomainStartEndE-ValueType
coiled coil region 40 197 N/A INTRINSIC
Pfam:TBD 224 273 1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154583
SMART Domains Protein: ENSMUSP00000122063
Gene: ENSMUSG00000039285

DomainStartEndE-ValueType
coiled coil region 40 83 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 91% (49/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,903,468 (GRCm39) F1040L probably damaging Het
Adamts7 A G 9: 90,075,745 (GRCm39) N1201S probably benign Het
Ahnak C T 19: 8,983,089 (GRCm39) P1458S probably damaging Het
Akap6 T C 12: 53,187,707 (GRCm39) V1707A probably benign Het
Akr1c21 T A 13: 4,631,263 (GRCm39) V266E probably damaging Het
Arap2 A C 5: 62,833,361 (GRCm39) C894G probably damaging Het
Atp2a2 T C 5: 122,604,901 (GRCm39) D426G possibly damaging Het
Carmil1 C T 13: 24,283,032 (GRCm39) D91N probably damaging Het
Cnot7 A T 8: 40,960,494 (GRCm39) probably null Het
Cntnap5b A G 1: 100,202,086 (GRCm39) E311G probably benign Het
Csmd1 A G 8: 16,283,036 (GRCm39) V640A probably benign Het
Cst7 T C 2: 150,417,647 (GRCm39) S31P probably benign Het
Cyp7b1 T A 3: 18,151,530 (GRCm39) I228L probably benign Het
Ddx28 G A 8: 106,736,921 (GRCm39) T379I probably benign Het
Drd1 T A 13: 54,207,600 (GRCm39) I205F probably damaging Het
Flnb T A 14: 7,896,115 (GRCm38) V837D probably damaging Het
Fsd1l A G 4: 53,647,664 (GRCm39) probably null Het
Fubp1 T A 3: 151,925,841 (GRCm39) Y264* probably null Het
Gbp5 T A 3: 142,212,680 (GRCm39) probably null Het
Gm7094 A G 1: 21,342,958 (GRCm39) noncoding transcript Het
Gpr55 A G 1: 85,868,858 (GRCm39) V241A probably benign Het
Impa1 C T 3: 10,394,020 (GRCm39) A16T probably damaging Het
Llgl2 T C 11: 115,735,680 (GRCm39) L92P probably damaging Het
Ltbp2 T A 12: 84,833,132 (GRCm39) Q1472L probably benign Het
Lyplal1 A T 1: 185,820,943 (GRCm39) M168K probably benign Het
Macc1 A T 12: 119,410,815 (GRCm39) R528* probably null Het
Mdm1 T A 10: 118,002,585 (GRCm39) D635E probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mrpl23 C T 7: 142,088,851 (GRCm39) R69W probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nr0b2 A G 4: 133,281,049 (GRCm39) Q105R probably damaging Het
Or8b53 T A 9: 38,667,484 (GRCm39) S167T probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Pcdhb14 A T 18: 37,581,542 (GRCm39) probably null Het
Plxna1 A G 6: 89,310,001 (GRCm39) W1055R probably damaging Het
Pramel22 T A 4: 143,381,081 (GRCm39) H314L probably benign Het
Prdm1 C T 10: 44,316,087 (GRCm39) R716Q probably damaging Het
Proser1 C A 3: 53,388,038 (GRCm39) Q909K possibly damaging Het
Pus10 T A 11: 23,617,358 (GRCm39) C24S probably damaging Het
Rpl27 T A 11: 101,336,146 (GRCm39) F69I possibly damaging Het
Sctr A T 1: 119,983,124 (GRCm39) I325F probably damaging Het
Slc49a4 G A 16: 35,539,684 (GRCm39) T379I possibly damaging Het
Slc5a3 G A 16: 91,874,581 (GRCm39) V213I possibly damaging Het
Spib G T 7: 44,179,324 (GRCm39) D28E probably damaging Het
Spic T C 10: 88,511,579 (GRCm39) S226G possibly damaging Het
Tet1 T A 10: 62,676,058 (GRCm39) T673S probably benign Het
Tph1 A G 7: 46,297,020 (GRCm39) F392L probably damaging Het
Ttc28 T C 5: 111,373,500 (GRCm39) S979P probably benign Het
Unc79 T C 12: 103,122,812 (GRCm39) L2110P probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Zfp467 T C 6: 48,415,615 (GRCm39) T346A probably benign 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
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
R6889:Azi2 UTSW 9 117,878,963 (GRCm39) critical splice acceptor site probably null
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'- TAAGCCGCCAGTGTCCATCTACAG -3'
(R):5'- AGGTCACAGTTGCATACAGAATGCTC -3'

Sequencing Primer
(F):5'- GTGCAGAAATTCCCATTTTCCCATAG -3'
(R):5'- TGCATACAGAATGCTCCCTCC -3'
Posted On 2013-06-14