Incidental Mutation 'IGL03085:Azi2'
ID 418076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Azi2
Ensembl Gene ENSMUSG00000039285
Gene Name 5-azacytidine induced gene 2
Synonyms AZ2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL03085
Quality Score
Status
Chromosome 9
Chromosomal Location 117869567-117898862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 117888214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 259 (K259T)
Ref Sequence ENSEMBL: ENSMUSP00000114980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044454] [ENSMUST00000133580] [ENSMUST00000134433] [ENSMUST00000135251] [ENSMUST00000154583]
AlphaFold Q9QYP6
Predicted Effect possibly damaging
Transcript: ENSMUST00000044454
AA Change: K259T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285
AA Change: K259T

DomainStartEndE-ValueType
coiled coil region 40 197 N/A INTRINSIC
Pfam:TBD 224 278 4.2e-27 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000123690
AA Change: K30T
SMART Domains Protein: ENSMUSP00000121245
Gene: ENSMUSG00000039285
AA Change: K30T

DomainStartEndE-ValueType
Pfam:TBD 1 51 4.7e-23 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000130735
AA Change: K185T
SMART Domains Protein: ENSMUSP00000114634
Gene: ENSMUSG00000039285
AA Change: K185T

DomainStartEndE-ValueType
coiled coil region 22 123 N/A INTRINSIC
Pfam:TBD 153 197 3.8e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000133580
AA Change: K259T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285
AA Change: K259T

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 probably damaging
Transcript: ENSMUST00000134433
AA Change: K259T

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285
AA Change: K259T

DomainStartEndE-ValueType
coiled coil region 40 197 N/A INTRINSIC
Pfam:TBD 224 273 1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135251
AA Change: K112T

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000116971
Gene: ENSMUSG00000039285
AA Change: K112T

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
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
4930578I06Rik A T 14: 64,208,881 (GRCm39) H230Q probably benign Het
Aagab T A 9: 63,546,316 (GRCm39) probably benign Het
Actl11 G T 9: 107,806,749 (GRCm39) K357N probably damaging Het
Aktip A G 8: 91,852,651 (GRCm39) probably null Het
Amtn A G 5: 88,529,501 (GRCm39) probably benign Het
Arhgap21 T A 2: 20,919,532 (GRCm39) M58L probably benign Het
Art2b T A 7: 101,229,785 (GRCm39) Y38F probably damaging Het
Asb10 T C 5: 24,744,601 (GRCm39) probably benign Het
Atm A T 9: 53,395,471 (GRCm39) D1699E possibly damaging Het
Bcas3 A G 11: 85,367,609 (GRCm39) D77G probably damaging Het
Birc6 G A 17: 74,903,945 (GRCm39) R1246H probably damaging Het
Cdh13 C A 8: 120,015,463 (GRCm39) D559E probably damaging Het
Chrm3 C T 13: 9,927,570 (GRCm39) A489T probably damaging Het
Ckap2l A T 2: 129,126,967 (GRCm39) Y404N probably benign Het
Col18a1 A G 10: 76,895,015 (GRCm39) probably benign Het
Col4a1 T A 8: 11,272,198 (GRCm39) K731* probably null Het
Corin A T 5: 72,511,273 (GRCm39) C360S probably damaging Het
Cyp1a1 A C 9: 57,608,995 (GRCm39) H292P possibly damaging Het
Dennd5b A G 6: 148,928,893 (GRCm39) V760A probably damaging Het
Dhx57 T C 17: 80,565,526 (GRCm39) D842G possibly damaging Het
Emp2 C A 16: 10,105,910 (GRCm39) probably benign Het
Eral1 G A 11: 77,969,093 (GRCm39) R136C probably damaging Het
Fat2 T A 11: 55,174,072 (GRCm39) M2214L probably benign Het
Flnb G A 14: 7,882,211 (GRCm38) R304H probably benign Het
G6pd2 A T 5: 61,967,645 (GRCm39) E473D probably benign Het
Gpx8 A G 13: 113,179,795 (GRCm39) Y169H probably damaging Het
Ighv1-64 A G 12: 115,471,461 (GRCm39) S19P possibly damaging Het
Ikbkb G T 8: 23,172,802 (GRCm39) N139K probably benign Het
Inpp5b A T 4: 124,686,115 (GRCm39) T720S probably benign Het
Kmt2d C A 15: 98,737,821 (GRCm39) probably benign Het
Lrig2 G A 3: 104,374,575 (GRCm39) P169S probably damaging Het
Magi3 T A 3: 103,922,655 (GRCm39) K1354I possibly damaging Het
Mapk9 A T 11: 49,757,865 (GRCm39) D103V probably damaging Het
Mrpl46 A T 7: 78,431,333 (GRCm39) I75N probably damaging Het
Or3a1c T A 11: 74,046,511 (GRCm39) I177N probably damaging Het
Or8b41 A G 9: 38,054,479 (GRCm39) E16G probably damaging Het
Or8d2b G A 9: 38,788,959 (GRCm39) M162I probably benign Het
Otog G T 7: 45,955,346 (GRCm39) probably null Het
Pex11a A G 7: 79,387,523 (GRCm39) L103P probably damaging Het
Pnpla8 A G 12: 44,358,305 (GRCm39) T687A probably benign Het
Ppm1d A G 11: 85,227,989 (GRCm39) I302V probably null Het
Prdm11 C A 2: 92,805,304 (GRCm39) V549F possibly damaging Het
Prss54 G A 8: 96,292,258 (GRCm39) P107L probably benign Het
Rasa3 T A 8: 13,635,690 (GRCm39) N422I probably benign Het
Rbm27 T C 18: 42,460,589 (GRCm39) probably benign Het
Rpl13-ps3 A T 14: 59,131,156 (GRCm39) noncoding transcript Het
Rps6ka2 G A 17: 7,562,679 (GRCm39) probably null Het
Sphkap T A 1: 83,258,075 (GRCm39) I223F possibly damaging Het
Srm T C 4: 148,677,838 (GRCm39) F159L probably damaging Het
Stt3a A G 9: 36,644,266 (GRCm39) probably benign Het
Tacr3 T C 3: 134,638,027 (GRCm39) S395P possibly damaging Het
Tecpr2 A G 12: 110,921,260 (GRCm39) probably benign Het
Tmub1 C T 5: 24,651,096 (GRCm39) G188S probably damaging Het
Trim66 T A 7: 109,057,952 (GRCm39) I877F probably benign Het
Ubr5 T C 15: 38,029,812 (GRCm39) E471G probably damaging Het
Vmn1r218 A T 13: 23,321,481 (GRCm39) Y196F possibly damaging Het
Vmn2r89 T A 14: 51,689,615 (GRCm39) D39E probably damaging Het
Wee1 C A 7: 109,723,805 (GRCm39) P240Q probably damaging Het
Zc3h12a A T 4: 125,020,813 (GRCm39) V10D probably benign Het
Zzef1 T C 11: 72,746,350 (GRCm39) probably benign Het
Other mutations in Azi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2016-08-02