Mutagenetix > Incidental Mutation

Incidental Mutation 'R2024:Azi2'

220306

Institutional Source

Beutler Lab

Gene Symbol

Azi2

Ensembl Gene

ENSMUSG00000039285

Gene Name

5-azacytidine induced gene 2

Synonyms

AZ2

MMRRC Submission

040033-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R2024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117869567-117898862 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 117878390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 77 (R77*)

Ref Sequence

ENSEMBL: ENSMUSP00000122063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044454] [ENSMUST00000133580] [ENSMUST00000134433] [ENSMUST00000135251] [ENSMUST00000154583]

AlphaFold

Q9QYP6

Predicted Effect

probably null
Transcript: ENSMUST00000044454
AA Change: R77*

SMART Domains

Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285
AA Change: R77*

Domain	Start	End	E-Value	Type
coiled coil region	40	197	N/A	INTRINSIC
Pfam:TBD	224	278	4.2e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127189

Predicted Effect

probably null
Transcript: ENSMUST00000130735
AA Change: R3*

SMART Domains

Protein: ENSMUSP00000114634
Gene: ENSMUSG00000039285
AA Change: R3*

Domain	Start	End	E-Value	Type
coiled coil region	22	123	N/A	INTRINSIC
Pfam:TBD	153	197	3.8e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000133580
AA Change: R77*

SMART Domains

Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285
AA Change: R77*

Domain	Start	End	E-Value	Type
coiled coil region	40	197	N/A	INTRINSIC
Pfam:TBD	226	278	1.1e-27	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000134433
AA Change: R77*

SMART Domains

Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285
AA Change: R77*

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
coiled coil region	20	50	N/A	INTRINSIC
Pfam:TBD	77	131	1.1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143024

Predicted Effect

probably null
Transcript: ENSMUST00000154583
AA Change: R77*

SMART Domains

Protein: ENSMUSP00000122063
Gene: ENSMUSG00000039285
AA Change: R77*

Domain	Start	End	E-Value	Type
coiled coil region	40	83	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 90.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	A	G	15: 96,259,680 (GRCm39)	D280G	probably damaging	Het
Atosa	A	G	9: 74,917,672 (GRCm39)	D757G	probably damaging	Het
Chd8	T	C	14: 52,468,950 (GRCm39)	D556G	probably benign	Het
Cit	T	C	5: 116,085,983 (GRCm39)	M849T	probably damaging	Het
Cit	T	C	5: 116,143,899 (GRCm39)	S1923P	probably damaging	Het
Col17a1	T	A	19: 47,639,185 (GRCm39)	H1120L	probably benign	Het
Col6a5	G	T	9: 105,814,193 (GRCm39)	H606Q	unknown	Het
Dnajc2	A	C	5: 21,981,788 (GRCm39)	H45Q	probably damaging	Het
Dpp6	A	G	5: 27,914,457 (GRCm39)	D514G	possibly damaging	Het
Dync2h1	A	G	9: 7,129,062 (GRCm39)	S1818P	probably damaging	Het
Efemp1	A	T	11: 28,864,696 (GRCm39)	Y250F	possibly damaging	Het
Emc1	G	A	4: 139,088,257 (GRCm39)	E342K	possibly damaging	Het
Fam3c	T	C	6: 22,329,592 (GRCm39)	D45G	probably benign	Het
Fchsd2	A	C	7: 100,847,740 (GRCm39)	D210A	possibly damaging	Het
Flg	T	A	3: 93,186,722 (GRCm39)	M58K	probably damaging	Het
Gabra5	G	A	7: 57,138,698 (GRCm39)	R117C	probably damaging	Het
Gm6741	G	A	17: 91,544,309 (GRCm39)	S24N	probably benign	Het
Grin2a	T	C	16: 9,462,107 (GRCm39)	D675G	possibly damaging	Het
Hectd4	T	G	5: 121,419,981 (GRCm39)	V642G	possibly damaging	Het
Herc6	C	T	6: 57,560,317 (GRCm39)	T119M	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmgcs2	T	C	3: 98,206,530 (GRCm39)	S371P	probably damaging	Het
Idua	C	T	5: 108,828,600 (GRCm39)	A271V	probably damaging	Het
Inpp5d	T	A	1: 87,623,072 (GRCm39)	C125*	probably null	Het
Krt14	C	T	11: 100,098,044 (GRCm39)	G80R	unknown	Het
Lama5	T	C	2: 179,820,923 (GRCm39)	Y3176C	probably benign	Het
Lce1k	C	T	3: 92,713,809 (GRCm39)	C125Y	unknown	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Meioc	C	T	11: 102,566,184 (GRCm39)	A600V	probably benign	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Mms22l	A	G	4: 24,588,365 (GRCm39)	Y999C	probably damaging	Het
Ncbp3	T	A	11: 72,944,346 (GRCm39)	M116K	possibly damaging	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nkx3-1	T	C	14: 69,428,266 (GRCm39)	I38T	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or4k49	T	A	2: 111,495,168 (GRCm39)	M199K	possibly damaging	Het
Padi6	T	G	4: 140,456,279 (GRCm39)	I572L	possibly damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pkd1l2	A	G	8: 117,746,272 (GRCm39)	V1906A	probably benign	Het
Pom121	T	C	5: 135,410,404 (GRCm39)		probably benign	Het
Psmd9	T	C	5: 123,379,925 (GRCm39)	F115L	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rai1	T	C	11: 60,076,415 (GRCm39)	F160L	probably damaging	Het
Rhbdl2	A	T	4: 123,720,665 (GRCm39)	R234S	probably damaging	Het
Rnase2a	T	A	14: 51,493,245 (GRCm39)	Y40F	probably damaging	Het
Setd2	T	C	9: 110,378,201 (GRCm39)	V672A	possibly damaging	Het
Sgpp2	A	G	1: 78,393,857 (GRCm39)	I287V	probably benign	Het
Sh3pxd2a	T	C	19: 47,255,703 (GRCm39)	E1033G	probably benign	Het
Slc5a9	G	A	4: 111,747,728 (GRCm39)	T284I	probably damaging	Het
Slfn9	A	G	11: 82,872,507 (GRCm39)	L743P	probably damaging	Het
Smchd1	T	A	17: 71,677,923 (GRCm39)	N1473I	probably benign	Het
Stx1b	A	T	7: 127,414,575 (GRCm39)	D16E	probably benign	Het
Tectb	T	C	19: 55,170,361 (GRCm39)	F71L	probably damaging	Het
Tmem220	T	C	11: 66,924,979 (GRCm39)	I138T	possibly damaging	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Tnc	A	G	4: 63,882,858 (GRCm39)	V1921A	probably damaging	Het
Ubn1	T	G	16: 4,882,487 (GRCm39)	L316W	probably damaging	Het
Vwa5a	T	C	9: 38,647,357 (GRCm39)	S579P	probably damaging	Het
Xdh	A	G	17: 74,228,300 (GRCm39)	L367P	possibly damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp990	A	C	4: 145,263,974 (GRCm39)	Y324S	possibly damaging	Het

Other mutations in Azi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AGCAACAGAGAAAGTATTTGCCC -3'
(R):5'- AGATGGCTTTAAGTCCTTAACATGC -3'

Sequencing Primer
(F):5'- ACAGAGAAAGTATTTGCCCTTTTTC -3'
(R):5'- GGCTTTAAGTCCTTAACATGCTAAAG -3'

Posted On

2014-08-25