Mutagenetix > Incidental Mutation

Incidental Mutation 'R7391:Azi2'

596101

Institutional Source

Beutler Lab

Gene Symbol

Azi2

Ensembl Gene

ENSMUSG00000039285

Gene Name

5-azacytidine induced gene 2

Synonyms

AZ2

MMRRC Submission

045473-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R7391 (G1)

Quality Score

96.0077

Status

Validated

Chromosome

Chromosomal Location

117869567-117898862 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 117879960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116971 (fasta)

Gene Model

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

AlphaFold

Q9QYP6

Predicted Effect

probably benign
Transcript: ENSMUST00000044454

SMART Domains

Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130735

SMART Domains

Protein: ENSMUSP00000114634
Gene: ENSMUSG00000039285

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 benign
Transcript: ENSMUST00000133580

SMART Domains

Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285

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 benign
Transcript: ENSMUST00000134433

SMART Domains

Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285

Domain	Start	End	E-Value	Type
coiled coil region	40	197	N/A	INTRINSIC
Pfam:TBD	224	273	1e-22	PFAM

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000154583

SMART Domains

Protein: ENSMUSP00000122063
Gene: ENSMUSG00000039285

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (79/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	A	T	10: 18,522,007 (GRCm39)	I673K	probably benign	Het
Arhgap32	C	A	9: 32,093,235 (GRCm39)	T196K	probably benign	Het
B3gnt2	A	T	11: 22,786,482 (GRCm39)	C235*	probably null	Het
Capn5	C	T	7: 97,780,426 (GRCm39)	V315M	probably benign	Het
Ccl24	T	A	5: 135,599,676 (GRCm39)	R111S	possibly damaging	Het
Cdk9	A	G	2: 32,602,083 (GRCm39)	V45A	probably damaging	Het
Cep162	G	T	9: 87,130,547 (GRCm39)	S21*	probably null	Het
Chil3	T	A	3: 106,071,496 (GRCm39)	Y56F	probably damaging	Het
Ctr9	T	A	7: 110,642,378 (GRCm39)	L368*	probably null	Het
Ctss	A	G	3: 95,436,852 (GRCm39)	E45G	probably benign	Het
Cyp2c29	A	T	19: 39,296,211 (GRCm39)	Q214L	probably null	Het
Cyp2d34	T	A	15: 82,502,587 (GRCm39)	N183I	probably benign	Het
Dhx29	T	A	13: 113,099,393 (GRCm39)	N1139K	probably benign	Het
Elp1	C	A	4: 56,781,211 (GRCm39)	Q487H	possibly damaging	Het
Elp1	T	G	4: 56,781,212 (GRCm39)	Q487P	probably benign	Het
Ermp1	C	A	19: 29,604,468 (GRCm39)		probably null	Het
Ermp1	T	A	19: 29,604,469 (GRCm39)		probably null	Het
Evi2	A	G	11: 79,406,493 (GRCm39)	S361P	probably benign	Het
Ext2	T	A	2: 93,560,612 (GRCm39)	K518M	probably damaging	Het
Fgl1	A	C	8: 41,663,483 (GRCm39)	M15R	probably benign	Het
Fsip2	T	G	2: 82,820,663 (GRCm39)	D5465E	possibly damaging	Het
Hdlbp	A	T	1: 93,358,783 (GRCm39)	I256N	possibly damaging	Het
Hmmr	G	T	11: 40,598,613 (GRCm39)		probably null	Het
Hnrnpu	T	C	1: 178,164,643 (GRCm39)	Q165R	unknown	Het
Homer3	G	A	8: 70,742,134 (GRCm39)	A132T	probably benign	Het
Ift70a1	T	C	2: 75,810,359 (GRCm39)	K575E	probably benign	Het
Kcnb1	T	C	2: 166,947,370 (GRCm39)	R493G	probably damaging	Het
Kcnn3	A	T	3: 89,516,778 (GRCm39)	T396S	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krtap4-1	A	G	11: 99,518,810 (GRCm39)	S67P	unknown	Het
Lama4	G	T	10: 38,963,383 (GRCm39)		probably null	Het
Lrrtm2	T	A	18: 35,345,818 (GRCm39)	I495F	possibly damaging	Het
Mical2	A	T	7: 111,919,816 (GRCm39)	E442V	probably damaging	Het
Muc16	C	T	9: 18,550,832 (GRCm39)	V5154I	probably benign	Het
Nav3	A	T	10: 109,539,317 (GRCm39)	M2028K	probably benign	Het
Ncr1	T	A	7: 4,347,470 (GRCm39)	W249R	possibly damaging	Het
Neurod6	T	C	6: 55,656,616 (GRCm39)	D7G	probably damaging	Het
Nwd1	A	G	8: 73,389,046 (GRCm39)	E158G	probably damaging	Het
Or10ak7	A	T	4: 118,791,198 (GRCm39)	N282K	possibly damaging	Het
Or2h15	A	T	17: 38,441,941 (GRCm39)	F47L	probably benign	Het
Or2t26	A	G	11: 49,039,806 (GRCm39)	T241A	probably damaging	Het
Or2y11	T	C	11: 49,443,371 (GRCm39)	S266P	probably damaging	Het
Or51a39	T	C	7: 102,363,189 (GRCm39)	N144D	probably benign	Het
Padi2	A	G	4: 140,665,266 (GRCm39)	D457G	probably benign	Het
Parn	C	A	16: 13,485,870 (GRCm39)		probably null	Het
Pcdh1	C	T	18: 38,335,838 (GRCm39)	E266K	possibly damaging	Het
Pigr	A	G	1: 130,777,303 (GRCm39)	D703G	probably damaging	Het
Ppm1f	T	A	16: 16,732,098 (GRCm39)	S183T	probably benign	Het
Ppp2r5b	T	A	19: 6,278,544 (GRCm39)	Q455L	probably benign	Het
Pramel20	T	A	4: 143,298,876 (GRCm39)	L273H	probably damaging	Het
Ptpn13	C	T	5: 103,688,847 (GRCm39)	S880L	probably damaging	Het
R3hdm4	T	C	10: 79,746,943 (GRCm39)	K240R	probably benign	Het
Rin1	T	C	19: 5,100,888 (GRCm39)	M1T	probably null	Het
Rundc3b	T	A	5: 8,609,455 (GRCm39)	M170L	probably benign	Het
Ryr3	A	T	2: 112,611,322 (GRCm39)		probably null	Het
Scn11a	T	C	9: 119,624,783 (GRCm39)	D513G	probably damaging	Het
Slc27a2	C	A	2: 126,395,082 (GRCm39)	P3Q	unknown	Het
Slc4a8	A	G	15: 100,682,743 (GRCm39)	I187M	probably damaging	Het
Slc6a11	A	T	6: 114,215,422 (GRCm39)	I441F	probably benign	Het
Stx2	C	T	5: 129,065,867 (GRCm39)	R263Q	probably damaging	Het
Svep1	A	T	4: 58,145,185 (GRCm39)	W427R	probably damaging	Het
Tes	T	A	6: 17,096,166 (GRCm39)	H51Q	probably damaging	Het
Thnsl2	T	C	6: 71,108,914 (GRCm39)	D299G	probably damaging	Het
Tmem30b	T	C	12: 73,592,702 (GRCm39)	S138G	probably benign	Het
Tmprss11c	T	A	5: 86,385,650 (GRCm39)	H274L	probably damaging	Het
Trim10	G	A	17: 37,180,773 (GRCm39)	M1I	probably null	Het
Unc13b	A	G	4: 43,216,459 (GRCm39)	I253V	probably benign	Het
Unc80	A	G	1: 66,734,687 (GRCm39)	S3305G	probably benign	Het
Ush2a	TCACC	TC	1: 188,694,205 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,508,099 (GRCm39)	D267G	probably damaging	Het
Vmn1r46	C	T	6: 89,953,607 (GRCm39)	S152L	probably benign	Het
Wdr90	T	C	17: 26,065,502 (GRCm39)	N1621S	probably benign	Het
Zfhx3	G	A	8: 109,674,475 (GRCm39)	A1842T	probably damaging	Het
Zfp583	A	G	7: 6,319,498 (GRCm39)	S505P	probably damaging	Het
Zfp608	T	C	18: 55,030,619 (GRCm39)	Y1107C	possibly damaging	Het
Zfp616	A	G	11: 73,976,155 (GRCm39)	H808R	probably benign	Het
Zfp677	T	C	17: 21,618,653 (GRCm39)	F570S	possibly damaging	Het
Zfp85	A	T	13: 67,897,410 (GRCm39)	Y221N	probably 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
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
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'- TGCTAACCTCATCCATGCTAAC -3'
(R):5'- CATTTCCCTGGAAAGCGCTC -3'

Sequencing Primer
(F):5'- TGCTAACCTCATCCATGCTAAC -3'
(R):5'- ATTTCCCTGGAAAGCGCTCAAATTC -3'

Posted On

2019-11-18