Mutagenetix > Incidental Mutation

Incidental Mutation 'R5839:Azi2'

449810

Institutional Source

Beutler Lab

Gene Symbol

Azi2

Ensembl Gene

ENSMUSG00000039285

Gene Name

5-azacytidine induced gene 2

Synonyms

AZ2

MMRRC Submission

044059-MU

Accession Numbers

Essential gene?

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

Stock #

R5839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117869567-117898862 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 117888187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 250 (T250I)

Ref Sequence

ENSEMBL: ENSMUSP00000114980 (fasta)

Gene Model

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

AlphaFold

Q9QYP6

Predicted Effect

probably damaging
Transcript: ENSMUST00000044454
AA Change: T250I

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285
AA Change: T250I

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

Predicted Effect

unknown
Transcript: ENSMUST00000123690
AA Change: T21I

SMART Domains

Protein: ENSMUSP00000121245
Gene: ENSMUSG00000039285
AA Change: T21I

Domain	Start	End	E-Value	Type
Pfam:TBD	1	51	4.7e-23	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000130735
AA Change: T176I

SMART Domains

Protein: ENSMUSP00000114634
Gene: ENSMUSG00000039285
AA Change: T176I

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 damaging
Transcript: ENSMUST00000133580
AA Change: T250I

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285
AA Change: T250I

Domain	Start	End	E-Value	Type
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: T250I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285
AA Change: T250I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000135251
AA Change: T103I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116971
Gene: ENSMUSG00000039285
AA Change: T103I

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

0.3901

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (62/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	A	5: 8,186,861 (GRCm39)	Y420F	probably damaging	Het
Adcy8	A	G	15: 64,588,031 (GRCm39)	Y919H	probably damaging	Het
Afg2a	A	G	3: 37,518,803 (GRCm39)	D779G	probably damaging	Het
Ampd1	A	T	3: 102,992,744 (GRCm39)	N162I	possibly damaging	Het
Arhgef15	G	A	11: 68,844,982 (GRCm39)	A205V	probably benign	Het
Ash1l	A	G	3: 88,890,658 (GRCm39)	K846E	probably damaging	Het
Btbd16	G	A	7: 130,417,538 (GRCm39)		probably null	Het
Ceacam16	T	A	7: 19,590,008 (GRCm39)	K52*	probably null	Het
Cfap74	T	C	4: 155,507,207 (GRCm39)		probably null	Het
Cgn	A	C	3: 94,681,703 (GRCm39)	L464R	probably damaging	Het
Chpt1	T	A	10: 88,339,625 (GRCm39)	H32L	probably damaging	Het
Clk1	G	A	1: 58,461,074 (GRCm39)	T7I	probably benign	Het
Col6a5	C	T	9: 105,822,592 (GRCm39)		probably null	Het
Cpne4	C	A	9: 104,803,027 (GRCm39)	R224S	probably damaging	Het
Cysltr2	T	C	14: 73,267,623 (GRCm39)	Y29C	probably damaging	Het
Ddx5	A	G	11: 106,673,032 (GRCm39)	S498P	probably damaging	Het
Dgkg	A	G	16: 22,385,244 (GRCm39)	Y382H	possibly damaging	Het
Efemp1	A	G	11: 28,871,418 (GRCm39)	E339G	possibly damaging	Het
Focad	T	A	4: 88,115,083 (GRCm39)		probably benign	Het
Gabbr1	G	A	17: 37,378,760 (GRCm39)	G650D	probably damaging	Het
Galnt9	A	G	5: 110,725,386 (GRCm39)	S108G	probably benign	Het
Igkv8-28	T	A	6: 70,121,145 (GRCm39)	M1L	probably benign	Het
Iqca1l	T	C	5: 24,757,024 (GRCm39)	K218E	probably damaging	Het
Kcnq2	T	C	2: 180,751,544 (GRCm39)	Y284C	probably damaging	Het
Macf1	A	G	4: 123,275,117 (GRCm39)	F6299S	probably damaging	Het
Magi3	G	A	3: 104,127,047 (GRCm39)	T79M	probably damaging	Het
Mdh2	T	A	5: 135,812,146 (GRCm39)		probably null	Het
Mgam	A	C	6: 40,716,998 (GRCm39)	N108T	possibly damaging	Het
N4bp3	A	T	11: 51,536,909 (GRCm39)	F55I	probably benign	Het
Nasp	C	T	4: 116,459,288 (GRCm39)		probably null	Het
Ncapg	T	A	5: 45,829,620 (GRCm39)	H107Q	probably damaging	Het
Ofcc1	T	C	13: 40,434,021 (GRCm39)	K28R	probably damaging	Het
Opn1sw	C	T	6: 29,379,829 (GRCm39)	C135Y	probably damaging	Het
Pigo	T	C	4: 43,022,104 (GRCm39)	M346V	probably damaging	Het
Pkn2	A	T	3: 142,527,290 (GRCm39)	D386E	probably benign	Het
Psd2	G	T	18: 36,140,577 (GRCm39)	V617L	probably damaging	Het
Rab39	C	T	9: 53,617,387 (GRCm39)	R10H	probably damaging	Het
Slc6a6	T	A	6: 91,700,298 (GRCm39)	C9S	probably damaging	Het
Slc8a2	A	T	7: 15,868,412 (GRCm39)	I215F	probably damaging	Het
Slitrk5	T	C	14: 111,917,030 (GRCm39)	V218A	probably benign	Het
Smchd1	A	T	17: 71,701,857 (GRCm39)	V1045E	probably damaging	Het
Smoc1	T	C	12: 81,214,359 (GRCm39)	I247T	probably damaging	Het
Snapc4	G	C	2: 26,255,546 (GRCm39)	Q993E	probably benign	Het
Spidr	A	T	16: 15,855,366 (GRCm39)	I383N	probably damaging	Het
Stab2	A	G	10: 86,708,555 (GRCm39)	V219A	probably damaging	Het
Tas2r103	T	C	6: 133,013,779 (GRCm39)	T96A	probably benign	Het
Tcaf3	T	C	6: 42,570,783 (GRCm39)	E323G	possibly damaging	Het
Tecta	T	C	9: 42,284,272 (GRCm39)	T938A	possibly damaging	Het
Tecta	C	T	9: 42,242,319 (GRCm39)	D2085N	probably benign	Het
Tekt2	T	A	4: 126,216,629 (GRCm39)	E328V	probably damaging	Het
Tgfb1i1	A	G	7: 127,852,537 (GRCm39)	*462W	probably null	Het
Tnip2	T	C	5: 34,653,976 (GRCm39)		probably benign	Het
Tpd52l2	G	A	2: 181,141,691 (GRCm39)	V25I	probably benign	Het
Traj15	T	A	14: 54,441,926 (GRCm39)		probably benign	Het
Trpm8	A	T	1: 88,253,228 (GRCm39)	I106F	possibly damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Ttn	T	C	2: 76,739,772 (GRCm39)	H3589R	probably benign	Het
Vmn1r28	T	A	6: 58,242,280 (GRCm39)	I41N	possibly damaging	Het
Wasf1	T	A	10: 40,812,315 (GRCm39)	V368E	unknown	Het
Zeb1	A	G	18: 5,767,507 (GRCm39)	M673V	probably benign	Het
Zfp799	T	C	17: 33,041,086 (GRCm39)	D31G	probably null	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
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'- TGCCTGAAATGAGAACAGTGTTATC -3'
(R):5'- CTACAGACTGAAGCCAAGGC -3'

Sequencing Primer
(F):5'- GAAATGAGAACAGTGTTATCCCTTAC -3'
(R):5'- CTGAAGCCAAGGCAGAGCATG -3'

Posted On

2016-12-20