Mutagenetix > Incidental Mutation

Incidental Mutation 'R3713:Azi2'

259752

Institutional Source

Beutler Lab

Gene Symbol

Azi2

Ensembl Gene

ENSMUSG00000039285

Gene Name

5-azacytidine induced gene 2

Synonyms

AZ2

MMRRC Submission

040706-MU

Accession Numbers

Essential gene?

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

Stock #

R3713 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117869567-117898862 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117876508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 8 (D8G)

Ref Sequence

ENSEMBL: ENSMUSP00000122063 (fasta)

Gene Model

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

AlphaFold

Q9QYP6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044454
AA Change: D8G

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285
AA Change: D8G

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 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

possibly damaging
Transcript: ENSMUST00000133580
AA Change: D8G

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285
AA Change: D8G

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
AA Change: D8G

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285
AA Change: D8G

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

possibly damaging
Transcript: ENSMUST00000154583
AA Change: D8G

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122063
Gene: ENSMUSG00000039285
AA Change: D8G

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

Meta Mutation Damage Score

0.5862

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	C	16: 88,424,081 (GRCm39)	M137V	probably benign	Het
Aak1	T	A	6: 86,932,172 (GRCm39)	I381N	probably benign	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adgrf2	A	G	17: 43,023,979 (GRCm39)	V164A	probably damaging	Het
Ahdc1	G	A	4: 132,793,297 (GRCm39)	A1513T	possibly damaging	Het
Akap13	T	C	7: 75,235,929 (GRCm39)	M168T	probably damaging	Het
Aox1	C	T	1: 58,095,374 (GRCm39)	T196I	probably benign	Het
Aqr	A	G	2: 113,949,150 (GRCm39)		probably benign	Het
Astn1	A	G	1: 158,495,102 (GRCm39)	E1042G	possibly damaging	Het
Bcam	T	C	7: 19,498,118 (GRCm39)	T302A	probably benign	Het
Cct6b	A	T	11: 82,651,183 (GRCm39)	I110N	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Ceacam5	G	A	7: 17,493,263 (GRCm39)	S762N	possibly damaging	Het
Cecr2	T	C	6: 120,735,221 (GRCm39)	L819P	probably damaging	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Chd2	A	G	7: 73,121,538 (GRCm39)		probably benign	Het
Col7a1	G	T	9: 108,793,508 (GRCm39)	G1357*	probably null	Het
Cux1	A	G	5: 136,594,397 (GRCm39)		probably benign	Het
Cwh43	A	T	5: 73,595,835 (GRCm39)	I535F	probably damaging	Het
Dexi	A	T	16: 10,360,553 (GRCm39)	M1K	probably null	Het
Dnah12	T	C	14: 26,534,747 (GRCm39)	V2081A	probably benign	Het
Efcab5	A	T	11: 77,007,008 (GRCm39)	L872Q	probably damaging	Het
Enpp7	A	G	11: 118,881,344 (GRCm39)	Y163C	probably damaging	Het
Fam221a	T	C	6: 49,349,548 (GRCm39)	Y38H	probably damaging	Het
Foxred1	A	G	9: 35,122,186 (GRCm39)	M1T	probably null	Het
Fscn3	C	T	6: 28,428,091 (GRCm39)	T26I	possibly damaging	Het
Galp	A	T	7: 6,216,836 (GRCm39)	D72V	probably damaging	Het
Gm9843	A	G	16: 76,200,419 (GRCm39)		noncoding transcript	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Lmbrd1	T	C	1: 24,732,076 (GRCm39)	Y98H	probably damaging	Het
Lrrc63	T	G	14: 75,344,776 (GRCm39)	Y437S	probably benign	Het
Macc1	A	G	12: 119,410,576 (GRCm39)	E448G	probably benign	Het
Madcam1	A	G	10: 79,504,194 (GRCm39)	H404R	probably benign	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,973,131 (GRCm39)	I1045V	probably benign	Het
Mroh3	T	C	1: 136,113,714 (GRCm39)	T692A	probably benign	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Naip2	A	G	13: 100,298,410 (GRCm39)	F542S	probably damaging	Het
Napsa	A	G	7: 44,230,852 (GRCm39)	Y73C	probably damaging	Het
Ndst4	A	T	3: 125,355,154 (GRCm39)	H354L	possibly damaging	Het
Neil1	A	T	9: 57,054,254 (GRCm39)	V22E	probably damaging	Het
Nol4	T	C	18: 23,172,994 (GRCm39)	I36V	probably damaging	Het
Nprl3	G	A	11: 32,205,464 (GRCm39)	T111I	probably damaging	Het
Or12k8	A	G	2: 36,975,517 (GRCm39)	M81T	possibly damaging	Het
Or1e26	A	T	11: 73,479,731 (GRCm39)	Y278N	probably damaging	Het
Or4p22	C	A	2: 88,317,787 (GRCm39)	T237N	probably damaging	Het
Pald1	G	A	10: 61,178,144 (GRCm39)	T624I	possibly damaging	Het
Pcdhb13	C	T	18: 37,576,786 (GRCm39)	P388L	probably damaging	Het
Pcdhga6	T	C	18: 37,840,976 (GRCm39)	V232A	probably damaging	Het
Pde6b	A	G	5: 108,570,928 (GRCm39)	I388V	probably damaging	Het
Phactr2	C	A	10: 13,264,476 (GRCm39)		probably benign	Het
Prdx5	T	C	19: 6,885,477 (GRCm39)	D56G	probably damaging	Het
Ptprh	A	T	7: 4,574,969 (GRCm39)	I350N	probably damaging	Het
Rangap1	C	A	15: 81,594,661 (GRCm39)	E389D	probably benign	Het
Reln	A	G	5: 22,109,732 (GRCm39)	V3126A	probably damaging	Het
Rpl21	G	A	5: 146,771,847 (GRCm39)	G59S	possibly damaging	Het
Rsph6a	G	A	7: 18,791,475 (GRCm39)	V215M	probably damaging	Het
Smcp	T	C	3: 92,491,431 (GRCm39)	K139E	unknown	Het
Stag1	A	G	9: 100,771,671 (GRCm39)	T699A	probably benign	Het
Tars3	G	A	7: 65,338,700 (GRCm39)		probably null	Het
Tle1	G	T	4: 72,044,659 (GRCm39)	H459Q	possibly damaging	Het
Ttn	G	A	2: 76,561,363 (GRCm39)	P27302S	probably damaging	Het
Ttn	C	T	2: 76,571,610 (GRCm39)	V26428I	probably damaging	Het
Usp53	T	C	3: 122,742,968 (GRCm39)	E656G	probably benign	Het
Vmn1r218	A	T	13: 23,321,081 (GRCm39)	N63Y	probably damaging	Het
Vmn1r79	A	G	7: 11,910,139 (GRCm39)	N40S	possibly damaging	Het
Wdr35	A	G	12: 9,077,648 (GRCm39)	D1107G	possibly damaging	Het
Zfp101	A	G	17: 33,600,880 (GRCm39)	M292T	probably benign	Het
Zfp108	T	A	7: 23,961,270 (GRCm39)	C620*	probably null	Het
Zscan4b	T	C	7: 10,635,818 (GRCm39)	T170A	probably benign	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
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'- TAGCTTTCCCACTAAGTCACACAG -3'
(R):5'- GGACCCACCCTTTCTTCCAAAG -3'

Sequencing Primer
(F):5'- GTCACACAGAACCTGAAGCTGG -3'
(R):5'- GCCCTGATTCTTTTCTTTAAGAAGG -3'

Posted On

2015-01-23