Incidental Mutation 'R5885:Azi2'
| ID |
456047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Azi2
|
| Ensembl Gene |
ENSMUSG00000039285 |
| Gene Name |
5-azacytidine induced gene 2 |
| Synonyms |
AZ2 |
| MMRRC Submission |
043237-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R5885 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
117869567-117898862 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 117876628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 48
(I48N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044454]
[ENSMUST00000133580]
[ENSMUST00000134433]
[ENSMUST00000135251]
[ENSMUST00000154583]
|
| AlphaFold |
Q9QYP6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044454
AA Change: I48N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285
AA Change: I48N
| 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 |
probably damaging
Transcript: ENSMUST00000133580
AA Change: I48N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285
AA Change: I48N
| 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 damaging
Transcript: ENSMUST00000134433
AA Change: I48N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285
AA Change: I48N
| 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 damaging
Transcript: ENSMUST00000154583
AA Change: I48N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122063
Gene: ENSMUSG00000039285
AA Change: I48N
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
40 |
83 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot10 |
T |
A |
15: 20,666,190 (GRCm39) |
M184L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,572,390 (GRCm39) |
S4924T |
probably benign |
Het |
| Atp10a |
T |
A |
7: 58,463,548 (GRCm39) |
M1027K |
possibly damaging |
Het |
| Axl |
T |
A |
7: 25,466,277 (GRCm39) |
K510I |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,668,927 (GRCm39) |
I720V |
probably benign |
Het |
| Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
| Epas1 |
A |
G |
17: 87,134,972 (GRCm39) |
D535G |
probably damaging |
Het |
| Fam47e |
A |
G |
5: 92,713,827 (GRCm39) |
K152R |
probably damaging |
Het |
| Fbxl3 |
A |
T |
14: 103,320,667 (GRCm39) |
I260K |
probably benign |
Het |
| Fcgr3 |
A |
G |
1: 170,885,280 (GRCm39) |
V115A |
probably damaging |
Het |
| Fgf12 |
G |
T |
16: 28,217,046 (GRCm39) |
D98E |
possibly damaging |
Het |
| Flt3 |
T |
C |
5: 147,286,439 (GRCm39) |
T716A |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr141b |
A |
T |
13: 19,913,519 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
G |
16: 9,579,769 (GRCm39) |
Y165H |
possibly damaging |
Het |
| Ifna4 |
T |
A |
4: 88,760,599 (GRCm39) |
W168R |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,670,132 (GRCm39) |
Y752C |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,896,547 (GRCm39) |
|
probably null |
Het |
| Kif24 |
A |
T |
4: 41,423,463 (GRCm39) |
Y263N |
probably damaging |
Het |
| Lama5 |
G |
T |
2: 179,843,624 (GRCm39) |
T441K |
probably damaging |
Het |
| Lrrc47 |
T |
A |
4: 154,100,429 (GRCm39) |
V335D |
possibly damaging |
Het |
| Map1b |
A |
T |
13: 99,566,589 (GRCm39) |
I2044N |
unknown |
Het |
| Mast2 |
C |
T |
4: 116,172,035 (GRCm39) |
G638S |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,778,503 (GRCm39) |
S1420P |
probably benign |
Het |
| Neurl2 |
T |
C |
2: 164,674,811 (GRCm39) |
T184A |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,822,944 (GRCm39) |
I577V |
probably benign |
Het |
| Nipal3 |
A |
T |
4: 135,199,288 (GRCm39) |
V186E |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 125,111,205 (GRCm39) |
T162M |
probably damaging |
Het |
| Plod2 |
T |
A |
9: 92,488,709 (GRCm39) |
|
probably null |
Het |
| Psg22 |
T |
A |
7: 18,452,257 (GRCm39) |
L19Q |
probably damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,711 (GRCm39) |
N245Y |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,016,246 (GRCm39) |
I539F |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,488,143 (GRCm39) |
L59P |
probably damaging |
Het |
| Slc2a9 |
G |
A |
5: 38,598,017 (GRCm39) |
R137W |
probably damaging |
Het |
| Spats2l |
C |
T |
1: 57,985,321 (GRCm39) |
A458V |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,907,144 (GRCm39) |
|
probably benign |
Het |
| Stox1 |
C |
A |
10: 62,500,627 (GRCm39) |
L644F |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,806,501 (GRCm39) |
G213E |
probably damaging |
Het |
| Tas2r121 |
T |
G |
6: 132,677,254 (GRCm39) |
L239F |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,731,603 (GRCm39) |
V854E |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,168,035 (GRCm39) |
Y763C |
possibly damaging |
Het |
| Xkr6 |
T |
A |
14: 63,844,360 (GRCm39) |
W128R |
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 |
|
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'- TGCTGTGTTGCCTCTGAAAG -3'
(R):5'- ACACACGATATGACTGATGCAGC -3'
Sequencing Primer
(F):5'- GCTGTGTTGCCTCTGAAAGAAAATAG -3'
(R):5'- CGATATGACTGATGCAGCATAGTTAG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation