Incidental Mutation 'R7693:Azi2'
| ID |
593505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Azi2
|
| Ensembl Gene |
ENSMUSG00000039285 |
| Gene Name |
5-azacytidine induced gene 2 |
| Synonyms |
AZ2 |
| MMRRC Submission |
045708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R7693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
117869567-117898862 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117876661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 59
(N59I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044454]
[ENSMUST00000133580]
[ENSMUST00000134433]
[ENSMUST00000135251]
[ENSMUST00000154583]
|
| AlphaFold |
Q9QYP6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044454
AA Change: N59I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285
AA Change: N59I
| 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 damaging
Transcript: ENSMUST00000133580
AA Change: N59I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285
AA Change: N59I
| 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: N59I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285
AA Change: N59I
| 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 |
probably damaging
Transcript: ENSMUST00000154583
AA Change: N59I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122063
Gene: ENSMUSG00000039285
AA Change: N59I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
40 |
83 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
A |
7: 45,827,968 (GRCm39) |
S63I |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,398,340 (GRCm39) |
E1479G |
probably benign |
Het |
| Alpl |
C |
T |
4: 137,471,120 (GRCm39) |
G339R |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,483,457 (GRCm39) |
S1213P |
possibly damaging |
Het |
| Aoc3 |
C |
A |
11: 101,223,338 (GRCm39) |
H525N |
probably benign |
Het |
| Arhgap33 |
A |
T |
7: 30,225,537 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,763,222 (GRCm39) |
E826G |
probably benign |
Het |
| Art2a |
A |
T |
7: 101,204,056 (GRCm39) |
*161R |
probably null |
Het |
| Cdhr5 |
T |
C |
7: 140,851,691 (GRCm39) |
T538A |
probably benign |
Het |
| Cilk1 |
A |
G |
9: 78,065,008 (GRCm39) |
D306G |
probably benign |
Het |
| Csnk2b |
C |
A |
17: 35,336,972 (GRCm39) |
G123C |
probably null |
Het |
| Dnaaf10 |
T |
C |
11: 17,162,064 (GRCm39) |
V34A |
probably benign |
Het |
| Dnaja2 |
G |
T |
8: 86,266,939 (GRCm39) |
P306Q |
probably damaging |
Het |
| Dusp19 |
A |
G |
2: 80,447,905 (GRCm39) |
T60A |
probably benign |
Het |
| Epm2aip1 |
G |
A |
9: 111,101,443 (GRCm39) |
G139S |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,862,351 (GRCm39) |
F1774S |
possibly damaging |
Het |
| Fxyd3 |
T |
A |
7: 30,770,598 (GRCm39) |
R66S |
probably benign |
Het |
| Gjd2 |
T |
C |
2: 113,842,309 (GRCm39) |
N56S |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,691,239 (GRCm39) |
I252T |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,299,112 (GRCm39) |
C517R |
probably damaging |
Het |
| Grin1 |
T |
A |
2: 25,208,679 (GRCm39) |
M74L |
possibly damaging |
Het |
| Hinfp |
A |
G |
9: 44,209,642 (GRCm39) |
M244T |
probably damaging |
Het |
| Iqca1l |
T |
C |
5: 24,751,626 (GRCm39) |
I541V |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,417,680 (GRCm39) |
I850F |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,904,089 (GRCm39) |
T1748N |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,124,026 (GRCm39) |
A2817V |
|
Het |
| Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
| Neb |
C |
T |
2: 52,189,581 (GRCm39) |
A770T |
probably damaging |
Het |
| Noc2l |
T |
A |
4: 156,324,764 (GRCm39) |
H280Q |
probably damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,695,733 (GRCm39) |
D205G |
probably benign |
Het |
| Or5m5 |
A |
T |
2: 85,814,979 (GRCm39) |
Y265F |
probably damaging |
Het |
| Or7a37 |
A |
T |
10: 78,806,137 (GRCm39) |
Y218F |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,777,282 (GRCm39) |
S409G |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,613,864 (GRCm39) |
T529I |
probably benign |
Het |
| Popdc3 |
A |
G |
10: 45,191,227 (GRCm39) |
S113G |
probably benign |
Het |
| Rbm8a |
T |
C |
3: 96,537,624 (GRCm39) |
I25T |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 22,946,163 (GRCm39) |
W40R |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,417,626 (GRCm39) |
D1162G |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,197,218 (GRCm39) |
A846V |
possibly damaging |
Het |
| Spx |
A |
G |
6: 142,360,516 (GRCm39) |
D56G |
probably damaging |
Het |
| Tanc2 |
T |
A |
11: 105,814,293 (GRCm39) |
N1912K |
probably damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,001,843 (GRCm39) |
I559V |
|
Het |
| Tnfaip3 |
A |
G |
10: 18,880,528 (GRCm39) |
V513A |
probably benign |
Het |
| Ucp3 |
T |
C |
7: 100,131,799 (GRCm39) |
F217L |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,573,475 (GRCm39) |
M55K |
probably damaging |
Het |
| Zfp316 |
G |
A |
5: 143,249,167 (GRCm39) |
T156I |
unknown |
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 |
|
|
R7391:Azi2
|
UTSW |
9 |
117,879,960 (GRCm39) |
splice site |
probably null |
|
|
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'- CCATGGACACGCTAGTAGAAG -3'
(R):5'- CCATTACATAGCAATGCCAGAAGG -3'
Sequencing Primer
(F):5'- CACGCTAGTAGAAGATGACATCTGC -3'
(R):5'- TGAACACACGATATGACTGATGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation