Incidental Mutation 'R3498:Azi2'
| ID |
273666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Azi2
|
| Ensembl Gene |
ENSMUSG00000039285 |
| Gene Name |
5-azacytidine induced gene 2 |
| Synonyms |
AZ2 |
| MMRRC Submission |
040661-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R3498 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
117869567-117898862 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117878475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 105
(D105G)
|
| 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: D105G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285
AA Change: D105G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000114634
Gene: ENSMUSG00000039285
AA Change: D31G
| 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: D105G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285
AA Change: D105G
| 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: D105G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285
AA Change: D105G
| 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: D105G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122063
Gene: ENSMUSG00000039285
AA Change: D105G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
40 |
83 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.5414 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (43/43) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,649,350 (GRCm39) |
F6L |
probably benign |
Het |
| Aurkc |
A |
G |
7: 7,003,029 (GRCm39) |
I175V |
probably damaging |
Het |
| Bcat1 |
A |
G |
6: 144,965,068 (GRCm39) |
V45A |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Ddx42 |
A |
G |
11: 106,122,019 (GRCm39) |
E178G |
possibly damaging |
Het |
| Dmpk |
T |
C |
7: 18,820,306 (GRCm39) |
I101T |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Fosb |
C |
T |
7: 19,040,557 (GRCm39) |
R161H |
probably damaging |
Het |
| Gm6729 |
T |
C |
10: 86,376,582 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
T |
A |
4: 155,639,483 (GRCm39) |
N237K |
possibly damaging |
Het |
| Gpr35 |
A |
G |
1: 92,911,113 (GRCm39) |
Y275C |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,480,853 (GRCm39) |
I4441N |
probably damaging |
Het |
| Ighe |
G |
A |
12: 113,234,994 (GRCm39) |
Q389* |
probably null |
Het |
| Kcnj11 |
T |
C |
7: 45,749,026 (GRCm39) |
D23G |
probably damaging |
Het |
| Lats2 |
G |
T |
14: 57,959,923 (GRCm39) |
A191E |
possibly damaging |
Het |
| Lyplal1 |
A |
G |
1: 185,820,857 (GRCm39) |
S197P |
possibly damaging |
Het |
| Map4 |
G |
T |
9: 109,864,280 (GRCm39) |
V502L |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,312,571 (GRCm39) |
M237V |
possibly damaging |
Het |
| Mindy4 |
A |
G |
6: 55,193,510 (GRCm39) |
R68G |
probably benign |
Het |
| Nell1 |
T |
A |
7: 49,907,927 (GRCm39) |
V362E |
possibly damaging |
Het |
| Or5m8 |
T |
A |
2: 85,822,774 (GRCm39) |
F204L |
probably benign |
Het |
| Or6c66b |
T |
A |
10: 129,376,778 (GRCm39) |
I124N |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,010,079 (GRCm39) |
Y279H |
probably benign |
Het |
| Pcid2 |
A |
G |
8: 13,150,413 (GRCm39) |
V13A |
possibly damaging |
Het |
| Polr2j |
T |
C |
5: 136,151,624 (GRCm39) |
I116T |
probably benign |
Het |
| Prdm9 |
A |
G |
17: 15,783,207 (GRCm39) |
|
probably benign |
Het |
| Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
| Ptprf |
A |
T |
4: 118,082,127 (GRCm39) |
I1037N |
probably damaging |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Sde2 |
T |
A |
1: 180,685,750 (GRCm39) |
C101S |
probably damaging |
Het |
| Sec1 |
T |
C |
7: 45,328,663 (GRCm39) |
H128R |
probably damaging |
Het |
| Serpinb6a |
A |
T |
13: 34,102,764 (GRCm39) |
M253K |
probably damaging |
Het |
| Slc1a4 |
A |
T |
11: 20,263,973 (GRCm39) |
I248N |
probably damaging |
Het |
| Slc22a4 |
T |
G |
11: 53,882,879 (GRCm39) |
K328N |
probably benign |
Het |
| Slc24a4 |
A |
T |
12: 102,200,951 (GRCm39) |
K278N |
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,930,266 (GRCm39) |
W222R |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,567 (GRCm39) |
E466G |
probably benign |
Het |
| Sspo |
A |
G |
6: 48,444,914 (GRCm39) |
T2133A |
possibly damaging |
Het |
| Taco1 |
A |
G |
11: 105,963,364 (GRCm39) |
M172V |
probably benign |
Het |
| Tmem127 |
T |
A |
2: 127,098,040 (GRCm39) |
H36Q |
probably benign |
Het |
| Tmem229b-ps |
C |
T |
10: 53,351,223 (GRCm39) |
|
noncoding transcript |
Het |
| Vac14 |
A |
G |
8: 111,397,722 (GRCm39) |
D479G |
probably benign |
Het |
| Vmn1r176 |
T |
A |
7: 23,534,667 (GRCm39) |
K162I |
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 |
|
|
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 |
|
|
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'- CGAGCCTTCTGAAGATAGACTTAC -3'
(R):5'- GATGGCTTTAAGTCCTTAACATGC -3'
Sequencing Primer
(F):5'- AGACTTACTTGGTCTACACAGTACC -3'
(R):5'- GGCTTTAAGTCCTTAACATGCTAAAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation