Incidental Mutation 'R8142:Azi2'
| ID |
632591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Azi2
|
| Ensembl Gene |
ENSMUSG00000039285 |
| Gene Name |
5-azacytidine induced gene 2 |
| Synonyms |
AZ2 |
| MMRRC Submission |
067570-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R8142 (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 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: 99.7%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 91.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v1e2 |
A |
T |
17: 87,252,083 (GRCm39) |
I105N |
possibly damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,909,465 (GRCm39) |
S980P |
probably damaging |
Het |
| Ccno |
T |
G |
13: 113,125,489 (GRCm39) |
L151R |
probably damaging |
Het |
| Cdh2 |
A |
C |
18: 16,734,791 (GRCm39) |
I801S |
probably benign |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Dab1 |
T |
A |
4: 104,535,921 (GRCm39) |
V110D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,660,189 (GRCm39) |
T828A |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,384,519 (GRCm39) |
V3088L |
probably benign |
Het |
| Dtd2 |
T |
A |
12: 52,046,593 (GRCm39) |
D82V |
probably damaging |
Het |
| Dusp5 |
T |
C |
19: 53,525,912 (GRCm39) |
F185L |
probably damaging |
Het |
| Epha10 |
A |
G |
4: 124,779,639 (GRCm39) |
T162A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,945,352 (GRCm39) |
D1415V |
probably damaging |
Het |
| Fitm1 |
T |
C |
14: 55,813,247 (GRCm39) |
Y37H |
possibly damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,782 (GRCm39) |
E1651* |
probably null |
Het |
| Ifit3 |
G |
T |
19: 34,564,901 (GRCm39) |
C149F |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,622,616 (GRCm39) |
H465Q |
possibly damaging |
Het |
| Ltn1 |
A |
C |
16: 87,178,529 (GRCm39) |
S1567A |
probably benign |
Het |
| Marchf1 |
T |
C |
8: 66,908,778 (GRCm39) |
V166A |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,737,448 (GRCm39) |
H424R |
possibly damaging |
Het |
| Mypop |
A |
G |
7: 18,735,051 (GRCm39) |
T383A |
unknown |
Het |
| Ngef |
G |
C |
1: 87,468,463 (GRCm39) |
R99G |
probably benign |
Het |
| Nherf4 |
A |
G |
9: 44,162,078 (GRCm39) |
|
probably null |
Het |
| Npepps |
G |
T |
11: 97,109,398 (GRCm39) |
A726D |
probably damaging |
Het |
| Or6c63-ps1 |
T |
A |
10: 128,900,519 (GRCm39) |
D9V |
probably benign |
Het |
| Pcdhgb4 |
A |
G |
18: 37,854,166 (GRCm39) |
D187G |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,349,269 (GRCm39) |
E1034G |
possibly damaging |
Het |
| Pira1 |
A |
G |
7: 3,739,842 (GRCm39) |
S418P |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,378,327 (GRCm39) |
R1027H |
probably benign |
Het |
| Pon2 |
A |
T |
6: 5,266,239 (GRCm39) |
V260D |
probably benign |
Het |
| Rnase13 |
A |
G |
14: 52,159,893 (GRCm39) |
I82T |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,546,608 (GRCm39) |
S194P |
probably benign |
Het |
| Serpinb6c |
T |
A |
13: 34,064,096 (GRCm39) |
I320L |
probably benign |
Het |
| Sh3rf3 |
C |
T |
10: 58,885,205 (GRCm39) |
R363* |
probably null |
Het |
| Slc11a1 |
T |
C |
1: 74,424,418 (GRCm39) |
F500L |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,257,890 (GRCm39) |
|
probably null |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,219,958 (GRCm39) |
N362S |
possibly damaging |
Het |
| Stau2 |
A |
G |
1: 16,530,575 (GRCm39) |
S115P |
unknown |
Het |
| Stk38l |
A |
G |
6: 146,660,070 (GRCm39) |
N34S |
probably benign |
Het |
| Tmem201 |
T |
C |
4: 149,803,114 (GRCm39) |
T585A |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,744,258 (GRCm39) |
I1297F |
possibly damaging |
Het |
| Uncx |
A |
G |
5: 139,532,655 (GRCm39) |
D240G |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,564 (GRCm39) |
I293V |
|
Het |
| Vps11 |
T |
C |
9: 44,265,852 (GRCm39) |
T476A |
probably benign |
Het |
| Vrtn |
T |
C |
12: 84,697,395 (GRCm39) |
L715P |
probably damaging |
Het |
| Wdr72 |
T |
G |
9: 74,046,949 (GRCm39) |
V65G |
probably damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,752,675 (GRCm39) |
E536G |
probably damaging |
Het |
| Zbtb34 |
G |
T |
2: 33,302,493 (GRCm39) |
S16* |
probably null |
Het |
| Zfhx2 |
G |
A |
14: 55,310,895 (GRCm39) |
L600F |
possibly 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 |
|
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 |
|
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'- GCCTTCTGAAGATAGACTTACTTGG -3'
(R):5'- AGATGGCTTTAAGTCCTTAACATGC -3'
Sequencing Primer
(F):5'- AGACTTACTTGGTCTACACAGTACC -3'
(R):5'- GGCTTTAAGTCCTTAACATGCTAAAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation