Incidental Mutation 'R0166:Azi2'
ID |
50130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Azi2
|
Ensembl Gene |
ENSMUSG00000039285 |
Gene Name |
5-azacytidine induced gene 2 |
Synonyms |
AZ2 |
MMRRC Submission |
038442-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R0166 (G1)
|
Quality Score |
48 |
Status
|
Validated
(trace)
|
Chromosome |
9 |
Chromosomal Location |
117869567-117898862 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 117884909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 132
(Q132L)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044454]
[ENSMUST00000133580]
[ENSMUST00000134433]
[ENSMUST00000135251]
[ENSMUST00000154583]
|
AlphaFold |
Q9QYP6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044454
AA Change: Q206L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000044350 Gene: ENSMUSG00000039285 AA Change: Q206L
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: ENSMUST00000123690
|
SMART Domains |
Protein: ENSMUSP00000121245 Gene: ENSMUSG00000039285
Domain | Start | End | E-Value | Type |
Pfam:TBD
|
1 |
51 |
4.7e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127189
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130735
AA Change: Q132L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000114634 Gene: ENSMUSG00000039285 AA Change: Q132L
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 benign
Transcript: ENSMUST00000133580
AA Change: Q206L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118765 Gene: ENSMUSG00000039285 AA Change: Q206L
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
197 |
N/A |
INTRINSIC |
Pfam:TBD
|
226 |
278 |
1.1e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133814
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134433
AA Change: Q206L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000114980 Gene: ENSMUSG00000039285 AA Change: Q206L
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
197 |
N/A |
INTRINSIC |
Pfam:TBD
|
224 |
273 |
1e-22 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135251
AA Change: Q59L
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000116971 Gene: ENSMUSG00000039285 AA Change: Q59L
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 benign
Transcript: ENSMUST00000154583
|
SMART Domains |
Protein: ENSMUSP00000122063 Gene: ENSMUSG00000039285
Domain | Start | End | E-Value | Type |
coiled coil region
|
40 |
83 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 91.4%
|
Validation Efficiency |
91% (49/54) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,903,468 (GRCm39) |
F1040L |
probably damaging |
Het |
Adamts7 |
A |
G |
9: 90,075,745 (GRCm39) |
N1201S |
probably benign |
Het |
Ahnak |
C |
T |
19: 8,983,089 (GRCm39) |
P1458S |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,187,707 (GRCm39) |
V1707A |
probably benign |
Het |
Akr1c21 |
T |
A |
13: 4,631,263 (GRCm39) |
V266E |
probably damaging |
Het |
Arap2 |
A |
C |
5: 62,833,361 (GRCm39) |
C894G |
probably damaging |
Het |
Atp2a2 |
T |
C |
5: 122,604,901 (GRCm39) |
D426G |
possibly damaging |
Het |
Carmil1 |
C |
T |
13: 24,283,032 (GRCm39) |
D91N |
probably damaging |
Het |
Cnot7 |
A |
T |
8: 40,960,494 (GRCm39) |
|
probably null |
Het |
Cntnap5b |
A |
G |
1: 100,202,086 (GRCm39) |
E311G |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,283,036 (GRCm39) |
V640A |
probably benign |
Het |
Cst7 |
T |
C |
2: 150,417,647 (GRCm39) |
S31P |
probably benign |
Het |
Cyp7b1 |
T |
A |
3: 18,151,530 (GRCm39) |
I228L |
probably benign |
Het |
Ddx28 |
G |
A |
8: 106,736,921 (GRCm39) |
T379I |
probably benign |
Het |
Drd1 |
T |
A |
13: 54,207,600 (GRCm39) |
I205F |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,896,115 (GRCm38) |
V837D |
probably damaging |
Het |
Fsd1l |
A |
G |
4: 53,647,664 (GRCm39) |
|
probably null |
Het |
Fubp1 |
T |
A |
3: 151,925,841 (GRCm39) |
Y264* |
probably null |
Het |
Gbp5 |
T |
A |
3: 142,212,680 (GRCm39) |
|
probably null |
Het |
Gm7094 |
A |
G |
1: 21,342,958 (GRCm39) |
|
noncoding transcript |
Het |
Gpr55 |
A |
G |
1: 85,868,858 (GRCm39) |
V241A |
probably benign |
Het |
Impa1 |
C |
T |
3: 10,394,020 (GRCm39) |
A16T |
probably damaging |
Het |
Llgl2 |
T |
C |
11: 115,735,680 (GRCm39) |
L92P |
probably damaging |
Het |
Ltbp2 |
T |
A |
12: 84,833,132 (GRCm39) |
Q1472L |
probably benign |
Het |
Lyplal1 |
A |
T |
1: 185,820,943 (GRCm39) |
M168K |
probably benign |
Het |
Macc1 |
A |
T |
12: 119,410,815 (GRCm39) |
R528* |
probably null |
Het |
Mdm1 |
T |
A |
10: 118,002,585 (GRCm39) |
D635E |
probably damaging |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mrpl23 |
C |
T |
7: 142,088,851 (GRCm39) |
R69W |
probably damaging |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nr0b2 |
A |
G |
4: 133,281,049 (GRCm39) |
Q105R |
probably damaging |
Het |
Or8b53 |
T |
A |
9: 38,667,484 (GRCm39) |
S167T |
probably benign |
Het |
Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
Pcdhb14 |
A |
T |
18: 37,581,542 (GRCm39) |
|
probably null |
Het |
Plxna1 |
A |
G |
6: 89,310,001 (GRCm39) |
W1055R |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,381,081 (GRCm39) |
H314L |
probably benign |
Het |
Prdm1 |
C |
T |
10: 44,316,087 (GRCm39) |
R716Q |
probably damaging |
Het |
Proser1 |
C |
A |
3: 53,388,038 (GRCm39) |
Q909K |
possibly damaging |
Het |
Pus10 |
T |
A |
11: 23,617,358 (GRCm39) |
C24S |
probably damaging |
Het |
Rpl27 |
T |
A |
11: 101,336,146 (GRCm39) |
F69I |
possibly damaging |
Het |
Sctr |
A |
T |
1: 119,983,124 (GRCm39) |
I325F |
probably damaging |
Het |
Slc49a4 |
G |
A |
16: 35,539,684 (GRCm39) |
T379I |
possibly damaging |
Het |
Slc5a3 |
G |
A |
16: 91,874,581 (GRCm39) |
V213I |
possibly damaging |
Het |
Spib |
G |
T |
7: 44,179,324 (GRCm39) |
D28E |
probably damaging |
Het |
Spic |
T |
C |
10: 88,511,579 (GRCm39) |
S226G |
possibly damaging |
Het |
Tet1 |
T |
A |
10: 62,676,058 (GRCm39) |
T673S |
probably benign |
Het |
Tph1 |
A |
G |
7: 46,297,020 (GRCm39) |
F392L |
probably damaging |
Het |
Ttc28 |
T |
C |
5: 111,373,500 (GRCm39) |
S979P |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,122,812 (GRCm39) |
L2110P |
probably damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Zfp467 |
T |
C |
6: 48,415,615 (GRCm39) |
T346A |
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 |
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 |
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'- TAAGCCGCCAGTGTCCATCTACAG -3'
(R):5'- AGGTCACAGTTGCATACAGAATGCTC -3'
Sequencing Primer
(F):5'- GTGCAGAAATTCCCATTTTCCCATAG -3'
(R):5'- TGCATACAGAATGCTCCCTCC -3'
|
Posted On |
2013-06-14 |