Incidental Mutation 'R6408:Azi2'
| ID |
514543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Azi2
|
| Ensembl Gene |
ENSMUSG00000039285 |
| Gene Name |
5-azacytidine induced gene 2 |
| Synonyms |
AZ2 |
| MMRRC Submission |
044553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R6408 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
117869567-117898862 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 117890550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 51
(R51*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044220]
[ENSMUST00000044454]
[ENSMUST00000133580]
[ENSMUST00000134433]
[ENSMUST00000215799]
[ENSMUST00000154583]
[ENSMUST00000135251]
|
| AlphaFold |
Q9QYP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044220
|
| SMART Domains |
Protein: ENSMUSP00000047904
Gene: ENSMUSG00000039163
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cmc1
|
19 |
87 |
5.6e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044454
|
| SMART Domains |
Protein: ENSMUSP00000044350
Gene: ENSMUSG00000039285
| 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 null
Transcript: ENSMUST00000123690
AA Change: R51*
|
| SMART Domains |
Protein: ENSMUSP00000121245
Gene: ENSMUSG00000039285
AA Change: R51*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TBD
|
1 |
51 |
4.7e-23 |
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 benign
Transcript: ENSMUST00000133580
|
| SMART Domains |
Protein: ENSMUSP00000118765
Gene: ENSMUSG00000039285
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114980
Gene: ENSMUSG00000039285
| 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: ENSMUST00000215799
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.2%
|
| Validation Efficiency |
94% (45/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
C |
5: 107,691,858 (GRCm39) |
S50P |
probably damaging |
Het |
| 4930407I10Rik |
T |
C |
15: 81,949,307 (GRCm39) |
V1068A |
possibly damaging |
Het |
| Acss1 |
A |
G |
2: 150,470,412 (GRCm39) |
|
probably null |
Het |
| Amer2 |
T |
C |
14: 60,617,674 (GRCm39) |
I497T |
probably damaging |
Het |
| Brdt |
A |
G |
5: 107,533,358 (GRCm39) |
D946G |
probably damaging |
Het |
| Bzw2 |
C |
T |
12: 36,157,524 (GRCm39) |
V314I |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,672,954 (GRCm39) |
Y116* |
probably null |
Het |
| Clca4b |
A |
G |
3: 144,625,036 (GRCm39) |
I485T |
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,316,053 (GRCm39) |
T1130S |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,299,014 (GRCm39) |
V3220M |
probably damaging |
Het |
| Cyp4f16 |
T |
A |
17: 32,770,173 (GRCm39) |
L514Q |
probably damaging |
Het |
| D7Ertd443e |
G |
T |
7: 133,951,440 (GRCm39) |
Q31K |
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,831,355 (GRCm39) |
E8G |
probably benign |
Het |
| Ddx24 |
A |
C |
12: 103,391,819 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,066,430 (GRCm39) |
M988V |
possibly damaging |
Het |
| Dlx4 |
A |
G |
11: 95,036,078 (GRCm39) |
V77A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,522,191 (GRCm39) |
|
probably null |
Het |
| Drc1 |
A |
G |
5: 30,513,632 (GRCm39) |
E396G |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Gbp2b |
T |
C |
3: 142,323,899 (GRCm39) |
L568S |
probably benign |
Het |
| Gjb5 |
A |
T |
4: 127,249,940 (GRCm39) |
F68Y |
probably benign |
Het |
| Hs6st3 |
C |
A |
14: 119,376,046 (GRCm39) |
P74T |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,745,133 (GRCm39) |
L1743P |
probably damaging |
Het |
| Lnx1 |
A |
T |
5: 74,846,307 (GRCm39) |
C48S |
probably damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,377,654 (GRCm39) |
H245R |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,798,184 (GRCm39) |
E93G |
probably benign |
Het |
| Mettl6 |
T |
C |
14: 31,201,683 (GRCm39) |
E253G |
probably damaging |
Het |
| Nmu |
A |
T |
5: 76,491,818 (GRCm39) |
F106Y |
probably damaging |
Het |
| Pcsk7 |
T |
C |
9: 45,820,994 (GRCm39) |
I142T |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,536,939 (GRCm39) |
|
probably null |
Het |
| Psmb9 |
G |
T |
17: 34,404,707 (GRCm39) |
A19E |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,429,456 (GRCm39) |
M454T |
probably benign |
Het |
| Raet1e |
A |
G |
10: 22,056,645 (GRCm39) |
T74A |
probably benign |
Het |
| Ralb |
A |
C |
1: 119,405,839 (GRCm39) |
Y43* |
probably null |
Het |
| Ralgapa1 |
C |
A |
12: 55,730,695 (GRCm39) |
E1947* |
probably null |
Het |
| Rnf26rt |
A |
G |
6: 76,473,441 (GRCm39) |
C392R |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,768,934 (GRCm39) |
Y500H |
probably benign |
Het |
| Shroom1 |
A |
C |
11: 53,354,214 (GRCm39) |
T45P |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,142,328 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
A |
G |
3: 79,356,706 (GRCm39) |
R170G |
probably benign |
Het |
| Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,470,164 (GRCm39) |
V888A |
probably benign |
Het |
| Tbc1d8 |
T |
A |
1: 39,441,980 (GRCm39) |
D204V |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,666,643 (GRCm39) |
I388M |
probably benign |
Het |
| Trav7d-4 |
C |
A |
14: 53,007,624 (GRCm39) |
A39D |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 187,999,229 (GRCm39) |
E180* |
probably null |
Het |
| Vmn1r37 |
A |
G |
6: 66,708,563 (GRCm39) |
D63G |
probably benign |
Het |
| Zfp282 |
G |
A |
6: 47,857,319 (GRCm39) |
R184Q |
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 |
|
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 |
|
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'- TTGAACCCTCTCCCACTGAG -3'
(R):5'- GTCAGTCTTCTAGAAGTTGAGATTG -3'
Sequencing Primer
(F):5'- TGAGAAATTTCAGTAAGCCAAAGAAC -3'
(R):5'- CACTGGGAAATGGATTTGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation