Incidental Mutation 'R0697:Aig1'
| ID |
63897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aig1
|
| Ensembl Gene |
ENSMUSG00000019806 |
| Gene Name |
androgen-induced 1 |
| Synonyms |
1500031O19Rik, CGI-103 |
| MMRRC Submission |
038881-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0697 (G1)
|
| Quality Score |
152 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
13522798-13744724 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13705069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 72
(N72S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019942]
[ENSMUST00000105534]
[ENSMUST00000162610]
|
| AlphaFold |
Q9D8B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019942
AA Change: N72S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000019942
Gene: ENSMUSG00000019806
AA Change: N72S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Far-17a_AIG1
|
12 |
219 |
5.6e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105534
AA Change: N72S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101174
Gene: ENSMUSG00000019806
AA Change: N72S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Far-17a_AIG1
|
12 |
178 |
3.4e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162174
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162610
AA Change: N72S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000125366
Gene: ENSMUSG00000019806
AA Change: N72S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Far-17a_AIG1
|
12 |
219 |
5.4e-74 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162869
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
A |
19: 31,888,567 (GRCm39) |
A99E |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,968,939 (GRCm39) |
I857M |
possibly damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,407,445 (GRCm39) |
L24* |
probably null |
Het |
| Cpsf2 |
A |
G |
12: 101,949,443 (GRCm39) |
H53R |
probably benign |
Het |
| Crh |
C |
A |
3: 19,748,241 (GRCm39) |
G134C |
probably damaging |
Het |
| Cyp2g1 |
A |
T |
7: 26,514,152 (GRCm39) |
K253* |
probably null |
Het |
| Dna2 |
T |
C |
10: 62,785,120 (GRCm39) |
V79A |
probably benign |
Het |
| Dsc2 |
A |
G |
18: 20,174,509 (GRCm39) |
V549A |
probably damaging |
Het |
| Etl4 |
G |
T |
2: 20,748,672 (GRCm39) |
V135F |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,483,833 (GRCm39) |
H398R |
probably benign |
Het |
| Gfra1 |
A |
C |
19: 58,258,555 (GRCm39) |
S271A |
probably benign |
Het |
| Htr1b |
T |
C |
9: 81,513,516 (GRCm39) |
I364V |
possibly damaging |
Het |
| Kcnh5 |
A |
T |
12: 75,023,305 (GRCm39) |
C588S |
possibly damaging |
Het |
| Kif13a |
G |
A |
13: 47,001,813 (GRCm39) |
T70I |
probably benign |
Het |
| Klra6 |
T |
C |
6: 129,993,687 (GRCm39) |
I195V |
probably benign |
Het |
| Nras |
T |
C |
3: 102,967,616 (GRCm39) |
Y71H |
possibly damaging |
Het |
| Sirt5 |
T |
C |
13: 43,539,052 (GRCm39) |
F274L |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,757,503 (GRCm39) |
T882A |
probably benign |
Het |
| Vmn1r84 |
A |
T |
7: 12,096,690 (GRCm39) |
M1K |
probably null |
Het |
| Zfhx4 |
A |
T |
3: 5,466,793 (GRCm39) |
E2317V |
probably damaging |
Het |
| Zfp345 |
A |
T |
2: 150,314,829 (GRCm39) |
I236K |
probably benign |
Het |
|
| Other mutations in Aig1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02343:Aig1
|
APN |
10 |
13,744,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02715:Aig1
|
APN |
10 |
13,744,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1699:Aig1
|
UTSW |
10 |
13,744,366 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1761:Aig1
|
UTSW |
10 |
13,566,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3934:Aig1
|
UTSW |
10 |
13,677,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4397:Aig1
|
UTSW |
10 |
13,528,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4736:Aig1
|
UTSW |
10 |
13,677,674 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4767:Aig1
|
UTSW |
10 |
13,677,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5081:Aig1
|
UTSW |
10 |
13,677,644 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5907:Aig1
|
UTSW |
10 |
13,677,528 (GRCm39) |
intron |
probably benign |
|
|
R7944:Aig1
|
UTSW |
10 |
13,744,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9105:Aig1
|
UTSW |
10 |
13,529,339 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9270:Aig1
|
UTSW |
10 |
13,529,505 (GRCm39) |
splice site |
probably null |
|
|
R9381:Aig1
|
UTSW |
10 |
13,523,417 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9778:Aig1
|
UTSW |
10 |
13,528,757 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0018:Aig1
|
UTSW |
10 |
13,566,268 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTTGGGTGAGCCATGAGGTAG -3'
(R):5'- tagcaacagcccaaaccGACGTTTT -3'
Sequencing Primer
(F):5'- GAAAGAGCCCTCATTaaaaaacaaac -3'
(R):5'- ccaaaccGACGTTTTGGGTC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation