Incidental Mutation 'IGL03323:Acod1'
ID |
416545 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acod1
|
Ensembl Gene |
ENSMUSG00000022126 |
Gene Name |
aconitate decarboxylase 1 |
Synonyms |
Irg1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03323
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
103284448-103294009 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103292730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 418
(D418V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022722
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022722]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022722
AA Change: D418V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022722 Gene: ENSMUSG00000022126 AA Change: D418V
Domain | Start | End | E-Value | Type |
Pfam:MmgE_PrpD
|
7 |
450 |
1.8e-125 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: LPS-stimulated bone marrow macrophages derived from homozygous null mice fail to produce itaconate and exhibit significantly decreased succinate accumulation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
G |
A |
4: 132,792,739 (GRCm39) |
G1327S |
probably benign |
Het |
Bcl2l15 |
A |
T |
3: 103,740,719 (GRCm39) |
I62L |
probably benign |
Het |
Ccdc7a |
A |
T |
8: 129,785,244 (GRCm39) |
D105E |
probably benign |
Het |
Cldn12 |
C |
A |
5: 5,558,421 (GRCm39) |
G2V |
probably damaging |
Het |
Eapp |
G |
T |
12: 54,720,400 (GRCm39) |
H272N |
probably damaging |
Het |
Fcrla |
A |
G |
1: 170,755,114 (GRCm39) |
|
probably benign |
Het |
Fmnl3 |
C |
T |
15: 99,219,162 (GRCm39) |
G787S |
probably damaging |
Het |
Fmo5 |
G |
T |
3: 97,546,323 (GRCm39) |
|
probably null |
Het |
Golgb1 |
G |
T |
16: 36,733,815 (GRCm39) |
E1021* |
probably null |
Het |
Hspa4 |
A |
T |
11: 53,155,960 (GRCm39) |
N648K |
probably benign |
Het |
Iigp1 |
T |
C |
18: 60,522,896 (GRCm39) |
F5L |
probably benign |
Het |
Lad1 |
T |
A |
1: 135,758,712 (GRCm39) |
|
probably null |
Het |
Man2b2 |
T |
C |
5: 36,975,858 (GRCm39) |
D399G |
probably benign |
Het |
Mc5r |
C |
T |
18: 68,472,286 (GRCm39) |
T215I |
probably benign |
Het |
Mx2 |
A |
G |
16: 97,347,575 (GRCm39) |
S156G |
probably damaging |
Het |
Necap2 |
A |
T |
4: 140,795,533 (GRCm39) |
I242N |
possibly damaging |
Het |
Nme8 |
C |
T |
13: 19,873,120 (GRCm39) |
E175K |
probably benign |
Het |
Notch4 |
T |
A |
17: 34,801,445 (GRCm39) |
C1098S |
probably damaging |
Het |
Or1j16 |
T |
A |
2: 36,530,153 (GRCm39) |
M34K |
possibly damaging |
Het |
Or7a42 |
T |
C |
10: 78,791,434 (GRCm39) |
Y132H |
probably benign |
Het |
Osbpl9 |
A |
G |
4: 108,919,656 (GRCm39) |
|
probably benign |
Het |
Prag1 |
T |
C |
8: 36,607,162 (GRCm39) |
S968P |
probably damaging |
Het |
Qsox2 |
A |
G |
2: 26,110,991 (GRCm39) |
S125P |
probably benign |
Het |
Rptn |
A |
G |
3: 93,304,460 (GRCm39) |
T598A |
probably benign |
Het |
Slc2a2 |
G |
A |
3: 28,780,439 (GRCm39) |
M375I |
probably damaging |
Het |
Tmed9 |
C |
T |
13: 55,744,691 (GRCm39) |
T173I |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,181,184 (GRCm39) |
D402G |
probably damaging |
Het |
Ttc21a |
G |
T |
9: 119,769,602 (GRCm39) |
|
probably benign |
Het |
Vmn2r58 |
T |
C |
7: 41,511,295 (GRCm39) |
M503V |
probably benign |
Het |
|
Other mutations in Acod1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01368:Acod1
|
APN |
14 |
103,288,770 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01450:Acod1
|
APN |
14 |
103,288,919 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL01624:Acod1
|
APN |
14 |
103,292,669 (GRCm39) |
missense |
probably benign |
0.03 |
R0049:Acod1
|
UTSW |
14 |
103,292,643 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0049:Acod1
|
UTSW |
14 |
103,292,643 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0304:Acod1
|
UTSW |
14 |
103,292,418 (GRCm39) |
missense |
probably damaging |
0.97 |
R0321:Acod1
|
UTSW |
14 |
103,292,565 (GRCm39) |
missense |
probably benign |
0.13 |
R0520:Acod1
|
UTSW |
14 |
103,288,952 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1467:Acod1
|
UTSW |
14 |
103,292,003 (GRCm39) |
missense |
probably benign |
0.00 |
R1467:Acod1
|
UTSW |
14 |
103,292,003 (GRCm39) |
missense |
probably benign |
0.00 |
R1541:Acod1
|
UTSW |
14 |
103,286,769 (GRCm39) |
missense |
probably damaging |
0.98 |
R2511:Acod1
|
UTSW |
14 |
103,288,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R3856:Acod1
|
UTSW |
14 |
103,292,882 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4616:Acod1
|
UTSW |
14 |
103,292,781 (GRCm39) |
missense |
probably benign |
0.10 |
R4671:Acod1
|
UTSW |
14 |
103,284,508 (GRCm39) |
missense |
probably benign |
0.15 |
R5080:Acod1
|
UTSW |
14 |
103,286,744 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5206:Acod1
|
UTSW |
14 |
103,292,731 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5992:Acod1
|
UTSW |
14 |
103,292,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R7228:Acod1
|
UTSW |
14 |
103,286,765 (GRCm39) |
missense |
probably benign |
0.04 |
R7585:Acod1
|
UTSW |
14 |
103,292,177 (GRCm39) |
nonsense |
probably null |
|
R7762:Acod1
|
UTSW |
14 |
103,288,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R8337:Acod1
|
UTSW |
14 |
103,286,780 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8725:Acod1
|
UTSW |
14 |
103,287,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R8778:Acod1
|
UTSW |
14 |
103,292,918 (GRCm39) |
missense |
probably benign |
|
R9210:Acod1
|
UTSW |
14 |
103,292,526 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9432:Acod1
|
UTSW |
14 |
103,292,414 (GRCm39) |
missense |
probably damaging |
0.96 |
R9547:Acod1
|
UTSW |
14 |
103,292,294 (GRCm39) |
missense |
probably benign |
0.03 |
R9563:Acod1
|
UTSW |
14 |
103,287,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2016-08-02 |