Incidental Mutation 'IGL01450:Acod1'
| ID |
84600 |
| 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 # |
IGL01450
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
103284448-103294009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103288919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 143
(R143Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022722]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022722
AA Change: R143Q
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022722
Gene: ENSMUSG00000022126
AA Change: R143Q
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
T |
A |
3: 138,129,794 (GRCm39) |
C207S |
probably benign |
Het |
| Akap8 |
C |
A |
17: 32,534,661 (GRCm39) |
R317L |
probably damaging |
Het |
| Aptx |
T |
C |
4: 40,688,133 (GRCm39) |
T182A |
probably damaging |
Het |
| Ccar2 |
A |
T |
14: 70,377,200 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,369 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,539,144 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
G |
2: 13,355,673 (GRCm39) |
|
probably benign |
Het |
| Cyp2j5 |
T |
A |
4: 96,546,927 (GRCm39) |
T196S |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,171,092 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
A |
T |
17: 84,940,984 (GRCm39) |
T67S |
possibly damaging |
Het |
| Fetub |
A |
G |
16: 22,747,986 (GRCm39) |
N54S |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,163,664 (GRCm39) |
Y486H |
probably damaging |
Het |
| Grb10 |
T |
A |
11: 11,920,432 (GRCm39) |
H62L |
probably damaging |
Het |
| H6pd |
T |
G |
4: 150,068,575 (GRCm39) |
H264P |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,520 (GRCm39) |
S747P |
probably benign |
Het |
| Mtcl3 |
T |
A |
10: 29,072,319 (GRCm39) |
M537K |
probably damaging |
Het |
| Nkpd1 |
T |
C |
7: 19,257,550 (GRCm39) |
F293S |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Osbpl1a |
A |
C |
18: 13,004,152 (GRCm39) |
F422V |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,727,207 (GRCm39) |
|
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,968,653 (GRCm39) |
R825C |
probably damaging |
Het |
| Plk2 |
G |
A |
13: 110,532,858 (GRCm39) |
V140M |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,524,244 (GRCm39) |
S388P |
probably benign |
Het |
| Rap1gds1 |
A |
T |
3: 138,671,681 (GRCm39) |
N146K |
probably damaging |
Het |
| Rgs7 |
C |
T |
1: 174,913,746 (GRCm39) |
V1M |
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,519,250 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
G |
11: 106,215,487 (GRCm39) |
I1163T |
probably damaging |
Het |
| Selenop |
C |
T |
15: 3,306,755 (GRCm39) |
T178M |
probably benign |
Het |
| Shank2 |
G |
T |
7: 143,838,805 (GRCm39) |
E680* |
probably null |
Het |
| Sipa1l2 |
A |
C |
8: 126,149,316 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
T |
C |
18: 78,226,745 (GRCm39) |
T437A |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,305,189 (GRCm39) |
P307S |
probably damaging |
Het |
| Sptb |
C |
A |
12: 76,671,014 (GRCm39) |
R443L |
possibly damaging |
Het |
| Stpg3 |
T |
C |
2: 25,104,622 (GRCm39) |
|
probably benign |
Het |
| Tinag |
T |
A |
9: 76,952,858 (GRCm39) |
E42V |
possibly damaging |
Het |
| Topors |
C |
A |
4: 40,262,417 (GRCm39) |
R289L |
probably damaging |
Het |
| Ubash3a |
C |
A |
17: 31,427,205 (GRCm39) |
A38E |
probably damaging |
Het |
| Vmn2r121 |
T |
A |
X: 123,040,888 (GRCm39) |
Y481F |
possibly damaging |
Het |
| Vps54 |
A |
T |
11: 21,241,135 (GRCm39) |
E359D |
probably benign |
Het |
| Xkr6 |
G |
A |
14: 64,035,664 (GRCm39) |
R255H |
probably damaging |
Het |
| Zfp750 |
C |
T |
11: 121,403,855 (GRCm39) |
R340H |
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 |
|
IGL01624:Acod1
|
APN |
14 |
103,292,669 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03323:Acod1
|
APN |
14 |
103,292,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-11 |
Incidental Mutation