Incidental Mutation 'IGL01368:Acod1'
| ID |
76017 |
| 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 # |
IGL01368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
103284448-103294009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103288770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 93
(D93E)
|
| 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: D93E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022722
Gene: ENSMUSG00000022126
AA Change: D93E
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,177,411 (GRCm39) |
Y566C |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,370,063 (GRCm39) |
|
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,851,050 (GRCm39) |
D104E |
probably damaging |
Het |
| Bcl2a1a |
T |
A |
9: 88,839,500 (GRCm39) |
W133R |
probably damaging |
Het |
| Ckm |
C |
T |
7: 19,150,712 (GRCm39) |
Q184* |
probably null |
Het |
| Clk4 |
T |
A |
11: 51,171,999 (GRCm39) |
Y246* |
probably null |
Het |
| Cyp3a57 |
T |
C |
5: 145,305,878 (GRCm39) |
S121P |
probably damaging |
Het |
| Eif1ad15 |
C |
T |
12: 88,287,858 (GRCm39) |
D132N |
unknown |
Het |
| Gm8011 |
T |
C |
14: 42,287,831 (GRCm39) |
|
probably benign |
Het |
| Gpr153 |
T |
C |
4: 152,367,451 (GRCm39) |
F434S |
probably benign |
Het |
| Gpr158 |
G |
T |
2: 21,831,909 (GRCm39) |
W1003L |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,700,010 (GRCm39) |
E34G |
probably damaging |
Het |
| Igkv16-104 |
G |
T |
6: 68,402,594 (GRCm39) |
R2S |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,041,215 (GRCm39) |
F395L |
probably benign |
Het |
| Myof |
T |
A |
19: 37,924,905 (GRCm39) |
T1161S |
probably damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,257,299 (GRCm39) |
S217P |
probably damaging |
Het |
| Nol9 |
T |
A |
4: 152,142,848 (GRCm39) |
N687K |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,105,381 (GRCm39) |
I295V |
probably damaging |
Het |
| Or11h23 |
T |
C |
14: 50,948,450 (GRCm39) |
V221A |
possibly damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,340,829 (GRCm39) |
E104G |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,337,476 (GRCm39) |
V297D |
probably damaging |
Het |
| Prss1l |
A |
G |
6: 41,373,620 (GRCm39) |
D161G |
possibly damaging |
Het |
| Rrh |
T |
C |
3: 129,602,618 (GRCm39) |
D229G |
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,665,610 (GRCm39) |
T153A |
probably damaging |
Het |
| Slc41a1 |
G |
A |
1: 131,766,862 (GRCm39) |
V127I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,751,694 (GRCm39) |
S214L |
possibly damaging |
Het |
| Tmem63a |
T |
C |
1: 180,797,797 (GRCm39) |
V616A |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,771,612 (GRCm39) |
|
probably benign |
Het |
| Vmn1r228 |
A |
G |
17: 20,996,774 (GRCm39) |
L248P |
probably benign |
Het |
| Zdhhc16 |
T |
A |
19: 41,929,945 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Acod1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation