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 |
103046977-103056573 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103051334 bp (GRCm38)
|
| 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: 8,127,411 (GRCm38) |
Y566C |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,534,229 (GRCm38) |
|
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,398,406 (GRCm38) |
D104E |
probably damaging |
Het |
| Bcl2a1a |
T |
A |
9: 88,957,447 (GRCm38) |
W133R |
probably damaging |
Het |
| Ckm |
C |
T |
7: 19,416,787 (GRCm38) |
Q184* |
probably null |
Het |
| Clk4 |
T |
A |
11: 51,281,172 (GRCm38) |
Y246* |
probably null |
Het |
| Cyp3a57 |
T |
C |
5: 145,369,068 (GRCm38) |
S121P |
probably damaging |
Het |
| Eif1ad15 |
C |
T |
12: 88,321,088 (GRCm38) |
D132N |
unknown |
Het |
| Gm8011 |
T |
C |
14: 42,465,874 (GRCm38) |
|
probably benign |
Het |
| Gpr153 |
T |
C |
4: 152,282,994 (GRCm38) |
F434S |
probably benign |
Het |
| Gpr158 |
G |
T |
2: 21,827,098 (GRCm38) |
W1003L |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,736,390 (GRCm38) |
E34G |
probably damaging |
Het |
| Igkv16-104 |
G |
T |
6: 68,425,610 (GRCm38) |
R2S |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,150,389 (GRCm38) |
F395L |
probably benign |
Het |
| Myof |
T |
A |
19: 37,936,457 (GRCm38) |
T1161S |
probably damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,557,874 (GRCm38) |
S217P |
probably damaging |
Het |
| Nol9 |
T |
A |
4: 152,058,391 (GRCm38) |
N687K |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,207,500 (GRCm38) |
I295V |
probably damaging |
Het |
| Or11h23 |
T |
C |
14: 50,710,993 (GRCm38) |
V221A |
possibly damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,741,622 (GRCm38) |
E104G |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,426,180 (GRCm38) |
V297D |
probably damaging |
Het |
| Prss1l |
A |
G |
6: 41,396,686 (GRCm38) |
D161G |
possibly damaging |
Het |
| Rrh |
T |
C |
3: 129,808,969 (GRCm38) |
D229G |
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,711,175 (GRCm38) |
T153A |
probably damaging |
Het |
| Slc41a1 |
G |
A |
1: 131,839,124 (GRCm38) |
V127I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,774,294 (GRCm38) |
S214L |
possibly damaging |
Het |
| Tmem63a |
T |
C |
1: 180,970,232 (GRCm38) |
V616A |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,941,131 (GRCm38) |
|
probably benign |
Het |
| Vmn1r228 |
A |
G |
17: 20,776,512 (GRCm38) |
L248P |
probably benign |
Het |
| Zdhhc16 |
T |
A |
19: 41,941,506 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Acod1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01450:Acod1
|
APN |
14 |
103,051,483 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01624:Acod1
|
APN |
14 |
103,055,233 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03323:Acod1
|
APN |
14 |
103,055,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0049:Acod1
|
UTSW |
14 |
103,055,207 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0049:Acod1
|
UTSW |
14 |
103,055,207 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0304:Acod1
|
UTSW |
14 |
103,054,982 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0321:Acod1
|
UTSW |
14 |
103,055,129 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0520:Acod1
|
UTSW |
14 |
103,051,516 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1467:Acod1
|
UTSW |
14 |
103,054,567 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1467:Acod1
|
UTSW |
14 |
103,054,567 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1541:Acod1
|
UTSW |
14 |
103,049,333 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2511:Acod1
|
UTSW |
14 |
103,051,339 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3856:Acod1
|
UTSW |
14 |
103,055,446 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4616:Acod1
|
UTSW |
14 |
103,055,345 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4671:Acod1
|
UTSW |
14 |
103,047,072 (GRCm38) |
missense |
probably benign |
0.15 |
|
R5080:Acod1
|
UTSW |
14 |
103,049,308 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5206:Acod1
|
UTSW |
14 |
103,055,295 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5992:Acod1
|
UTSW |
14 |
103,055,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7228:Acod1
|
UTSW |
14 |
103,049,329 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7585:Acod1
|
UTSW |
14 |
103,054,741 (GRCm38) |
nonsense |
probably null |
|
|
R7762:Acod1
|
UTSW |
14 |
103,051,340 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8337:Acod1
|
UTSW |
14 |
103,049,344 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R8725:Acod1
|
UTSW |
14 |
103,049,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8778:Acod1
|
UTSW |
14 |
103,055,482 (GRCm38) |
missense |
probably benign |
|
|
R9210:Acod1
|
UTSW |
14 |
103,055,090 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9432:Acod1
|
UTSW |
14 |
103,054,978 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9547:Acod1
|
UTSW |
14 |
103,054,858 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9563:Acod1
|
UTSW |
14 |
103,049,673 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-10-07 |
Incidental Mutation