Incidental Mutation 'R1320:Aco2'
| ID |
157665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aco2
|
| Ensembl Gene |
ENSMUSG00000022477 |
| Gene Name |
aconitase 2, mitochondrial |
| Synonyms |
Aco3, Irp1, D10Wsu183e, Aco-2 |
| MMRRC Submission |
039386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R1320 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81756664-81799338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81779394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 33
(S33L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023116]
[ENSMUST00000229068]
[ENSMUST00000231091]
|
| AlphaFold |
Q99KI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023116
AA Change: S66L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023116
Gene: ENSMUSG00000022477
AA Change: S66L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aconitase
|
65 |
503 |
2.2e-160 |
PFAM |
|
Pfam:Aconitase_C
|
582 |
712 |
5e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229068
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230669
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231075
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231091
AA Change: S33L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.5289 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
T |
2: 26,879,258 (GRCm39) |
I604F |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,687 (GRCm39) |
D67G |
probably damaging |
Het |
| Pole |
AGGGG |
AGGG |
5: 110,456,995 (GRCm39) |
|
probably null |
Het |
| Psmg2 |
G |
A |
18: 67,777,391 (GRCm39) |
V24I |
probably damaging |
Het |
| R3hdm1 |
G |
A |
1: 128,159,142 (GRCm39) |
R939H |
probably benign |
Het |
| Sp140 |
T |
C |
1: 85,563,329 (GRCm39) |
|
probably null |
Het |
| Stim1 |
T |
G |
7: 102,057,613 (GRCm39) |
I142S |
possibly damaging |
Het |
| Tanc2 |
T |
A |
11: 105,777,270 (GRCm39) |
I816N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,560,859 (GRCm39) |
D29181N |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,908,619 (GRCm39) |
N1029S |
probably damaging |
Het |
|
| Other mutations in Aco2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Aco2
|
APN |
15 |
81,797,915 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02450:Aco2
|
APN |
15 |
81,798,963 (GRCm39) |
makesense |
probably null |
|
|
IGL03408:Aco2
|
APN |
15 |
81,783,424 (GRCm39) |
critical splice donor site |
probably null |
|
|
ANU22:Aco2
|
UTSW |
15 |
81,797,915 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0066:Aco2
|
UTSW |
15 |
81,787,666 (GRCm39) |
splice site |
probably benign |
|
|
R0066:Aco2
|
UTSW |
15 |
81,787,666 (GRCm39) |
splice site |
probably benign |
|
|
R0254:Aco2
|
UTSW |
15 |
81,773,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0408:Aco2
|
UTSW |
15 |
81,797,319 (GRCm39) |
splice site |
probably null |
|
|
R0535:Aco2
|
UTSW |
15 |
81,797,418 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0839:Aco2
|
UTSW |
15 |
81,791,736 (GRCm39) |
splice site |
probably null |
|
|
R1199:Aco2
|
UTSW |
15 |
81,779,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1201:Aco2
|
UTSW |
15 |
81,779,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1321:Aco2
|
UTSW |
15 |
81,779,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1322:Aco2
|
UTSW |
15 |
81,779,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Aco2
|
UTSW |
15 |
81,797,896 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2275:Aco2
|
UTSW |
15 |
81,779,465 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2297:Aco2
|
UTSW |
15 |
81,788,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4414:Aco2
|
UTSW |
15 |
81,773,584 (GRCm39) |
splice site |
probably null |
|
|
R4497:Aco2
|
UTSW |
15 |
81,779,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4498:Aco2
|
UTSW |
15 |
81,779,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Aco2
|
UTSW |
15 |
81,794,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5556:Aco2
|
UTSW |
15 |
81,773,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Aco2
|
UTSW |
15 |
81,787,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6103:Aco2
|
UTSW |
15 |
81,797,452 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6912:Aco2
|
UTSW |
15 |
81,779,597 (GRCm39) |
missense |
probably benign |
|
|
R7319:Aco2
|
UTSW |
15 |
81,787,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Aco2
|
UTSW |
15 |
81,788,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:Aco2
|
UTSW |
15 |
81,756,685 (GRCm39) |
unclassified |
probably benign |
|
|
R8792:Aco2
|
UTSW |
15 |
81,793,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Aco2
|
UTSW |
15 |
81,796,128 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8957:Aco2
|
UTSW |
15 |
81,773,701 (GRCm39) |
intron |
probably benign |
|
|
R9014:Aco2
|
UTSW |
15 |
81,798,857 (GRCm39) |
missense |
probably benign |
|
|
R9037:Aco2
|
UTSW |
15 |
81,756,620 (GRCm39) |
unclassified |
probably benign |
|
|
R9038:Aco2
|
UTSW |
15 |
81,756,620 (GRCm39) |
unclassified |
probably benign |
|
|
R9039:Aco2
|
UTSW |
15 |
81,756,620 (GRCm39) |
unclassified |
probably benign |
|
|
R9562:Aco2
|
UTSW |
15 |
81,773,635 (GRCm39) |
missense |
probably null |
0.30 |
|
R9565:Aco2
|
UTSW |
15 |
81,773,635 (GRCm39) |
missense |
probably null |
0.30 |
|
Z1177:Aco2
|
UTSW |
15 |
81,779,513 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Aco2
|
UTSW |
15 |
81,779,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGGGGCTTTATGTAACCCAAAC -3'
(R):5'- AGGCAGCCCACTGCTAATGAAC -3'
Sequencing Primer
(F):5'- tgcctcccataatgctgac -3'
(R):5'- TGAACTGTAGCATAGCCATCTGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation