Incidental Mutation 'R0486:Aco1'
| ID |
42271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aco1
|
| Ensembl Gene |
ENSMUSG00000028405 |
| Gene Name |
aconitase 1 |
| Synonyms |
Irp1, Aco-1, Irebp |
| MMRRC Submission |
038685-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.421)
|
| Stock # |
R0486 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
40143081-40198338 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40177783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 268
(L268P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102973]
|
| AlphaFold |
P28271 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102973
AA Change: L268P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000100038
Gene: ENSMUSG00000028405
AA Change: L268P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aconitase
|
54 |
564 |
4.5e-180 |
PFAM |
|
Pfam:Aconitase_C
|
692 |
821 |
1e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142360
|
| Meta Mutation Damage Score |
0.9749 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
98% (65/66) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the aconitase/IPM isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Depending on iron levels in the cytosol, the encoded protein can function as either an aconitase enzyme or as an mRNA binding protein. When cellular iron levels are high, the encoded protein functions as an aconitase, an essential enzyme in the TCA cycle that catalyzes the conversion of citrate to isocitrate. When cellular iron levels are low, the encoded protein regulates iron uptake and utilization by binding to iron-responsive elements in the untranslated regions of mRNAs for genes involved in iron metabolism. Disruption of this gene is associated with pulmonary hypertension and polycythemia. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display no obvious phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
T |
5: 8,380,048 (GRCm39) |
H83Q |
probably damaging |
Het |
| Anln |
T |
C |
9: 22,264,122 (GRCm39) |
D886G |
probably benign |
Het |
| Arhgef11 |
T |
A |
3: 87,596,159 (GRCm39) |
|
probably null |
Het |
| Ark2c |
T |
A |
18: 77,571,950 (GRCm39) |
Q91L |
probably damaging |
Het |
| Arl8b |
A |
T |
6: 108,792,287 (GRCm39) |
D116V |
possibly damaging |
Het |
| BC051665 |
C |
T |
13: 60,931,859 (GRCm39) |
G180D |
probably damaging |
Het |
| Bloc1s2 |
A |
G |
19: 44,131,589 (GRCm39) |
|
probably benign |
Het |
| Ccdc185 |
T |
G |
1: 182,575,424 (GRCm39) |
S422R |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,915,408 (GRCm39) |
K720E |
possibly damaging |
Het |
| Cdh23 |
C |
A |
10: 60,222,725 (GRCm39) |
A1236S |
probably damaging |
Het |
| Chd1 |
G |
A |
17: 15,954,604 (GRCm39) |
A491T |
probably damaging |
Het |
| Chdh |
T |
C |
14: 29,754,815 (GRCm39) |
V275A |
possibly damaging |
Het |
| Cmtm2b |
A |
T |
8: 105,057,047 (GRCm39) |
I136F |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,204,551 (GRCm39) |
V457A |
probably damaging |
Het |
| Cwf19l1 |
A |
G |
19: 44,103,129 (GRCm39) |
V362A |
probably benign |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,797 (GRCm39) |
|
probably benign |
Het |
| Cyp4f18 |
C |
A |
8: 72,749,861 (GRCm39) |
V263L |
probably benign |
Het |
| Dclre1a |
A |
G |
19: 56,529,922 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,866,640 (GRCm39) |
I446T |
probably benign |
Het |
| F11r |
T |
C |
1: 171,288,156 (GRCm39) |
W61R |
probably damaging |
Het |
| Fam120b |
C |
T |
17: 15,646,550 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,791,499 (GRCm39) |
V669A |
possibly damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,314 (GRCm39) |
|
probably benign |
Het |
| Foxo3 |
A |
G |
10: 42,073,477 (GRCm39) |
Y347H |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gbp7 |
C |
A |
3: 142,252,078 (GRCm39) |
|
probably benign |
Het |
| Glipr1 |
T |
C |
10: 111,832,754 (GRCm39) |
|
probably benign |
Het |
| Gm11555 |
A |
G |
11: 99,540,986 (GRCm39) |
S8P |
unknown |
Het |
| H6pd |
G |
A |
4: 150,067,393 (GRCm39) |
|
probably benign |
Het |
| Haus8 |
C |
A |
8: 71,709,181 (GRCm39) |
G76W |
probably damaging |
Het |
| Haus8 |
C |
T |
8: 71,709,182 (GRCm39) |
M75I |
probably benign |
Het |
| Kcnj13 |
C |
A |
1: 87,314,752 (GRCm39) |
V157L |
probably damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,437,218 (GRCm39) |
C550* |
probably null |
Het |
| Kdm5d |
A |
G |
Y: 927,107 (GRCm39) |
N615S |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ncapd2 |
G |
A |
6: 125,160,990 (GRCm39) |
R292* |
probably null |
Het |
| Ngef |
T |
A |
1: 87,406,848 (GRCm39) |
N640I |
probably damaging |
Het |
| Nhlrc3 |
T |
C |
3: 53,359,858 (GRCm39) |
Y335C |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,368,354 (GRCm39) |
|
probably benign |
Het |
| Nop2 |
A |
G |
6: 125,117,636 (GRCm39) |
K434R |
probably null |
Het |
| Nr4a3 |
T |
C |
4: 48,056,525 (GRCm39) |
|
probably benign |
Het |
| Or8b35 |
A |
G |
9: 37,903,998 (GRCm39) |
N70S |
possibly damaging |
Het |
| Piezo2 |
A |
C |
18: 63,162,132 (GRCm39) |
I2233R |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,613,787 (GRCm39) |
E1113V |
probably damaging |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,022,012 (GRCm39) |
N611K |
probably damaging |
Het |
| Ptpn7 |
C |
T |
1: 135,065,096 (GRCm39) |
T168I |
probably damaging |
Het |
| Pus1 |
A |
T |
5: 110,927,596 (GRCm39) |
V53E |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,093,028 (GRCm39) |
M415T |
probably damaging |
Het |
| Rnf17 |
C |
T |
14: 56,751,632 (GRCm39) |
T1490M |
probably benign |
Het |
| Rnf20 |
C |
A |
4: 49,645,907 (GRCm39) |
L332I |
possibly damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spam1 |
A |
T |
6: 24,796,394 (GRCm39) |
Q115L |
probably damaging |
Het |
| Syce1l |
A |
T |
8: 114,381,395 (GRCm39) |
|
probably null |
Het |
| Synj1 |
T |
C |
16: 90,735,151 (GRCm39) |
|
probably benign |
Het |
| Tas2r126 |
A |
T |
6: 42,412,225 (GRCm39) |
I253F |
probably benign |
Het |
| Tecpr2 |
G |
A |
12: 110,862,803 (GRCm39) |
V72I |
probably benign |
Het |
| Tfap2a |
G |
T |
13: 40,882,170 (GRCm39) |
P45Q |
probably damaging |
Het |
| Trip12 |
C |
A |
1: 84,738,805 (GRCm39) |
G714* |
probably null |
Het |
| Wdr31 |
A |
G |
4: 62,372,130 (GRCm39) |
S330P |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,622,769 (GRCm39) |
|
probably benign |
Het |
| Yes1 |
T |
A |
5: 32,812,926 (GRCm39) |
Y343* |
probably null |
Het |
|
| Other mutations in Aco1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00813:Aco1
|
APN |
4 |
40,180,290 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01081:Aco1
|
APN |
4 |
40,197,576 (GRCm39) |
missense |
probably benign |
|
|
IGL01364:Aco1
|
APN |
4 |
40,181,380 (GRCm39) |
splice site |
probably null |
|
|
IGL01733:Aco1
|
APN |
4 |
40,175,738 (GRCm39) |
splice site |
probably benign |
|
|
IGL02232:Aco1
|
APN |
4 |
40,175,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02709:Aco1
|
APN |
4 |
40,180,199 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03164:Aco1
|
APN |
4 |
40,167,116 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03208:Aco1
|
APN |
4 |
40,186,424 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03324:Aco1
|
APN |
4 |
40,186,363 (GRCm39) |
missense |
probably benign |
|
|
IGL03353:Aco1
|
APN |
4 |
40,175,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
krebs
|
UTSW |
4 |
40,180,210 (GRCm39) |
nonsense |
probably null |
|
|
R0002:Aco1
|
UTSW |
4 |
40,176,649 (GRCm39) |
splice site |
probably benign |
|
|
R0636:Aco1
|
UTSW |
4 |
40,175,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1344:Aco1
|
UTSW |
4 |
40,179,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Aco1
|
UTSW |
4 |
40,197,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1889:Aco1
|
UTSW |
4 |
40,164,607 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1932:Aco1
|
UTSW |
4 |
40,176,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Aco1
|
UTSW |
4 |
40,167,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1965:Aco1
|
UTSW |
4 |
40,175,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Aco1
|
UTSW |
4 |
40,175,845 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2072:Aco1
|
UTSW |
4 |
40,183,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Aco1
|
UTSW |
4 |
40,183,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2074:Aco1
|
UTSW |
4 |
40,183,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3155:Aco1
|
UTSW |
4 |
40,182,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Aco1
|
UTSW |
4 |
40,167,139 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4999:Aco1
|
UTSW |
4 |
40,176,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5131:Aco1
|
UTSW |
4 |
40,163,797 (GRCm39) |
missense |
probably benign |
|
|
R5354:Aco1
|
UTSW |
4 |
40,180,290 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5380:Aco1
|
UTSW |
4 |
40,177,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6352:Aco1
|
UTSW |
4 |
40,186,367 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6353:Aco1
|
UTSW |
4 |
40,186,367 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6380:Aco1
|
UTSW |
4 |
40,185,028 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6540:Aco1
|
UTSW |
4 |
40,186,367 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6751:Aco1
|
UTSW |
4 |
40,188,330 (GRCm39) |
splice site |
probably null |
|
|
R6760:Aco1
|
UTSW |
4 |
40,180,210 (GRCm39) |
nonsense |
probably null |
|
|
R6833:Aco1
|
UTSW |
4 |
40,164,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6834:Aco1
|
UTSW |
4 |
40,164,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7019:Aco1
|
UTSW |
4 |
40,186,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Aco1
|
UTSW |
4 |
40,180,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7912:Aco1
|
UTSW |
4 |
40,184,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8188:Aco1
|
UTSW |
4 |
40,180,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8329:Aco1
|
UTSW |
4 |
40,186,376 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8346:Aco1
|
UTSW |
4 |
40,177,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8796:Aco1
|
UTSW |
4 |
40,179,037 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCTGGAACCGAAAGGCTTC -3'
(R):5'- ACGCGATGCTAACTTCATCAACCG -3'
Sequencing Primer
(F):5'- tccccgccctctccttc -3'
(R):5'- CTTCATCAACCGGGAAGAAGG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation