Incidental Mutation 'IGL03230:Acly'
ID |
413883 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acly
|
Ensembl Gene |
ENSMUSG00000020917 |
Gene Name |
ATP citrate lyase |
Synonyms |
A730098H14Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03230
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
100367179-100418826 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 100384885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 623
(C623S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007131]
[ENSMUST00000107389]
[ENSMUST00000165111]
|
AlphaFold |
Q91V92 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000007131
AA Change: C623S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000007131 Gene: ENSMUSG00000020917 AA Change: C623S
Domain | Start | End | E-Value | Type |
Pfam:ATP-grasp_2
|
6 |
207 |
2.4e-8 |
PFAM |
low complexity region
|
441 |
457 |
N/A |
INTRINSIC |
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
Pfam:CoA_binding
|
484 |
590 |
3.9e-14 |
PFAM |
Pfam:Ligase_CoA
|
650 |
775 |
1.2e-16 |
PFAM |
Pfam:Citrate_synt
|
868 |
1076 |
4.8e-22 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107389
AA Change: C633S
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103012 Gene: ENSMUSG00000020917 AA Change: C633S
Domain | Start | End | E-Value | Type |
Pfam:Citrate_bind
|
244 |
421 |
1.7e-94 |
PFAM |
low complexity region
|
441 |
457 |
N/A |
INTRINSIC |
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
Pfam:CoA_binding
|
494 |
600 |
6.6e-15 |
PFAM |
Pfam:Ligase_CoA
|
660 |
785 |
2.1e-16 |
PFAM |
Pfam:Citrate_synt
|
879 |
1085 |
2e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152969
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154888
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165111
AA Change: C623S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000127632 Gene: ENSMUSG00000020917 AA Change: C623S
Domain | Start | End | E-Value | Type |
Pfam:ATP-grasp_2
|
6 |
207 |
2.4e-8 |
PFAM |
low complexity region
|
441 |
457 |
N/A |
INTRINSIC |
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
Pfam:CoA_binding
|
484 |
590 |
3.9e-14 |
PFAM |
Pfam:Ligase_CoA
|
650 |
775 |
1.2e-16 |
PFAM |
Pfam:Citrate_synt
|
868 |
1076 |
4.8e-22 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014] PHENOTYPE: Homozygous null mutation of this gene results in embryonic lethality. Heterozygous mutants display no obvious abnormalities. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|
Allele List at MGI |
All alleles(37) : Targeted(1) Gene trapped(35) Transgenic(1)
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
A |
11: 9,244,313 (GRCm39) |
Q2059K |
probably benign |
Het |
Abcc1 |
A |
T |
16: 14,275,811 (GRCm39) |
T902S |
probably benign |
Het |
Ak8 |
A |
G |
2: 28,599,935 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
G |
17: 74,918,065 (GRCm39) |
D1811G |
probably damaging |
Het |
Bms1 |
T |
A |
6: 118,395,522 (GRCm39) |
K8N |
possibly damaging |
Het |
Cdc25b |
T |
C |
2: 131,030,060 (GRCm39) |
F79L |
probably benign |
Het |
Cdh13 |
T |
A |
8: 119,969,056 (GRCm39) |
V471D |
probably damaging |
Het |
Cnot4 |
T |
C |
6: 35,028,344 (GRCm39) |
D424G |
probably damaging |
Het |
Cyp2a12 |
A |
T |
7: 26,729,017 (GRCm39) |
I70F |
possibly damaging |
Het |
Cyp2c66 |
A |
T |
19: 39,172,302 (GRCm39) |
R406W |
possibly damaging |
Het |
Cyp2g1 |
C |
A |
7: 26,518,828 (GRCm39) |
P408Q |
probably damaging |
Het |
Defa26 |
A |
G |
8: 22,108,314 (GRCm39) |
D39G |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 30,992,023 (GRCm39) |
S3020T |
probably damaging |
Het |
Dst |
A |
T |
1: 34,223,133 (GRCm39) |
K1119* |
probably null |
Het |
Gm10110 |
A |
C |
14: 90,135,733 (GRCm39) |
|
noncoding transcript |
Het |
Grk2 |
C |
T |
19: 4,337,857 (GRCm39) |
E508K |
probably benign |
Het |
Hpx |
A |
T |
7: 105,248,519 (GRCm39) |
I94N |
probably benign |
Het |
Il23r |
C |
T |
6: 67,400,948 (GRCm39) |
A461T |
probably benign |
Het |
Iqca1 |
A |
G |
1: 90,072,724 (GRCm39) |
I52T |
probably damaging |
Het |
Kif21b |
T |
A |
1: 136,090,550 (GRCm39) |
M1146K |
probably benign |
Het |
Kifap3 |
C |
A |
1: 163,653,293 (GRCm39) |
T293K |
probably benign |
Het |
Luzp1 |
G |
A |
4: 136,270,189 (GRCm39) |
S804N |
probably benign |
Het |
Mcmdc2 |
C |
T |
1: 10,002,221 (GRCm39) |
|
probably benign |
Het |
Mctp1 |
G |
T |
13: 76,972,976 (GRCm39) |
A403S |
possibly damaging |
Het |
Mtnr1a |
T |
C |
8: 45,540,435 (GRCm39) |
I132T |
probably damaging |
Het |
Musk |
T |
A |
4: 58,296,710 (GRCm39) |
N103K |
probably damaging |
Het |
Nipal2 |
T |
A |
15: 34,575,702 (GRCm39) |
D352V |
probably damaging |
Het |
Oas1a |
T |
A |
5: 121,036,419 (GRCm39) |
K336I |
probably benign |
Het |
Oasl1 |
T |
C |
5: 115,075,115 (GRCm39) |
S392P |
probably damaging |
Het |
Or2ag17 |
A |
G |
7: 106,389,911 (GRCm39) |
L99P |
probably damaging |
Het |
Or3a1c |
A |
G |
11: 74,046,099 (GRCm39) |
T40A |
probably benign |
Het |
Or4c117 |
A |
G |
2: 88,955,892 (GRCm39) |
F61S |
probably damaging |
Het |
Or4c120 |
A |
T |
2: 89,001,433 (GRCm39) |
M41K |
possibly damaging |
Het |
Or4c58 |
T |
C |
2: 89,674,457 (GRCm39) |
T287A |
probably benign |
Het |
Or5m8 |
A |
T |
2: 85,822,583 (GRCm39) |
T141S |
probably benign |
Het |
Pate3 |
T |
G |
9: 35,557,402 (GRCm39) |
T85P |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,174,791 (GRCm39) |
N1988D |
probably damaging |
Het |
Plcxd3 |
T |
A |
15: 4,546,272 (GRCm39) |
I92N |
probably damaging |
Het |
Ptprd |
T |
A |
4: 75,968,654 (GRCm39) |
R213* |
probably null |
Het |
Skic3 |
T |
A |
13: 76,303,766 (GRCm39) |
|
probably benign |
Het |
Slit1 |
T |
C |
19: 41,717,524 (GRCm39) |
D80G |
probably damaging |
Het |
Sorcs1 |
A |
G |
19: 50,230,531 (GRCm39) |
V472A |
probably damaging |
Het |
Trp63 |
T |
A |
16: 25,707,760 (GRCm39) |
D485E |
probably damaging |
Het |
Tsr1 |
T |
C |
11: 74,791,297 (GRCm39) |
V292A |
probably benign |
Het |
Ush2a |
G |
T |
1: 188,198,390 (GRCm39) |
A1485S |
probably benign |
Het |
Vmn1r49 |
T |
A |
6: 90,049,650 (GRCm39) |
R117S |
probably damaging |
Het |
Vmn2r97 |
C |
A |
17: 19,149,668 (GRCm39) |
P352H |
probably benign |
Het |
Zxdc |
C |
T |
6: 90,350,785 (GRCm39) |
T412I |
probably damaging |
Het |
|
Other mutations in Acly |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01336:Acly
|
APN |
11 |
100,386,736 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01661:Acly
|
APN |
11 |
100,405,168 (GRCm39) |
splice site |
probably benign |
|
IGL02349:Acly
|
APN |
11 |
100,410,505 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02792:Acly
|
APN |
11 |
100,369,236 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03026:Acly
|
APN |
11 |
100,410,516 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03144:Acly
|
APN |
11 |
100,405,909 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL03266:Acly
|
APN |
11 |
100,374,578 (GRCm39) |
missense |
probably damaging |
1.00 |
Coyote
|
UTSW |
11 |
100,370,081 (GRCm39) |
missense |
probably damaging |
0.99 |
lupine
|
UTSW |
11 |
100,406,731 (GRCm39) |
missense |
probably damaging |
1.00 |
P0014:Acly
|
UTSW |
11 |
100,375,430 (GRCm39) |
missense |
probably benign |
0.03 |
R0195:Acly
|
UTSW |
11 |
100,403,800 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0319:Acly
|
UTSW |
11 |
100,395,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R0598:Acly
|
UTSW |
11 |
100,369,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R1115:Acly
|
UTSW |
11 |
100,370,081 (GRCm39) |
missense |
probably damaging |
0.99 |
R1201:Acly
|
UTSW |
11 |
100,384,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R1498:Acly
|
UTSW |
11 |
100,374,627 (GRCm39) |
missense |
probably benign |
0.27 |
R1593:Acly
|
UTSW |
11 |
100,372,581 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1804:Acly
|
UTSW |
11 |
100,406,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:Acly
|
UTSW |
11 |
100,386,717 (GRCm39) |
missense |
probably benign |
0.00 |
R1980:Acly
|
UTSW |
11 |
100,386,702 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1997:Acly
|
UTSW |
11 |
100,409,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Acly
|
UTSW |
11 |
100,414,322 (GRCm39) |
missense |
probably benign |
0.01 |
R3001:Acly
|
UTSW |
11 |
100,395,053 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3002:Acly
|
UTSW |
11 |
100,395,053 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3003:Acly
|
UTSW |
11 |
100,395,053 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5194:Acly
|
UTSW |
11 |
100,414,372 (GRCm39) |
missense |
probably benign |
|
R5509:Acly
|
UTSW |
11 |
100,405,805 (GRCm39) |
missense |
probably damaging |
0.97 |
R5594:Acly
|
UTSW |
11 |
100,412,946 (GRCm39) |
splice site |
probably null |
|
R6077:Acly
|
UTSW |
11 |
100,410,583 (GRCm39) |
missense |
probably benign |
|
R6310:Acly
|
UTSW |
11 |
100,373,046 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7099:Acly
|
UTSW |
11 |
100,383,117 (GRCm39) |
splice site |
probably null |
|
R7148:Acly
|
UTSW |
11 |
100,374,608 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7149:Acly
|
UTSW |
11 |
100,375,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R7349:Acly
|
UTSW |
11 |
100,412,817 (GRCm39) |
missense |
probably benign |
|
R7450:Acly
|
UTSW |
11 |
100,370,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R7484:Acly
|
UTSW |
11 |
100,386,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R7687:Acly
|
UTSW |
11 |
100,395,680 (GRCm39) |
critical splice donor site |
probably null |
|
R7728:Acly
|
UTSW |
11 |
100,410,513 (GRCm39) |
missense |
probably benign |
0.06 |
R7728:Acly
|
UTSW |
11 |
100,407,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R7750:Acly
|
UTSW |
11 |
100,368,839 (GRCm39) |
critical splice donor site |
probably null |
|
R8042:Acly
|
UTSW |
11 |
100,405,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R8221:Acly
|
UTSW |
11 |
100,410,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R8407:Acly
|
UTSW |
11 |
100,384,897 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8677:Acly
|
UTSW |
11 |
100,410,569 (GRCm39) |
missense |
probably damaging |
0.96 |
R8721:Acly
|
UTSW |
11 |
100,412,806 (GRCm39) |
critical splice donor site |
probably null |
|
R8861:Acly
|
UTSW |
11 |
100,375,424 (GRCm39) |
critical splice donor site |
probably null |
|
R8894:Acly
|
UTSW |
11 |
100,407,639 (GRCm39) |
missense |
probably benign |
0.21 |
R9171:Acly
|
UTSW |
11 |
100,407,657 (GRCm39) |
missense |
probably benign |
|
R9622:Acly
|
UTSW |
11 |
100,395,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R9632:Acly
|
UTSW |
11 |
100,389,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R9729:Acly
|
UTSW |
11 |
100,407,711 (GRCm39) |
missense |
probably benign |
0.00 |
R9784:Acly
|
UTSW |
11 |
100,389,112 (GRCm39) |
missense |
probably benign |
0.03 |
X0028:Acly
|
UTSW |
11 |
100,386,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |