Incidental Mutation 'R8861:Acly'
ID |
675670 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acly
|
Ensembl Gene |
ENSMUSG00000020917 |
Gene Name |
ATP citrate lyase |
Synonyms |
A730098H14Rik |
MMRRC Submission |
068740-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8861 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
100367179-100418826 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 100375424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007131]
[ENSMUST00000107389]
[ENSMUST00000165111]
|
AlphaFold |
Q91V92 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007131
|
SMART Domains |
Protein: ENSMUSP00000007131 Gene: ENSMUSG00000020917
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 null
Transcript: ENSMUST00000107389
|
SMART Domains |
Protein: ENSMUSP00000103012 Gene: ENSMUSG00000020917
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 |
probably benign
Transcript: ENSMUST00000165111
|
SMART Domains |
Protein: ENSMUSP00000127632 Gene: ENSMUSG00000020917
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (59/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110082I17Rik |
T |
C |
5: 139,396,642 (GRCm39) |
|
probably benign |
Het |
Agap2 |
T |
G |
10: 126,926,383 (GRCm39) |
V896G |
unknown |
Het |
Agtpbp1 |
T |
C |
13: 59,643,287 (GRCm39) |
Y724C |
probably damaging |
Het |
Angpt4 |
A |
G |
2: 151,767,373 (GRCm39) |
N135D |
probably damaging |
Het |
Aox3 |
T |
A |
1: 58,189,460 (GRCm39) |
I387K |
probably benign |
Het |
Bysl |
T |
C |
17: 47,917,884 (GRCm39) |
E103G |
probably benign |
Het |
Cdcp3 |
A |
T |
7: 130,861,690 (GRCm39) |
K1168* |
probably null |
Het |
Chmp5 |
T |
A |
4: 40,964,608 (GRCm39) |
V208E |
probably damaging |
Het |
Chst9 |
T |
G |
18: 15,585,630 (GRCm39) |
H311P |
possibly damaging |
Het |
Cilk1 |
T |
A |
9: 78,071,844 (GRCm39) |
N505K |
probably benign |
Het |
Dcaf11 |
C |
A |
14: 55,801,955 (GRCm39) |
Y235* |
probably null |
Het |
Dlx5 |
A |
C |
6: 6,878,233 (GRCm39) |
S266A |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,280,236 (GRCm39) |
S2722T |
possibly damaging |
Het |
Drc1 |
G |
A |
5: 30,521,839 (GRCm39) |
|
probably benign |
Het |
En2 |
T |
A |
5: 28,371,733 (GRCm39) |
I70N |
probably damaging |
Het |
Fam72a |
T |
C |
1: 131,466,656 (GRCm39) |
Y147H |
possibly damaging |
Het |
Fermt2 |
A |
T |
14: 45,697,466 (GRCm39) |
F628L |
possibly damaging |
Het |
Fkrp |
T |
A |
7: 16,544,749 (GRCm39) |
D371V |
probably damaging |
Het |
Fmn1 |
T |
C |
2: 113,195,149 (GRCm39) |
L283P |
unknown |
Het |
Gm13271 |
G |
A |
4: 88,673,366 (GRCm39) |
V88I |
probably benign |
Het |
Gnmt |
G |
A |
17: 47,037,618 (GRCm39) |
T120M |
probably damaging |
Het |
H2-T22 |
A |
T |
17: 36,353,290 (GRCm39) |
V10D |
possibly damaging |
Het |
Hbs1l |
T |
A |
10: 21,220,963 (GRCm39) |
|
probably benign |
Het |
Igf2bp3 |
A |
C |
6: 49,082,550 (GRCm39) |
M344R |
possibly damaging |
Het |
Kdm1b |
T |
C |
13: 47,217,582 (GRCm39) |
V347A |
probably benign |
Het |
Klra17 |
A |
T |
6: 129,851,865 (GRCm39) |
S2R |
probably damaging |
Het |
Klri1 |
A |
G |
6: 129,675,164 (GRCm39) |
S199P |
probably benign |
Het |
Ltk |
T |
A |
2: 119,590,094 (GRCm39) |
Q44L |
probably benign |
Het |
Map3k20 |
C |
A |
2: 72,219,811 (GRCm39) |
|
probably benign |
Het |
Matn4 |
A |
T |
2: 164,234,825 (GRCm39) |
Y549N |
|
Het |
Mcoln3 |
T |
A |
3: 145,845,159 (GRCm39) |
F452I |
probably damaging |
Het |
Mipol1 |
T |
C |
12: 57,352,802 (GRCm39) |
V47A |
probably benign |
Het |
Msh4 |
A |
G |
3: 153,607,105 (GRCm39) |
L145S |
probably benign |
Het |
Myh11 |
A |
T |
16: 14,064,646 (GRCm39) |
I224N |
|
Het |
Nat8f1 |
A |
G |
6: 85,887,444 (GRCm39) |
L172P |
probably damaging |
Het |
Ncoa7 |
T |
A |
10: 30,567,364 (GRCm39) |
K438I |
probably benign |
Het |
Nr1h3 |
T |
G |
2: 91,024,026 (GRCm39) |
|
probably benign |
Het |
Nuggc |
T |
C |
14: 65,847,484 (GRCm39) |
|
probably null |
Het |
Or4b12 |
T |
C |
2: 90,096,803 (GRCm39) |
|
probably benign |
Het |
Or5m9b |
A |
G |
2: 85,905,960 (GRCm39) |
N292S |
probably damaging |
Het |
Or7h8 |
A |
T |
9: 20,124,377 (GRCm39) |
H244L |
probably damaging |
Het |
Pfn4 |
T |
A |
12: 4,825,456 (GRCm39) |
Y98N |
probably benign |
Het |
Ppp6r2 |
T |
G |
15: 89,143,368 (GRCm39) |
C172G |
probably damaging |
Het |
Ptprk |
A |
G |
10: 28,446,186 (GRCm39) |
D979G |
probably damaging |
Het |
Rbm28 |
A |
G |
6: 29,152,284 (GRCm39) |
I329T |
probably damaging |
Het |
Rnf144a |
T |
C |
12: 26,389,343 (GRCm39) |
T33A |
probably damaging |
Het |
Rnf145 |
A |
G |
11: 44,445,984 (GRCm39) |
T273A |
probably damaging |
Het |
Rnf213 |
G |
A |
11: 119,333,062 (GRCm39) |
R2758H |
|
Het |
Slc22a19 |
A |
T |
19: 7,660,324 (GRCm39) |
M362K |
possibly damaging |
Het |
Slc29a4 |
G |
C |
5: 142,704,580 (GRCm39) |
R374P |
probably damaging |
Het |
Slc43a1 |
A |
G |
2: 84,691,748 (GRCm39) |
T528A |
possibly damaging |
Het |
Sp3 |
A |
T |
2: 72,801,630 (GRCm39) |
Y172N |
probably damaging |
Het |
Srpra |
T |
A |
9: 35,127,045 (GRCm39) |
M573K |
probably benign |
Het |
Steap4 |
A |
G |
5: 8,025,672 (GRCm39) |
I78V |
probably benign |
Het |
Sulf2 |
A |
G |
2: 165,974,606 (GRCm39) |
L26P |
possibly damaging |
Het |
Taok2 |
T |
C |
7: 126,470,615 (GRCm39) |
K738E |
probably damaging |
Het |
Tcea3 |
G |
A |
4: 135,981,810 (GRCm39) |
R56H |
probably damaging |
Het |
Tcf20 |
A |
G |
15: 82,736,726 (GRCm39) |
V1575A |
probably damaging |
Het |
Togaram1 |
T |
G |
12: 65,027,406 (GRCm39) |
S798R |
possibly 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 |
IGL03230:Acly
|
APN |
11 |
100,384,885 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGCCTCAGAAACCAAAC -3'
(R):5'- TGACCAGCCTAGTAAAGTTGC -3'
Sequencing Primer
(F):5'- GGTTTAACACCAGCCTCATTGG -3'
(R):5'- GACCAGCCTAGTAAAGTTGCTGTTC -3'
|
Posted On |
2021-07-15 |