Incidental Mutation 'R7149:Acly'
| ID |
554014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acly
|
| Ensembl Gene |
ENSMUSG00000020917 |
| Gene Name |
ATP citrate lyase |
| Synonyms |
A730098H14Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7149 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100367179-100418826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 100375451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 790
(F790V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007131]
[ENSMUST00000107389]
[ENSMUST00000165111]
|
| AlphaFold |
Q91V92 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007131
AA Change: F780V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917
AA Change: F780V
| 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: F790V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917
AA Change: F790V
| 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 damaging
Transcript: ENSMUST00000165111
AA Change: F780V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917
AA Change: F780V
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf4 |
AAGCGGGCTGAGC |
AAGC |
15: 80,141,500 (GRCm39) |
|
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,737,650 (GRCm39) |
|
probably null |
Het |
| Bsn |
A |
T |
9: 107,993,520 (GRCm39) |
L744* |
probably null |
Het |
| Capn9 |
A |
G |
8: 125,332,448 (GRCm39) |
D429G |
probably benign |
Het |
| CK137956 |
A |
T |
4: 127,864,626 (GRCm39) |
M1K |
probably null |
Het |
| Cnot6 |
G |
A |
11: 49,570,970 (GRCm39) |
P341S |
probably benign |
Het |
| Cracdl |
G |
A |
1: 37,651,352 (GRCm39) |
Q1172* |
probably null |
Het |
| Dld |
T |
G |
12: 31,385,589 (GRCm39) |
I251L |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,240,492 (GRCm39) |
K253R |
probably benign |
Het |
| Dnmt3a |
C |
T |
12: 3,952,397 (GRCm39) |
P696L |
probably damaging |
Het |
| Dph1 |
T |
C |
11: 75,070,001 (GRCm39) |
K409E |
probably benign |
Het |
| Dsg2 |
T |
C |
18: 20,712,511 (GRCm39) |
S172P |
probably damaging |
Het |
| Gm1979 |
T |
C |
5: 26,206,945 (GRCm39) |
N136S |
probably benign |
Het |
| Gm2663 |
A |
T |
6: 40,974,891 (GRCm39) |
L60Q |
probably damaging |
Het |
| Hdac10 |
A |
G |
15: 89,011,652 (GRCm39) |
F144S |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,756,494 (GRCm39) |
T430A |
unknown |
Het |
| Itgb2l |
T |
C |
16: 96,234,759 (GRCm39) |
D244G |
probably damaging |
Het |
| Klk1b9 |
A |
T |
7: 43,628,841 (GRCm39) |
Y115F |
probably benign |
Het |
| Llcfc1 |
C |
A |
6: 41,662,251 (GRCm39) |
A85E |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 40,527,872 (GRCm39) |
V4330M |
|
Het |
| Map3k13 |
A |
G |
16: 21,744,187 (GRCm39) |
E811G |
probably benign |
Het |
| Myl6b |
A |
G |
10: 128,333,068 (GRCm39) |
|
probably null |
Het |
| Myo15a |
G |
A |
11: 60,400,836 (GRCm39) |
A2997T |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,837,277 (GRCm39) |
D29G |
probably benign |
Het |
| Nepro |
T |
A |
16: 44,550,078 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
T |
A |
11: 71,072,482 (GRCm39) |
R454* |
probably null |
Het |
| Nlrp4a |
T |
C |
7: 26,149,863 (GRCm39) |
V490A |
probably benign |
Het |
| Or1e1f |
G |
A |
11: 73,856,257 (GRCm39) |
M274I |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,306,260 (GRCm39) |
V224A |
probably damaging |
Het |
| Pde8b |
T |
G |
13: 95,223,349 (GRCm39) |
M197L |
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,571,895 (GRCm39) |
K1166* |
probably null |
Het |
| Plekhm1 |
A |
G |
11: 103,285,742 (GRCm39) |
I231T |
probably damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,146,599 (GRCm39) |
I199T |
probably damaging |
Het |
| Ptch1 |
G |
T |
13: 63,659,550 (GRCm39) |
H1368N |
probably benign |
Het |
| Ptprj |
T |
A |
2: 90,274,790 (GRCm39) |
T1191S |
possibly damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,610,712 (GRCm39) |
S748P |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,222,079 (GRCm39) |
D445G |
possibly damaging |
Het |
| Rnmt |
T |
C |
18: 68,452,222 (GRCm39) |
S420P |
probably damaging |
Het |
| Sgms2 |
A |
G |
3: 131,129,908 (GRCm39) |
F160S |
possibly damaging |
Het |
| Sim1 |
G |
T |
10: 50,785,636 (GRCm39) |
R235L |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,690,178 (GRCm39) |
S192P |
probably damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,029,716 (GRCm39) |
D101E |
probably benign |
Het |
| Smarcc2 |
G |
A |
10: 128,318,598 (GRCm39) |
V627M |
probably damaging |
Het |
| Supt20 |
G |
A |
3: 54,635,832 (GRCm39) |
R241H |
unknown |
Het |
| Tagln2 |
T |
A |
1: 172,333,386 (GRCm39) |
I80N |
probably damaging |
Het |
| Tmod2 |
G |
A |
9: 75,489,167 (GRCm39) |
T226I |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,030,654 (GRCm39) |
I827F |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,989 (GRCm39) |
M714K |
possibly damaging |
Het |
| Vps8 |
C |
A |
16: 21,278,526 (GRCm39) |
D261E |
probably damaging |
Het |
| Yeats2 |
C |
A |
16: 19,972,939 (GRCm39) |
A31E |
probably damaging |
Het |
| Zfp451 |
C |
T |
1: 33,816,405 (GRCm39) |
R515Q |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,605 (GRCm39) |
S387G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATGGTTTTCCCTGTAGTGC -3'
(R):5'- GCTGAGAGCTAACCTTCCTTC -3'
Sequencing Primer
(F):5'- TTCCCTGTAGTGCATTAGAGC -3'
(R):5'- CCAGCCTGTGGTCAGTACTAATG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation