Incidental Mutation 'R8221:Acly'
| ID |
636711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acly
|
| Ensembl Gene |
ENSMUSG00000020917 |
| Gene Name |
ATP citrate lyase |
| Synonyms |
A730098H14Rik |
| MMRRC Submission |
067639-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8221 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100367179-100418826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100410576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 134
(F134S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007131]
[ENSMUST00000107385]
[ENSMUST00000107389]
[ENSMUST00000165111]
|
| AlphaFold |
Q91V92 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007131
AA Change: F134S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917
AA Change: F134S
| 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: ENSMUST00000107385
AA Change: F134S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103008
Gene: ENSMUSG00000020917
AA Change: F134S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-grasp_2
|
6 |
207 |
2.1e-6 |
PFAM |
|
SCOP:d1eucb1
|
255 |
417 |
1e-26 |
SMART |
|
low complexity region
|
441 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107389
AA Change: F134S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917
AA Change: F134S
| 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: F134S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917
AA Change: F134S
| 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: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (74/74) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,257,262 (GRCm39) |
|
probably null |
Het |
| Adam29 |
G |
T |
8: 56,325,463 (GRCm39) |
N330K |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,677,033 (GRCm39) |
S1933P |
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,902,824 (GRCm39) |
H785R |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,800 (GRCm39) |
L3028* |
probably null |
Het |
| Ajuba |
T |
C |
14: 54,807,847 (GRCm39) |
T462A |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,534,016 (GRCm39) |
N289S |
possibly damaging |
Het |
| Ankrd46 |
A |
T |
15: 36,486,001 (GRCm39) |
L84Q |
probably damaging |
Het |
| Ankrd54 |
T |
G |
15: 78,940,270 (GRCm39) |
D163A |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,282,064 (GRCm39) |
L10P |
probably benign |
Het |
| Atm |
A |
T |
9: 53,367,288 (GRCm39) |
|
probably null |
Het |
| Azin1 |
G |
C |
15: 38,492,572 (GRCm39) |
F312L |
probably damaging |
Het |
| C2cd4c |
A |
G |
10: 79,448,482 (GRCm39) |
S222P |
probably damaging |
Het |
| Cdyl |
A |
G |
13: 36,000,147 (GRCm39) |
T143A |
probably benign |
Het |
| Clhc1 |
G |
A |
11: 29,503,751 (GRCm39) |
V56I |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,486,471 (GRCm39) |
S300P |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,551,224 (GRCm39) |
Y2131H |
probably damaging |
Het |
| Cyp3a41b |
A |
G |
5: 145,506,190 (GRCm39) |
S287P |
probably benign |
Het |
| Dctn4 |
A |
G |
18: 60,689,401 (GRCm39) |
D424G |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,546,847 (GRCm39) |
T284A |
probably benign |
Het |
| E330034G19Rik |
A |
C |
14: 24,346,135 (GRCm39) |
|
probably null |
Het |
| Ehhadh |
G |
A |
16: 21,581,373 (GRCm39) |
P540S |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,297,111 (GRCm39) |
E24G |
probably damaging |
Het |
| F930015N05Rik |
A |
C |
11: 64,326,418 (GRCm39) |
L74W |
unknown |
Het |
| Fat1 |
A |
G |
8: 45,406,390 (GRCm39) |
D1047G |
|
Het |
| Galnt7 |
A |
G |
8: 58,005,600 (GRCm39) |
V211A |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,109,611 (GRCm39) |
C543R |
unknown |
Het |
| Ghr |
A |
C |
15: 3,362,901 (GRCm39) |
D190E |
probably benign |
Het |
| Glrx |
A |
G |
13: 75,995,346 (GRCm39) |
M89V |
probably benign |
Het |
| Gm10323 |
A |
C |
13: 67,000,859 (GRCm39) |
Y91* |
noncoding transcript |
Het |
| Gnb4 |
A |
T |
3: 32,644,184 (GRCm39) |
D153E |
possibly damaging |
Het |
| Gnptab |
G |
T |
10: 88,276,254 (GRCm39) |
|
probably null |
Het |
| Grip2 |
T |
C |
6: 91,762,665 (GRCm39) |
D193G |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,347,038 (GRCm39) |
W658R |
probably damaging |
Het |
| Ip6k1 |
T |
A |
9: 107,923,115 (GRCm39) |
F416I |
probably benign |
Het |
| Klhl1 |
T |
G |
14: 96,517,546 (GRCm39) |
T377P |
possibly damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Lrrfip1 |
T |
C |
1: 91,042,878 (GRCm39) |
S428P |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,416,893 (GRCm39) |
D754G |
probably benign |
Het |
| Mrgprx2 |
T |
A |
7: 48,132,527 (GRCm39) |
Y97F |
probably benign |
Het |
| Msantd2 |
T |
G |
9: 37,400,684 (GRCm39) |
V22G |
probably damaging |
Het |
| Myl6b |
T |
C |
10: 128,333,209 (GRCm39) |
K11R |
unknown |
Het |
| Nab2 |
C |
A |
10: 127,498,645 (GRCm39) |
V475L |
probably benign |
Het |
| Npas1 |
T |
C |
7: 16,189,890 (GRCm39) |
E552G |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,821,040 (GRCm39) |
N274S |
possibly damaging |
Het |
| Pmepa1 |
A |
T |
2: 173,069,700 (GRCm39) |
L247Q |
probably damaging |
Het |
| Poll |
T |
C |
19: 45,542,047 (GRCm39) |
K420E |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,628,344 (GRCm39) |
V1283A |
probably benign |
Het |
| Ppil4 |
A |
T |
10: 7,671,444 (GRCm39) |
Y36F |
probably benign |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Psd2 |
C |
T |
18: 36,113,478 (GRCm39) |
R317W |
probably damaging |
Het |
| Pspc1 |
T |
A |
14: 57,015,616 (GRCm39) |
M1L |
probably benign |
Het |
| Qrsl1 |
A |
T |
10: 43,758,080 (GRCm39) |
F338I |
possibly damaging |
Het |
| Rcor3 |
A |
G |
1: 191,814,749 (GRCm39) |
Y77H |
unknown |
Het |
| Sbno2 |
G |
A |
10: 79,905,845 (GRCm39) |
P157L |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,446,829 (GRCm39) |
V1400I |
probably damaging |
Het |
| Setd3 |
C |
G |
12: 108,073,612 (GRCm39) |
G555A |
possibly damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,678,601 (GRCm39) |
M245K |
probably benign |
Het |
| Slc1a5 |
T |
A |
7: 16,515,902 (GRCm39) |
L26Q |
probably benign |
Het |
| Slc38a3 |
T |
G |
9: 107,534,908 (GRCm39) |
M156L |
probably damaging |
Het |
| Slc45a2 |
A |
T |
15: 11,001,233 (GRCm39) |
I111F |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,528,810 (GRCm39) |
M491K |
probably benign |
Het |
| Son |
A |
G |
16: 91,453,734 (GRCm39) |
D827G |
probably damaging |
Het |
| Sppl2c |
A |
T |
11: 104,077,710 (GRCm39) |
H170L |
probably damaging |
Het |
| St6gal2 |
T |
A |
17: 55,797,935 (GRCm39) |
|
probably null |
Het |
| Taf4b |
T |
A |
18: 15,031,106 (GRCm39) |
L830H |
probably damaging |
Het |
| Tex22 |
A |
G |
12: 113,038,696 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
C |
T |
17: 3,568,860 (GRCm39) |
R1669C |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,821,223 (GRCm39) |
N506I |
probably damaging |
Het |
| Topors |
A |
T |
4: 40,260,686 (GRCm39) |
I866K |
unknown |
Het |
| Trip12 |
G |
T |
1: 84,743,771 (GRCm39) |
T512K |
possibly damaging |
Het |
| Ubr1 |
T |
A |
2: 120,791,585 (GRCm39) |
H133L |
probably damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,366,441 (GRCm39) |
D422G |
probably damaging |
Het |
| Zfp689 |
A |
C |
7: 127,043,758 (GRCm39) |
C291G |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,576,877 (GRCm39) |
L68P |
possibly damaging |
Het |
| Zswim5 |
G |
T |
4: 116,735,219 (GRCm39) |
R188L |
probably benign |
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 |
|
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'- CCGTGTCACACTGGACTTCTTG -3'
(R):5'- ACAGATCTCCTTGGGGTGAATG -3'
Sequencing Primer
(F):5'- GTCCCCATTTGTGCCCACG -3'
(R):5'- ATCTCCTTGGGGTGAATGCTTTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation