Incidental Mutation 'R8894:Acly'
| ID |
677904 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acly
|
| Ensembl Gene |
ENSMUSG00000020917 |
| Gene Name |
ATP citrate lyase |
| Synonyms |
A730098H14Rik |
| MMRRC Submission |
068697-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8894 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100367179-100418826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100407639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 237
(E237G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007131]
[ENSMUST00000107385]
[ENSMUST00000107389]
[ENSMUST00000165111]
|
| AlphaFold |
Q91V92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007131
AA Change: E237G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917
AA Change: E237G
| 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 |
possibly damaging
Transcript: ENSMUST00000107385
AA Change: E237G
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103008
Gene: ENSMUSG00000020917
AA Change: E237G
| 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 benign
Transcript: ENSMUST00000107389
AA Change: E237G
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917
AA Change: E237G
| 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
AA Change: E237G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917
AA Change: E237G
| 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 |
98% (63/64) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
T |
9: 46,216,397 (GRCm39) |
V291M |
probably benign |
Het |
| Abca14 |
A |
C |
7: 119,847,368 (GRCm39) |
Y744S |
probably damaging |
Het |
| Adcy1 |
T |
A |
11: 7,087,375 (GRCm39) |
D416E |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,377,668 (GRCm39) |
M1217K |
probably damaging |
Het |
| Atad2b |
T |
C |
12: 5,064,001 (GRCm39) |
|
probably null |
Het |
| Ccdc177 |
A |
G |
12: 80,806,077 (GRCm39) |
S66P |
probably damaging |
Het |
| Clpsl2 |
T |
C |
17: 28,769,645 (GRCm39) |
C36R |
possibly damaging |
Het |
| Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,175,750 (GRCm39) |
L744F |
possibly damaging |
Het |
| Crybg3 |
T |
A |
16: 59,342,552 (GRCm39) |
E980D |
probably damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,274,671 (GRCm39) |
V302E |
probably benign |
Het |
| Cyp3a25 |
A |
C |
5: 145,931,670 (GRCm39) |
|
probably benign |
Het |
| Dhx35 |
G |
C |
2: 158,676,795 (GRCm39) |
A410P |
possibly damaging |
Het |
| Dlg2 |
A |
T |
7: 91,614,946 (GRCm39) |
H295L |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,383,048 (GRCm39) |
M1172L |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,860,373 (GRCm39) |
S850G |
probably benign |
Het |
| Dst |
A |
T |
1: 34,213,214 (GRCm39) |
M1369L |
possibly damaging |
Het |
| Fcrl6 |
T |
C |
1: 172,426,856 (GRCm39) |
N30S |
probably benign |
Het |
| Fibp |
A |
T |
19: 5,513,309 (GRCm39) |
Q208L |
probably benign |
Het |
| Foxc1 |
T |
G |
13: 31,992,205 (GRCm39) |
S339A |
unknown |
Het |
| Fras1 |
T |
C |
5: 96,907,402 (GRCm39) |
C3196R |
probably damaging |
Het |
| Galnt7 |
C |
T |
8: 57,979,176 (GRCm39) |
W649* |
probably null |
Het |
| H2-M10.2 |
T |
C |
17: 36,595,555 (GRCm39) |
N245S |
possibly damaging |
Het |
| Hapln3 |
G |
A |
7: 78,767,239 (GRCm39) |
R267W |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,244,400 (GRCm39) |
I229V |
probably damaging |
Het |
| Kank1 |
G |
A |
19: 25,408,378 (GRCm39) |
G1286R |
probably damaging |
Het |
| Krba1 |
A |
G |
6: 48,388,629 (GRCm39) |
I543V |
probably damaging |
Het |
| Lipn |
A |
T |
19: 34,062,248 (GRCm39) |
*401L |
probably null |
Het |
| Lrrc37a |
T |
C |
11: 103,347,449 (GRCm39) |
N3082S |
unknown |
Het |
| Magi1 |
A |
T |
6: 93,663,586 (GRCm39) |
F1117Y |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 65,020,596 (GRCm39) |
K791E |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mpp4 |
A |
G |
1: 59,197,743 (GRCm39) |
|
probably null |
Het |
| Muc2 |
T |
G |
7: 141,280,758 (GRCm39) |
C371W |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,380,036 (GRCm39) |
N779K |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,336,619 (GRCm39) |
L1066P |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,467,951 (GRCm39) |
L302P |
probably damaging |
Het |
| Nudt21 |
C |
A |
8: 94,755,498 (GRCm39) |
G146W |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,082,940 (GRCm39) |
I132K |
probably damaging |
Het |
| Or10g1 |
A |
T |
14: 52,647,465 (GRCm39) |
L288Q |
probably damaging |
Het |
| Or4c11c |
T |
G |
2: 88,661,809 (GRCm39) |
M116R |
probably benign |
Het |
| Or8c13 |
A |
T |
9: 38,091,370 (GRCm39) |
F250I |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,571,273 (GRCm39) |
|
probably benign |
Het |
| Plcd3 |
T |
A |
11: 102,962,592 (GRCm39) |
N620Y |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,925,206 (GRCm39) |
|
probably benign |
Het |
| Pramel41 |
T |
G |
5: 94,596,399 (GRCm39) |
C479G |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,034,620 (GRCm39) |
*711Q |
probably null |
Het |
| Psap |
T |
A |
10: 60,135,736 (GRCm39) |
V394E |
possibly damaging |
Het |
| Ptprr |
T |
A |
10: 115,884,250 (GRCm39) |
D102E |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,698,119 (GRCm39) |
|
probably null |
Het |
| Rimbp2 |
T |
A |
5: 128,850,454 (GRCm39) |
D943V |
possibly damaging |
Het |
| Rsrc2 |
G |
T |
5: 123,878,793 (GRCm39) |
R113S |
unknown |
Het |
| Sim1 |
T |
A |
10: 50,786,626 (GRCm39) |
V286E |
possibly damaging |
Het |
| Slc35d1 |
A |
T |
4: 103,068,529 (GRCm39) |
F124L |
|
Het |
| Sort1 |
T |
C |
3: 108,246,228 (GRCm39) |
F402L |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,853,688 (GRCm39) |
C47R |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,744,091 (GRCm39) |
E664V |
probably damaging |
Het |
| Tmppe |
A |
T |
9: 114,230,260 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 145,001,038 (GRCm39) |
D356G |
possibly damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,725,212 (GRCm39) |
E1839G |
unknown |
Het |
| Trgv4 |
T |
C |
13: 19,369,627 (GRCm39) |
S124P |
probably damaging |
Het |
| Trim17 |
T |
A |
11: 58,859,536 (GRCm39) |
M250K |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,218,807 (GRCm39) |
L315F |
probably damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,746 (GRCm39) |
S247P |
probably benign |
Het |
| Vmn2r33 |
T |
A |
7: 7,566,809 (GRCm39) |
Y101F |
probably benign |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,197 (GRCm39) |
D388G |
|
Het |
| Wdr36 |
C |
T |
18: 32,970,340 (GRCm39) |
|
probably benign |
Het |
| Zfp2 |
T |
A |
11: 50,791,843 (GRCm39) |
I67F |
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 |
|
|
R8861:Acly
|
UTSW |
11 |
100,375,424 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- AAACTTGGCTGATTTCCACCC -3'
(R):5'- ACTGTGTCTCCATAAGGGCTG -3'
Sequencing Primer
(F):5'- CCAACCTCACTGGGGTTTTAAG -3'
(R):5'- TGTGAGAGTGCACCTGGC -3'
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| Posted On |
2021-08-02 |
Incidental Mutation