Incidental Mutation 'R7148:Acly'
| ID |
553963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acly
|
| Ensembl Gene |
ENSMUSG00000020917 |
| Gene Name |
ATP citrate lyase |
| Synonyms |
A730098H14Rik |
| MMRRC Submission |
045225-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7148 (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 G
at 100374608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 805
(V805A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007131]
[ENSMUST00000107389]
[ENSMUST00000165111]
|
| AlphaFold |
Q91V92 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007131
AA Change: V795A
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917
AA Change: V795A
| 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: ENSMUST00000107389
AA Change: V805A
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917
AA Change: V805A
| 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: V795A
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917
AA Change: V795A
| 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: 99.2%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
T |
A |
14: 32,110,269 (GRCm39) |
Y14F |
probably damaging |
Het |
| Apcdd1 |
T |
C |
18: 63,084,916 (GRCm39) |
V371A |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,356,756 (GRCm39) |
F127I |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,374,102 (GRCm39) |
L374P |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,564,928 (GRCm39) |
Y504C |
probably damaging |
Het |
| Ces5a |
C |
T |
8: 94,228,950 (GRCm39) |
G427S |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,498,632 (GRCm39) |
V256M |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,668,464 (GRCm39) |
C573* |
probably null |
Het |
| Emcn |
A |
T |
3: 137,122,855 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Eva1a |
T |
G |
6: 82,048,125 (GRCm39) |
M1R |
probably null |
Het |
| Fam243 |
T |
C |
16: 92,117,875 (GRCm39) |
K138E |
probably benign |
Het |
| Fam83h |
C |
A |
15: 75,877,016 (GRCm39) |
D194Y |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,974,649 (GRCm39) |
K664E |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,544 (GRCm39) |
V447A |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,138,863 (GRCm39) |
D93G |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,562,605 (GRCm39) |
I2318V |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,901 (GRCm39) |
L258Q |
probably damaging |
Het |
| Itprid1 |
T |
C |
6: 55,874,671 (GRCm39) |
I207T |
probably damaging |
Het |
| Kmo |
T |
A |
1: 175,479,168 (GRCm39) |
C235S |
probably damaging |
Het |
| Lamc2 |
G |
A |
1: 153,061,730 (GRCm39) |
P2S |
probably benign |
Het |
| Lman2 |
G |
A |
13: 55,500,762 (GRCm39) |
P146S |
probably benign |
Het |
| Mars2 |
T |
C |
1: 55,276,673 (GRCm39) |
I92T |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,491,330 (GRCm39) |
F27L |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,134,577 (GRCm39) |
V460A |
possibly damaging |
Het |
| Nicn1 |
T |
A |
9: 108,172,306 (GRCm39) |
*214R |
probably null |
Het |
| Nsd2 |
T |
C |
5: 34,042,855 (GRCm39) |
F1040L |
possibly damaging |
Het |
| Or1ab2 |
T |
A |
8: 72,864,001 (GRCm39) |
I197N |
possibly damaging |
Het |
| Osm |
T |
A |
11: 4,189,936 (GRCm39) |
I240N |
probably benign |
Het |
| Pard3b |
T |
A |
1: 62,479,191 (GRCm39) |
D884E |
probably benign |
Het |
| Pex5 |
T |
G |
6: 124,382,231 (GRCm39) |
D150A |
probably benign |
Het |
| Pfkfb4 |
T |
C |
9: 108,856,676 (GRCm39) |
V394A |
probably damaging |
Het |
| Pjvk |
A |
G |
2: 76,488,831 (GRCm39) |
K334R |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,807,525 (GRCm39) |
D171G |
probably benign |
Het |
| Prpf4b |
T |
G |
13: 35,078,455 (GRCm39) |
N688K |
probably benign |
Het |
| R3hcc1 |
T |
C |
14: 69,943,001 (GRCm39) |
E192G |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,596,318 (GRCm39) |
G207* |
probably null |
Het |
| Rhobtb3 |
G |
T |
13: 76,059,006 (GRCm39) |
T264K |
probably benign |
Het |
| Rpl27 |
A |
G |
11: 101,333,232 (GRCm39) |
|
probably benign |
Het |
| Rxfp3 |
C |
T |
15: 11,036,863 (GRCm39) |
V170I |
possibly damaging |
Het |
| Samd4 |
T |
A |
14: 47,254,140 (GRCm39) |
S201R |
probably benign |
Het |
| Sell |
A |
G |
1: 163,893,176 (GRCm39) |
I131V |
possibly damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,887,996 (GRCm39) |
I32L |
probably benign |
Het |
| Sirpb1c |
A |
T |
3: 15,887,223 (GRCm39) |
Y205* |
probably null |
Het |
| Smc3 |
A |
T |
19: 53,630,326 (GRCm39) |
E1111V |
possibly damaging |
Het |
| Sowaha |
C |
A |
11: 53,370,182 (GRCm39) |
V185L |
probably benign |
Het |
| Spata4 |
A |
C |
8: 55,055,585 (GRCm39) |
I159L |
probably benign |
Het |
| Spring1 |
A |
G |
5: 118,393,759 (GRCm39) |
N46D |
probably benign |
Het |
| Tekt2 |
A |
G |
4: 126,216,174 (GRCm39) |
I373T |
probably benign |
Het |
| Tle7 |
G |
T |
8: 110,836,048 (GRCm39) |
R119I |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,164,313 (GRCm39) |
V65A |
probably benign |
Het |
| Trabd2b |
A |
G |
4: 114,266,547 (GRCm39) |
D187G |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,758,613 (GRCm39) |
I2147V |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,324,429 (GRCm39) |
C440* |
probably null |
Het |
| Ube3b |
A |
C |
5: 114,544,313 (GRCm39) |
N570T |
probably damaging |
Het |
| Uevld |
A |
G |
7: 46,600,724 (GRCm39) |
I70T |
probably damaging |
Het |
| Usp10 |
C |
T |
8: 120,663,289 (GRCm39) |
T37I |
possibly damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,689,981 (GRCm39) |
F286I |
probably benign |
Het |
| Vmn2r62 |
A |
G |
7: 42,414,640 (GRCm39) |
V601A |
probably benign |
Het |
| Wdr81 |
G |
C |
11: 75,336,828 (GRCm39) |
N401K |
|
Het |
| Ythdc2 |
G |
T |
18: 44,966,189 (GRCm39) |
V142F |
probably benign |
Het |
| Zfp346 |
T |
C |
13: 55,253,263 (GRCm39) |
F36S |
possibly damaging |
Het |
| Zfp748 |
C |
T |
13: 67,690,358 (GRCm39) |
V301M |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,681,220 (GRCm39) |
K148E |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAACTAAGAGCTAGGCATGG -3'
(R):5'- GACATCCTGGGCCATAGTTTG -3'
Sequencing Primer
(F):5'- GCAGCAGAGGCAGACAATCTC -3'
(R):5'- GACATCCTGGGCCATAGTTTGTTTTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation