Incidental Mutation 'R9171:Acly'
| ID |
696421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acly
|
| Ensembl Gene |
ENSMUSG00000020917 |
| Gene Name |
ATP citrate lyase |
| Synonyms |
A730098H14Rik |
| MMRRC Submission |
068976-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9171 (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 100407657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 231
(V231A)
|
| 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: V231A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917
AA Change: V231A
| 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 benign
Transcript: ENSMUST00000107385
AA Change: V231A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103008
Gene: ENSMUSG00000020917
AA Change: V231A
| 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: V231A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917
AA Change: V231A
| 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: V231A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917
AA Change: V231A
| 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 |
|
| Meta Mutation Damage Score |
0.0692 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
T |
A |
15: 41,732,512 (GRCm39) |
T185S |
possibly damaging |
Het |
| Acad10 |
T |
A |
5: 121,767,981 (GRCm39) |
H823L |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,849,381 (GRCm39) |
N1026S |
probably benign |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Ankrd65 |
A |
G |
4: 155,875,800 (GRCm39) |
E7G |
probably benign |
Het |
| Ap1g2 |
T |
C |
14: 55,336,581 (GRCm39) |
H771R |
probably benign |
Het |
| Atp9a |
A |
G |
2: 168,485,780 (GRCm39) |
|
probably null |
Het |
| Atxn10 |
T |
G |
15: 85,277,557 (GRCm39) |
H341Q |
probably damaging |
Het |
| Cacng1 |
A |
G |
11: 107,607,060 (GRCm39) |
L53P |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,161,810 (GRCm39) |
N2014S |
probably benign |
Het |
| Cma1 |
T |
C |
14: 56,181,189 (GRCm39) |
N72S |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,807,953 (GRCm39) |
G2551D |
unknown |
Het |
| Cyp20a1 |
T |
G |
1: 60,415,343 (GRCm39) |
L323R |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,894,918 (GRCm39) |
V3643E |
probably damaging |
Het |
| Dnmt3l |
A |
C |
10: 77,895,518 (GRCm39) |
D352A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,589,670 (GRCm39) |
N462K |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,513,794 (GRCm39) |
Q450R |
probably benign |
Het |
| Drgx |
C |
T |
14: 32,330,339 (GRCm39) |
S152F |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,800,708 (GRCm39) |
T2977A |
probably benign |
Het |
| Eid3 |
C |
T |
10: 82,703,316 (GRCm39) |
T259M |
probably damaging |
Het |
| Eif2ak3 |
T |
G |
6: 70,835,419 (GRCm39) |
D115E |
probably damaging |
Het |
| Ezh2 |
A |
C |
6: 47,531,134 (GRCm39) |
D183E |
probably benign |
Het |
| Fam114a1 |
A |
C |
5: 65,191,713 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
G |
A |
13: 98,891,607 (GRCm39) |
T385I |
probably benign |
Het |
| Gm6882 |
C |
A |
7: 21,161,254 (GRCm39) |
E205* |
probably null |
Het |
| Hexim2 |
G |
A |
11: 103,029,822 (GRCm39) |
W291* |
probably null |
Het |
| Hnrnpab |
A |
C |
11: 51,492,710 (GRCm39) |
S265R |
unknown |
Het |
| Hsd17b1 |
A |
G |
11: 100,969,832 (GRCm39) |
N115D |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,315,641 (GRCm39) |
D593G |
possibly damaging |
Het |
| Inf2 |
C |
A |
12: 112,567,965 (GRCm39) |
C172* |
probably null |
Het |
| Invs |
A |
T |
4: 48,398,149 (GRCm39) |
N445I |
possibly damaging |
Het |
| Izumo2 |
A |
G |
7: 44,369,184 (GRCm39) |
Q186R |
probably benign |
Het |
| Kcnj15 |
T |
C |
16: 95,097,481 (GRCm39) |
F368L |
probably benign |
Het |
| Kctd20 |
A |
G |
17: 29,185,866 (GRCm39) |
D403G |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,486,309 (GRCm39) |
V4748G |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,393,140 (GRCm39) |
S762P |
probably benign |
Het |
| Man2c1 |
C |
T |
9: 57,044,317 (GRCm39) |
Q324* |
probably null |
Het |
| Mgam |
A |
G |
6: 40,745,146 (GRCm39) |
I1804M |
possibly damaging |
Het |
| Mmp28 |
A |
G |
11: 83,335,661 (GRCm39) |
V279A |
probably benign |
Het |
| Mrpl22 |
T |
C |
11: 58,070,185 (GRCm39) |
V164A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,952,329 (GRCm39) |
H3913Q |
possibly damaging |
Het |
| Or6e1 |
T |
C |
14: 54,520,329 (GRCm39) |
T8A |
probably benign |
Het |
| Or8g50 |
C |
T |
9: 39,648,516 (GRCm39) |
T135I |
probably benign |
Het |
| Paqr6 |
A |
G |
3: 88,273,066 (GRCm39) |
T46A |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,178,550 (GRCm39) |
D1789G |
probably benign |
Het |
| Pou4f2 |
T |
C |
8: 79,162,748 (GRCm39) |
T96A |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,801,725 (GRCm39) |
V497E |
probably benign |
Het |
| Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
| Rsph4a |
C |
T |
10: 33,785,438 (GRCm39) |
Q450* |
probably null |
Het |
| Sh3d19 |
C |
T |
3: 85,990,918 (GRCm39) |
|
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,547,687 (GRCm39) |
T259A |
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,680,672 (GRCm39) |
T404A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,141,844 (GRCm39) |
C50S |
possibly damaging |
Het |
| Stx8 |
A |
C |
11: 67,875,471 (GRCm39) |
N99H |
possibly damaging |
Het |
| Tgfbi |
A |
T |
13: 56,773,526 (GRCm39) |
M175L |
probably damaging |
Het |
| Themis |
C |
A |
10: 28,658,233 (GRCm39) |
T420N |
probably benign |
Het |
| Tle1 |
A |
T |
4: 72,043,232 (GRCm39) |
C536S |
possibly damaging |
Het |
| Tprn |
A |
G |
2: 25,152,799 (GRCm39) |
S34G |
probably benign |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,124 (GRCm39) |
D78V |
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 |
|
|
R8894:Acly
|
UTSW |
11 |
100,407,639 (GRCm39) |
missense |
probably benign |
0.21 |
|
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'- CTTTCCTGCCAAATACAGAGCC -3'
(R):5'- GGGTAGACTGTGTCTCCATAAGG -3'
Sequencing Primer
(F):5'- CTGCCAAATACAGAGCCAAGAAGG -3'
(R):5'- ACTGTGTCTCCATAAGGGCTGTATTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation