Incidental Mutation 'R8407:Acly'
| ID |
652487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acly
|
| Ensembl Gene |
ENSMUSG00000020917 |
| Gene Name |
ATP citrate lyase |
| Synonyms |
A730098H14Rik |
| MMRRC Submission |
067814-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100367179-100418826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100384897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 629
(I629V)
|
| 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: I619V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917
AA Change: I619V
| 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: I629V
PolyPhen 2
Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917
AA Change: I629V
| 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: I619V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917
AA Change: I619V
| 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: 99.1%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
| Arhgef12 |
C |
T |
9: 42,937,475 (GRCm39) |
|
probably null |
Het |
| BC048562 |
T |
A |
9: 108,315,631 (GRCm39) |
S12R |
possibly damaging |
Het |
| Calhm2 |
G |
A |
19: 47,098,755 (GRCm39) |
Q310* |
probably null |
Het |
| Celsr3 |
A |
G |
9: 108,706,256 (GRCm39) |
E913G |
probably damaging |
Het |
| Cep68 |
T |
C |
11: 20,190,446 (GRCm39) |
S189G |
possibly damaging |
Het |
| Cilp |
C |
A |
9: 65,181,898 (GRCm39) |
P336T |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,033,154 (GRCm39) |
S288P |
probably benign |
Het |
| Cst13 |
T |
C |
2: 148,665,124 (GRCm39) |
S40P |
probably damaging |
Het |
| Cyp4f37 |
A |
T |
17: 32,853,158 (GRCm39) |
D374V |
probably damaging |
Het |
| Ddit3 |
A |
G |
10: 127,131,318 (GRCm39) |
T37A |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,350,104 (GRCm39) |
N2343S |
probably benign |
Het |
| Emp3 |
G |
A |
7: 45,569,445 (GRCm39) |
P32L |
probably damaging |
Het |
| Esyt1 |
G |
T |
10: 128,347,796 (GRCm39) |
L965M |
probably damaging |
Het |
| Fbxw28 |
T |
A |
9: 109,155,269 (GRCm39) |
I406L |
probably benign |
Het |
| Fgf10 |
A |
G |
13: 118,851,938 (GRCm39) |
T7A |
possibly damaging |
Het |
| Frs3 |
A |
T |
17: 48,009,552 (GRCm39) |
D11V |
probably damaging |
Het |
| Glmn |
A |
G |
5: 107,718,057 (GRCm39) |
S287P |
probably benign |
Het |
| Glyctk |
C |
T |
9: 106,033,141 (GRCm39) |
A291T |
probably benign |
Het |
| H2bc12 |
G |
T |
13: 22,220,217 (GRCm39) |
G54V |
probably damaging |
Het |
| Ibtk |
A |
T |
9: 85,603,119 (GRCm39) |
F629I |
possibly damaging |
Het |
| Kcnh8 |
C |
A |
17: 53,212,101 (GRCm39) |
A633E |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,488 (GRCm39) |
N929S |
probably benign |
Het |
| Ldlrap1 |
T |
C |
4: 134,484,736 (GRCm39) |
K86R |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,763 (GRCm39) |
K206R |
probably benign |
Het |
| Lmod1 |
C |
A |
1: 135,292,734 (GRCm39) |
P530T |
possibly damaging |
Het |
| Lnp1 |
A |
T |
16: 56,748,251 (GRCm39) |
S14T |
probably benign |
Het |
| Map3k6 |
T |
A |
4: 132,974,904 (GRCm39) |
Y646N |
possibly damaging |
Het |
| Mapk14 |
G |
A |
17: 28,963,983 (GRCm39) |
V290I |
probably benign |
Het |
| Mrpl22 |
C |
A |
11: 58,066,156 (GRCm39) |
Y83* |
probably null |
Het |
| Myh6 |
T |
C |
14: 55,201,388 (GRCm39) |
N104D |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,554,683 (GRCm39) |
M903L |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,094,047 (GRCm39) |
Q763* |
probably null |
Het |
| Or5w19 |
A |
C |
2: 87,698,437 (GRCm39) |
Y34S |
probably damaging |
Het |
| Plin1 |
T |
C |
7: 79,373,051 (GRCm39) |
D306G |
probably benign |
Het |
| Ppp1r12a |
T |
A |
10: 108,076,042 (GRCm39) |
|
probably null |
Het |
| Prelid1 |
T |
A |
13: 55,470,672 (GRCm39) |
H33Q |
probably damaging |
Het |
| Prkcz |
C |
T |
4: 155,352,673 (GRCm39) |
A485T |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,662,057 (GRCm39) |
E1169G |
probably null |
Het |
| Rps19 |
C |
A |
7: 24,588,517 (GRCm39) |
T181K |
unknown |
Het |
| Skic2 |
G |
A |
17: 35,060,103 (GRCm39) |
A889V |
probably benign |
Het |
| Slc22a3 |
A |
C |
17: 12,640,368 (GRCm39) |
C538G |
probably benign |
Het |
| Slc2a10 |
T |
A |
2: 165,356,787 (GRCm39) |
F149Y |
possibly damaging |
Het |
| Smarcal1 |
A |
G |
1: 72,640,554 (GRCm39) |
I516M |
probably benign |
Het |
| Smarcc2 |
T |
A |
10: 128,318,190 (GRCm39) |
W601R |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
A |
G |
11: 116,143,589 (GRCm39) |
S369P |
probably benign |
Het |
| Tex2 |
C |
T |
11: 106,459,221 (GRCm39) |
E70K |
probably damaging |
Het |
| Ticam2 |
A |
G |
18: 46,693,590 (GRCm39) |
S166P |
probably damaging |
Het |
| Trpv5 |
A |
G |
6: 41,652,272 (GRCm39) |
S138P |
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,798,741 (GRCm39) |
V665I |
probably benign |
Het |
| Vmn2r81 |
T |
C |
10: 79,104,028 (GRCm39) |
L217P |
possibly damaging |
Het |
| Zbtb4 |
T |
C |
11: 69,669,101 (GRCm39) |
V608A |
probably benign |
Het |
| Zfp957 |
A |
G |
14: 79,451,352 (GRCm39) |
V149A |
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 |
|
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'- AGATTCCCAGCTCCTACCTG -3'
(R):5'- AAGAGGTTCTTCATGGGCAGG -3'
Sequencing Primer
(F):5'- TACCTGTCCCCGCCGATG -3'
(R):5'- TACATCTTTAGGAGCCAGCG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation