Incidental Mutation 'R6077:Acly'
ID |
482806 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acly
|
Ensembl Gene |
ENSMUSG00000020917 |
Gene Name |
ATP citrate lyase |
Synonyms |
A730098H14Rik |
MMRRC Submission |
044238-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6077 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
100367179-100418826 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100410583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 132
(V132I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007131]
[ENSMUST00000107385]
[ENSMUST00000107389]
[ENSMUST00000165111]
|
AlphaFold |
Q91V92 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000007131
AA Change: V132I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000007131 Gene: ENSMUSG00000020917 AA Change: V132I
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: V132I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103008 Gene: ENSMUSG00000020917 AA Change: V132I
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: V132I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103012 Gene: ENSMUSG00000020917 AA Change: V132I
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: V132I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127632 Gene: ENSMUSG00000020917 AA Change: V132I
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: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
A |
T |
1: 25,133,081 (GRCm39) |
L1335* |
probably null |
Het |
Adgre5 |
A |
G |
8: 84,454,595 (GRCm39) |
S301P |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Aldh1b1 |
A |
G |
4: 45,802,525 (GRCm39) |
Y21C |
possibly damaging |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Ankrd7 |
T |
A |
6: 18,868,071 (GRCm39) |
S112R |
probably benign |
Het |
Arhgap23 |
T |
A |
11: 97,382,058 (GRCm39) |
|
probably null |
Het |
Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
C2cd4d |
A |
T |
3: 94,271,615 (GRCm39) |
R294W |
probably damaging |
Het |
Carns1 |
T |
C |
19: 4,220,875 (GRCm39) |
I352V |
probably benign |
Het |
Cdh17 |
T |
A |
4: 11,803,969 (GRCm39) |
S547R |
probably benign |
Het |
Cdyl2 |
G |
T |
8: 117,316,129 (GRCm39) |
N286K |
probably damaging |
Het |
Fam186a |
C |
A |
15: 99,840,584 (GRCm39) |
V1887L |
possibly damaging |
Het |
Fat4 |
C |
T |
3: 39,056,951 (GRCm39) |
R4216C |
probably damaging |
Het |
Fcamr |
T |
C |
1: 130,740,663 (GRCm39) |
W361R |
probably damaging |
Het |
Helz2 |
G |
A |
2: 180,874,831 (GRCm39) |
P1888S |
probably benign |
Het |
Itih1 |
A |
T |
14: 30,651,833 (GRCm39) |
F840L |
possibly damaging |
Het |
Kansl2 |
T |
C |
15: 98,429,312 (GRCm39) |
D146G |
probably benign |
Het |
Kcnk18 |
T |
C |
19: 59,223,746 (GRCm39) |
V297A |
probably damaging |
Het |
Kif1a |
T |
C |
1: 92,982,618 (GRCm39) |
T720A |
possibly damaging |
Het |
Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
Large2 |
C |
T |
2: 92,196,915 (GRCm39) |
R423K |
probably benign |
Het |
Lgals3bp |
A |
G |
11: 118,290,568 (GRCm39) |
V13A |
probably damaging |
Het |
Lrrd1 |
A |
G |
5: 3,900,837 (GRCm39) |
I381V |
probably benign |
Het |
Mastl |
A |
T |
2: 23,045,806 (GRCm39) |
I23N |
probably damaging |
Het |
Mettl23 |
T |
C |
11: 116,739,728 (GRCm39) |
V1A |
possibly damaging |
Het |
Mindy2 |
A |
G |
9: 70,538,363 (GRCm39) |
V324A |
probably damaging |
Het |
Mtmr4 |
T |
A |
11: 87,501,845 (GRCm39) |
L633Q |
probably damaging |
Het |
Myh1 |
G |
A |
11: 67,102,273 (GRCm39) |
E855K |
probably damaging |
Het |
Nin |
C |
T |
12: 70,066,006 (GRCm39) |
A2026T |
probably damaging |
Het |
Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
Or2w1 |
A |
T |
13: 21,317,463 (GRCm39) |
I173F |
probably benign |
Het |
Otulin |
T |
C |
15: 27,611,696 (GRCm39) |
T166A |
probably benign |
Het |
P2ry14 |
T |
A |
3: 59,022,798 (GRCm39) |
R230W |
probably damaging |
Het |
Pcsk4 |
T |
C |
10: 80,162,073 (GRCm39) |
E83G |
probably damaging |
Het |
Raet1e |
C |
A |
10: 22,057,887 (GRCm39) |
T218N |
possibly damaging |
Het |
Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
Safb |
G |
A |
17: 56,909,956 (GRCm39) |
|
probably benign |
Het |
Scn7a |
T |
A |
2: 66,527,940 (GRCm39) |
N850I |
probably damaging |
Het |
Slc16a4 |
A |
G |
3: 107,208,381 (GRCm39) |
D297G |
possibly damaging |
Het |
Tcf7l2 |
A |
T |
19: 55,905,868 (GRCm39) |
K278* |
probably null |
Het |
Tesmin |
T |
C |
19: 3,439,260 (GRCm39) |
V104A |
possibly damaging |
Het |
Tiam1 |
A |
G |
16: 89,594,918 (GRCm39) |
|
probably null |
Het |
Tmc4 |
T |
C |
7: 3,670,526 (GRCm39) |
T522A |
probably damaging |
Het |
Tmprss3 |
T |
A |
17: 31,408,141 (GRCm39) |
I274F |
possibly damaging |
Het |
Topbp1 |
A |
G |
9: 103,210,189 (GRCm39) |
K916E |
probably damaging |
Het |
Trdv1 |
A |
G |
14: 54,119,513 (GRCm39) |
D58G |
probably benign |
Het |
Ube2g2 |
G |
T |
10: 77,458,139 (GRCm39) |
|
probably benign |
Het |
Unc5d |
G |
T |
8: 29,165,335 (GRCm39) |
Q747K |
possibly damaging |
Het |
Xpo6 |
A |
G |
7: 125,709,124 (GRCm39) |
V819A |
possibly damaging |
Het |
Zan |
T |
A |
5: 137,412,559 (GRCm39) |
|
probably benign |
Het |
Zfp317 |
T |
A |
9: 19,558,184 (GRCm39) |
W133R |
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 |
|
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 |
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'- GTGTCACACTGGACTTCTTGTC -3'
(R):5'- ACACAGATCTCCTTGGGGTG -3'
Sequencing Primer
(F):5'- GTCCCCATTTGTGCCCACG -3'
(R):5'- ACAGATCTCCTTGGGGTGAATGC -3'
|
Posted On |
2017-07-14 |