Incidental Mutation 'R7453:Acaca'
ID |
577919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acaca
|
Ensembl Gene |
ENSMUSG00000020532 |
Gene Name |
acetyl-Coenzyme A carboxylase alpha |
Synonyms |
Acc1, LOC327983, Acac, acetyl-CoA carboxylase, A530025K05Rik |
MMRRC Submission |
045527-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7453 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
84020498-84292477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84136136 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 497
(V497A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020843
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020843]
[ENSMUST00000103201]
|
AlphaFold |
Q5SWU9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020843
AA Change: V497A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020843 Gene: ENSMUSG00000020532 AA Change: V497A
Domain | Start | End | E-Value | Type |
Pfam:CPSase_L_chain
|
116 |
236 |
4.7e-33 |
PFAM |
Pfam:CPSase_L_D2
|
272 |
472 |
2.5e-55 |
PFAM |
Pfam:ATP-grasp
|
280 |
443 |
4.3e-7 |
PFAM |
Pfam:ATP-grasp_4
|
282 |
442 |
1.9e-11 |
PFAM |
Pfam:Dala_Dala_lig_C
|
284 |
440 |
5.4e-7 |
PFAM |
Biotin_carb_C
|
506 |
613 |
3.76e-24 |
SMART |
low complexity region
|
708 |
725 |
N/A |
INTRINSIC |
Pfam:Biotin_lipoyl
|
751 |
817 |
9.8e-19 |
PFAM |
Pfam:ACC_central
|
818 |
1568 |
2.1e-288 |
PFAM |
Pfam:Carboxyl_trans
|
1668 |
2222 |
1.6e-185 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103201
AA Change: V497A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099490 Gene: ENSMUSG00000020532 AA Change: V497A
Domain | Start | End | E-Value | Type |
Pfam:CPSase_L_chain
|
116 |
236 |
6.7e-29 |
PFAM |
Pfam:ATP-grasp_4
|
239 |
442 |
2e-15 |
PFAM |
Pfam:CPSase_L_D2
|
272 |
472 |
3.3e-55 |
PFAM |
Pfam:Dala_Dala_lig_C
|
279 |
440 |
3e-7 |
PFAM |
Pfam:ATP-grasp
|
281 |
442 |
1.1e-6 |
PFAM |
Biotin_carb_C
|
506 |
613 |
3.76e-24 |
SMART |
low complexity region
|
708 |
725 |
N/A |
INTRINSIC |
Pfam:Biotin_lipoyl
|
751 |
817 |
3.7e-18 |
PFAM |
Pfam:ACC_central
|
818 |
1568 |
3.5e-253 |
PFAM |
Pfam:Carboxyl_trans
|
1668 |
2222 |
2.7e-175 |
PFAM |
|
Meta Mutation Damage Score |
0.0699 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (122/122) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice display embryonic lethality before embryo turning with growth arrest at the egg cylinder stage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 120 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430550D23Rik |
A |
G |
2: 155,845,309 (GRCm39) |
S32P |
possibly damaging |
Het |
Acox1 |
T |
C |
11: 116,071,787 (GRCm39) |
T214A |
probably benign |
Het |
Adgrb2 |
G |
A |
4: 129,908,430 (GRCm39) |
|
probably null |
Het |
Adh1 |
G |
A |
3: 137,995,702 (GRCm39) |
|
probably null |
Het |
Angptl1 |
G |
T |
1: 156,672,421 (GRCm39) |
M82I |
probably benign |
Het |
Arg1 |
A |
G |
10: 24,791,674 (GRCm39) |
L269P |
probably damaging |
Het |
Arid2 |
T |
G |
15: 96,268,605 (GRCm39) |
V906G |
probably benign |
Het |
Arid5b |
A |
T |
10: 68,078,994 (GRCm39) |
H114Q |
probably benign |
Het |
Atad5 |
T |
C |
11: 80,009,969 (GRCm39) |
|
probably null |
Het |
AU040320 |
G |
A |
4: 126,729,493 (GRCm39) |
|
probably null |
Het |
B230104I21Rik |
A |
T |
4: 154,432,185 (GRCm39) |
T44S |
unknown |
Het |
BC024063 |
G |
A |
10: 81,945,991 (GRCm39) |
R537H |
possibly damaging |
Het |
Bfsp2 |
A |
T |
9: 103,330,306 (GRCm39) |
L177Q |
probably damaging |
Het |
Birc5 |
C |
A |
11: 117,743,507 (GRCm39) |
H80Q |
probably damaging |
Het |
Bpifb9a |
T |
C |
2: 154,106,615 (GRCm39) |
L382P |
probably damaging |
Het |
Ces2c |
A |
T |
8: 105,576,302 (GRCm39) |
N105I |
probably benign |
Het |
Cfap91 |
A |
G |
16: 38,141,841 (GRCm39) |
S364P |
possibly damaging |
Het |
Cflar |
G |
A |
1: 58,792,956 (GRCm39) |
V441M |
|
Het |
Ckap4 |
A |
G |
10: 84,364,463 (GRCm39) |
V200A |
probably damaging |
Het |
Clec16a |
C |
A |
16: 10,462,686 (GRCm39) |
T668N |
probably damaging |
Het |
Cntrl |
A |
C |
2: 35,045,421 (GRCm39) |
E1376D |
possibly damaging |
Het |
Col18a1 |
A |
T |
10: 76,921,044 (GRCm39) |
|
probably null |
Het |
Coq2 |
T |
C |
5: 100,811,452 (GRCm39) |
Y179C |
probably benign |
Het |
Cpne6 |
A |
G |
14: 55,749,473 (GRCm39) |
E11G |
probably benign |
Het |
Cr2 |
A |
C |
1: 194,847,565 (GRCm39) |
|
probably null |
Het |
Csf2rb2 |
C |
T |
15: 78,169,491 (GRCm39) |
D555N |
probably benign |
Het |
Cyp2j12 |
A |
T |
4: 95,990,363 (GRCm39) |
V401D |
possibly damaging |
Het |
Dbp |
C |
T |
7: 45,355,127 (GRCm39) |
A27V |
probably benign |
Het |
Dll1 |
C |
A |
17: 15,595,151 (GRCm39) |
R42L |
probably benign |
Het |
Dst |
C |
A |
1: 34,230,439 (GRCm39) |
H2677Q |
possibly damaging |
Het |
Efl1 |
G |
T |
7: 82,330,675 (GRCm39) |
V283F |
possibly damaging |
Het |
Enah |
C |
T |
1: 181,789,470 (GRCm39) |
C7Y |
unknown |
Het |
Fam193a |
A |
T |
5: 34,621,460 (GRCm39) |
E1139V |
possibly damaging |
Het |
Fbn1 |
G |
A |
2: 125,162,879 (GRCm39) |
P2136S |
possibly damaging |
Het |
Fggy |
T |
C |
4: 95,485,927 (GRCm39) |
V91A |
probably damaging |
Het |
Fn1 |
T |
A |
1: 71,630,039 (GRCm39) |
D2343V |
probably damaging |
Het |
Galk2 |
T |
C |
2: 125,729,781 (GRCm39) |
V54A |
possibly damaging |
Het |
Glb1l |
T |
A |
1: 75,179,350 (GRCm39) |
Y193F |
probably damaging |
Het |
Gm45861 |
G |
T |
8: 28,031,686 (GRCm39) |
R867L |
unknown |
Het |
Grin2b |
T |
C |
6: 135,717,947 (GRCm39) |
D715G |
possibly damaging |
Het |
Hltf |
A |
T |
3: 20,136,916 (GRCm39) |
R384S |
possibly damaging |
Het |
Hs3st1 |
A |
G |
5: 39,772,310 (GRCm39) |
M111T |
probably damaging |
Het |
Idua |
A |
G |
5: 108,829,362 (GRCm39) |
T388A |
probably benign |
Het |
Kat14 |
T |
C |
2: 144,222,654 (GRCm39) |
S136P |
possibly damaging |
Het |
Kif24 |
A |
C |
4: 41,394,673 (GRCm39) |
C867W |
possibly damaging |
Het |
Klhdc10 |
T |
A |
6: 30,447,989 (GRCm39) |
|
probably null |
Het |
Klra10 |
A |
G |
6: 130,257,327 (GRCm39) |
V59A |
probably damaging |
Het |
Limk1 |
T |
A |
5: 134,698,091 (GRCm39) |
I223F |
probably damaging |
Het |
Lrp10 |
G |
A |
14: 54,705,913 (GRCm39) |
G368S |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,891,046 (GRCm39) |
R374G |
probably benign |
Het |
Lypd1 |
T |
A |
1: 125,801,303 (GRCm39) |
M66L |
probably benign |
Het |
Mast4 |
C |
T |
13: 102,941,149 (GRCm39) |
|
probably null |
Het |
Mbp |
C |
T |
18: 82,572,768 (GRCm39) |
H155Y |
probably damaging |
Het |
Micu3 |
G |
A |
8: 40,788,939 (GRCm39) |
C150Y |
probably benign |
Het |
Mras |
C |
T |
9: 99,271,793 (GRCm39) |
V174I |
probably benign |
Het |
Mroh1 |
T |
A |
15: 76,317,745 (GRCm39) |
I827N |
probably damaging |
Het |
Ms4a12 |
C |
A |
19: 11,203,026 (GRCm39) |
G101* |
probably null |
Het |
Mylk2 |
A |
T |
2: 152,754,353 (GRCm39) |
K149M |
probably damaging |
Het |
Myom3 |
T |
A |
4: 135,528,346 (GRCm39) |
L1064I |
probably damaging |
Het |
Naa30 |
A |
G |
14: 49,425,144 (GRCm39) |
*365W |
probably null |
Het |
Ncoa1 |
C |
T |
12: 4,309,307 (GRCm39) |
G1330R |
probably damaging |
Het |
Nhlh1 |
T |
A |
1: 171,881,846 (GRCm39) |
T7S |
probably benign |
Het |
Nipsnap3a |
A |
G |
4: 52,995,882 (GRCm39) |
Q110R |
probably benign |
Het |
Nostrin |
T |
C |
2: 69,014,240 (GRCm39) |
Y399H |
possibly damaging |
Het |
Nsfl1c |
C |
A |
2: 151,351,431 (GRCm39) |
T263K |
possibly damaging |
Het |
Nup153 |
T |
C |
13: 46,834,657 (GRCm39) |
T1456A |
probably damaging |
Het |
Or14j10 |
G |
T |
17: 37,935,276 (GRCm39) |
D83E |
probably benign |
Het |
Or1o2 |
T |
C |
17: 37,542,871 (GRCm39) |
Y130C |
probably damaging |
Het |
Or51e1 |
T |
A |
7: 102,358,724 (GRCm39) |
I86N |
probably damaging |
Het |
Or52z1 |
T |
A |
7: 103,436,879 (GRCm39) |
I202F |
possibly damaging |
Het |
Or5g26 |
T |
A |
2: 85,494,524 (GRCm39) |
M85L |
probably benign |
Het |
Or8d1b |
A |
T |
9: 38,887,500 (GRCm39) |
H176L |
probably damaging |
Het |
Pan3 |
G |
A |
5: 147,463,491 (GRCm39) |
|
probably null |
Het |
Pcdhgb2 |
C |
T |
18: 37,824,068 (GRCm39) |
T353I |
probably damaging |
Het |
Pcif1 |
A |
T |
2: 164,730,284 (GRCm39) |
H339L |
probably damaging |
Het |
Pcif1 |
A |
G |
2: 164,731,550 (GRCm39) |
H501R |
possibly damaging |
Het |
Pcnt |
T |
C |
10: 76,225,284 (GRCm39) |
H1740R |
probably benign |
Het |
Polr1b |
T |
A |
2: 128,967,583 (GRCm39) |
I992N |
probably damaging |
Het |
Ppfia2 |
C |
T |
10: 106,763,691 (GRCm39) |
T1228M |
possibly damaging |
Het |
Ppp2r5e |
A |
G |
12: 75,509,116 (GRCm39) |
F388L |
probably damaging |
Het |
Ptpre |
G |
T |
7: 135,139,803 (GRCm39) |
R4L |
unknown |
Het |
Pzp |
G |
T |
6: 128,463,879 (GRCm39) |
P1410T |
probably damaging |
Het |
Qrich1 |
A |
C |
9: 108,433,675 (GRCm39) |
K656T |
possibly damaging |
Het |
Rabep1 |
C |
T |
11: 70,808,486 (GRCm39) |
P481S |
probably damaging |
Het |
Rgs9 |
T |
A |
11: 109,118,094 (GRCm39) |
R579W |
probably damaging |
Het |
Rhot1 |
T |
C |
11: 80,139,366 (GRCm39) |
|
probably null |
Het |
Rnf123 |
T |
A |
9: 107,947,607 (GRCm39) |
|
probably null |
Het |
Rreb1 |
T |
G |
13: 38,125,545 (GRCm39) |
C1284G |
probably damaging |
Het |
Rsph4a |
A |
G |
10: 33,785,289 (GRCm39) |
E400G |
probably benign |
Het |
Rufy4 |
T |
A |
1: 74,168,493 (GRCm39) |
|
probably null |
Het |
S100pbp |
A |
G |
4: 129,075,878 (GRCm39) |
L149P |
probably damaging |
Het |
Sall3 |
T |
C |
18: 81,015,255 (GRCm39) |
D891G |
probably benign |
Het |
Scn10a |
C |
T |
9: 119,467,618 (GRCm39) |
V841I |
probably benign |
Het |
Scn5a |
T |
A |
9: 119,351,656 (GRCm39) |
Y775F |
possibly damaging |
Het |
Sec62 |
A |
T |
3: 30,863,945 (GRCm39) |
|
probably null |
Het |
Slc24a1 |
A |
T |
9: 64,856,583 (GRCm39) |
M108K |
unknown |
Het |
Spata22 |
T |
A |
11: 73,226,816 (GRCm39) |
|
probably null |
Het |
Spmap2l |
A |
G |
5: 77,208,633 (GRCm39) |
H387R |
probably damaging |
Het |
Stk4 |
A |
G |
2: 163,928,522 (GRCm39) |
N118S |
probably benign |
Het |
Stt3a |
A |
T |
9: 36,659,266 (GRCm39) |
S358T |
possibly damaging |
Het |
Tbc1d31 |
T |
A |
15: 57,814,391 (GRCm39) |
F531I |
probably damaging |
Het |
Tfrc |
A |
G |
16: 32,437,867 (GRCm39) |
T307A |
probably damaging |
Het |
Tnpo2 |
T |
C |
8: 85,781,651 (GRCm39) |
I811T |
probably damaging |
Het |
Ttc23l |
T |
C |
15: 10,533,853 (GRCm39) |
Y230C |
probably damaging |
Het |
Ttll13 |
A |
G |
7: 79,910,182 (GRCm39) |
D775G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,775,273 (GRCm39) |
K1969R |
unknown |
Het |
Ube2s |
G |
A |
7: 4,813,435 (GRCm39) |
R110* |
probably null |
Het |
Ubxn11 |
G |
A |
4: 133,853,540 (GRCm39) |
R364Q |
probably benign |
Het |
Unc13d |
T |
C |
11: 115,958,697 (GRCm39) |
Q773R |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,285,308 (GRCm39) |
V1948A |
probably damaging |
Het |
Vmn1r205 |
A |
T |
13: 22,776,931 (GRCm39) |
I57N |
probably damaging |
Het |
Vmn2r69 |
GAAAA |
GAAAAA |
7: 85,060,768 (GRCm39) |
|
probably null |
Het |
Vmn2r71 |
A |
T |
7: 85,273,297 (GRCm39) |
T704S |
probably benign |
Het |
Vmn2r93 |
T |
A |
17: 18,533,580 (GRCm39) |
S495T |
probably benign |
Het |
Wiz |
T |
A |
17: 32,598,049 (GRCm39) |
I102F |
probably benign |
Het |
Zan |
A |
C |
5: 137,464,264 (GRCm39) |
L514V |
probably damaging |
Het |
Zfp106 |
T |
A |
2: 120,341,008 (GRCm39) |
N1857I |
probably damaging |
Het |
Zfp106 |
A |
T |
2: 120,376,400 (GRCm39) |
|
probably null |
Het |
Zfp738 |
T |
C |
13: 67,818,474 (GRCm39) |
T506A |
probably benign |
Het |
Zfp934 |
T |
C |
13: 62,666,517 (GRCm39) |
N53S |
probably benign |
Het |
|
Other mutations in Acaca |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00544:Acaca
|
APN |
11 |
84,169,743 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01134:Acaca
|
APN |
11 |
84,142,105 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01446:Acaca
|
APN |
11 |
84,151,457 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01591:Acaca
|
APN |
11 |
84,134,146 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01663:Acaca
|
APN |
11 |
84,168,628 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01767:Acaca
|
APN |
11 |
84,211,368 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02206:Acaca
|
APN |
11 |
84,151,573 (GRCm39) |
nonsense |
probably null |
|
IGL02335:Acaca
|
APN |
11 |
84,105,084 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02477:Acaca
|
APN |
11 |
84,197,994 (GRCm39) |
splice site |
probably benign |
|
IGL02515:Acaca
|
APN |
11 |
84,153,229 (GRCm39) |
missense |
probably benign |
|
IGL02651:Acaca
|
APN |
11 |
84,136,030 (GRCm39) |
splice site |
probably benign |
|
IGL02805:Acaca
|
APN |
11 |
84,113,959 (GRCm39) |
splice site |
probably benign |
|
IGL03328:Acaca
|
APN |
11 |
84,211,355 (GRCm39) |
missense |
probably benign |
0.00 |
effervescence
|
UTSW |
11 |
84,153,300 (GRCm39) |
missense |
probably benign |
0.41 |
fizz
|
UTSW |
11 |
84,136,682 (GRCm39) |
missense |
probably damaging |
0.98 |
greenhouse
|
UTSW |
11 |
84,229,182 (GRCm39) |
missense |
probably damaging |
1.00 |
Serene
|
UTSW |
11 |
84,202,235 (GRCm39) |
splice site |
probably null |
|
Tranquil
|
UTSW |
11 |
84,171,287 (GRCm39) |
missense |
probably damaging |
1.00 |
vitamin
|
UTSW |
11 |
84,171,261 (GRCm39) |
missense |
possibly damaging |
0.78 |
ANU05:Acaca
|
UTSW |
11 |
84,206,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R0385:Acaca
|
UTSW |
11 |
84,122,574 (GRCm39) |
missense |
probably benign |
0.01 |
R0518:Acaca
|
UTSW |
11 |
84,181,112 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0536:Acaca
|
UTSW |
11 |
84,171,342 (GRCm39) |
splice site |
probably benign |
|
R0962:Acaca
|
UTSW |
11 |
84,202,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R0968:Acaca
|
UTSW |
11 |
84,129,859 (GRCm39) |
nonsense |
probably null |
|
R1123:Acaca
|
UTSW |
11 |
84,154,906 (GRCm39) |
missense |
probably benign |
0.09 |
R1452:Acaca
|
UTSW |
11 |
84,185,885 (GRCm39) |
splice site |
probably benign |
|
R1478:Acaca
|
UTSW |
11 |
84,263,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R1500:Acaca
|
UTSW |
11 |
84,184,810 (GRCm39) |
missense |
probably benign |
0.00 |
R1512:Acaca
|
UTSW |
11 |
84,086,295 (GRCm39) |
missense |
probably benign |
0.00 |
R1657:Acaca
|
UTSW |
11 |
84,154,910 (GRCm39) |
missense |
probably benign |
0.09 |
R1681:Acaca
|
UTSW |
11 |
84,117,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R1682:Acaca
|
UTSW |
11 |
84,283,043 (GRCm39) |
missense |
probably benign |
0.23 |
R1688:Acaca
|
UTSW |
11 |
84,129,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R1755:Acaca
|
UTSW |
11 |
84,167,390 (GRCm39) |
frame shift |
probably null |
|
R1775:Acaca
|
UTSW |
11 |
84,191,248 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1793:Acaca
|
UTSW |
11 |
84,229,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R1793:Acaca
|
UTSW |
11 |
84,206,795 (GRCm39) |
missense |
probably damaging |
0.98 |
R1855:Acaca
|
UTSW |
11 |
84,262,380 (GRCm39) |
missense |
probably damaging |
0.96 |
R1881:Acaca
|
UTSW |
11 |
84,191,297 (GRCm39) |
splice site |
probably benign |
|
R1881:Acaca
|
UTSW |
11 |
84,161,213 (GRCm39) |
nonsense |
probably null |
|
R1989:Acaca
|
UTSW |
11 |
84,153,355 (GRCm39) |
missense |
probably damaging |
0.98 |
R2147:Acaca
|
UTSW |
11 |
84,167,362 (GRCm39) |
missense |
probably benign |
0.03 |
R2215:Acaca
|
UTSW |
11 |
84,254,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R2238:Acaca
|
UTSW |
11 |
84,282,331 (GRCm39) |
splice site |
probably benign |
|
R2252:Acaca
|
UTSW |
11 |
84,262,358 (GRCm39) |
missense |
probably damaging |
0.99 |
R2316:Acaca
|
UTSW |
11 |
84,185,809 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2316:Acaca
|
UTSW |
11 |
84,154,906 (GRCm39) |
missense |
probably benign |
0.16 |
R2337:Acaca
|
UTSW |
11 |
84,148,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2697:Acaca
|
UTSW |
11 |
84,255,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R3551:Acaca
|
UTSW |
11 |
84,152,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R3552:Acaca
|
UTSW |
11 |
84,152,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R3748:Acaca
|
UTSW |
11 |
84,202,235 (GRCm39) |
splice site |
probably null |
|
R3844:Acaca
|
UTSW |
11 |
84,255,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R3873:Acaca
|
UTSW |
11 |
84,203,547 (GRCm39) |
unclassified |
probably benign |
|
R4152:Acaca
|
UTSW |
11 |
84,183,752 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4406:Acaca
|
UTSW |
11 |
84,171,275 (GRCm39) |
missense |
probably benign |
0.35 |
R4448:Acaca
|
UTSW |
11 |
84,153,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R4642:Acaca
|
UTSW |
11 |
84,171,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R4696:Acaca
|
UTSW |
11 |
84,171,261 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4707:Acaca
|
UTSW |
11 |
84,203,680 (GRCm39) |
missense |
probably damaging |
0.96 |
R4710:Acaca
|
UTSW |
11 |
84,283,163 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4775:Acaca
|
UTSW |
11 |
84,134,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R4821:Acaca
|
UTSW |
11 |
84,185,813 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4883:Acaca
|
UTSW |
11 |
84,142,116 (GRCm39) |
missense |
probably benign |
0.01 |
R4988:Acaca
|
UTSW |
11 |
84,154,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R5034:Acaca
|
UTSW |
11 |
84,136,090 (GRCm39) |
missense |
probably benign |
0.00 |
R5255:Acaca
|
UTSW |
11 |
84,202,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R5294:Acaca
|
UTSW |
11 |
84,282,345 (GRCm39) |
missense |
probably benign |
0.01 |
R5350:Acaca
|
UTSW |
11 |
84,106,699 (GRCm39) |
missense |
probably damaging |
0.99 |
R5437:Acaca
|
UTSW |
11 |
84,237,646 (GRCm39) |
splice site |
probably null |
|
R5664:Acaca
|
UTSW |
11 |
84,134,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R5665:Acaca
|
UTSW |
11 |
84,136,120 (GRCm39) |
nonsense |
probably null |
|
R5959:Acaca
|
UTSW |
11 |
84,106,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R6011:Acaca
|
UTSW |
11 |
84,136,570 (GRCm39) |
missense |
probably benign |
0.44 |
R6027:Acaca
|
UTSW |
11 |
84,289,003 (GRCm39) |
missense |
probably benign |
|
R6246:Acaca
|
UTSW |
11 |
84,206,796 (GRCm39) |
missense |
probably benign |
0.08 |
R6313:Acaca
|
UTSW |
11 |
84,183,755 (GRCm39) |
missense |
probably benign |
0.00 |
R6450:Acaca
|
UTSW |
11 |
84,171,294 (GRCm39) |
missense |
probably damaging |
0.98 |
R6623:Acaca
|
UTSW |
11 |
84,262,325 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6736:Acaca
|
UTSW |
11 |
84,129,664 (GRCm39) |
missense |
probably benign |
0.05 |
R6752:Acaca
|
UTSW |
11 |
84,086,309 (GRCm39) |
missense |
probably benign |
0.44 |
R6807:Acaca
|
UTSW |
11 |
84,282,356 (GRCm39) |
missense |
probably benign |
|
R6826:Acaca
|
UTSW |
11 |
84,086,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R7035:Acaca
|
UTSW |
11 |
84,129,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R7078:Acaca
|
UTSW |
11 |
84,154,138 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7088:Acaca
|
UTSW |
11 |
84,169,783 (GRCm39) |
critical splice donor site |
probably null |
|
R7201:Acaca
|
UTSW |
11 |
84,153,300 (GRCm39) |
missense |
probably benign |
0.41 |
R7261:Acaca
|
UTSW |
11 |
84,259,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R7399:Acaca
|
UTSW |
11 |
84,151,505 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7421:Acaca
|
UTSW |
11 |
84,254,562 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7443:Acaca
|
UTSW |
11 |
84,206,619 (GRCm39) |
missense |
probably benign |
0.02 |
R7471:Acaca
|
UTSW |
11 |
84,168,608 (GRCm39) |
splice site |
probably null |
|
R7519:Acaca
|
UTSW |
11 |
84,136,682 (GRCm39) |
missense |
probably damaging |
0.98 |
R7537:Acaca
|
UTSW |
11 |
84,151,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R7574:Acaca
|
UTSW |
11 |
84,152,414 (GRCm39) |
missense |
probably benign |
|
R7633:Acaca
|
UTSW |
11 |
84,263,465 (GRCm39) |
missense |
probably benign |
0.26 |
R7643:Acaca
|
UTSW |
11 |
84,229,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R7664:Acaca
|
UTSW |
11 |
84,136,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R7675:Acaca
|
UTSW |
11 |
84,206,742 (GRCm39) |
missense |
probably benign |
0.04 |
R7676:Acaca
|
UTSW |
11 |
84,185,813 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7729:Acaca
|
UTSW |
11 |
84,262,339 (GRCm39) |
missense |
probably damaging |
0.98 |
R7867:Acaca
|
UTSW |
11 |
84,140,350 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7898:Acaca
|
UTSW |
11 |
84,255,275 (GRCm39) |
critical splice donor site |
probably null |
|
R7909:Acaca
|
UTSW |
11 |
84,136,061 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7915:Acaca
|
UTSW |
11 |
84,167,414 (GRCm39) |
missense |
probably benign |
|
R7956:Acaca
|
UTSW |
11 |
84,211,406 (GRCm39) |
missense |
probably damaging |
0.98 |
R8000:Acaca
|
UTSW |
11 |
84,283,057 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8038:Acaca
|
UTSW |
11 |
84,106,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R8545:Acaca
|
UTSW |
11 |
84,236,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R8722:Acaca
|
UTSW |
11 |
84,229,283 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9005:Acaca
|
UTSW |
11 |
84,262,410 (GRCm39) |
missense |
probably damaging |
0.99 |
R9130:Acaca
|
UTSW |
11 |
84,202,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R9397:Acaca
|
UTSW |
11 |
84,259,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R9489:Acaca
|
UTSW |
11 |
84,183,842 (GRCm39) |
missense |
probably benign |
0.01 |
R9540:Acaca
|
UTSW |
11 |
84,134,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R9593:Acaca
|
UTSW |
11 |
84,271,339 (GRCm39) |
nonsense |
probably null |
|
R9605:Acaca
|
UTSW |
11 |
84,183,842 (GRCm39) |
missense |
probably benign |
0.01 |
R9634:Acaca
|
UTSW |
11 |
84,184,816 (GRCm39) |
missense |
probably benign |
0.00 |
R9720:Acaca
|
UTSW |
11 |
84,154,183 (GRCm39) |
missense |
probably damaging |
1.00 |
RF014:Acaca
|
UTSW |
11 |
84,122,550 (GRCm39) |
missense |
probably benign |
0.01 |
X0027:Acaca
|
UTSW |
11 |
84,183,721 (GRCm39) |
missense |
probably benign |
0.01 |
X0060:Acaca
|
UTSW |
11 |
84,154,930 (GRCm39) |
missense |
probably benign |
|
X0067:Acaca
|
UTSW |
11 |
84,259,563 (GRCm39) |
nonsense |
probably null |
|
Z1176:Acaca
|
UTSW |
11 |
84,151,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTATTTTGATAGCTCCCCTCTGTTAAG -3'
(R):5'- TCACGGATGCTTCCTGAGTG -3'
Sequencing Primer
(F):5'- CTTTCAGATTGCCATGGG -3'
(R):5'- GTGCAGCAACCATCATGTATCTG -3'
|
Posted On |
2019-10-07 |