Incidental Mutation 'R1775:Acaca'
ID |
204348 |
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 |
039806-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1775 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
84020498-84292477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84191248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 155
(D155G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020843]
[ENSMUST00000103201]
[ENSMUST00000183887]
|
AlphaFold |
Q5SWU9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020843
AA Change: D1334G
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000020843 Gene: ENSMUSG00000020532 AA Change: D1334G
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: D1334G
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000099490 Gene: ENSMUSG00000020532 AA Change: D1334G
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183887
AA Change: D155G
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000139378 Gene: ENSMUSG00000020532 AA Change: D155G
Domain | Start | End | E-Value | Type |
Pfam:ACC_central
|
1 |
228 |
8.6e-57 |
PFAM |
|
Meta Mutation Damage Score |
0.1242 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 92.9%
|
Validation Efficiency |
98% (95/97) |
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: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J04Rik |
A |
G |
12: 11,272,143 (GRCm39) |
S20P |
unknown |
Het |
4921528I07Rik |
G |
A |
9: 114,108,386 (GRCm39) |
|
noncoding transcript |
Het |
4930562C15Rik |
G |
A |
16: 4,669,422 (GRCm39) |
|
probably null |
Het |
4933427I04Rik |
A |
G |
4: 123,754,286 (GRCm39) |
T67A |
possibly damaging |
Het |
Abcc2 |
A |
T |
19: 43,786,858 (GRCm39) |
N160Y |
possibly damaging |
Het |
Afg3l1 |
G |
A |
8: 124,219,639 (GRCm39) |
R389Q |
possibly damaging |
Het |
Ank2 |
G |
A |
3: 126,728,196 (GRCm39) |
T799M |
probably benign |
Het |
Anxa2 |
T |
C |
9: 69,395,363 (GRCm39) |
Y202H |
possibly damaging |
Het |
Arhgef33 |
A |
G |
17: 80,681,172 (GRCm39) |
T771A |
probably benign |
Het |
Atp12a |
T |
C |
14: 56,610,046 (GRCm39) |
V182A |
probably benign |
Het |
Birc6 |
T |
C |
17: 74,919,281 (GRCm39) |
L210S |
probably damaging |
Het |
Car3 |
A |
G |
3: 14,929,492 (GRCm39) |
T73A |
probably benign |
Het |
Cd5l |
T |
C |
3: 87,275,966 (GRCm39) |
L312P |
probably damaging |
Het |
Celf5 |
A |
G |
10: 81,303,138 (GRCm39) |
|
probably benign |
Het |
Cep290 |
T |
A |
10: 100,332,672 (GRCm39) |
V257E |
probably damaging |
Het |
Cntrob |
T |
C |
11: 69,211,693 (GRCm39) |
D177G |
possibly damaging |
Het |
Copg2 |
A |
T |
6: 30,787,271 (GRCm39) |
F658I |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,763,135 (GRCm39) |
T1234A |
probably damaging |
Het |
Dhx35 |
A |
G |
2: 158,648,357 (GRCm39) |
T72A |
probably damaging |
Het |
Dmrtc2 |
A |
T |
7: 24,573,792 (GRCm39) |
H209L |
possibly damaging |
Het |
Eml5 |
G |
T |
12: 98,818,963 (GRCm39) |
|
probably null |
Het |
Evpl |
T |
C |
11: 116,114,486 (GRCm39) |
E1068G |
possibly damaging |
Het |
Ezh2 |
A |
G |
6: 47,553,594 (GRCm39) |
M41T |
probably damaging |
Het |
Fmo3 |
A |
G |
1: 162,796,294 (GRCm39) |
S93P |
possibly damaging |
Het |
Gdi2 |
A |
G |
13: 3,610,018 (GRCm39) |
Y213C |
possibly damaging |
Het |
Gpr15 |
A |
T |
16: 58,538,921 (GRCm39) |
I56K |
probably benign |
Het |
Gria2 |
G |
T |
3: 80,598,645 (GRCm39) |
S796R |
probably benign |
Het |
Hectd4 |
T |
A |
5: 121,429,254 (GRCm39) |
|
probably benign |
Het |
Hgfac |
T |
C |
5: 35,200,194 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,247,467 (GRCm39) |
R1200W |
probably damaging |
Het |
Ift52 |
G |
A |
2: 162,867,275 (GRCm39) |
D78N |
possibly damaging |
Het |
Iqca1 |
C |
A |
1: 90,009,138 (GRCm39) |
W415L |
probably damaging |
Het |
Ism1 |
A |
T |
2: 139,587,963 (GRCm39) |
K236N |
probably damaging |
Het |
Itgb6 |
C |
T |
2: 60,502,988 (GRCm39) |
W43* |
probably null |
Het |
Kcnk18 |
T |
A |
19: 59,223,773 (GRCm39) |
I306N |
probably damaging |
Het |
Kctd8 |
T |
C |
5: 69,497,903 (GRCm39) |
K248E |
probably damaging |
Het |
Layn |
T |
A |
9: 50,970,833 (GRCm39) |
I237F |
probably benign |
Het |
Lce3f |
C |
T |
3: 92,900,248 (GRCm39) |
P23L |
unknown |
Het |
Lct |
A |
G |
1: 128,228,038 (GRCm39) |
F1152L |
probably damaging |
Het |
Mettl25b |
A |
G |
3: 87,831,124 (GRCm39) |
S404P |
probably damaging |
Het |
Mxra8 |
T |
C |
4: 155,927,531 (GRCm39) |
I413T |
probably damaging |
Het |
Nedd9 |
A |
G |
13: 41,471,438 (GRCm39) |
V187A |
probably benign |
Het |
Net1 |
A |
G |
13: 3,937,642 (GRCm39) |
L207P |
probably damaging |
Het |
Neurod1 |
G |
T |
2: 79,284,781 (GRCm39) |
P201T |
probably benign |
Het |
Nlrp1b |
A |
G |
11: 71,052,647 (GRCm39) |
F927S |
probably damaging |
Het |
Ntrk3 |
T |
A |
7: 78,005,789 (GRCm39) |
H524L |
possibly damaging |
Het |
Nup98 |
A |
C |
7: 101,784,144 (GRCm39) |
S1063A |
probably benign |
Het |
Or10ak11 |
T |
A |
4: 118,687,065 (GRCm39) |
M191L |
probably benign |
Het |
Or11h4b |
G |
T |
14: 50,918,623 (GRCm39) |
P156Q |
possibly damaging |
Het |
Or56b1 |
G |
A |
7: 104,285,366 (GRCm39) |
V162I |
probably benign |
Het |
Or5b97 |
C |
A |
19: 12,878,599 (GRCm39) |
V182F |
probably benign |
Het |
Or5m9b |
G |
A |
2: 85,905,104 (GRCm39) |
V7I |
possibly damaging |
Het |
Or6d15 |
T |
C |
6: 116,559,925 (GRCm39) |
|
probably benign |
Het |
Pdzd2 |
G |
A |
15: 12,592,546 (GRCm39) |
R33W |
probably damaging |
Het |
Phf21a |
G |
A |
2: 92,160,860 (GRCm39) |
V243I |
probably damaging |
Het |
Ppp1r12b |
A |
G |
1: 134,821,086 (GRCm39) |
|
probably null |
Het |
Rexo5 |
T |
C |
7: 119,444,634 (GRCm39) |
V703A |
probably benign |
Het |
Rgs4 |
A |
G |
1: 169,572,847 (GRCm39) |
S30P |
probably benign |
Het |
Rxra |
C |
A |
2: 27,646,256 (GRCm39) |
D340E |
probably damaging |
Het |
Samhd1 |
A |
G |
2: 156,949,467 (GRCm39) |
V473A |
probably benign |
Het |
Scn3a |
T |
A |
2: 65,302,686 (GRCm39) |
K1253N |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,511,299 (GRCm39) |
N1207S |
probably benign |
Het |
Sec24d |
T |
A |
3: 123,130,166 (GRCm39) |
I443N |
probably damaging |
Het |
Sema4g |
T |
A |
19: 44,987,681 (GRCm39) |
|
probably null |
Het |
Sema5b |
A |
G |
16: 35,480,694 (GRCm39) |
K787R |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,817,217 (GRCm39) |
N104D |
probably benign |
Het |
Sfn |
T |
C |
4: 133,328,542 (GRCm39) |
H180R |
probably damaging |
Het |
Slc22a6 |
G |
T |
19: 8,596,471 (GRCm39) |
|
probably null |
Het |
Slc9a8 |
T |
C |
2: 167,299,278 (GRCm39) |
S217P |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,359,270 (GRCm39) |
N965D |
probably benign |
Het |
Sod2 |
T |
A |
17: 13,233,919 (GRCm39) |
I177N |
probably damaging |
Het |
Sp4 |
A |
T |
12: 118,263,335 (GRCm39) |
I237K |
probably damaging |
Het |
Sulf2 |
T |
C |
2: 165,921,532 (GRCm39) |
K697R |
probably benign |
Het |
Svs4 |
A |
T |
2: 164,119,005 (GRCm39) |
D110E |
unknown |
Het |
Tas1r1 |
T |
A |
4: 152,122,675 (GRCm39) |
R57* |
probably null |
Het |
Tlr5 |
T |
C |
1: 182,801,287 (GRCm39) |
I197T |
probably damaging |
Het |
Tmc3 |
T |
C |
7: 83,261,740 (GRCm39) |
V606A |
probably benign |
Het |
Tmem241 |
T |
A |
18: 12,251,469 (GRCm39) |
L37F |
probably damaging |
Het |
Tmem59l |
A |
T |
8: 70,938,903 (GRCm39) |
N90K |
probably damaging |
Het |
Tram1 |
A |
C |
1: 13,646,680 (GRCm39) |
|
probably benign |
Het |
Trim15 |
T |
A |
17: 37,176,061 (GRCm39) |
H162L |
probably benign |
Het |
Ttc28 |
T |
A |
5: 111,424,677 (GRCm39) |
Y1501N |
probably benign |
Het |
Ttc34 |
T |
C |
4: 154,946,671 (GRCm39) |
V857A |
probably benign |
Het |
Tulp4 |
A |
G |
17: 6,189,321 (GRCm39) |
T48A |
probably damaging |
Het |
Usp9y |
T |
C |
Y: 1,368,089 (GRCm39) |
E939G |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,606,670 (GRCm39) |
I1634T |
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,387,378 (GRCm39) |
M729V |
probably benign |
Het |
Vps13c |
C |
T |
9: 67,788,729 (GRCm39) |
T334M |
probably damaging |
Het |
Wnk4 |
C |
G |
11: 101,167,166 (GRCm39) |
|
probably benign |
Het |
Xpo1 |
A |
G |
11: 23,221,193 (GRCm39) |
N97D |
probably benign |
Het |
Xpo4 |
A |
T |
14: 57,841,129 (GRCm39) |
F518Y |
probably benign |
Het |
Zfp668 |
C |
T |
7: 127,465,778 (GRCm39) |
V469I |
possibly damaging |
Het |
Zfp85 |
C |
A |
13: 67,897,823 (GRCm39) |
C83F |
probably damaging |
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 |
|
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 |
R7453:Acaca
|
UTSW |
11 |
84,136,136 (GRCm39) |
missense |
probably benign |
|
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'- GTTGCACAAAAGGTATTGACACATG -3'
(R):5'- AAACTCATGCCCGTACGTTAG -3'
Sequencing Primer
(F):5'- TGTTCCCATCGCAATCTTAAAG -3'
(R):5'- CCCGTACGTTAGAGGGTTGAC -3'
|
Posted On |
2014-06-23 |