Incidental Mutation 'R4707:Acaca'
ID |
355355 |
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 |
041955-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4707 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
84020498-84292477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84203680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1477
(V1477A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099490
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020843]
[ENSMUST00000103201]
[ENSMUST00000183887]
|
AlphaFold |
Q5SWU9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020843
AA Change: V1477A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020843 Gene: ENSMUSG00000020532 AA Change: V1477A
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 damaging
Transcript: ENSMUST00000103201
AA Change: V1477A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099490 Gene: ENSMUSG00000020532 AA Change: V1477A
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 |
probably benign
Transcript: ENSMUST00000183887
|
SMART Domains |
Protein: ENSMUSP00000139378 Gene: ENSMUSG00000020532
Domain | Start | End | E-Value | Type |
Pfam:ACC_central
|
1 |
228 |
8.6e-57 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
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: 115 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
A |
G |
17: 9,224,544 (GRCm39) |
K450R |
probably damaging |
Het |
Abcd2 |
T |
C |
15: 91,043,385 (GRCm39) |
D601G |
probably benign |
Het |
Abcf3 |
A |
G |
16: 20,367,808 (GRCm39) |
K56E |
possibly damaging |
Het |
Adamts20 |
G |
A |
15: 94,231,528 (GRCm39) |
P887L |
possibly damaging |
Het |
Ahnak |
T |
G |
19: 8,994,099 (GRCm39) |
S5128A |
probably benign |
Het |
Ahsa2 |
C |
A |
11: 23,443,162 (GRCm39) |
V197F |
probably benign |
Het |
Ak9 |
C |
A |
10: 41,221,456 (GRCm39) |
H402N |
probably benign |
Het |
Alpk1 |
G |
T |
3: 127,481,241 (GRCm39) |
N175K |
possibly damaging |
Het |
Als2 |
A |
G |
1: 59,254,472 (GRCm39) |
V295A |
probably benign |
Het |
Ankrd16 |
A |
G |
2: 11,783,608 (GRCm39) |
D70G |
probably damaging |
Het |
Apob |
A |
T |
12: 8,056,205 (GRCm39) |
K1562N |
probably damaging |
Het |
Arfgap2 |
C |
A |
2: 91,100,316 (GRCm39) |
S250R |
probably damaging |
Het |
Arhgef10l |
C |
T |
4: 140,264,194 (GRCm39) |
M671I |
possibly damaging |
Het |
Atrnl1 |
A |
G |
19: 57,617,590 (GRCm39) |
I122V |
probably damaging |
Het |
B4galnt2 |
C |
T |
11: 95,766,923 (GRCm39) |
|
probably null |
Het |
C8a |
A |
G |
4: 104,713,618 (GRCm39) |
Y171H |
probably damaging |
Het |
Cacnb4 |
A |
G |
2: 52,364,927 (GRCm39) |
V112A |
probably benign |
Het |
Capn9 |
G |
T |
8: 125,340,195 (GRCm39) |
C566F |
possibly damaging |
Het |
Ccdc88a |
T |
A |
11: 29,397,956 (GRCm39) |
S230T |
probably benign |
Het |
Cd300c2 |
A |
T |
11: 114,887,811 (GRCm39) |
F197Y |
probably benign |
Het |
Chd5 |
A |
G |
4: 152,445,039 (GRCm39) |
Y340C |
probably damaging |
Het |
Chrd |
A |
T |
16: 20,557,558 (GRCm39) |
I726F |
possibly damaging |
Het |
Chrna10 |
G |
A |
7: 101,762,426 (GRCm39) |
P255S |
possibly damaging |
Het |
Clasp1 |
T |
A |
1: 118,470,927 (GRCm39) |
Y197* |
probably null |
Het |
Cyp2c69 |
C |
G |
19: 39,837,852 (GRCm39) |
G410A |
probably benign |
Het |
Cyp2e1 |
G |
A |
7: 140,343,821 (GRCm39) |
V20I |
possibly damaging |
Het |
Dapp1 |
T |
C |
3: 137,638,928 (GRCm39) |
D225G |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,372,521 (GRCm39) |
D2924V |
probably damaging |
Het |
Efcab12 |
A |
T |
6: 115,791,510 (GRCm39) |
L554Q |
possibly damaging |
Het |
Emsy |
T |
C |
7: 98,246,311 (GRCm39) |
T228A |
possibly damaging |
Het |
Evc2 |
G |
A |
5: 37,579,204 (GRCm39) |
V1106I |
probably benign |
Het |
Exoc8 |
G |
T |
8: 125,624,209 (GRCm39) |
Q53K |
possibly damaging |
Het |
Fbn2 |
A |
T |
18: 58,189,344 (GRCm39) |
V1594D |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,887,543 (GRCm39) |
Y551C |
possibly damaging |
Het |
Fhip1a |
G |
T |
3: 85,595,877 (GRCm39) |
T115K |
probably damaging |
Het |
Fmnl3 |
A |
G |
15: 99,221,362 (GRCm39) |
M481T |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,883,097 (GRCm39) |
N2543S |
probably damaging |
Het |
Fsd2 |
T |
C |
7: 81,209,428 (GRCm39) |
D138G |
probably damaging |
Het |
Gda |
C |
T |
19: 21,405,992 (GRCm39) |
V5I |
probably benign |
Het |
Glt8d2 |
A |
T |
10: 82,496,583 (GRCm39) |
D158E |
probably damaging |
Het |
Gpx6 |
C |
T |
13: 21,496,434 (GRCm39) |
Q3* |
probably null |
Het |
Greb1l |
A |
G |
18: 10,532,922 (GRCm39) |
M830V |
probably benign |
Het |
Hnrnpul1 |
A |
C |
7: 25,426,258 (GRCm39) |
V531G |
probably damaging |
Het |
Ifi206 |
A |
T |
1: 173,308,432 (GRCm39) |
H521Q |
probably benign |
Het |
Igsf3 |
G |
C |
3: 101,365,410 (GRCm39) |
R1127P |
probably benign |
Het |
Il1rl1 |
A |
G |
1: 40,489,348 (GRCm39) |
R367G |
probably damaging |
Het |
Islr |
T |
C |
9: 58,064,970 (GRCm39) |
D179G |
possibly damaging |
Het |
Jcad |
G |
T |
18: 4,649,338 (GRCm39) |
E70* |
probably null |
Het |
Kcnd2 |
T |
C |
6: 21,723,211 (GRCm39) |
I467T |
probably benign |
Het |
Lrrc27 |
A |
G |
7: 138,822,614 (GRCm39) |
T502A |
probably benign |
Het |
Lrrtm3 |
T |
A |
10: 63,923,781 (GRCm39) |
H462L |
probably benign |
Het |
Mbd5 |
T |
C |
2: 49,140,168 (GRCm39) |
L44S |
probably damaging |
Het |
Mccc1 |
C |
A |
3: 36,030,022 (GRCm39) |
M429I |
probably damaging |
Het |
Mgam |
A |
T |
6: 40,691,566 (GRCm39) |
|
probably null |
Het |
Mipep |
T |
A |
14: 61,109,552 (GRCm39) |
I643N |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,965,457 (GRCm39) |
I1162L |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mug1 |
G |
A |
6: 121,861,600 (GRCm39) |
C1354Y |
probably damaging |
Het |
Nbeal2 |
A |
T |
9: 110,461,123 (GRCm39) |
S1647T |
probably benign |
Het |
Ndufaf2 |
C |
G |
13: 108,189,314 (GRCm39) |
A145P |
probably damaging |
Het |
Nedd9 |
A |
T |
13: 41,492,051 (GRCm39) |
|
probably null |
Het |
Nr4a2 |
T |
A |
2: 57,002,105 (GRCm39) |
H116L |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,951,665 (GRCm39) |
Y232C |
probably damaging |
Het |
Odf4 |
A |
G |
11: 68,817,514 (GRCm39) |
L58P |
probably damaging |
Het |
Or2a20 |
T |
A |
6: 43,193,883 (GRCm39) |
V12D |
probably benign |
Het |
Or4a27 |
T |
A |
2: 88,559,056 (GRCm39) |
M296L |
possibly damaging |
Het |
Or4c116 |
A |
T |
2: 88,942,576 (GRCm39) |
F93L |
probably damaging |
Het |
Or4g17 |
T |
A |
2: 111,209,990 (GRCm39) |
L215H |
probably damaging |
Het |
Or7e165 |
C |
T |
9: 19,694,596 (GRCm39) |
H18Y |
probably damaging |
Het |
Or8g24 |
A |
G |
9: 38,989,558 (GRCm39) |
V161A |
probably benign |
Het |
Or8s5 |
G |
T |
15: 98,238,659 (GRCm39) |
H70Q |
possibly damaging |
Het |
Orc6 |
T |
A |
8: 86,029,579 (GRCm39) |
I41K |
probably damaging |
Het |
Pikfyve |
A |
G |
1: 65,307,005 (GRCm39) |
T1798A |
probably benign |
Het |
Prdx6b |
T |
C |
2: 80,123,404 (GRCm39) |
L71P |
probably damaging |
Het |
Prmt2 |
A |
G |
10: 76,062,055 (GRCm39) |
I50T |
probably damaging |
Het |
Ptdss1 |
T |
C |
13: 67,143,482 (GRCm39) |
|
probably null |
Het |
Pygl |
T |
C |
12: 70,254,532 (GRCm39) |
T138A |
possibly damaging |
Het |
Rab3c |
T |
C |
13: 110,198,434 (GRCm39) |
E198G |
probably benign |
Het |
Rbl2 |
A |
G |
8: 91,812,196 (GRCm39) |
Y255C |
probably damaging |
Het |
Rev3l |
T |
A |
10: 39,699,393 (GRCm39) |
S1297T |
probably damaging |
Het |
Rgma |
C |
A |
7: 73,067,564 (GRCm39) |
T367K |
probably damaging |
Het |
Rps6ka5 |
C |
T |
12: 100,564,144 (GRCm39) |
|
probably null |
Het |
Rslcan18 |
A |
T |
13: 67,246,590 (GRCm39) |
C217S |
probably damaging |
Het |
Rtp3 |
A |
G |
9: 110,815,279 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,745,087 (GRCm39) |
N3848K |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,381,779 (GRCm39) |
T923S |
probably benign |
Het |
Serpinb6d |
A |
T |
13: 33,855,336 (GRCm39) |
T337S |
possibly damaging |
Het |
Sf3b1 |
G |
A |
1: 55,029,666 (GRCm39) |
T1112M |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Sidt1 |
A |
T |
16: 44,090,221 (GRCm39) |
Y369* |
probably null |
Het |
Slc16a6 |
A |
G |
11: 109,354,193 (GRCm39) |
S59P |
probably benign |
Het |
Slc25a17 |
A |
C |
15: 81,211,527 (GRCm39) |
L163W |
probably damaging |
Het |
Slc44a3 |
T |
C |
3: 121,320,723 (GRCm39) |
T93A |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,087,197 (GRCm39) |
T1081A |
possibly damaging |
Het |
Sptbn4 |
T |
C |
7: 27,116,431 (GRCm39) |
D456G |
probably benign |
Het |
Sycp1 |
C |
A |
3: 102,760,805 (GRCm39) |
A703S |
possibly damaging |
Het |
Tas2r118 |
T |
A |
6: 23,969,225 (GRCm39) |
M279L |
probably benign |
Het |
Tc2n |
T |
G |
12: 101,660,832 (GRCm39) |
Q133H |
probably benign |
Het |
Tctn1 |
A |
G |
5: 122,399,468 (GRCm39) |
|
probably null |
Het |
Tenm4 |
A |
C |
7: 96,423,253 (GRCm39) |
K683Q |
probably damaging |
Het |
Tex10 |
A |
T |
4: 48,468,984 (GRCm39) |
S64T |
probably benign |
Het |
Tex15 |
A |
G |
8: 34,072,525 (GRCm39) |
T2691A |
probably benign |
Het |
Tmem175 |
A |
T |
5: 108,790,016 (GRCm39) |
T123S |
probably damaging |
Het |
Tsc1 |
C |
A |
2: 28,562,419 (GRCm39) |
S348R |
probably damaging |
Het |
Ttll4 |
A |
T |
1: 74,718,166 (GRCm39) |
T6S |
possibly damaging |
Het |
Ttll8 |
A |
T |
15: 88,801,293 (GRCm39) |
I465N |
probably damaging |
Het |
Ubr3 |
A |
G |
2: 69,768,714 (GRCm39) |
|
probably benign |
Het |
Ugdh |
A |
T |
5: 65,580,695 (GRCm39) |
|
probably null |
Het |
Usp34 |
T |
C |
11: 23,437,215 (GRCm39) |
L3326S |
probably damaging |
Het |
Vmn2r125 |
A |
T |
4: 156,702,276 (GRCm39) |
I21F |
probably damaging |
Het |
Vps9d1 |
G |
A |
8: 123,975,351 (GRCm39) |
|
probably benign |
Het |
Xab2 |
G |
A |
8: 3,668,117 (GRCm39) |
R154C |
possibly damaging |
Het |
Zbtb12 |
T |
C |
17: 35,114,475 (GRCm39) |
S87P |
probably damaging |
Het |
Zc3h12a |
A |
G |
4: 125,014,686 (GRCm39) |
M266T |
probably damaging |
Het |
Zfp108 |
G |
A |
7: 23,959,837 (GRCm39) |
A143T |
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 |
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'- TGCACATACACATATGCATGC -3'
(R):5'- AGTAGCACTCCACCTTCAGTTTTAAC -3'
Sequencing Primer
(F):5'- TAACAGATGCTGGGTTCCAC -3'
(R):5'- TCCACCTTCAGTTTTAACTATCTTTG -3'
|
Posted On |
2015-10-21 |