Incidental Mutation 'R7574:Acaca'
| ID |
586254 |
| 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 |
045660-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7574 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
84020498-84292477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84152414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 854
(Y854N)
|
| 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: Y854N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: Y854N
| 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: Y854N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: Y854N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| 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: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,606,478 (GRCm39) |
V240A |
probably damaging |
Het |
| A930009A15Rik |
C |
T |
10: 115,406,019 (GRCm39) |
|
probably benign |
Het |
| Aarsd1 |
A |
G |
11: 101,301,970 (GRCm39) |
I201T |
probably damaging |
Het |
| Adra2c |
T |
C |
5: 35,437,759 (GRCm39) |
L177P |
probably damaging |
Het |
| Akr1c12 |
A |
T |
13: 4,329,309 (GRCm39) |
I16N |
probably damaging |
Het |
| Aldh8a1 |
A |
T |
10: 21,256,729 (GRCm39) |
I47F |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,886,879 (GRCm39) |
I736V |
probably benign |
Het |
| Bmp2 |
A |
T |
2: 133,402,817 (GRCm39) |
M123L |
probably benign |
Het |
| C1ql1 |
T |
C |
11: 102,836,812 (GRCm39) |
Y159C |
probably damaging |
Het |
| Ccdc148 |
T |
C |
2: 58,713,645 (GRCm39) |
Y502C |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,098,593 (GRCm39) |
V835E |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,390,864 (GRCm39) |
N989K |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,257,380 (GRCm39) |
M142V |
probably benign |
Het |
| Cnot4 |
T |
C |
6: 35,029,939 (GRCm39) |
R320G |
possibly damaging |
Het |
| Cyth1 |
G |
T |
11: 118,073,689 (GRCm39) |
H215N |
probably damaging |
Het |
| Dapk1 |
G |
A |
13: 60,908,987 (GRCm39) |
G1200D |
probably damaging |
Het |
| Dhps |
A |
G |
8: 85,799,181 (GRCm39) |
Y103C |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,041,865 (GRCm39) |
E35D |
probably benign |
Het |
| Dnajb9 |
A |
T |
12: 44,254,169 (GRCm39) |
D79E |
probably damaging |
Het |
| Eif4a2 |
T |
C |
16: 22,928,877 (GRCm39) |
F164S |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,714,813 (GRCm39) |
T595A |
probably benign |
Het |
| Exoc6b |
T |
A |
6: 84,768,366 (GRCm39) |
|
probably null |
Het |
| Fam171a1 |
T |
C |
2: 3,221,391 (GRCm39) |
S286P |
probably damaging |
Het |
| Fermt2 |
T |
A |
14: 45,706,782 (GRCm39) |
N338I |
probably damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,353,438 (GRCm39) |
F596L |
probably benign |
Het |
| Fry |
T |
C |
5: 150,304,359 (GRCm39) |
V583A |
probably benign |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Gdap1 |
T |
A |
1: 17,231,665 (GRCm39) |
F337I |
possibly damaging |
Het |
| Git2 |
C |
T |
5: 114,904,550 (GRCm39) |
R123H |
probably damaging |
Het |
| Gpr6 |
A |
T |
10: 40,946,652 (GRCm39) |
I310N |
possibly damaging |
Het |
| Gpsm2 |
G |
A |
3: 108,608,061 (GRCm39) |
A239V |
probably damaging |
Het |
| Hexa |
T |
C |
9: 59,471,267 (GRCm39) |
V507A |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,345,531 (GRCm39) |
H4718L |
possibly damaging |
Het |
| Hrh4 |
T |
C |
18: 13,154,970 (GRCm39) |
F170L |
possibly damaging |
Het |
| Ica1 |
T |
C |
6: 8,658,266 (GRCm39) |
T284A |
probably benign |
Het |
| Itga5 |
T |
C |
15: 103,258,876 (GRCm39) |
N774S |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,395,992 (GRCm39) |
S556P |
probably benign |
Het |
| Kash5 |
A |
T |
7: 44,854,035 (GRCm39) |
H31Q |
possibly damaging |
Het |
| Kcnq4 |
A |
G |
4: 120,568,565 (GRCm39) |
F384L |
probably benign |
Het |
| Lama2 |
A |
T |
10: 26,882,726 (GRCm39) |
N2612K |
probably benign |
Het |
| Lnx1 |
T |
C |
5: 74,846,099 (GRCm39) |
E117G |
probably benign |
Het |
| Lrrc14b |
G |
T |
13: 74,508,892 (GRCm39) |
A505E |
probably damaging |
Het |
| Ly6g |
T |
C |
15: 75,030,413 (GRCm39) |
I77T |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mrgpre |
C |
T |
7: 143,335,087 (GRCm39) |
V139M |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,753,411 (GRCm38) |
S1096T |
probably benign |
Het |
| Myrfl |
G |
A |
10: 116,667,430 (GRCm39) |
R337* |
probably null |
Het |
| Ndufa4 |
C |
T |
6: 11,906,092 (GRCm39) |
V20I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,299,595 (GRCm39) |
D241G |
probably null |
Het |
| Nid1 |
A |
G |
13: 13,643,028 (GRCm39) |
D322G |
probably benign |
Het |
| Nova1 |
A |
T |
12: 46,747,544 (GRCm39) |
D244E |
unknown |
Het |
| Or11g27 |
T |
A |
14: 50,771,770 (GRCm39) |
D300E |
probably benign |
Het |
| Or4a68 |
T |
C |
2: 89,269,745 (GRCm39) |
K293E |
possibly damaging |
Het |
| Or5m10b |
A |
G |
2: 85,699,350 (GRCm39) |
K138R |
probably benign |
Het |
| Padi2 |
C |
A |
4: 140,676,648 (GRCm39) |
N595K |
possibly damaging |
Het |
| Pag1 |
A |
G |
3: 9,758,951 (GRCm39) |
I389T |
probably damaging |
Het |
| Pcdh10 |
G |
T |
3: 45,335,810 (GRCm39) |
G708V |
possibly damaging |
Het |
| Pecam1 |
A |
G |
11: 106,590,610 (GRCm39) |
S55P |
probably damaging |
Het |
| Plin3 |
A |
T |
17: 56,591,192 (GRCm39) |
V196E |
possibly damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,847,316 (GRCm39) |
L119Q |
possibly damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,726,681 (GRCm39) |
N346I |
probably damaging |
Het |
| Ppp1r27 |
A |
T |
11: 120,441,856 (GRCm39) |
Y8* |
probably null |
Het |
| Prg3 |
A |
T |
2: 84,819,746 (GRCm39) |
D80V |
probably damaging |
Het |
| Prmt5 |
T |
C |
14: 54,745,347 (GRCm39) |
N607D |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,730,538 (GRCm39) |
F1144L |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,593,189 (GRCm39) |
G152R |
probably damaging |
Het |
| Rap1gds1 |
T |
A |
3: 138,661,976 (GRCm39) |
R427* |
probably null |
Het |
| Recql5 |
A |
G |
11: 115,819,248 (GRCm39) |
V106A |
probably benign |
Het |
| Resp18 |
T |
C |
1: 75,250,615 (GRCm39) |
T155A |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,557,914 (GRCm39) |
D129G |
probably benign |
Het |
| Rsf1 |
T |
A |
7: 97,310,374 (GRCm39) |
I368K |
|
Het |
| Sema6a |
C |
G |
18: 47,424,231 (GRCm39) |
V226L |
probably damaging |
Het |
| Sf1 |
A |
G |
19: 6,422,234 (GRCm39) |
E220G |
probably damaging |
Het |
| Shld2 |
C |
T |
14: 33,959,423 (GRCm39) |
S853N |
probably damaging |
Het |
| Sidt1 |
T |
A |
16: 44,079,848 (GRCm39) |
Y602F |
probably damaging |
Het |
| Slc17a8 |
A |
G |
10: 89,428,008 (GRCm39) |
I273T |
probably benign |
Het |
| Slc28a2b |
A |
T |
2: 122,353,325 (GRCm39) |
I502F |
not run |
Het |
| Slc41a1 |
A |
T |
1: 131,766,889 (GRCm39) |
I136F |
probably damaging |
Het |
| Snrpb |
T |
C |
2: 130,018,939 (GRCm39) |
I51V |
probably benign |
Het |
| Sprr2f |
T |
A |
3: 92,273,254 (GRCm39) |
C18S |
unknown |
Het |
| Stab1 |
T |
C |
14: 30,876,622 (GRCm39) |
N864S |
probably benign |
Het |
| Svil |
C |
A |
18: 5,095,188 (GRCm39) |
T1457K |
probably benign |
Het |
| Syt1 |
A |
T |
10: 108,340,262 (GRCm39) |
I352N |
probably damaging |
Het |
| Tas2r119 |
A |
G |
15: 32,178,279 (GRCm39) |
K282E |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,080,538 (GRCm39) |
F473S |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,247,481 (GRCm39) |
D192G |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,316,591 (GRCm39) |
I184N |
possibly damaging |
Het |
| Ttll6 |
G |
A |
11: 96,025,701 (GRCm39) |
V61M |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,632,755 (GRCm39) |
E14100K |
probably damaging |
Het |
| Txndc2 |
T |
A |
17: 65,945,620 (GRCm39) |
I186F |
possibly damaging |
Het |
| Ubr1 |
A |
T |
2: 120,703,672 (GRCm39) |
S1553T |
possibly damaging |
Het |
| Vmn1r208 |
T |
C |
13: 22,956,705 (GRCm39) |
N264S |
probably benign |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,613 (GRCm39) |
M225L |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,899 (GRCm39) |
C632S |
possibly damaging |
Het |
| Wdr97 |
T |
A |
15: 76,241,949 (GRCm39) |
Y747* |
probably null |
Het |
| Zfp474 |
T |
C |
18: 52,772,261 (GRCm39) |
S305P |
probably benign |
Het |
| Zfp59 |
A |
G |
7: 27,552,863 (GRCm39) |
N105S |
probably benign |
Het |
| Zfp804b |
T |
A |
5: 6,822,301 (GRCm39) |
Y254F |
possibly 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 |
|
|
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 |
|
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 |
|
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'- TGTCATGAAGGGATGTCTCAG -3'
(R):5'- TGTAAAGCTGCAGCCTAAACAC -3'
Sequencing Primer
(F):5'- CATGAAGGGATGTCTCAGTTTTG -3'
(R):5'- CTCAGTGGTGCAGTGATCACATAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation