Incidental Mutation 'R1793:Acaca'
| ID |
201970 |
| 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 |
039823-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1793 (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 84229219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1682
(D1682G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020843]
[ENSMUST00000103201]
|
| AlphaFold |
Q5SWU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020843
AA Change: D1682G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: D1682G
| 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: D1682G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: D1682G
| 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 |
0.9055 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
| 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: 117 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,144 (GRCm39) |
H571Q |
probably damaging |
Het |
| Abcf2 |
T |
A |
5: 24,773,774 (GRCm39) |
M372L |
probably benign |
Het |
| Acvr1b |
T |
C |
15: 101,091,906 (GRCm39) |
V62A |
probably benign |
Het |
| Aimp1 |
C |
T |
3: 132,379,825 (GRCm39) |
V97M |
probably benign |
Het |
| Aldh1l1 |
C |
T |
6: 90,554,813 (GRCm39) |
T557I |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,471,447 (GRCm39) |
T1012A |
probably damaging |
Het |
| Amot |
G |
A |
X: 144,233,585 (GRCm39) |
|
probably benign |
Het |
| Arap1 |
T |
A |
7: 101,037,829 (GRCm39) |
H477Q |
probably benign |
Het |
| Arhgap18 |
T |
A |
10: 26,736,732 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
C |
T |
4: 140,242,684 (GRCm39) |
V862M |
probably damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,554 (GRCm39) |
I27V |
probably benign |
Het |
| Asb18 |
G |
A |
1: 89,942,277 (GRCm39) |
P8L |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,977,616 (GRCm39) |
H2682R |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,079 (GRCm39) |
V241E |
probably benign |
Het |
| Atf7ip |
G |
T |
6: 136,586,217 (GRCm39) |
|
probably benign |
Het |
| AY358078 |
T |
G |
14: 52,042,051 (GRCm39) |
M142R |
unknown |
Het |
| C3 |
T |
A |
17: 57,526,592 (GRCm39) |
K796N |
possibly damaging |
Het |
| Ceacam16 |
T |
C |
7: 19,590,041 (GRCm39) |
T301A |
probably damaging |
Het |
| Ceacam5 |
T |
G |
7: 17,481,320 (GRCm39) |
Y356D |
probably benign |
Het |
| Cep192 |
C |
T |
18: 67,984,838 (GRCm39) |
A1616V |
possibly damaging |
Het |
| Cfap91 |
T |
A |
16: 38,141,781 (GRCm39) |
N384Y |
possibly damaging |
Het |
| Cherp |
A |
T |
8: 73,216,994 (GRCm39) |
H645Q |
probably benign |
Het |
| CK137956 |
T |
C |
4: 127,845,242 (GRCm39) |
D167G |
probably benign |
Het |
| Clcn1 |
T |
A |
6: 42,275,860 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
C |
T |
15: 92,189,552 (GRCm39) |
T625I |
possibly damaging |
Het |
| Cpn2 |
T |
A |
16: 30,078,142 (GRCm39) |
N520Y |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,746,620 (GRCm39) |
R1762W |
probably damaging |
Het |
| Cts3 |
C |
A |
13: 61,715,967 (GRCm39) |
V100F |
probably benign |
Het |
| Ddx56 |
A |
T |
11: 6,216,934 (GRCm39) |
V87D |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 66,010,420 (GRCm39) |
|
probably null |
Het |
| Dock1 |
T |
A |
7: 134,700,456 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,191,552 (GRCm39) |
Y291* |
probably null |
Het |
| Eif4g3 |
T |
C |
4: 137,898,442 (GRCm39) |
I1071T |
probably damaging |
Het |
| Fblim1 |
T |
C |
4: 141,322,549 (GRCm39) |
Q78R |
probably damaging |
Het |
| Fcamr |
C |
T |
1: 130,739,284 (GRCm39) |
P195S |
probably benign |
Het |
| Fcho1 |
G |
A |
8: 72,161,666 (GRCm39) |
Q835* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,339,741 (GRCm39) |
N678S |
probably benign |
Het |
| Frk |
G |
A |
10: 34,483,878 (GRCm39) |
R413H |
probably benign |
Het |
| Gm10619 |
C |
A |
7: 73,459,758 (GRCm39) |
|
noncoding transcript |
Het |
| Gm12185 |
G |
A |
11: 48,806,583 (GRCm39) |
R203* |
probably null |
Het |
| Gm12886 |
A |
G |
4: 121,280,174 (GRCm39) |
V34A |
probably benign |
Het |
| Gna12 |
A |
T |
5: 140,746,707 (GRCm39) |
I246N |
probably damaging |
Het |
| Gpm6a |
T |
C |
8: 55,507,867 (GRCm39) |
M201T |
probably benign |
Het |
| Gpsm2 |
T |
G |
3: 108,608,225 (GRCm39) |
D220A |
probably benign |
Het |
| Grip2 |
C |
G |
6: 91,760,623 (GRCm39) |
V325L |
probably benign |
Het |
| Grk5 |
C |
A |
19: 61,065,200 (GRCm39) |
A288D |
probably damaging |
Het |
| Herpud2 |
G |
A |
9: 25,021,953 (GRCm39) |
A231V |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,624,834 (GRCm39) |
S1024G |
probably benign |
Het |
| Hp1bp3 |
A |
G |
4: 137,957,820 (GRCm39) |
D295G |
probably damaging |
Het |
| Igsf21 |
T |
C |
4: 139,761,703 (GRCm39) |
H325R |
probably damaging |
Het |
| Ing2 |
T |
A |
8: 48,122,364 (GRCm39) |
L61F |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,138,590 (GRCm39) |
|
probably benign |
Het |
| Kcnn3 |
T |
A |
3: 89,516,712 (GRCm39) |
C374S |
probably benign |
Het |
| Klk1b22 |
A |
G |
7: 43,765,775 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,940,764 (GRCm39) |
M630T |
possibly damaging |
Het |
| Lhx5 |
T |
A |
5: 120,572,725 (GRCm39) |
C115S |
probably damaging |
Het |
| Lmcd1 |
C |
A |
6: 112,305,712 (GRCm39) |
T271K |
probably benign |
Het |
| Lpar1 |
G |
A |
4: 58,486,798 (GRCm39) |
R158* |
probably null |
Het |
| Lyst |
T |
A |
13: 13,821,668 (GRCm39) |
C1347* |
probably null |
Het |
| Map3k8 |
G |
A |
18: 4,332,389 (GRCm39) |
Q441* |
probably null |
Het |
| Mboat1 |
T |
C |
13: 30,403,633 (GRCm39) |
V144A |
probably damaging |
Het |
| Mcur1 |
C |
T |
13: 43,713,491 (GRCm39) |
G38S |
unknown |
Het |
| Med13 |
T |
A |
11: 86,220,177 (GRCm39) |
M276L |
probably benign |
Het |
| Mefv |
A |
G |
16: 3,526,528 (GRCm39) |
S699P |
possibly damaging |
Het |
| Mfsd4a |
C |
A |
1: 131,987,077 (GRCm39) |
A62S |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,571,459 (GRCm39) |
M1V |
probably null |
Het |
| Myo1c |
C |
T |
11: 75,548,415 (GRCm39) |
T58I |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,538,066 (GRCm39) |
D1316V |
probably benign |
Het |
| Naa25 |
T |
A |
5: 121,555,478 (GRCm39) |
C235S |
possibly damaging |
Het |
| Naa25 |
C |
A |
5: 121,558,656 (GRCm39) |
R333S |
probably damaging |
Het |
| Nav3 |
G |
A |
10: 109,539,233 (GRCm39) |
T2056I |
probably benign |
Het |
| Nol4 |
A |
G |
18: 22,902,878 (GRCm39) |
Y378H |
probably damaging |
Het |
| Npat |
G |
A |
9: 53,463,589 (GRCm39) |
R124Q |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,848,665 (GRCm39) |
E434V |
probably benign |
Het |
| Nptx2 |
A |
G |
5: 144,485,130 (GRCm39) |
T208A |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,968,606 (GRCm39) |
V2798M |
probably damaging |
Het |
| Odad4 |
C |
A |
11: 100,460,679 (GRCm39) |
|
probably null |
Het |
| Or10j7 |
A |
T |
1: 173,011,976 (GRCm39) |
H8Q |
probably benign |
Het |
| Or52r1 |
A |
G |
7: 102,537,250 (GRCm39) |
Y37H |
probably benign |
Het |
| Or5b122 |
C |
T |
19: 13,562,779 (GRCm39) |
T37I |
probably benign |
Het |
| Padi1 |
G |
A |
4: 140,541,967 (GRCm39) |
P652S |
probably damaging |
Het |
| Pcdh1 |
G |
T |
18: 38,331,938 (GRCm39) |
P355Q |
probably damaging |
Het |
| Pck2 |
G |
A |
14: 55,781,422 (GRCm39) |
R189H |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,432,114 (GRCm39) |
K1500N |
possibly damaging |
Het |
| Phc3 |
A |
T |
3: 31,002,865 (GRCm39) |
S218T |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,239,355 (GRCm39) |
M510L |
possibly damaging |
Het |
| Polr1g |
T |
C |
7: 19,091,904 (GRCm39) |
T68A |
possibly damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,754,717 (GRCm39) |
Y177N |
probably damaging |
Het |
| Psme2b |
A |
T |
11: 48,836,361 (GRCm39) |
D195E |
probably damaging |
Het |
| Ptprr |
T |
C |
10: 116,088,827 (GRCm39) |
V463A |
probably damaging |
Het |
| Pwwp2b |
G |
A |
7: 138,836,281 (GRCm39) |
R574Q |
probably damaging |
Het |
| Rap1gds1 |
T |
A |
3: 138,756,314 (GRCm39) |
T14S |
possibly damaging |
Het |
| Rbm11 |
A |
T |
16: 75,397,685 (GRCm39) |
K205M |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,793,050 (GRCm39) |
|
probably benign |
Het |
| Rnasel |
C |
A |
1: 153,630,169 (GRCm39) |
H228Q |
probably damaging |
Het |
| Sap130 |
T |
A |
18: 31,831,640 (GRCm39) |
I710K |
probably benign |
Het |
| Slc27a4 |
C |
A |
2: 29,695,733 (GRCm39) |
D89E |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,863,779 (GRCm39) |
V309A |
probably benign |
Het |
| Syt7 |
T |
G |
19: 10,421,354 (GRCm39) |
Y420D |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,515,859 (GRCm39) |
|
probably null |
Het |
| Tbc1d10b |
A |
G |
7: 126,802,930 (GRCm39) |
S333P |
possibly damaging |
Het |
| Tenm2 |
G |
A |
11: 35,914,209 (GRCm39) |
P2442S |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 49,127,579 (GRCm39) |
C33Y |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,319,419 (GRCm39) |
L245P |
possibly damaging |
Het |
| Tlr5 |
T |
C |
1: 182,800,012 (GRCm39) |
F5L |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,726,999 (GRCm39) |
F784L |
possibly damaging |
Het |
| Tulp4 |
A |
G |
17: 6,189,387 (GRCm39) |
T70A |
possibly damaging |
Het |
| Txndc17 |
T |
A |
11: 72,099,571 (GRCm39) |
N81K |
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,830,895 (GRCm39) |
|
probably benign |
Het |
| Uri1 |
A |
C |
7: 37,681,116 (GRCm39) |
V96G |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,246 (GRCm39) |
I482N |
probably damaging |
Het |
| Vmn1r229 |
A |
G |
17: 21,034,974 (GRCm39) |
N73S |
possibly damaging |
Het |
| Vwa7 |
G |
T |
17: 35,243,388 (GRCm39) |
G689* |
probably null |
Het |
| Zfp114 |
T |
A |
7: 23,877,164 (GRCm39) |
|
probably null |
Het |
| Zfp618 |
A |
G |
4: 63,051,474 (GRCm39) |
S659G |
probably damaging |
Het |
| Zfp872 |
A |
G |
9: 22,111,349 (GRCm39) |
K275R |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,777,535 (GRCm39) |
P1789S |
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 |
|
|
R1775:Acaca
|
UTSW |
11 |
84,191,248 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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'- TTGTCTGCTTTCCAAGAAGCTTG -3'
(R):5'- ATCTTCAGGATCTACCCAGGC -3'
Sequencing Primer
(F):5'- CACAGTGCACATCTTCTGAAGGATG -3'
(R):5'- GGATCTACCCAGGCCACATG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation