Incidental Mutation 'R4883:Acaca'
| ID |
375439 |
| 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 |
042491-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4883 (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 A
at 84142116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 641
(V641E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020843]
[ENSMUST00000103201]
|
| AlphaFold |
Q5SWU9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020843
AA Change: V641E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000020843
Gene: ENSMUSG00000020532
AA Change: V641E
| 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: V641E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099490
Gene: ENSMUSG00000020532
AA Change: V641E
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,217,457 (GRCm39) |
D133G |
probably damaging |
Het |
| Abcg4 |
G |
T |
9: 44,190,616 (GRCm39) |
H55Q |
probably damaging |
Het |
| Adam28 |
T |
C |
14: 68,875,552 (GRCm39) |
I229V |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,837,493 (GRCm39) |
I793N |
probably damaging |
Het |
| Akr1d1 |
A |
T |
6: 37,535,336 (GRCm39) |
D240V |
possibly damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,018,802 (GRCm39) |
D548G |
probably benign |
Het |
| Asl |
A |
G |
5: 130,042,802 (GRCm39) |
|
probably null |
Het |
| Atg14 |
C |
T |
14: 47,788,771 (GRCm39) |
R194Q |
probably damaging |
Het |
| BC004004 |
T |
A |
17: 29,501,166 (GRCm39) |
F38L |
probably damaging |
Het |
| Btg1 |
T |
C |
10: 96,453,259 (GRCm39) |
F25L |
probably benign |
Het |
| Btrc |
C |
T |
19: 45,445,026 (GRCm39) |
P35S |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,714,705 (GRCm39) |
N142Y |
probably damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,397,818 (GRCm39) |
I553V |
probably benign |
Het |
| Ccdc198 |
T |
A |
14: 49,482,560 (GRCm39) |
N52I |
probably damaging |
Het |
| Cdc42 |
T |
A |
4: 137,056,115 (GRCm39) |
N132I |
probably benign |
Het |
| Ces1e |
A |
G |
8: 93,950,716 (GRCm39) |
S22P |
probably benign |
Het |
| Clmn |
G |
T |
12: 104,748,307 (GRCm39) |
D413E |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,201,293 (GRCm39) |
T730A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,343,784 (GRCm39) |
M2395L |
probably benign |
Het |
| Ephx1 |
G |
T |
1: 180,829,488 (GRCm39) |
S20Y |
possibly damaging |
Het |
| Exoc5 |
T |
G |
14: 49,289,821 (GRCm39) |
E19A |
probably damaging |
Het |
| Fam120b |
T |
C |
17: 15,623,294 (GRCm39) |
L424P |
probably benign |
Het |
| Fam89a |
G |
A |
8: 125,467,823 (GRCm39) |
T163I |
possibly damaging |
Het |
| Fcrl2 |
G |
A |
3: 87,166,922 (GRCm39) |
L24F |
possibly damaging |
Het |
| Fgd6 |
G |
T |
10: 93,975,715 (GRCm39) |
V1377L |
probably benign |
Het |
| Glud1 |
T |
A |
14: 34,057,347 (GRCm39) |
I337K |
possibly damaging |
Het |
| Gm6370 |
T |
A |
5: 146,430,736 (GRCm39) |
I303N |
probably benign |
Het |
| Gm7995 |
T |
C |
14: 42,133,383 (GRCm39) |
Y88H |
probably damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,520,393 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
T |
C |
15: 63,707,614 (GRCm39) |
D60G |
probably damaging |
Het |
| Hcn1 |
T |
A |
13: 118,039,431 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,831,030 (GRCm39) |
C936* |
probably null |
Het |
| Herc4 |
T |
A |
10: 63,121,433 (GRCm39) |
S358T |
probably benign |
Het |
| Hk3 |
A |
G |
13: 55,158,735 (GRCm39) |
C515R |
probably benign |
Het |
| Ighg1 |
A |
G |
12: 113,291,138 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 88,014,842 (GRCm39) |
C853S |
probably benign |
Het |
| Irx4 |
G |
A |
13: 73,415,750 (GRCm39) |
A180T |
probably damaging |
Het |
| Kif20b |
A |
G |
19: 34,943,522 (GRCm39) |
T1441A |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,215,106 (GRCm39) |
K738E |
possibly damaging |
Het |
| Lmntd2 |
A |
T |
7: 140,792,531 (GRCm39) |
S218T |
probably damaging |
Het |
| Lnx1 |
A |
T |
5: 74,768,530 (GRCm39) |
W353R |
probably benign |
Het |
| Lrfn3 |
G |
T |
7: 30,055,238 (GRCm39) |
P569Q |
possibly damaging |
Het |
| Mamstr |
A |
G |
7: 45,293,838 (GRCm39) |
I11V |
probably benign |
Het |
| Med31 |
T |
C |
11: 72,104,975 (GRCm39) |
N32S |
possibly damaging |
Het |
| Mob3c |
A |
T |
4: 115,690,928 (GRCm39) |
I173F |
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,667,250 (GRCm39) |
|
probably null |
Het |
| Mphosph9 |
T |
C |
5: 124,437,108 (GRCm39) |
K412R |
probably damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,072,537 (GRCm39) |
N610Y |
probably damaging |
Het |
| Mthfd1l |
C |
T |
10: 3,957,775 (GRCm39) |
P271S |
probably benign |
Het |
| Ncam1 |
C |
T |
9: 49,453,183 (GRCm39) |
|
probably null |
Het |
| Ncbp3 |
T |
A |
11: 72,960,578 (GRCm39) |
Y279N |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,248,687 (GRCm39) |
T1539I |
probably benign |
Het |
| Nedd4 |
G |
A |
9: 72,647,515 (GRCm39) |
|
probably null |
Het |
| Neil1 |
A |
G |
9: 57,054,206 (GRCm39) |
V38A |
probably damaging |
Het |
| Ngf |
T |
A |
3: 102,427,961 (GRCm39) |
F237I |
probably damaging |
Het |
| Nol3 |
A |
G |
8: 106,005,888 (GRCm39) |
Q94R |
possibly damaging |
Het |
| Obox1 |
A |
G |
7: 15,290,263 (GRCm39) |
N202S |
probably damaging |
Het |
| Odc1 |
T |
A |
12: 17,597,386 (GRCm39) |
N29K |
possibly damaging |
Het |
| Or2b7 |
C |
T |
13: 21,739,658 (GRCm39) |
R178H |
probably benign |
Het |
| Or2h15 |
T |
C |
17: 38,441,508 (GRCm39) |
T192A |
probably damaging |
Het |
| Or4a69 |
C |
T |
2: 89,312,652 (GRCm39) |
V276I |
probably benign |
Het |
| Or52a20 |
A |
C |
7: 103,365,914 (GRCm39) |
I38L |
probably benign |
Het |
| P2rx7 |
T |
A |
5: 122,819,129 (GRCm39) |
V517E |
probably damaging |
Het |
| Parm1 |
A |
G |
5: 91,741,775 (GRCm39) |
T48A |
possibly damaging |
Het |
| Pcdh9 |
T |
A |
14: 94,126,164 (GRCm39) |
D2V |
possibly damaging |
Het |
| Pgm3 |
G |
T |
9: 86,451,378 (GRCm39) |
T92N |
probably damaging |
Het |
| Plcg2 |
G |
T |
8: 118,333,872 (GRCm39) |
G882* |
probably null |
Het |
| Ptpn14 |
C |
T |
1: 189,582,997 (GRCm39) |
P615S |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,464,928 (GRCm39) |
Y1244F |
probably damaging |
Het |
| Rere |
G |
A |
4: 150,700,510 (GRCm39) |
A1162T |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,090,747 (GRCm39) |
E391G |
probably damaging |
Het |
| Sema4c |
A |
G |
1: 36,591,097 (GRCm39) |
V414A |
probably damaging |
Het |
| Serpinb10 |
A |
T |
1: 107,468,681 (GRCm39) |
N185I |
probably damaging |
Het |
| Shroom3 |
T |
G |
5: 93,098,993 (GRCm39) |
M1410R |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,134,356 (GRCm39) |
S176T |
probably benign |
Het |
| Sntb1 |
A |
T |
15: 55,506,198 (GRCm39) |
Y458* |
probably null |
Het |
| Sorcs1 |
C |
T |
19: 50,220,741 (GRCm39) |
V570I |
probably benign |
Het |
| Sp8 |
T |
A |
12: 118,812,805 (GRCm39) |
V220E |
probably damaging |
Het |
| Spry1 |
C |
T |
3: 37,696,868 (GRCm39) |
T37M |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,437,756 (GRCm39) |
H1305L |
probably benign |
Het |
| Tbc1d22a |
A |
G |
15: 86,381,117 (GRCm39) |
D509G |
possibly damaging |
Het |
| Tmem108 |
A |
T |
9: 103,376,276 (GRCm39) |
V391D |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 128,346,366 (GRCm39) |
H52L |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 128,346,364 (GRCm39) |
I53F |
probably damaging |
Het |
| Tnnt2 |
A |
T |
1: 135,775,496 (GRCm39) |
R87* |
probably null |
Het |
| Ube3a |
A |
T |
7: 58,893,198 (GRCm39) |
M1L |
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,060,592 (GRCm39) |
T1119A |
probably damaging |
Het |
| Usf3 |
A |
T |
16: 44,039,942 (GRCm39) |
H1474L |
probably damaging |
Het |
| Vcpip1 |
G |
A |
1: 9,817,423 (GRCm39) |
T320I |
probably damaging |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,443 (GRCm39) |
L58P |
probably damaging |
Het |
| Wdr53 |
A |
T |
16: 32,075,796 (GRCm39) |
K334* |
probably null |
Het |
| Zbtb40 |
T |
A |
4: 136,728,241 (GRCm39) |
R459W |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,246,547 (GRCm39) |
L878Q |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,671,455 (GRCm39) |
D206G |
probably benign |
Het |
| Zfp46 |
T |
A |
4: 136,017,792 (GRCm39) |
C209S |
probably damaging |
Het |
| Zup1 |
G |
T |
10: 33,825,038 (GRCm39) |
T148K |
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 |
84,229,219 (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 |
|
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'- TGCCCATTATCTACAGCCAG -3'
(R):5'- TTGCCACCCATTCAGGAATAAC -3'
Sequencing Primer
(F):5'- AGCTGCACAGATGACTTGTC -3'
(R):5'- CAAACAACCAGTAGTCATAAAGTGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation