Incidental Mutation 'R2154:Abca5'
| ID |
234641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca5
|
| Ensembl Gene |
ENSMUSG00000018800 |
| Gene Name |
ATP-binding cassette, sub-family A member 5 |
| Synonyms |
ABC13, B930033A02Rik |
| MMRRC Submission |
040157-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R2154 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110183000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1019
(I1019T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
|
| AlphaFold |
Q8K448 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043961
AA Change: I1019T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: I1019T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
29 |
416 |
4.3e-33 |
PFAM |
|
AAA
|
506 |
691 |
2.88e-8 |
SMART |
|
low complexity region
|
733 |
744 |
N/A |
INTRINSIC |
|
transmembrane domain
|
864 |
886 |
N/A |
INTRINSIC |
|
transmembrane domain
|
971 |
993 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1267 |
N/A |
INTRINSIC |
|
AAA
|
1325 |
1512 |
3.52e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124714
AA Change: I1019T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: I1019T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
30 |
416 |
9.5e-32 |
PFAM |
|
AAA
|
506 |
691 |
2.88e-8 |
SMART |
|
low complexity region
|
733 |
744 |
N/A |
INTRINSIC |
|
transmembrane domain
|
864 |
886 |
N/A |
INTRINSIC |
|
transmembrane domain
|
971 |
993 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1019 |
1041 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1074 |
1096 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1103 |
1125 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1136 |
1158 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1165 |
1187 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted(3)
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,208,959 (GRCm39) |
E363G |
probably benign |
Het |
| Abca3 |
A |
G |
17: 24,596,693 (GRCm39) |
Y382C |
probably damaging |
Het |
| Acox3 |
A |
T |
5: 35,762,568 (GRCm39) |
S481C |
probably damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,870,030 (GRCm39) |
M261K |
probably benign |
Het |
| Aqr |
A |
C |
2: 113,967,485 (GRCm39) |
M510R |
probably damaging |
Het |
| Arpc1a |
A |
T |
5: 145,029,369 (GRCm39) |
T56S |
probably benign |
Het |
| Asap2 |
A |
T |
12: 21,162,084 (GRCm39) |
T14S |
probably damaging |
Het |
| Aspg |
A |
G |
12: 112,087,408 (GRCm39) |
E288G |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,482,841 (GRCm39) |
N901S |
probably benign |
Het |
| Cabcoco1 |
A |
G |
10: 68,267,092 (GRCm39) |
L205P |
probably damaging |
Het |
| Cant1 |
A |
G |
11: 118,302,263 (GRCm39) |
L18P |
probably damaging |
Het |
| Cdca2 |
G |
A |
14: 67,914,425 (GRCm39) |
P945S |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,513,753 (GRCm39) |
K522E |
possibly damaging |
Het |
| Chek1 |
C |
A |
9: 36,635,279 (GRCm39) |
V35F |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,407,547 (GRCm39) |
M330K |
probably damaging |
Het |
| Creb3l4 |
G |
T |
3: 90,145,792 (GRCm39) |
N246K |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 39,022,819 (GRCm39) |
V319D |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,877,317 (GRCm39) |
S519T |
probably benign |
Het |
| Dhx38 |
T |
C |
8: 110,287,306 (GRCm39) |
S221G |
probably benign |
Het |
| Dis3l |
T |
A |
9: 64,214,545 (GRCm39) |
N981I |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,870,661 (GRCm39) |
V1467E |
probably damaging |
Het |
| Dock4 |
ACCTGCTCTGCC |
ACCTGCTCTGCCTGCTCTGCC |
12: 40,894,547 (GRCm39) |
|
probably benign |
Het |
| Dok5 |
G |
A |
2: 170,642,816 (GRCm39) |
G38D |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,013,821 (GRCm39) |
S631P |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,688 (GRCm39) |
S194C |
probably damaging |
Het |
| Fcsk |
T |
A |
8: 111,615,704 (GRCm39) |
T542S |
probably benign |
Het |
| Garem2 |
T |
C |
5: 30,313,297 (GRCm39) |
S54P |
probably damaging |
Het |
| Gdf10 |
T |
C |
14: 33,656,346 (GRCm39) |
I436T |
probably damaging |
Het |
| Gfod1 |
T |
C |
13: 43,456,946 (GRCm39) |
T10A |
possibly damaging |
Het |
| Gucy1a1 |
A |
G |
3: 82,018,458 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
G |
T |
17: 79,138,873 (GRCm39) |
Q90K |
probably benign |
Het |
| Ikzf3 |
T |
A |
11: 98,376,475 (GRCm39) |
K211* |
probably null |
Het |
| Itgam |
A |
C |
7: 127,684,749 (GRCm39) |
D373A |
probably damaging |
Het |
| Itpripl2 |
A |
G |
7: 118,089,107 (GRCm39) |
F484S |
probably damaging |
Het |
| Kat6b |
A |
T |
14: 21,718,735 (GRCm39) |
H1138L |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,532,500 (GRCm39) |
K1213R |
probably damaging |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Mmp25 |
T |
A |
17: 23,850,048 (GRCm39) |
Y504F |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,228,797 (GRCm39) |
K38E |
possibly damaging |
Het |
| Myh14 |
A |
C |
7: 44,301,853 (GRCm39) |
|
probably null |
Het |
| Nedd4l |
T |
A |
18: 65,343,401 (GRCm39) |
H820Q |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,307,240 (GRCm39) |
T562A |
probably benign |
Het |
| Or8b49 |
G |
T |
9: 38,505,707 (GRCm39) |
L63F |
probably damaging |
Het |
| Pds5a |
A |
T |
5: 65,807,841 (GRCm39) |
V464E |
probably damaging |
Het |
| Peak1 |
C |
T |
9: 56,114,496 (GRCm39) |
V452M |
probably damaging |
Het |
| Phf2 |
T |
C |
13: 48,973,549 (GRCm39) |
Y372C |
unknown |
Het |
| Poc1a |
T |
A |
9: 106,162,773 (GRCm39) |
|
probably null |
Het |
| Prss33 |
C |
T |
17: 24,053,817 (GRCm39) |
V87M |
probably damaging |
Het |
| Psmc2 |
C |
G |
5: 22,008,127 (GRCm39) |
L344V |
possibly damaging |
Het |
| Ptpn12 |
C |
A |
5: 21,207,466 (GRCm39) |
Q297H |
probably damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,365,453 (GRCm39) |
V242A |
probably damaging |
Het |
| Rad1 |
C |
A |
15: 10,486,721 (GRCm39) |
H39Q |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,986 (GRCm39) |
H636R |
probably benign |
Het |
| Samd9l |
C |
T |
6: 3,372,945 (GRCm39) |
D1439N |
possibly damaging |
Het |
| Sbno1 |
A |
T |
5: 124,516,574 (GRCm39) |
D1266E |
probably benign |
Het |
| Sidt2 |
T |
C |
9: 45,856,638 (GRCm39) |
D477G |
probably damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,037,753 (GRCm39) |
K125R |
probably benign |
Het |
| Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
| Slmap |
A |
G |
14: 26,139,402 (GRCm39) |
Y771H |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,757,299 (GRCm39) |
|
probably benign |
Het |
| Spinkl |
A |
T |
18: 44,302,194 (GRCm39) |
N32K |
probably benign |
Het |
| Stxbp1 |
T |
A |
2: 32,692,868 (GRCm39) |
I383F |
probably damaging |
Het |
| Taf3 |
C |
T |
2: 9,956,377 (GRCm39) |
E597K |
possibly damaging |
Het |
| Tln2 |
T |
C |
9: 67,209,842 (GRCm39) |
T432A |
probably damaging |
Het |
| Tmco6 |
T |
C |
18: 36,874,740 (GRCm39) |
V409A |
probably benign |
Het |
| Tstd2 |
T |
C |
4: 46,129,235 (GRCm39) |
T198A |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,063 (GRCm39) |
M84K |
probably damaging |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,965 (GRCm39) |
S2C |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,816,805 (GRCm39) |
T259S |
probably benign |
Het |
| Vmn2r70 |
A |
G |
7: 85,212,923 (GRCm39) |
S495P |
possibly damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,167,584 (GRCm39) |
R613* |
probably null |
Het |
| Yme1l1 |
T |
C |
2: 23,052,520 (GRCm39) |
L58P |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,412,511 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,466,801 (GRCm39) |
T2320A |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,227,774 (GRCm39) |
D1945G |
possibly damaging |
Het |
|
| Other mutations in Abca5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Abca5
|
APN |
11 |
110,200,276 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00675:Abca5
|
APN |
11 |
110,195,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01512:Abca5
|
APN |
11 |
110,208,649 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01559:Abca5
|
APN |
11 |
110,163,352 (GRCm39) |
missense |
probably benign |
|
|
IGL01584:Abca5
|
APN |
11 |
110,195,749 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01604:Abca5
|
APN |
11 |
110,168,462 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01828:Abca5
|
APN |
11 |
110,178,521 (GRCm39) |
missense |
probably benign |
|
|
IGL01880:Abca5
|
APN |
11 |
110,184,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02054:Abca5
|
APN |
11 |
110,182,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02074:Abca5
|
APN |
11 |
110,184,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02233:Abca5
|
APN |
11 |
110,165,170 (GRCm39) |
nonsense |
probably null |
|
|
IGL02245:Abca5
|
APN |
11 |
110,188,995 (GRCm39) |
nonsense |
probably null |
|
|
IGL02317:Abca5
|
APN |
11 |
110,218,587 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02352:Abca5
|
APN |
11 |
110,166,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02359:Abca5
|
APN |
11 |
110,166,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02390:Abca5
|
APN |
11 |
110,187,377 (GRCm39) |
missense |
probably benign |
|
|
IGL02600:Abca5
|
APN |
11 |
110,200,264 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02639:Abca5
|
APN |
11 |
110,178,899 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03000:Abca5
|
APN |
11 |
110,208,640 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03074:Abca5
|
APN |
11 |
110,201,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03078:Abca5
|
APN |
11 |
110,167,371 (GRCm39) |
nonsense |
probably null |
|
|
IGL03342:Abca5
|
APN |
11 |
110,178,517 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03368:Abca5
|
APN |
11 |
110,204,348 (GRCm39) |
splice site |
probably benign |
|
|
atles
|
UTSW |
11 |
110,190,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Demento
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
jones
|
UTSW |
11 |
110,178,884 (GRCm39) |
splice site |
probably null |
|
|
smith
|
UTSW |
11 |
110,192,371 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0106:Abca5
|
UTSW |
11 |
110,210,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Abca5
|
UTSW |
11 |
110,167,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0305:Abca5
|
UTSW |
11 |
110,164,137 (GRCm39) |
splice site |
probably benign |
|
|
R0550:Abca5
|
UTSW |
11 |
110,184,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0578:Abca5
|
UTSW |
11 |
110,167,315 (GRCm39) |
nonsense |
probably null |
|
|
R0587:Abca5
|
UTSW |
11 |
110,202,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0610:Abca5
|
UTSW |
11 |
110,192,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0617:Abca5
|
UTSW |
11 |
110,170,515 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0667:Abca5
|
UTSW |
11 |
110,218,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0844:Abca5
|
UTSW |
11 |
110,210,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1273:Abca5
|
UTSW |
11 |
110,217,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1463:Abca5
|
UTSW |
11 |
110,205,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Abca5
|
UTSW |
11 |
110,190,812 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1511:Abca5
|
UTSW |
11 |
110,190,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Abca5
|
UTSW |
11 |
110,184,714 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1759:Abca5
|
UTSW |
11 |
110,184,674 (GRCm39) |
missense |
probably benign |
|
|
R1870:Abca5
|
UTSW |
11 |
110,220,043 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2006:Abca5
|
UTSW |
11 |
110,204,275 (GRCm39) |
missense |
probably benign |
|
|
R2039:Abca5
|
UTSW |
11 |
110,190,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2076:Abca5
|
UTSW |
11 |
110,178,478 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2136:Abca5
|
UTSW |
11 |
110,210,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2273:Abca5
|
UTSW |
11 |
110,166,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2274:Abca5
|
UTSW |
11 |
110,166,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2275:Abca5
|
UTSW |
11 |
110,166,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2328:Abca5
|
UTSW |
11 |
110,167,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3702:Abca5
|
UTSW |
11 |
110,178,884 (GRCm39) |
splice site |
probably null |
|
|
R3768:Abca5
|
UTSW |
11 |
110,204,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3872:Abca5
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3873:Abca5
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Abca5
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:Abca5
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4347:Abca5
|
UTSW |
11 |
110,190,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Abca5
|
UTSW |
11 |
110,202,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4790:Abca5
|
UTSW |
11 |
110,202,236 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4812:Abca5
|
UTSW |
11 |
110,192,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4833:Abca5
|
UTSW |
11 |
110,170,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4883:Abca5
|
UTSW |
11 |
110,217,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Abca5
|
UTSW |
11 |
110,201,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Abca5
|
UTSW |
11 |
110,170,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5066:Abca5
|
UTSW |
11 |
110,200,176 (GRCm39) |
intron |
probably benign |
|
|
R5230:Abca5
|
UTSW |
11 |
110,210,686 (GRCm39) |
missense |
probably benign |
|
|
R5321:Abca5
|
UTSW |
11 |
110,218,651 (GRCm39) |
missense |
probably benign |
|
|
R5350:Abca5
|
UTSW |
11 |
110,210,622 (GRCm39) |
nonsense |
probably null |
|
|
R5414:Abca5
|
UTSW |
11 |
110,205,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5437:Abca5
|
UTSW |
11 |
110,210,622 (GRCm39) |
nonsense |
probably null |
|
|
R5451:Abca5
|
UTSW |
11 |
110,210,622 (GRCm39) |
nonsense |
probably null |
|
|
R5453:Abca5
|
UTSW |
11 |
110,210,622 (GRCm39) |
nonsense |
probably null |
|
|
R5488:Abca5
|
UTSW |
11 |
110,183,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5636:Abca5
|
UTSW |
11 |
110,192,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5805:Abca5
|
UTSW |
11 |
110,170,216 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5900:Abca5
|
UTSW |
11 |
110,169,982 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6152:Abca5
|
UTSW |
11 |
110,204,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Abca5
|
UTSW |
11 |
110,182,931 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6343:Abca5
|
UTSW |
11 |
110,205,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6425:Abca5
|
UTSW |
11 |
110,220,058 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6493:Abca5
|
UTSW |
11 |
110,184,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6498:Abca5
|
UTSW |
11 |
110,182,928 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6884:Abca5
|
UTSW |
11 |
110,220,043 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6912:Abca5
|
UTSW |
11 |
110,197,106 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7084:Abca5
|
UTSW |
11 |
110,192,371 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7239:Abca5
|
UTSW |
11 |
110,217,530 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7490:Abca5
|
UTSW |
11 |
110,168,437 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7527:Abca5
|
UTSW |
11 |
110,218,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7702:Abca5
|
UTSW |
11 |
110,167,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7763:Abca5
|
UTSW |
11 |
110,163,323 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8237:Abca5
|
UTSW |
11 |
110,200,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8910:Abca5
|
UTSW |
11 |
110,189,030 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9028:Abca5
|
UTSW |
11 |
110,188,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Abca5
|
UTSW |
11 |
110,189,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9151:Abca5
|
UTSW |
11 |
110,188,908 (GRCm39) |
missense |
probably benign |
|
|
R9187:Abca5
|
UTSW |
11 |
110,200,961 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9249:Abca5
|
UTSW |
11 |
110,220,165 (GRCm39) |
intron |
probably benign |
|
|
R9322:Abca5
|
UTSW |
11 |
110,192,331 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9391:Abca5
|
UTSW |
11 |
110,178,542 (GRCm39) |
missense |
probably benign |
|
|
R9435:Abca5
|
UTSW |
11 |
110,182,911 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9557:Abca5
|
UTSW |
11 |
110,197,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Abca5
|
UTSW |
11 |
110,168,248 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9788:Abca5
|
UTSW |
11 |
110,192,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF014:Abca5
|
UTSW |
11 |
110,170,580 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Abca5
|
UTSW |
11 |
110,170,154 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTTGCAGGAATTGATACGTGT -3'
(R):5'- CCAACACTCTTGCTAATAAACCTG -3'
Sequencing Primer
(F):5'- ACTGGGGTCTTCTTCAAGGAAAGC -3'
(R):5'- GTTATTCATTCATACCACTACGGCAG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation