Incidental Mutation 'R2006:Abca5'
ID |
225604 |
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 |
040015-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R2006 (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 T
at 110204275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 333
(F333L)
|
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: F333L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000047927 Gene: ENSMUSG00000018800 AA Change: F333L
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: F333L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120708 Gene: ENSMUSG00000018800 AA Change: F333L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127318
|
Coding Region Coverage |
- 1x: 99.2%
- 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.] 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: 97 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
A |
19: 43,793,500 (GRCm39) |
F384Y |
probably damaging |
Het |
Acr |
C |
T |
15: 89,458,404 (GRCm39) |
P362S |
probably benign |
Het |
Acss3 |
T |
C |
10: 106,798,871 (GRCm39) |
D484G |
possibly damaging |
Het |
Actrt1 |
A |
G |
X: 45,418,593 (GRCm39) |
T203A |
probably benign |
Het |
Agtpbp1 |
A |
T |
13: 59,648,135 (GRCm39) |
C562S |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,984,439 (GRCm39) |
K1908E |
probably damaging |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Apaf1 |
A |
T |
10: 90,897,634 (GRCm39) |
I283N |
probably damaging |
Het |
Bbx |
G |
A |
16: 50,044,758 (GRCm39) |
T493M |
possibly damaging |
Het |
Best2 |
C |
T |
8: 85,739,818 (GRCm39) |
|
probably null |
Het |
C4bp |
C |
A |
1: 130,575,769 (GRCm39) |
E75* |
probably null |
Het |
Calr3 |
A |
T |
8: 73,188,695 (GRCm39) |
V144D |
probably damaging |
Het |
Capn1 |
C |
T |
19: 6,041,613 (GRCm39) |
G632D |
probably damaging |
Het |
Catsper2 |
C |
A |
2: 121,236,838 (GRCm39) |
E270* |
probably null |
Het |
Ccdc110 |
A |
T |
8: 46,396,349 (GRCm39) |
I747F |
probably damaging |
Het |
Ccdc15 |
T |
A |
9: 37,226,768 (GRCm39) |
D389V |
possibly damaging |
Het |
Cd226 |
A |
G |
18: 89,265,435 (GRCm39) |
I125V |
probably benign |
Het |
Crb2 |
A |
T |
2: 37,673,446 (GRCm39) |
D114V |
probably damaging |
Het |
Crebbp |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
16: 3,902,617 (GRCm39) |
|
probably benign |
Het |
Crebrf |
T |
C |
17: 26,961,857 (GRCm39) |
V318A |
possibly damaging |
Het |
Dab1 |
T |
C |
4: 104,462,522 (GRCm39) |
I32T |
probably damaging |
Het |
Daw1 |
T |
C |
1: 83,169,066 (GRCm39) |
V181A |
probably damaging |
Het |
Dlg2 |
G |
A |
7: 91,614,825 (GRCm39) |
E255K |
possibly damaging |
Het |
Dnah10 |
T |
A |
5: 124,906,651 (GRCm39) |
D4170E |
possibly damaging |
Het |
Dnah12 |
A |
G |
14: 26,536,416 (GRCm39) |
T2111A |
possibly damaging |
Het |
Dock10 |
T |
C |
1: 80,527,506 (GRCm39) |
Y1081C |
possibly damaging |
Het |
Dscam |
T |
C |
16: 96,621,112 (GRCm39) |
Y532C |
probably damaging |
Het |
Fam83c |
T |
C |
2: 155,672,223 (GRCm39) |
D404G |
probably benign |
Het |
Fam83g |
A |
G |
11: 61,593,801 (GRCm39) |
N445S |
possibly damaging |
Het |
Ghr |
C |
T |
15: 3,357,464 (GRCm39) |
C268Y |
probably damaging |
Het |
Gm8444 |
T |
C |
15: 81,727,775 (GRCm39) |
|
probably benign |
Het |
Gp6 |
T |
A |
7: 4,387,988 (GRCm39) |
K160N |
probably benign |
Het |
Grm3 |
T |
C |
5: 9,639,793 (GRCm39) |
Y84C |
possibly damaging |
Het |
Gtf3c2 |
C |
A |
5: 31,325,440 (GRCm39) |
G450C |
probably damaging |
Het |
Icosl |
A |
T |
10: 77,907,787 (GRCm39) |
M116L |
possibly damaging |
Het |
Il31ra |
T |
G |
13: 112,666,890 (GRCm39) |
Y396S |
probably damaging |
Het |
Insig1 |
A |
G |
5: 28,276,464 (GRCm39) |
N10S |
probably benign |
Het |
Kcnh2 |
C |
A |
5: 24,531,568 (GRCm39) |
G448C |
probably damaging |
Het |
L1td1 |
C |
T |
4: 98,621,726 (GRCm39) |
S96L |
possibly damaging |
Het |
Mapre3 |
A |
T |
5: 31,019,168 (GRCm39) |
N4I |
probably damaging |
Het |
Mblac2 |
T |
A |
13: 81,859,860 (GRCm39) |
D70E |
probably benign |
Het |
Mki67 |
T |
A |
7: 135,300,238 (GRCm39) |
K1599* |
probably null |
Het |
Mpg |
A |
G |
11: 32,181,840 (GRCm39) |
I283V |
probably benign |
Het |
Mrtfb |
G |
T |
16: 13,199,440 (GRCm39) |
E98* |
probably null |
Het |
Mybpc1 |
C |
A |
10: 88,381,921 (GRCm39) |
A576S |
probably damaging |
Het |
Myo1h |
T |
G |
5: 114,499,140 (GRCm39) |
V129G |
probably damaging |
Het |
Nars1 |
A |
T |
18: 64,638,099 (GRCm39) |
V285E |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,464,742 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,089,456 (GRCm39) |
D5172G |
probably null |
Het |
Npbwr1 |
T |
A |
1: 5,986,570 (GRCm39) |
S315C |
probably damaging |
Het |
Nyap1 |
T |
C |
5: 137,733,953 (GRCm39) |
H360R |
possibly damaging |
Het |
Nyx |
A |
G |
X: 13,352,974 (GRCm39) |
E276G |
probably damaging |
Het |
Or10ag59 |
T |
A |
2: 87,405,536 (GRCm39) |
M36K |
probably benign |
Het |
Or1e1 |
G |
T |
11: 73,245,518 (GRCm39) |
C313F |
probably benign |
Het |
Or2l13b |
A |
G |
16: 19,349,455 (GRCm39) |
Y72H |
probably benign |
Het |
Or2w6 |
T |
C |
13: 21,842,642 (GRCm39) |
T284A |
possibly damaging |
Het |
Or4c1 |
A |
G |
2: 89,133,160 (GRCm39) |
Y259H |
possibly damaging |
Het |
Or4c118 |
A |
T |
2: 88,975,241 (GRCm39) |
V42E |
probably benign |
Het |
Or5v1b |
C |
T |
17: 37,841,597 (GRCm39) |
S243F |
probably damaging |
Het |
Or7e174 |
A |
T |
9: 20,012,165 (GRCm39) |
M37L |
probably benign |
Het |
Or7g16 |
G |
A |
9: 18,726,801 (GRCm39) |
S263L |
probably benign |
Het |
Or8g23 |
T |
A |
9: 38,971,729 (GRCm39) |
T78S |
probably damaging |
Het |
Paf1 |
C |
A |
7: 28,095,193 (GRCm39) |
|
probably null |
Het |
Pcsk5 |
T |
C |
19: 17,455,280 (GRCm39) |
D1050G |
probably benign |
Het |
Pgap1 |
A |
G |
1: 54,590,220 (GRCm39) |
S73P |
possibly damaging |
Het |
Phtf1 |
G |
A |
3: 103,911,799 (GRCm39) |
|
probably null |
Het |
Pik3c2b |
G |
T |
1: 132,994,282 (GRCm39) |
R82L |
probably damaging |
Het |
Pik3ca |
T |
C |
3: 32,504,206 (GRCm39) |
L632P |
probably damaging |
Het |
Plau |
G |
T |
14: 20,888,760 (GRCm39) |
|
probably null |
Het |
Pld4 |
A |
T |
12: 112,734,923 (GRCm39) |
Q460L |
possibly damaging |
Het |
Prdm2 |
T |
A |
4: 142,858,447 (GRCm39) |
Q1614H |
possibly damaging |
Het |
Ptprq |
C |
T |
10: 107,502,407 (GRCm39) |
G837D |
probably damaging |
Het |
Rad9b |
A |
G |
5: 122,477,842 (GRCm39) |
V178A |
possibly damaging |
Het |
Rfc1 |
G |
T |
5: 65,468,397 (GRCm39) |
Y105* |
probably null |
Het |
Sardh |
G |
A |
2: 27,118,351 (GRCm39) |
R460C |
probably damaging |
Het |
Scn5a |
C |
A |
9: 119,365,546 (GRCm39) |
R367L |
probably damaging |
Het |
Sdcbp |
A |
T |
4: 6,386,536 (GRCm39) |
I137L |
probably benign |
Het |
Shmt2 |
A |
G |
10: 127,355,029 (GRCm39) |
V273A |
probably benign |
Het |
Slc5a9 |
G |
T |
4: 111,737,423 (GRCm39) |
P612H |
probably benign |
Het |
Slitrk4 |
TTGT |
TT |
X: 63,314,294 (GRCm39) |
|
probably null |
Het |
Slitrk4 |
TG |
T |
X: 63,314,295 (GRCm39) |
|
probably null |
Het |
Spata1 |
A |
T |
3: 146,199,438 (GRCm39) |
S9T |
probably benign |
Het |
Syn3 |
T |
C |
10: 85,909,097 (GRCm39) |
T328A |
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,939,546 (GRCm39) |
F501L |
probably damaging |
Het |
Tekt5 |
T |
C |
16: 10,213,070 (GRCm39) |
I72V |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,343,821 (GRCm39) |
S1229P |
possibly damaging |
Het |
Tlr6 |
T |
C |
5: 65,110,748 (GRCm39) |
S720G |
probably damaging |
Het |
Tmem156 |
T |
A |
5: 65,237,294 (GRCm39) |
D87V |
probably damaging |
Het |
Togaram1 |
T |
A |
12: 65,065,914 (GRCm39) |
D1639E |
probably damaging |
Het |
Ucn2 |
A |
G |
9: 108,815,430 (GRCm39) |
K64R |
probably benign |
Het |
Vmn2r57 |
T |
A |
7: 41,098,001 (GRCm39) |
Y22F |
probably benign |
Het |
Vwa1 |
T |
C |
4: 155,855,307 (GRCm39) |
T269A |
probably benign |
Het |
Washc5 |
A |
G |
15: 59,213,004 (GRCm39) |
L892P |
possibly damaging |
Het |
Wdr20 |
T |
C |
12: 110,760,002 (GRCm39) |
V296A |
probably damaging |
Het |
Xxylt1 |
A |
T |
16: 30,869,586 (GRCm39) |
H171Q |
probably damaging |
Het |
Yju2 |
C |
T |
17: 56,271,543 (GRCm39) |
Q155* |
probably null |
Het |
Zfp275 |
A |
G |
X: 72,396,841 (GRCm39) |
T118A |
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 |
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 |
R2154:Abca5
|
UTSW |
11 |
110,183,000 (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'- CAGAACAAGATGCTGCCTGG -3'
(R):5'- CCTTATGGAAATAAAGCACCTTCC -3'
Sequencing Primer
(F):5'- TGCCTGGGCTCTCAACAAG -3'
(R):5'- TGGAAATAAAGCACCTTCCATAACAG -3'
|
Posted On |
2014-08-25 |