Incidental Mutation 'R7084:Abca5'
ID |
549774 |
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 |
045178-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R7084 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 110192371 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 714
(I714L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
|
AlphaFold |
Q8K448 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043961
AA Change: I714L
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000047927 Gene: ENSMUSG00000018800 AA Change: I714L
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: I714L
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000120708 Gene: ENSMUSG00000018800 AA Change: I714L
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 |
|
Meta Mutation Damage Score |
0.0866 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (81/82) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
A |
T |
13: 119,624,721 (GRCm39) |
D8E |
unknown |
Het |
Abce1 |
T |
A |
8: 80,426,043 (GRCm39) |
S245C |
probably benign |
Het |
Abcg1 |
T |
A |
17: 31,325,105 (GRCm39) |
D310E |
probably benign |
Het |
Adhfe1 |
T |
A |
1: 9,637,030 (GRCm39) |
I394N |
probably benign |
Het |
Apob |
A |
T |
12: 8,059,591 (GRCm39) |
D2691V |
probably benign |
Het |
Arhgap18 |
A |
G |
10: 26,748,734 (GRCm39) |
T340A |
possibly damaging |
Het |
Arsb |
A |
T |
13: 94,077,124 (GRCm39) |
Q497L |
probably benign |
Het |
Asic5 |
T |
C |
3: 81,919,318 (GRCm39) |
I354T |
probably benign |
Het |
Atp6v0a1 |
T |
C |
11: 100,924,868 (GRCm39) |
C318R |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,226,137 (GRCm39) |
Y362H |
probably benign |
Het |
Crip3 |
T |
C |
17: 46,741,716 (GRCm39) |
Y113H |
probably benign |
Het |
Dcaf4 |
AT |
A |
12: 83,584,571 (GRCm39) |
|
probably null |
Het |
Dock10 |
T |
A |
1: 80,481,573 (GRCm39) |
I475F |
|
Het |
Dqx1 |
T |
A |
6: 83,043,436 (GRCm39) |
Y674N |
probably damaging |
Het |
Dync2h1 |
G |
T |
9: 7,113,214 (GRCm39) |
Q2437K |
possibly damaging |
Het |
Ednra |
A |
T |
8: 78,391,734 (GRCm39) |
C385* |
probably null |
Het |
Fam216a |
G |
A |
5: 122,507,623 (GRCm39) |
T68I |
probably benign |
Het |
Fbxw22 |
A |
G |
9: 109,233,291 (GRCm39) |
L14P |
probably damaging |
Het |
Fem1al |
G |
T |
11: 29,775,009 (GRCm39) |
H149Q |
probably damaging |
Het |
Fkbp10 |
A |
G |
11: 100,312,129 (GRCm39) |
I230V |
possibly damaging |
Het |
Ggn |
C |
A |
7: 28,872,423 (GRCm39) |
A637E |
probably damaging |
Het |
Hcrtr2 |
T |
C |
9: 76,137,942 (GRCm39) |
D391G |
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,117,992 (GRCm39) |
V817D |
possibly damaging |
Het |
Il1f10 |
G |
A |
2: 24,183,682 (GRCm39) |
W120* |
probably null |
Het |
Irf5 |
C |
A |
6: 29,535,876 (GRCm39) |
R297S |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,263,798 (GRCm39) |
T438A |
possibly damaging |
Het |
Jsrp1 |
T |
C |
10: 80,644,410 (GRCm39) |
D332G |
possibly damaging |
Het |
Kank4 |
A |
T |
4: 98,659,582 (GRCm39) |
V832D |
probably damaging |
Het |
Kcnip3 |
C |
T |
2: 127,352,856 (GRCm39) |
S25N |
probably benign |
Het |
Klk1b16 |
C |
T |
7: 43,788,910 (GRCm39) |
H48Y |
probably benign |
Het |
Klrh1 |
C |
A |
6: 129,743,673 (GRCm39) |
A204S |
possibly damaging |
Het |
Krtap5-4 |
G |
A |
7: 141,857,609 (GRCm39) |
C93Y |
unknown |
Het |
Lacc1 |
T |
A |
14: 77,267,096 (GRCm39) |
Q389L |
probably benign |
Het |
Lin9 |
C |
A |
1: 180,515,661 (GRCm39) |
T477K |
probably benign |
Het |
Lpar2 |
A |
T |
8: 70,276,256 (GRCm39) |
N15I |
probably damaging |
Het |
Ltbp2 |
C |
A |
12: 84,915,459 (GRCm39) |
C200F |
probably damaging |
Het |
Mall |
G |
T |
2: 127,550,793 (GRCm39) |
H122Q |
probably benign |
Het |
Mast3 |
T |
C |
8: 71,232,117 (GRCm39) |
I1287V |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,255,220 (GRCm39) |
I566T |
probably benign |
Het |
Mme |
T |
C |
3: 63,235,638 (GRCm39) |
Y195H |
probably damaging |
Het |
Mpzl1 |
T |
C |
1: 165,432,267 (GRCm39) |
T173A |
probably benign |
Het |
Mri1 |
G |
T |
8: 84,977,708 (GRCm39) |
T209N |
|
Het |
Myo1e |
A |
G |
9: 70,245,083 (GRCm39) |
I394V |
probably damaging |
Het |
Nat14 |
T |
C |
7: 4,927,329 (GRCm39) |
V167A |
possibly damaging |
Het |
Nfasc |
A |
G |
1: 132,498,247 (GRCm39) |
Y1212H |
unknown |
Het |
Nsun7 |
T |
A |
5: 66,452,764 (GRCm39) |
L493Q |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,464,394 (GRCm39) |
S1637R |
probably benign |
Het |
Ocstamp |
A |
T |
2: 165,239,957 (GRCm39) |
Y76* |
probably null |
Het |
Or5b95 |
A |
C |
19: 12,658,198 (GRCm39) |
H242P |
probably damaging |
Het |
Or6c2b |
T |
A |
10: 128,947,416 (GRCm39) |
K293* |
probably null |
Het |
Or8b52 |
G |
A |
9: 38,576,565 (GRCm39) |
R192C |
probably benign |
Het |
Otog |
T |
A |
7: 45,947,990 (GRCm39) |
C145* |
probably null |
Het |
Padi6 |
T |
A |
4: 140,468,869 (GRCm39) |
K5* |
probably null |
Het |
Pcdha5 |
T |
A |
18: 37,094,615 (GRCm39) |
S375T |
probably benign |
Het |
Pde10a |
C |
T |
17: 9,159,994 (GRCm39) |
P140S |
probably benign |
Het |
Pgbd1 |
C |
G |
13: 21,607,300 (GRCm39) |
C298S |
possibly damaging |
Het |
Plch2 |
C |
T |
4: 155,071,448 (GRCm39) |
G977D |
probably benign |
Het |
Pou2f3 |
T |
C |
9: 43,040,188 (GRCm39) |
T367A |
probably damaging |
Het |
Ppm1j |
T |
A |
3: 104,692,276 (GRCm39) |
Y352N |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,226,967 (GRCm39) |
T97A |
probably benign |
Het |
Rpl36a-ps1 |
T |
A |
14: 99,231,660 (GRCm39) |
Y26F |
probably benign |
Het |
Sctr |
A |
T |
1: 119,991,001 (GRCm39) |
N445Y |
possibly damaging |
Het |
Serping1 |
C |
T |
2: 84,603,835 (GRCm39) |
V69I |
probably benign |
Het |
Slc8a2 |
T |
A |
7: 15,878,963 (GRCm39) |
L483Q |
probably benign |
Het |
Spag17 |
T |
C |
3: 99,846,586 (GRCm39) |
F37L |
probably benign |
Het |
Srrm2 |
T |
A |
17: 24,039,290 (GRCm39) |
M1978K |
probably damaging |
Het |
Tcp11 |
T |
C |
17: 28,285,995 (GRCm39) |
Q540R |
probably benign |
Het |
Thnsl1 |
G |
T |
2: 21,217,141 (GRCm39) |
R298S |
possibly damaging |
Het |
Tigd5 |
T |
A |
15: 75,782,230 (GRCm39) |
Y197* |
probably null |
Het |
Tmprss11g |
A |
T |
5: 86,640,059 (GRCm39) |
L203Q |
probably damaging |
Het |
Trim35 |
T |
A |
14: 66,546,271 (GRCm39) |
V346E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,598,708 (GRCm39) |
I19402V |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,749,689 (GRCm39) |
E3787K |
probably benign |
Het |
Tut1 |
G |
A |
19: 8,942,778 (GRCm39) |
V622I |
probably benign |
Het |
Vmn1r2 |
A |
G |
4: 3,172,134 (GRCm39) |
I18V |
probably benign |
Het |
Zbbx |
T |
C |
3: 75,046,853 (GRCm39) |
N22S |
possibly damaging |
Het |
Zfp169 |
A |
C |
13: 48,652,339 (GRCm39) |
M26R |
probably benign |
Het |
Zfp180 |
T |
A |
7: 23,804,686 (GRCm39) |
H368Q |
probably damaging |
Het |
Zfp638 |
T |
A |
6: 83,930,108 (GRCm39) |
S770T |
possibly damaging |
Het |
Znrf1 |
T |
C |
8: 112,263,774 (GRCm39) |
M1T |
probably null |
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 |
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 |
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'- CACCTGGGACTATTACAGAGAG -3'
(R):5'- AACACTTGTTCTCCTGGGCC -3'
Sequencing Primer
(F):5'- TGGGACTATTACAGAGAGAAGTAATC -3'
(R):5'- CCTGGGCCCTTAGTCTGTG -3'
|
Posted On |
2019-05-15 |