Incidental Mutation 'R1870:Abca5'
ID |
210677 |
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 |
039892-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R1870 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 110220043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 8
(V8L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
[ENSMUST00000134721]
|
AlphaFold |
Q8K448 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043961
AA Change: V8L
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000047927 Gene: ENSMUSG00000018800 AA Change: V8L
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: V8L
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000120708 Gene: ENSMUSG00000018800 AA Change: V8L
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134721
AA Change: V8L
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000118328 Gene: ENSMUSG00000018800 AA Change: V8L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
36 |
53 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148984
|
Meta Mutation Damage Score |
0.0866 |
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.1%
|
Validation Efficiency |
97% (96/99) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,242,134 (GRCm39) |
E1332D |
probably benign |
Het |
Abcc8 |
C |
T |
7: 45,773,339 (GRCm39) |
E797K |
probably benign |
Het |
Acd |
C |
A |
8: 106,425,039 (GRCm39) |
|
probably null |
Het |
Adam34l |
A |
T |
8: 44,078,132 (GRCm39) |
Y697* |
probably null |
Het |
Adamts12 |
T |
C |
15: 11,311,240 (GRCm39) |
S1166P |
probably benign |
Het |
Alox12b |
T |
C |
11: 69,049,199 (GRCm39) |
Y83H |
possibly damaging |
Het |
Antxr2 |
A |
T |
5: 98,178,297 (GRCm39) |
S38T |
probably damaging |
Het |
Aox1 |
A |
G |
1: 58,115,262 (GRCm39) |
E749G |
probably damaging |
Het |
Arpc1a |
T |
A |
5: 145,043,901 (GRCm39) |
C344S |
possibly damaging |
Het |
Bcan |
T |
C |
3: 87,902,908 (GRCm39) |
Y290C |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,991,018 (GRCm39) |
S179F |
possibly damaging |
Het |
Catsper3 |
A |
C |
13: 55,953,561 (GRCm39) |
D224A |
probably damaging |
Het |
Ccar2 |
A |
G |
14: 70,377,946 (GRCm39) |
S680P |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,368,703 (GRCm39) |
H1275R |
possibly damaging |
Het |
Ccdc40 |
T |
C |
11: 119,150,730 (GRCm39) |
M1011T |
possibly damaging |
Het |
Cfap46 |
T |
A |
7: 139,263,386 (GRCm39) |
D17V |
probably damaging |
Het |
Csn1s2a |
T |
C |
5: 87,926,058 (GRCm39) |
F45L |
probably benign |
Het |
Cwf19l2 |
T |
G |
9: 3,458,802 (GRCm39) |
N750K |
possibly damaging |
Het |
Cyb5r4 |
A |
G |
9: 86,922,462 (GRCm39) |
D157G |
probably benign |
Het |
D130040H23Rik |
T |
A |
8: 69,755,354 (GRCm39) |
I253N |
probably benign |
Het |
Dennd4a |
C |
T |
9: 64,804,516 (GRCm39) |
A1285V |
probably benign |
Het |
Dlat |
A |
G |
9: 50,548,874 (GRCm39) |
S561P |
probably damaging |
Het |
Dlgap2 |
T |
A |
8: 14,823,347 (GRCm39) |
V522E |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,331,859 (GRCm39) |
Y2148* |
probably null |
Het |
Dnase2a |
T |
C |
8: 85,635,392 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
A |
G |
5: 9,468,007 (GRCm39) |
E225G |
probably damaging |
Het |
Fam83f |
T |
C |
15: 80,574,113 (GRCm39) |
|
probably benign |
Het |
Firrm |
G |
A |
1: 163,792,363 (GRCm39) |
L545F |
probably damaging |
Het |
Foxi1 |
A |
T |
11: 34,157,937 (GRCm39) |
N29K |
possibly damaging |
Het |
Galk2 |
T |
C |
2: 125,817,183 (GRCm39) |
L324P |
probably benign |
Het |
Gdpd4 |
G |
A |
7: 97,622,162 (GRCm39) |
V214I |
probably benign |
Het |
Gfra3 |
C |
T |
18: 34,844,373 (GRCm39) |
A56T |
probably damaging |
Het |
Glyctk |
A |
G |
9: 106,032,547 (GRCm39) |
S489P |
probably damaging |
Het |
Izumo4 |
A |
T |
10: 80,539,569 (GRCm39) |
I135F |
probably damaging |
Het |
Krt87 |
T |
A |
15: 101,385,071 (GRCm39) |
T342S |
probably benign |
Het |
L1td1 |
T |
A |
4: 98,625,714 (GRCm39) |
D636E |
possibly damaging |
Het |
Letm2 |
A |
G |
8: 26,086,460 (GRCm39) |
|
probably benign |
Het |
Lpin1 |
A |
G |
12: 16,591,744 (GRCm39) |
F828L |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,511,431 (GRCm39) |
D179G |
unknown |
Het |
Mdn1 |
T |
A |
4: 32,763,339 (GRCm39) |
D5146E |
probably damaging |
Het |
Megf10 |
T |
A |
18: 57,324,257 (GRCm39) |
Y99* |
probably null |
Het |
Men1 |
A |
G |
19: 6,387,660 (GRCm39) |
D285G |
probably damaging |
Het |
Mertk |
T |
G |
2: 128,643,116 (GRCm39) |
D838E |
probably benign |
Het |
Mta1 |
T |
C |
12: 113,091,694 (GRCm39) |
S266P |
possibly damaging |
Het |
Mta3 |
G |
A |
17: 84,089,397 (GRCm39) |
V320M |
probably damaging |
Het |
Nlrp9c |
G |
A |
7: 26,084,245 (GRCm39) |
Q445* |
probably null |
Het |
Or2m12 |
A |
T |
16: 19,105,357 (GRCm39) |
N45K |
probably damaging |
Het |
Or51e1 |
T |
C |
7: 102,358,961 (GRCm39) |
I165T |
possibly damaging |
Het |
Or8b38 |
A |
T |
9: 37,972,646 (GRCm39) |
K10I |
probably benign |
Het |
Or8d6 |
T |
G |
9: 39,854,117 (GRCm39) |
I187R |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,828,132 (GRCm39) |
L1320I |
probably damaging |
Het |
Pdzd2 |
G |
T |
15: 12,457,972 (GRCm39) |
T297K |
probably damaging |
Het |
Pfas |
T |
C |
11: 68,882,795 (GRCm39) |
D782G |
probably damaging |
Het |
Pik3c3 |
T |
C |
18: 30,426,185 (GRCm39) |
|
probably null |
Het |
Pira2 |
T |
C |
7: 3,847,452 (GRCm39) |
N79S |
probably damaging |
Het |
Pkdrej |
G |
T |
15: 85,700,632 (GRCm39) |
T1768K |
probably damaging |
Het |
Plcb3 |
T |
C |
19: 6,940,353 (GRCm39) |
I439V |
probably benign |
Het |
Pold4 |
T |
A |
19: 4,282,593 (GRCm39) |
Y58* |
probably null |
Het |
Ppef2 |
T |
G |
5: 92,398,371 (GRCm39) |
Q49P |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,723,817 (GRCm39) |
I2026F |
possibly damaging |
Het |
Rest |
T |
A |
5: 77,416,209 (GRCm39) |
V141E |
possibly damaging |
Het |
Rnf139 |
T |
C |
15: 58,771,202 (GRCm39) |
V409A |
probably benign |
Het |
Rnpc3 |
T |
C |
3: 113,404,704 (GRCm39) |
|
probably benign |
Het |
S100a10 |
A |
T |
3: 93,468,377 (GRCm39) |
E36V |
probably benign |
Het |
S1pr3 |
A |
C |
13: 51,573,952 (GRCm39) |
K378Q |
probably benign |
Het |
Scaper |
T |
A |
9: 55,593,222 (GRCm39) |
I472F |
probably damaging |
Het |
Sgcg |
G |
A |
14: 61,477,896 (GRCm39) |
|
probably benign |
Het |
Shank1 |
A |
T |
7: 43,991,539 (GRCm39) |
R69* |
probably null |
Het |
Shoc1 |
G |
A |
4: 59,054,142 (GRCm39) |
|
probably benign |
Het |
Siglecf |
A |
G |
7: 43,004,967 (GRCm39) |
N399S |
probably benign |
Het |
Slc25a54 |
T |
A |
3: 108,987,932 (GRCm39) |
Y24* |
probably null |
Het |
Slc29a4 |
T |
C |
5: 142,707,243 (GRCm39) |
*529R |
probably null |
Het |
Slc41a2 |
G |
A |
10: 83,137,029 (GRCm39) |
Q293* |
probably null |
Het |
Slc4a7 |
T |
C |
14: 14,737,509 (GRCm38) |
|
probably null |
Het |
Slfn9 |
G |
T |
11: 82,872,402 (GRCm39) |
T778N |
probably benign |
Het |
Ssr2 |
T |
C |
3: 88,483,949 (GRCm39) |
|
probably benign |
Het |
Tecrl |
T |
A |
5: 83,502,706 (GRCm39) |
T33S |
probably benign |
Het |
Tnfrsf9 |
T |
A |
4: 151,018,804 (GRCm39) |
C158* |
probably null |
Het |
Tradd |
T |
C |
8: 105,985,792 (GRCm39) |
E253G |
possibly damaging |
Het |
Usp34 |
A |
G |
11: 23,314,479 (GRCm39) |
H807R |
probably benign |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r27 |
T |
C |
6: 124,201,170 (GRCm39) |
I262M |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,737,316 (GRCm39) |
V91A |
probably damaging |
Het |
Vwf |
C |
T |
6: 125,619,902 (GRCm39) |
R1527C |
probably damaging |
Het |
Wwc1 |
C |
T |
11: 35,752,772 (GRCm39) |
G763D |
probably damaging |
Het |
Zfp526 |
T |
G |
7: 24,924,594 (GRCm39) |
D284E |
possibly damaging |
Het |
Zfp646 |
T |
C |
7: 127,483,021 (GRCm39) |
F1733L |
possibly damaging |
Het |
Zfp90 |
A |
G |
8: 107,145,755 (GRCm39) |
H29R |
probably benign |
Het |
Zkscan4 |
A |
G |
13: 21,668,104 (GRCm39) |
E185G |
probably benign |
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 |
|
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 |
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'- GCTATCAGATCTCGCTATCATAACC -3'
(R):5'- ATCTGAGAGATGGCTTGTAGC -3'
Sequencing Primer
(F):5'- GAGCTGTCTCTTAAAAGTAGAACAC -3'
(R):5'- AGCATGCTTAACTTCATTTTACCTGG -3'
|
Posted On |
2014-06-30 |