Incidental Mutation 'R5004:Abca5'
| ID |
390086 |
| 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 |
042597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R5004 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 110170202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 1298
(E1298K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
|
| AlphaFold |
Q8K448 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043961
AA Change: E1298K
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: E1298K
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
A |
C |
8: 13,605,927 (GRCm39) |
D189E |
possibly damaging |
Het |
| Actg1 |
C |
A |
11: 120,238,986 (GRCm39) |
|
probably benign |
Het |
| Add2 |
A |
G |
6: 86,073,728 (GRCm39) |
T206A |
probably benign |
Het |
| Alox12e |
A |
G |
11: 70,212,330 (GRCm39) |
V116A |
probably benign |
Het |
| Ankrd27 |
T |
A |
7: 35,307,800 (GRCm39) |
D346E |
probably damaging |
Het |
| Arfgap3 |
T |
A |
15: 83,194,497 (GRCm39) |
S391C |
possibly damaging |
Het |
| Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
| Cars2 |
C |
T |
8: 11,568,956 (GRCm39) |
|
probably null |
Het |
| Cav3 |
A |
G |
6: 112,436,885 (GRCm39) |
K38R |
probably damaging |
Het |
| Ccdc159 |
G |
A |
9: 21,844,241 (GRCm39) |
R101H |
probably damaging |
Het |
| Cops7b |
A |
G |
1: 86,515,132 (GRCm39) |
|
probably benign |
Het |
| Cyp4a12b |
C |
T |
4: 115,295,310 (GRCm39) |
T472I |
probably benign |
Het |
| Cyp4a32 |
T |
C |
4: 115,458,238 (GRCm39) |
S23P |
probably damaging |
Het |
| Cyp4f13 |
T |
G |
17: 33,144,760 (GRCm39) |
I275L |
probably benign |
Het |
| Dlgap1 |
T |
A |
17: 71,025,222 (GRCm39) |
|
probably null |
Het |
| Dnajc12 |
A |
T |
10: 63,222,486 (GRCm39) |
I4L |
probably benign |
Het |
| Ephb2 |
T |
A |
4: 136,387,010 (GRCm39) |
D739V |
possibly damaging |
Het |
| Fam169a |
A |
G |
13: 97,234,100 (GRCm39) |
Y124C |
probably damaging |
Het |
| Fbln5 |
T |
A |
12: 101,727,080 (GRCm39) |
N303I |
probably damaging |
Het |
| Fdxr |
T |
C |
11: 115,160,399 (GRCm39) |
E352G |
probably benign |
Het |
| Fhad1 |
T |
G |
4: 141,729,910 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
C |
T |
8: 106,063,577 (GRCm39) |
|
probably benign |
Het |
| Fndc7 |
G |
A |
3: 108,790,789 (GRCm39) |
T79M |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,357,069 (GRCm39) |
Q1872R |
probably benign |
Het |
| Gbx1 |
T |
C |
5: 24,709,837 (GRCm39) |
H336R |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gpr15lg |
A |
T |
14: 36,824,622 (GRCm39) |
C60S |
probably damaging |
Het |
| Hacl1 |
C |
A |
14: 31,340,996 (GRCm39) |
C346F |
probably benign |
Het |
| Hectd4 |
C |
A |
5: 121,466,262 (GRCm39) |
|
probably null |
Het |
| Hectd4 |
C |
T |
5: 121,467,628 (GRCm39) |
P2526S |
possibly damaging |
Het |
| Il3ra |
A |
T |
14: 14,355,381 (GRCm38) |
E289D |
probably benign |
Het |
| Itih4 |
T |
G |
14: 30,614,629 (GRCm39) |
L497R |
probably damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,124,383 (GRCm39) |
K91* |
probably null |
Het |
| Kiz |
C |
G |
2: 146,811,899 (GRCm39) |
D669E |
possibly damaging |
Het |
| Klhl30 |
T |
A |
1: 91,287,046 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
C |
A |
7: 139,512,792 (GRCm39) |
C1514* |
probably null |
Het |
| Lipo2 |
A |
G |
19: 33,699,076 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,279,268 (GRCm39) |
D5921G |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,478,537 (GRCm39) |
Y394H |
probably damaging |
Het |
| Mctp1 |
T |
A |
13: 76,789,923 (GRCm39) |
S50R |
possibly damaging |
Het |
| Mllt10 |
T |
C |
2: 18,175,079 (GRCm39) |
Y3H |
probably damaging |
Het |
| Mon1b |
T |
C |
8: 114,365,859 (GRCm39) |
S396P |
probably damaging |
Het |
| Mrgpra4 |
A |
C |
7: 47,631,535 (GRCm39) |
L22R |
probably benign |
Het |
| Msln |
T |
G |
17: 25,973,193 (GRCm39) |
M1L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,952,411 (GRCm39) |
I827N |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,209,140 (GRCm39) |
D1866G |
probably damaging |
Het |
| Myo5b |
T |
G |
18: 74,877,844 (GRCm39) |
|
probably null |
Het |
| Nlrc5 |
T |
G |
8: 95,247,844 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
A |
T |
3: 90,087,472 (GRCm39) |
R1082* |
probably null |
Het |
| Or12k7 |
A |
G |
2: 36,958,422 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or4f4b |
G |
A |
2: 111,314,005 (GRCm39) |
V105I |
possibly damaging |
Het |
| Or5p63 |
T |
A |
7: 107,811,323 (GRCm39) |
K138* |
probably null |
Het |
| Or7e169 |
T |
C |
9: 19,757,398 (GRCm39) |
I172M |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,195,033 (GRCm39) |
C122S |
probably damaging |
Het |
| Pkd2l1 |
G |
T |
19: 44,138,016 (GRCm39) |
A690E |
probably benign |
Het |
| Pramel22 |
T |
C |
4: 143,380,706 (GRCm39) |
Q439R |
probably benign |
Het |
| Prickle2 |
A |
T |
6: 92,393,736 (GRCm39) |
D312E |
probably benign |
Het |
| Prrc2a |
T |
A |
17: 35,368,974 (GRCm39) |
N2021Y |
probably benign |
Het |
| Prss3 |
T |
C |
6: 41,350,836 (GRCm39) |
Y218C |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,414,837 (GRCm39) |
T350A |
probably damaging |
Het |
| Ptprg |
A |
T |
14: 12,220,667 (GRCm38) |
I1235F |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,462,059 (GRCm39) |
D1181E |
possibly damaging |
Het |
| Rcc2 |
T |
A |
4: 140,444,977 (GRCm39) |
S415T |
possibly damaging |
Het |
| Ripor1 |
CAA |
CA |
8: 106,345,452 (GRCm39) |
|
probably null |
Het |
| Rnf31 |
T |
C |
14: 55,829,639 (GRCm39) |
L68P |
probably damaging |
Het |
| Rsph6a |
A |
T |
7: 18,791,665 (GRCm39) |
E278V |
possibly damaging |
Het |
| Rubcnl |
C |
T |
14: 75,269,617 (GRCm39) |
Q92* |
probably null |
Het |
| Scfd1 |
A |
G |
12: 51,491,777 (GRCm39) |
R580G |
probably benign |
Het |
| Sec31a |
A |
T |
5: 100,516,192 (GRCm39) |
N967K |
probably damaging |
Het |
| Sema4b |
C |
A |
7: 79,866,093 (GRCm39) |
T154N |
probably benign |
Het |
| Septin14 |
T |
A |
5: 129,770,040 (GRCm39) |
I219F |
possibly damaging |
Het |
| Serpinb9c |
A |
T |
13: 33,334,338 (GRCm39) |
S235T |
probably benign |
Het |
| Setd4 |
G |
T |
16: 93,388,133 (GRCm39) |
H118N |
probably benign |
Het |
| Siglec1 |
C |
T |
2: 130,911,789 (GRCm39) |
V1697M |
probably benign |
Het |
| Siglec1 |
A |
T |
2: 130,915,331 (GRCm39) |
L1420Q |
possibly damaging |
Het |
| Soat2 |
T |
A |
15: 102,069,546 (GRCm39) |
H402Q |
probably damaging |
Het |
| Sp3 |
A |
T |
2: 72,768,633 (GRCm39) |
V666D |
probably benign |
Het |
| Spef2 |
T |
G |
15: 9,578,413 (GRCm39) |
S1704R |
probably benign |
Het |
| Spidr |
A |
T |
16: 15,936,806 (GRCm39) |
W100R |
possibly damaging |
Het |
| Steap1 |
G |
T |
5: 5,792,829 (GRCm39) |
Y27* |
probably null |
Het |
| Svep1 |
G |
T |
4: 58,087,751 (GRCm39) |
T1776K |
probably benign |
Het |
| Tdpoz1 |
T |
A |
3: 93,578,440 (GRCm39) |
T115S |
probably benign |
Het |
| Tet2 |
A |
T |
3: 133,193,140 (GRCm39) |
H431Q |
possibly damaging |
Het |
| Tnrc6c |
T |
G |
11: 117,611,872 (GRCm39) |
V170G |
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,778,630 (GRCm39) |
L99P |
probably damaging |
Het |
| Trim11 |
C |
A |
11: 58,872,164 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
C |
15: 27,755,264 (GRCm39) |
K955R |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,452,146 (GRCm39) |
T371I |
probably damaging |
Het |
| Usp17lb |
C |
T |
7: 104,490,884 (GRCm39) |
M13I |
probably benign |
Het |
| Usp29 |
A |
G |
7: 6,965,158 (GRCm39) |
M334V |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,414,586 (GRCm39) |
Y2843C |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,584,135 (GRCm39) |
I2674N |
probably damaging |
Het |
| Vmn2r14 |
T |
G |
5: 109,368,246 (GRCm39) |
T249P |
probably benign |
Het |
| Vmn2r43 |
A |
T |
7: 8,247,848 (GRCm39) |
F772I |
probably damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,821,932 (GRCm39) |
E584D |
probably benign |
Het |
| Zbtb22 |
G |
T |
17: 34,136,217 (GRCm39) |
A121S |
probably benign |
Het |
| Zfp273 |
A |
T |
13: 67,973,673 (GRCm39) |
H267L |
probably damaging |
Het |
| Zkscan2 |
C |
T |
7: 123,089,267 (GRCm39) |
V335M |
probably 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 |
|
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 |
|
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'- GCTCCATTTGGACCCAACAG -3'
(R):5'- TTACCAAGGCACTGGAATGAAG -3'
Sequencing Primer
(F):5'- CAAGATCTCTCCTACAGATATGGG -3'
(R):5'- AATGAAGAAGAAACACTTTTTATCGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation