Incidental Mutation 'R7763:Abca5'
| ID |
598053 |
| 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 |
045819-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R7763 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110163323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1631
(W1631R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
|
| AlphaFold |
Q8K448 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043961
AA Change: W1631R
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: W1631R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 111 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,113,825 (GRCm39) |
W899R |
probably damaging |
Het |
| Actg2 |
T |
A |
6: 83,504,350 (GRCm39) |
D25V |
probably damaging |
Het |
| Akap10 |
G |
C |
11: 61,806,331 (GRCm39) |
D132E |
probably damaging |
Het |
| Angptl2 |
G |
T |
2: 33,132,394 (GRCm39) |
E334* |
probably null |
Het |
| Aprt |
T |
C |
8: 123,301,674 (GRCm39) |
R165G |
probably benign |
Het |
| Bmp1 |
A |
G |
14: 70,729,524 (GRCm39) |
F549S |
probably damaging |
Het |
| Capzb |
C |
T |
4: 139,007,864 (GRCm39) |
T215I |
probably benign |
Het |
| Car14 |
C |
T |
3: 95,811,684 (GRCm39) |
M1I |
probably null |
Het |
| Ccdc148 |
T |
A |
2: 58,713,648 (GRCm39) |
Q501L |
probably benign |
Het |
| Ccdc32 |
G |
A |
2: 118,857,828 (GRCm39) |
T12I |
probably damaging |
Het |
| Ccnf |
G |
A |
17: 24,443,986 (GRCm39) |
S594L |
probably damaging |
Het |
| Cdadc1 |
C |
T |
14: 59,811,283 (GRCm39) |
C409Y |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,148,356 (GRCm39) |
S2670R |
probably damaging |
Het |
| Cdh8 |
T |
A |
8: 100,006,306 (GRCm39) |
K94* |
probably null |
Het |
| Cdhr2 |
A |
T |
13: 54,865,505 (GRCm39) |
Y193F |
probably damaging |
Het |
| Cdon |
T |
A |
9: 35,365,711 (GRCm39) |
Y153* |
probably null |
Het |
| Chd1 |
G |
A |
17: 15,953,303 (GRCm39) |
G413R |
probably damaging |
Het |
| Cit |
A |
T |
5: 116,125,060 (GRCm39) |
T1582S |
probably benign |
Het |
| Clec4a3 |
T |
C |
6: 122,941,299 (GRCm39) |
L98P |
probably benign |
Het |
| Cpa4 |
T |
A |
6: 30,583,644 (GRCm39) |
D253E |
probably damaging |
Het |
| Cyp2c40 |
T |
A |
19: 39,795,612 (GRCm39) |
N189I |
possibly damaging |
Het |
| Daam2 |
G |
T |
17: 49,797,050 (GRCm39) |
A245E |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,970,156 (GRCm39) |
F121S |
probably damaging |
Het |
| Dgkd |
A |
G |
1: 87,854,671 (GRCm39) |
T658A |
probably benign |
Het |
| Dmwd |
T |
A |
7: 18,814,265 (GRCm39) |
L305Q |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,314,001 (GRCm39) |
Y1939F |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,058,776 (GRCm39) |
T512A |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,552,402 (GRCm39) |
D398E |
probably benign |
Het |
| Eef1akmt4 |
A |
G |
16: 20,437,279 (GRCm39) |
H207R |
probably damaging |
Het |
| Egfr |
T |
C |
11: 16,841,266 (GRCm39) |
V719A |
probably damaging |
Het |
| Ep300 |
A |
T |
15: 81,470,784 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
A |
G |
1: 77,366,668 (GRCm39) |
|
probably null |
Het |
| Erc2 |
T |
G |
14: 27,598,161 (GRCm39) |
|
probably null |
Het |
| Ergic1 |
A |
T |
17: 26,857,801 (GRCm39) |
Y209F |
possibly damaging |
Het |
| Fbxw28 |
A |
G |
9: 109,155,701 (GRCm39) |
I357T |
probably damaging |
Het |
| Flnb |
A |
T |
14: 7,926,478 (GRCm38) |
T1841S |
probably benign |
Het |
| Foxc1 |
G |
A |
13: 31,992,011 (GRCm39) |
S274N |
probably benign |
Het |
| Fto |
C |
T |
8: 92,136,071 (GRCm39) |
T115M |
probably damaging |
Het |
| Gm10228 |
C |
G |
16: 88,838,187 (GRCm39) |
C39S |
unknown |
Het |
| Gm7334 |
T |
C |
17: 51,005,743 (GRCm39) |
F10L |
possibly damaging |
Het |
| Hfm1 |
A |
G |
5: 107,029,727 (GRCm39) |
Y785H |
probably damaging |
Het |
| Hivep1 |
T |
A |
13: 42,312,937 (GRCm39) |
S1726T |
probably benign |
Het |
| Htt |
G |
T |
5: 35,009,534 (GRCm39) |
C1505F |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,232,475 (GRCm39) |
S1665P |
possibly damaging |
Het |
| Ifi209 |
T |
A |
1: 173,470,445 (GRCm39) |
N344K |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,196,181 (GRCm39) |
M262T |
probably benign |
Het |
| Ighv7-3 |
T |
A |
12: 114,116,827 (GRCm39) |
S112C |
probably damaging |
Het |
| Igkv4-86 |
A |
G |
6: 68,887,563 (GRCm39) |
S59P |
probably benign |
Het |
| Iglv1 |
A |
G |
16: 18,904,239 (GRCm39) |
|
probably benign |
Het |
| Ipo7 |
T |
A |
7: 109,652,006 (GRCm39) |
D928E |
possibly damaging |
Het |
| Itgae |
G |
T |
11: 73,014,095 (GRCm39) |
|
probably null |
Het |
| Kbtbd12 |
T |
A |
6: 88,595,179 (GRCm39) |
Q217L |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,350,074 (GRCm39) |
Y1155F |
possibly damaging |
Het |
| Kif14 |
A |
G |
1: 136,444,121 (GRCm39) |
E1371G |
probably benign |
Het |
| Lilrb4a |
A |
T |
10: 51,367,142 (GRCm39) |
Y10F |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,333,732 (GRCm39) |
V1503E |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,747,799 (GRCm39) |
D355E |
probably benign |
Het |
| Mri1 |
T |
C |
8: 84,977,657 (GRCm39) |
H226R |
|
Het |
| Mroh4 |
C |
T |
15: 74,496,554 (GRCm39) |
E278K |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,574,739 (GRCm39) |
L1063H |
probably benign |
Het |
| Mzf1 |
A |
T |
7: 12,778,018 (GRCm39) |
I541N |
probably damaging |
Het |
| Nasp |
T |
A |
4: 116,469,230 (GRCm39) |
E116D |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,525,033 (GRCm39) |
E149V |
probably damaging |
Het |
| Notch4 |
G |
A |
17: 34,801,392 (GRCm39) |
C1080Y |
probably damaging |
Het |
| Nova1 |
T |
G |
12: 46,767,481 (GRCm39) |
I147L |
unknown |
Het |
| Ogdh |
A |
G |
11: 6,288,558 (GRCm39) |
M223V |
probably benign |
Het |
| Or2a56 |
T |
C |
6: 42,932,723 (GRCm39) |
I97T |
probably benign |
Het |
| Or2y1e |
G |
T |
11: 49,218,498 (GRCm39) |
A87S |
probably benign |
Het |
| Or4n4 |
A |
T |
14: 50,518,945 (GRCm39) |
I255N |
probably damaging |
Het |
| Or6c66b |
G |
T |
10: 129,377,324 (GRCm39) |
R306L |
probably benign |
Het |
| P3h3 |
T |
C |
6: 124,831,395 (GRCm39) |
Q330R |
probably benign |
Het |
| Pcdhb10 |
A |
G |
18: 37,544,935 (GRCm39) |
T4A |
not run |
Het |
| Pkd2l2 |
A |
T |
18: 34,566,340 (GRCm39) |
|
probably null |
Het |
| Plekhb1 |
C |
T |
7: 100,294,870 (GRCm39) |
V168I |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,200,915 (GRCm39) |
R753H |
probably damaging |
Het |
| Pramel17 |
T |
C |
4: 101,694,338 (GRCm39) |
I182V |
possibly damaging |
Het |
| Prex1 |
G |
C |
2: 166,555,629 (GRCm39) |
P4A |
unknown |
Het |
| Ptgdr |
A |
G |
14: 45,096,535 (GRCm39) |
V59A |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,804,740 (GRCm39) |
I519F |
probably benign |
Het |
| Rbpms |
A |
G |
8: 34,279,481 (GRCm39) |
I170T |
probably benign |
Het |
| Sec31b |
T |
A |
19: 44,512,274 (GRCm39) |
|
probably null |
Het |
| Skint11 |
A |
T |
4: 114,084,905 (GRCm39) |
Y138F |
probably benign |
Het |
| Slain2 |
A |
G |
5: 73,105,953 (GRCm39) |
Y196C |
probably damaging |
Het |
| Slco1b2 |
T |
A |
6: 141,621,950 (GRCm39) |
C503* |
probably null |
Het |
| Slfn3 |
A |
T |
11: 83,105,614 (GRCm39) |
Y537F |
possibly damaging |
Het |
| Slu7 |
T |
C |
11: 43,335,592 (GRCm39) |
Y443H |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,955,205 (GRCm39) |
E683D |
probably damaging |
Het |
| Sos1 |
T |
A |
17: 80,721,142 (GRCm39) |
I893L |
probably benign |
Het |
| St8sia2 |
T |
A |
7: 73,593,069 (GRCm39) |
Y329F |
probably damaging |
Het |
| Stra6l |
C |
A |
4: 45,869,570 (GRCm39) |
S212* |
probably null |
Het |
| Syne3 |
C |
T |
12: 104,963,754 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
A |
7: 96,544,899 (GRCm39) |
I2342N |
probably benign |
Het |
| Tescl |
T |
A |
7: 24,032,688 (GRCm39) |
E212D |
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,811,114 (GRCm39) |
S1879P |
probably benign |
Het |
| Ube2c |
A |
T |
2: 164,613,211 (GRCm39) |
|
probably null |
Het |
| Umodl1 |
T |
A |
17: 31,205,430 (GRCm39) |
I675N |
probably benign |
Het |
| Vipr2 |
T |
C |
12: 116,086,338 (GRCm39) |
F121S |
probably damaging |
Het |
| Vmn1r206 |
A |
T |
13: 22,804,839 (GRCm39) |
S123T |
possibly damaging |
Het |
| Vmn1r58 |
A |
G |
7: 5,413,912 (GRCm39) |
V106A |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,822,099 (GRCm39) |
Y259C |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,654,909 (GRCm39) |
K467E |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,300,797 (GRCm39) |
F600L |
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,723,364 (GRCm39) |
N278I |
possibly damaging |
Het |
| Vwa5a |
A |
C |
9: 38,652,458 (GRCm39) |
D747A |
possibly damaging |
Het |
| Xdh |
G |
A |
17: 74,241,829 (GRCm39) |
P157S |
possibly damaging |
Het |
| Xrn1 |
G |
A |
9: 95,880,401 (GRCm39) |
|
probably null |
Het |
| Zfp362 |
T |
A |
4: 128,680,824 (GRCm39) |
H180L |
probably benign |
Het |
| Zfp560 |
A |
T |
9: 20,258,619 (GRCm39) |
W748R |
possibly damaging |
Het |
| Zfp808 |
A |
T |
13: 62,320,478 (GRCm39) |
Q569L |
probably benign |
Het |
| Zfp93 |
T |
A |
7: 23,974,643 (GRCm39) |
D209E |
possibly damaging |
Het |
| Zftraf1 |
A |
T |
15: 76,542,747 (GRCm39) |
Y138N |
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 |
|
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 |
|
|
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'- TGCACATGGACAATTACACGC -3'
(R):5'- TGTAGCTACTGGGCATACCTTG -3'
Sequencing Primer
(F):5'- CCATAACCATGGTGTGTTAATTAAGG -3'
(R):5'- ACCTTGCTTTGTTTGAATAGCATC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation