Incidental Mutation 'R9151:Abca5'
| ID |
695051 |
| 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 |
068973-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R9151 (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 G
at 110188908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 850
(F850L)
|
| 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: F850L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: F850L
| 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: F850L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: F850L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (71/71) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
A |
T |
5: 121,657,411 (GRCm39) |
D627E |
probably damaging |
Het |
| Add2 |
C |
A |
6: 86,081,459 (GRCm39) |
|
probably benign |
Het |
| Anpep |
T |
C |
7: 79,491,785 (GRCm39) |
N72S |
probably benign |
Het |
| Aqp6 |
A |
G |
15: 99,501,655 (GRCm39) |
T238A |
possibly damaging |
Het |
| Arhgef38 |
G |
T |
3: 132,912,706 (GRCm39) |
T111K |
|
Het |
| Atg10 |
A |
G |
13: 91,189,032 (GRCm39) |
Y93H |
probably damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cald1 |
A |
G |
6: 34,732,682 (GRCm39) |
N286S |
unknown |
Het |
| Caps2 |
A |
T |
10: 112,031,829 (GRCm39) |
I322F |
possibly damaging |
Het |
| Cbx3 |
T |
A |
6: 51,455,533 (GRCm39) |
S95T |
probably benign |
Het |
| Ccdc24 |
T |
C |
4: 117,727,102 (GRCm39) |
T83A |
unknown |
Het |
| Cntn1 |
T |
C |
15: 92,140,864 (GRCm39) |
Y197H |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,675,275 (GRCm39) |
I1282T |
possibly damaging |
Het |
| Crat |
A |
T |
2: 30,295,052 (GRCm39) |
S454R |
probably damaging |
Het |
| D2hgdh |
G |
A |
1: 93,754,338 (GRCm39) |
V126I |
probably benign |
Het |
| Dcst1 |
A |
G |
3: 89,271,558 (GRCm39) |
V75A |
probably benign |
Het |
| Dnm1l |
T |
C |
16: 16,176,668 (GRCm39) |
D21G |
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,504,823 (GRCm39) |
N74D |
probably benign |
Het |
| Gm19965 |
A |
T |
1: 116,748,942 (GRCm39) |
M208L |
|
Het |
| Gprc6a |
T |
G |
10: 51,497,182 (GRCm39) |
T454P |
possibly damaging |
Het |
| Gprin1 |
C |
T |
13: 54,886,778 (GRCm39) |
V499M |
probably benign |
Het |
| Gtf3c5 |
A |
G |
2: 28,463,577 (GRCm39) |
Y194H |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,880 (GRCm39) |
V1147A |
possibly damaging |
Het |
| Ighv1-82 |
A |
C |
12: 115,916,342 (GRCm39) |
V56G |
probably damaging |
Het |
| Ins2 |
T |
C |
7: 142,232,505 (GRCm39) |
D93G |
possibly damaging |
Het |
| Itgb8 |
A |
G |
12: 119,130,535 (GRCm39) |
S658P |
probably benign |
Het |
| Kcnmb1 |
T |
C |
11: 33,920,263 (GRCm39) |
F159L |
probably benign |
Het |
| Klf1 |
C |
T |
8: 85,629,954 (GRCm39) |
L260F |
probably benign |
Het |
| Larp4 |
T |
A |
15: 99,888,205 (GRCm39) |
S140T |
possibly damaging |
Het |
| Maneal |
C |
A |
4: 124,755,542 (GRCm39) |
R140L |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,750,323 (GRCm39) |
V114D |
|
Het |
| Muc4 |
A |
G |
16: 32,752,617 (GRCm38) |
T832A |
probably benign |
Het |
| Myh11 |
T |
G |
16: 14,050,439 (GRCm39) |
I509L |
|
Het |
| Myh13 |
A |
T |
11: 67,252,149 (GRCm39) |
E1419V |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,474,439 (GRCm39) |
E1718G |
probably damaging |
Het |
| Myo9b |
T |
A |
8: 71,807,871 (GRCm39) |
|
probably benign |
Het |
| Notch1 |
A |
T |
2: 26,367,939 (GRCm39) |
L656Q |
probably benign |
Het |
| Nova1 |
A |
G |
12: 46,746,813 (GRCm39) |
I488T |
probably damaging |
Het |
| Or51r1 |
A |
T |
7: 102,228,500 (GRCm39) |
E266V |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,222 (GRCm39) |
T77S |
possibly damaging |
Het |
| Or5b21 |
A |
G |
19: 12,839,976 (GRCm39) |
Y279C |
probably damaging |
Het |
| Or5d18 |
A |
G |
2: 87,864,697 (GRCm39) |
V262A |
probably damaging |
Het |
| Or6c35 |
A |
G |
10: 129,169,623 (GRCm39) |
N291S |
probably damaging |
Het |
| Or6d13 |
A |
T |
6: 116,517,990 (GRCm39) |
N192I |
possibly damaging |
Het |
| Pax6 |
C |
T |
2: 105,523,097 (GRCm39) |
S325L |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,619,740 (GRCm39) |
D142G |
probably null |
Het |
| Phldb3 |
T |
G |
7: 24,324,048 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
G |
T |
1: 65,235,898 (GRCm39) |
R190L |
probably damaging |
Het |
| Plagl2 |
A |
T |
2: 153,074,540 (GRCm39) |
H120Q |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,703,640 (GRCm39) |
|
probably benign |
Het |
| Pramel58 |
A |
G |
5: 94,831,836 (GRCm39) |
Y281C |
possibly damaging |
Het |
| Prpf6 |
A |
G |
2: 181,250,001 (GRCm39) |
R54G |
possibly damaging |
Het |
| Prss33 |
T |
C |
17: 24,052,966 (GRCm39) |
E236G |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,522,278 (GRCm39) |
Y709C |
probably benign |
Het |
| Rcc1l |
A |
G |
5: 134,197,057 (GRCm39) |
V212A |
probably benign |
Het |
| Rtl1 |
G |
A |
12: 109,560,007 (GRCm39) |
L611F |
|
Het |
| Scp2 |
A |
G |
4: 107,931,603 (GRCm39) |
I344T |
possibly damaging |
Het |
| Serpinb2 |
A |
T |
1: 107,449,890 (GRCm39) |
D101V |
possibly damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,097,662 (GRCm39) |
T422A |
probably damaging |
Het |
| Slc38a10 |
G |
T |
11: 120,007,762 (GRCm39) |
T406K |
probably benign |
Het |
| Smad4 |
T |
C |
18: 73,782,806 (GRCm39) |
E376G |
probably damaging |
Het |
| Smarcb1 |
T |
C |
10: 75,750,916 (GRCm39) |
E115G |
probably benign |
Het |
| Spata31h1 |
A |
T |
10: 82,120,928 (GRCm39) |
H4027Q |
probably damaging |
Het |
| Taf5 |
G |
A |
19: 47,063,370 (GRCm39) |
V307I |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,938,686 (GRCm39) |
N51S |
possibly damaging |
Het |
| Trp53inp2 |
G |
T |
2: 155,228,558 (GRCm39) |
R171L |
possibly damaging |
Het |
| Ttc13 |
A |
T |
8: 125,402,021 (GRCm39) |
D579E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,775,896 (GRCm39) |
N1761K |
unknown |
Het |
| Ttpa |
C |
T |
4: 20,008,401 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
G |
A |
15: 9,362,051 (GRCm39) |
V276I |
probably benign |
Het |
| Usp4 |
T |
A |
9: 108,244,011 (GRCm39) |
H296Q |
probably benign |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,593 (GRCm39) |
H263L |
possibly damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,103,905 (GRCm39) |
D176G |
|
Het |
| Wdr1 |
A |
T |
5: 38,687,468 (GRCm39) |
|
probably benign |
Het |
| Zfp488 |
T |
G |
14: 33,692,695 (GRCm39) |
Q156P |
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 |
|
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 |
|
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 |
|
| Posted On |
2022-01-20 |
Incidental Mutation