Incidental Mutation 'R7239:Abca5'
| ID |
563093 |
| 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 |
045346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R7239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110217530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 109
(Y109N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
[ENSMUST00000134721]
|
| AlphaFold |
Q8K448 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043961
AA Change: Y109N
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: Y109N
| 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 |
possibly damaging
Transcript: ENSMUST00000124714
AA Change: Y109N
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: Y109N
| 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 |
possibly damaging
Transcript: ENSMUST00000134721
AA Change: Y109N
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118328
Gene: ENSMUSG00000018800
AA Change: Y109N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
53 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0804 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
99% (76/77) |
| 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 |
|---|
| 2510009E07Rik |
A |
G |
16: 21,472,268 (GRCm39) |
V144A |
probably damaging |
Het |
| Abcb5 |
T |
C |
12: 118,892,460 (GRCm39) |
Q433R |
probably benign |
Het |
| Adamts7 |
G |
A |
9: 90,068,610 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,624,731 (GRCm39) |
D3746G |
possibly damaging |
Het |
| Arhgap29 |
C |
T |
3: 121,782,599 (GRCm39) |
S159L |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,564,159 (GRCm39) |
C377S |
probably benign |
Het |
| Atp1a3 |
G |
A |
7: 24,700,129 (GRCm39) |
P77L |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,812,754 (GRCm39) |
D257G |
probably damaging |
Het |
| Bin1 |
T |
A |
18: 32,539,224 (GRCm39) |
N52K |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,409,507 (GRCm39) |
M562T |
probably benign |
Het |
| Ccdc33 |
G |
A |
9: 57,940,192 (GRCm39) |
Q713* |
probably null |
Het |
| Cd96 |
A |
T |
16: 45,929,477 (GRCm39) |
L156Q |
probably damaging |
Het |
| Clpb |
A |
G |
7: 101,360,662 (GRCm39) |
T231A |
probably damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dnmt3a |
A |
T |
12: 3,922,850 (GRCm39) |
Q151L |
probably benign |
Het |
| Dock2 |
C |
T |
11: 34,181,677 (GRCm39) |
V1629M |
probably benign |
Het |
| Edem1 |
G |
A |
6: 108,831,341 (GRCm39) |
D601N |
probably benign |
Het |
| Eno2 |
C |
T |
6: 124,745,228 (GRCm39) |
V20M |
probably damaging |
Het |
| Eny2 |
A |
C |
15: 44,297,250 (GRCm39) |
D52A |
probably benign |
Het |
| Esp36 |
T |
C |
17: 38,728,132 (GRCm39) |
R93G |
possibly damaging |
Het |
| Fam227a |
A |
G |
15: 79,518,263 (GRCm39) |
|
probably null |
Het |
| Fat4 |
C |
A |
3: 39,037,989 (GRCm39) |
H3880Q |
possibly damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,434,598 (GRCm39) |
V334E |
possibly damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,329 (GRCm39) |
Q406R |
probably benign |
Het |
| Frmpd2 |
A |
G |
14: 33,274,034 (GRCm39) |
N1092S |
probably benign |
Het |
| Gm904 |
C |
A |
13: 50,799,287 (GRCm39) |
T82K |
probably benign |
Het |
| Gnas |
G |
C |
2: 174,140,408 (GRCm39) |
G252R |
unknown |
Het |
| Gpatch2l |
A |
G |
12: 86,307,349 (GRCm39) |
|
probably null |
Het |
| H2ac6 |
A |
T |
13: 23,867,593 (GRCm39) |
I103N |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,541,187 (GRCm39) |
V204A |
probably benign |
Het |
| Ikzf4 |
A |
G |
10: 128,477,113 (GRCm39) |
L119P |
probably damaging |
Het |
| Ing3 |
G |
A |
6: 21,952,193 (GRCm39) |
E56K |
probably damaging |
Het |
| Klhl25 |
T |
C |
7: 75,516,516 (GRCm39) |
I474T |
probably benign |
Het |
| Klhl5 |
T |
C |
5: 65,318,529 (GRCm39) |
V556A |
probably damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,081 (GRCm39) |
M382K |
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,292,745 (GRCm39) |
V199A |
possibly damaging |
Het |
| Lpcat4 |
T |
A |
2: 112,073,052 (GRCm39) |
F200I |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,894,725 (GRCm39) |
T2282A |
|
Het |
| Lrrk1 |
T |
C |
7: 65,911,903 (GRCm39) |
T1886A |
probably benign |
Het |
| Meis2 |
T |
C |
2: 115,889,484 (GRCm39) |
|
probably null |
Het |
| Mki67 |
C |
T |
7: 135,301,905 (GRCm39) |
R1043K |
possibly damaging |
Het |
| Myct1 |
G |
T |
10: 5,554,601 (GRCm39) |
R156L |
possibly damaging |
Het |
| Nckap5l |
G |
T |
15: 99,324,090 (GRCm39) |
H804Q |
probably damaging |
Het |
| Ndst3 |
T |
G |
3: 123,400,555 (GRCm39) |
E450D |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,321,619 (GRCm39) |
|
probably null |
Het |
| Npy |
A |
G |
6: 49,800,587 (GRCm39) |
N4D |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,487 (GRCm39) |
Y218F |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 16,008,748 (GRCm39) |
S18G |
probably benign |
Het |
| Pcdha9 |
T |
G |
18: 37,131,551 (GRCm39) |
F207V |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,697 (GRCm39) |
I692F |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,015,384 (GRCm39) |
V200E |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,543,981 (GRCm39) |
L345I |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,113,472 (GRCm39) |
A315T |
probably damaging |
Het |
| Rnf111 |
G |
A |
9: 70,376,655 (GRCm39) |
T328I |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,349,614 (GRCm39) |
L3825P |
|
Het |
| Rtl1 |
C |
T |
12: 109,558,909 (GRCm39) |
V977I |
probably benign |
Het |
| Scn1a |
G |
A |
2: 66,108,000 (GRCm39) |
|
probably null |
Het |
| Slc25a2 |
G |
T |
18: 37,770,748 (GRCm39) |
N260K |
probably benign |
Het |
| Sprtn |
T |
C |
8: 125,626,983 (GRCm39) |
V121A |
probably damaging |
Het |
| Ssx2ip |
T |
G |
3: 146,133,771 (GRCm39) |
L260W |
probably damaging |
Het |
| Syde1 |
G |
A |
10: 78,424,615 (GRCm39) |
R406C |
probably damaging |
Het |
| Tab1 |
A |
G |
15: 80,017,372 (GRCm39) |
R6G |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,385,020 (GRCm39) |
V526I |
possibly damaging |
Het |
| Tfap2b |
T |
C |
1: 19,304,404 (GRCm39) |
F405L |
probably damaging |
Het |
| Trbv13-1 |
C |
A |
6: 41,093,325 (GRCm39) |
T87K |
probably benign |
Het |
| Trmt44 |
G |
T |
5: 35,732,130 (GRCm39) |
A87E |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,617,634 (GRCm39) |
D16279G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,711,672 (GRCm39) |
R8290C |
unknown |
Het |
| Ugt2b37 |
T |
A |
5: 87,402,590 (GRCm39) |
I14L |
probably benign |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,611 (GRCm39) |
M257L |
probably benign |
Het |
| Vmn1r184 |
C |
T |
7: 25,966,602 (GRCm39) |
P116L |
possibly damaging |
Het |
| Zfp426 |
T |
C |
9: 20,381,887 (GRCm39) |
T367A |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,795,956 (GRCm39) |
C235S |
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 |
|
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'- AGACTGAGTTCAATGACTAGACAG -3'
(R):5'- TCTAGTGTGTTCAAGGACAAAGG -3'
Sequencing Primer
(F):5'- GAAGTTCATAGGACATGGTG -3'
(R):5'- GGTTTATTTCAGTACCAAAACCTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation