Incidental Mutation 'R9124:Abca5'
| ID |
693127 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R9124 (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 110189005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 817
(D817E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
|
| AlphaFold |
Q8K448 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043961
AA Change: D817E
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: D817E
| 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: D817E
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: D817E
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (91/91) |
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
G |
T |
15: 60,792,679 (GRCm39) |
N89K |
possibly damaging |
Het |
| Abca8b |
G |
A |
11: 109,828,593 (GRCm39) |
S1435F |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,111,284 (GRCm39) |
L3115P |
probably damaging |
Het |
| Arhgap39 |
G |
A |
15: 76,619,467 (GRCm39) |
R706W |
probably damaging |
Het |
| Atp5mk |
T |
C |
19: 47,074,578 (GRCm39) |
M28V |
probably benign |
Het |
| BC061237 |
A |
T |
14: 44,740,851 (GRCm39) |
I84F |
possibly damaging |
Het |
| Bhlhe22 |
T |
C |
3: 18,109,342 (GRCm39) |
S131P |
probably damaging |
Het |
| Brinp1 |
C |
A |
4: 68,747,582 (GRCm39) |
D174Y |
probably damaging |
Het |
| Bsdc1 |
A |
G |
4: 129,359,068 (GRCm39) |
T40A |
probably benign |
Het |
| Ccdc65 |
A |
T |
15: 98,618,863 (GRCm39) |
K281* |
probably null |
Het |
| Cd22 |
T |
C |
7: 30,572,662 (GRCm39) |
I316V |
probably benign |
Het |
| Cdhr18 |
A |
G |
14: 13,864,354 (GRCm38) |
F324S |
|
Het |
| Cfap100 |
A |
C |
6: 90,386,330 (GRCm39) |
I275S |
|
Het |
| Chd3 |
T |
G |
11: 69,260,162 (GRCm39) |
E19A |
unknown |
Het |
| Chrnb1 |
T |
C |
11: 69,685,057 (GRCm39) |
D91G |
probably benign |
Het |
| Cr1l |
A |
G |
1: 194,799,925 (GRCm39) |
S250P |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,034,806 (GRCm39) |
V2455A |
probably damaging |
Het |
| Dbp |
C |
T |
7: 45,357,818 (GRCm39) |
R229C |
probably damaging |
Het |
| Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
| Dnah6 |
C |
A |
6: 73,098,882 (GRCm39) |
V2058F |
possibly damaging |
Het |
| Dsp |
T |
A |
13: 38,377,276 (GRCm39) |
V1687D |
probably benign |
Het |
| Dtd1 |
T |
A |
2: 144,445,798 (GRCm39) |
M45K |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,478,064 (GRCm39) |
V2370E |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,403,363 (GRCm39) |
F38Y |
probably benign |
Het |
| Fgfr1 |
T |
A |
8: 26,060,185 (GRCm39) |
D438E |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,816,103 (GRCm39) |
K3945N |
probably benign |
Het |
| Galc |
C |
A |
12: 98,220,423 (GRCm39) |
|
probably null |
Het |
| Git1 |
C |
A |
11: 77,395,498 (GRCm39) |
D398E |
possibly damaging |
Het |
| Gm4924 |
A |
G |
10: 82,214,875 (GRCm39) |
Q891R |
unknown |
Het |
| Gpc2 |
T |
C |
5: 138,274,784 (GRCm39) |
|
probably benign |
Het |
| Havcr2 |
C |
T |
11: 46,360,388 (GRCm39) |
T205I |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,834,056 (GRCm39) |
N3087S |
probably damaging |
Het |
| Ifi204 |
C |
T |
1: 173,579,193 (GRCm39) |
|
probably null |
Het |
| Imp4 |
C |
T |
1: 34,479,128 (GRCm39) |
R4W |
unknown |
Het |
| Itfg2 |
A |
G |
6: 128,401,770 (GRCm39) |
S3P |
probably damaging |
Het |
| Kcnn3 |
C |
T |
3: 89,428,536 (GRCm39) |
T254I |
possibly damaging |
Het |
| Kics2 |
C |
T |
10: 121,586,416 (GRCm39) |
Q244* |
probably null |
Het |
| Kpna1 |
A |
G |
16: 35,853,644 (GRCm39) |
I425V |
probably benign |
Het |
| Krt23 |
A |
T |
11: 99,383,755 (GRCm39) |
S46T |
probably damaging |
Het |
| Loxl4 |
C |
A |
19: 42,596,099 (GRCm39) |
W118L |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,509,721 (GRCm39) |
Y749C |
unknown |
Het |
| Lysmd2 |
T |
A |
9: 75,533,075 (GRCm39) |
L10Q |
probably damaging |
Het |
| Mcm5 |
T |
A |
8: 75,851,418 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,909,178 (GRCm39) |
D45V |
probably damaging |
Het |
| Mdfic2 |
T |
A |
6: 98,318,899 (GRCm39) |
N22I |
possibly damaging |
Het |
| Mfsd10 |
T |
C |
5: 34,791,940 (GRCm39) |
T341A |
probably benign |
Het |
| Micu1 |
T |
A |
10: 59,586,335 (GRCm39) |
L170Q |
probably damaging |
Het |
| Msantd5 |
T |
C |
11: 51,125,481 (GRCm39) |
S135P |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
| Myo15a |
A |
T |
11: 60,369,952 (GRCm39) |
Q904L |
probably benign |
Het |
| Myo6 |
G |
A |
9: 80,195,353 (GRCm39) |
D908N |
unknown |
Het |
| Nlrp4e |
A |
T |
7: 23,020,403 (GRCm39) |
M297L |
probably benign |
Het |
| Nptn |
A |
G |
9: 58,558,498 (GRCm39) |
|
probably benign |
Het |
| Oas3 |
A |
C |
5: 120,912,170 (GRCm39) |
D73E |
probably damaging |
Het |
| Or12j5 |
T |
A |
7: 140,084,222 (GRCm39) |
H50L |
probably benign |
Het |
| Or52z14 |
A |
T |
7: 103,252,863 (GRCm39) |
M1L |
probably benign |
Het |
| Or6d13 |
A |
T |
6: 116,517,416 (GRCm39) |
M1L |
probably null |
Het |
| Or6n1 |
T |
C |
1: 173,917,341 (GRCm39) |
L245P |
probably damaging |
Het |
| Pck1 |
C |
G |
2: 172,997,018 (GRCm39) |
A220G |
probably benign |
Het |
| Pigq |
G |
A |
17: 26,156,233 (GRCm39) |
T65I |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,431,696 (GRCm39) |
F9L |
probably damaging |
Het |
| Plk3 |
ACACTCAC |
ACAC |
4: 116,989,090 (GRCm39) |
|
probably benign |
Het |
| Pnkd |
A |
G |
1: 74,386,602 (GRCm39) |
R138G |
possibly damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,781,881 (GRCm39) |
I781N |
probably damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,328,719 (GRCm39) |
I2873V |
probably benign |
Het |
| Rpn2 |
C |
A |
2: 157,139,458 (GRCm39) |
Q283K |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,355,561 (GRCm39) |
S178P |
possibly damaging |
Het |
| Shroom3 |
A |
G |
5: 93,112,401 (GRCm39) |
K1921E |
probably benign |
Het |
| Slc20a1 |
A |
G |
2: 129,051,142 (GRCm39) |
S600G |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,668,830 (GRCm39) |
V534A |
possibly damaging |
Het |
| Slit1 |
C |
T |
19: 41,594,951 (GRCm39) |
V1140I |
probably benign |
Het |
| Sncg |
T |
C |
14: 34,095,640 (GRCm39) |
S51G |
possibly damaging |
Het |
| Spon2 |
C |
A |
5: 33,372,935 (GRCm39) |
D256Y |
possibly damaging |
Het |
| Srcap |
G |
T |
7: 127,159,874 (GRCm39) |
R3250L |
unknown |
Het |
| Sun1 |
T |
G |
5: 139,231,121 (GRCm39) |
Y763* |
probably null |
Het |
| Synj1 |
A |
T |
16: 90,735,513 (GRCm39) |
F1480Y |
probably benign |
Het |
| Tbc1d30 |
T |
A |
10: 121,132,716 (GRCm39) |
N216I |
probably damaging |
Het |
| Tent2 |
A |
T |
13: 93,284,160 (GRCm39) |
L465* |
probably null |
Het |
| Tgfb1 |
A |
T |
7: 25,388,580 (GRCm39) |
K39* |
probably null |
Het |
| Tmem87a |
A |
G |
2: 120,224,841 (GRCm39) |
|
probably null |
Het |
| Tmem8b |
C |
A |
4: 43,681,982 (GRCm39) |
R452S |
probably benign |
Het |
| Tnfsf13b |
A |
G |
8: 10,056,966 (GRCm39) |
I42V |
probably benign |
Het |
| Trpc2 |
A |
G |
7: 101,745,090 (GRCm39) |
T769A |
possibly damaging |
Het |
| Ttc3 |
A |
G |
16: 94,236,389 (GRCm39) |
T1033A |
probably benign |
Het |
| Ttll13 |
C |
T |
7: 79,906,751 (GRCm39) |
A473V |
probably damaging |
Het |
| U2surp |
G |
A |
9: 95,346,468 (GRCm39) |
R908* |
probably null |
Het |
| Ube2s |
A |
G |
7: 4,814,510 (GRCm39) |
Y17H |
probably damaging |
Het |
| Vmn1r94 |
A |
T |
7: 19,901,509 (GRCm39) |
M265K |
probably benign |
Het |
| Vmn2r23 |
T |
C |
6: 123,719,038 (GRCm39) |
I797T |
possibly damaging |
Het |
| Yipf3 |
A |
T |
17: 46,559,895 (GRCm39) |
E70D |
probably benign |
Het |
| Zcchc14 |
G |
A |
8: 122,331,969 (GRCm39) |
P465S |
unknown |
Het |
| Zfp169 |
T |
C |
13: 48,644,557 (GRCm39) |
E190G |
unknown |
Het |
| Zfp707 |
T |
C |
15: 75,845,468 (GRCm39) |
S111P |
|
Het |
| Zfp738 |
T |
C |
13: 67,819,457 (GRCm39) |
E178G |
possibly damaging |
Het |
| Zfr |
A |
T |
15: 12,136,757 (GRCm39) |
N138I |
unknown |
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 |
|
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'- GGCAGGCTTTCAGGAGAATG -3'
(R):5'- ACTGAAGCTTAGCATGAGGTCAG -3'
Sequencing Primer
(F):5'- TGATGATGGTACTCACACAGC -3'
(R):5'- GATGCCAAAGAGTACGTTTCTGTTCC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation