Incidental Mutation 'R4883:Abca5'
| ID |
375442 |
| 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 |
042491-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R4883 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110217457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 133
(D133G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
[ENSMUST00000134721]
|
| AlphaFold |
Q8K448 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043961
AA Change: D133G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: D133G
| 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 damaging
Transcript: ENSMUST00000124714
AA Change: D133G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: D133G
| 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 |
noncoding transcript
Transcript: ENSMUST00000127318
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134721
AA Change: D133G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118328
Gene: ENSMUSG00000018800
AA Change: D133G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
36 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148984
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
G |
T |
9: 44,190,616 (GRCm39) |
H55Q |
probably damaging |
Het |
| Acaca |
T |
A |
11: 84,142,116 (GRCm39) |
V641E |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,875,552 (GRCm39) |
I229V |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,837,493 (GRCm39) |
I793N |
probably damaging |
Het |
| Akr1d1 |
A |
T |
6: 37,535,336 (GRCm39) |
D240V |
possibly damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,018,802 (GRCm39) |
D548G |
probably benign |
Het |
| Asl |
A |
G |
5: 130,042,802 (GRCm39) |
|
probably null |
Het |
| Atg14 |
C |
T |
14: 47,788,771 (GRCm39) |
R194Q |
probably damaging |
Het |
| BC004004 |
T |
A |
17: 29,501,166 (GRCm39) |
F38L |
probably damaging |
Het |
| Btg1 |
T |
C |
10: 96,453,259 (GRCm39) |
F25L |
probably benign |
Het |
| Btrc |
C |
T |
19: 45,445,026 (GRCm39) |
P35S |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,714,705 (GRCm39) |
N142Y |
probably damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,397,818 (GRCm39) |
I553V |
probably benign |
Het |
| Ccdc198 |
T |
A |
14: 49,482,560 (GRCm39) |
N52I |
probably damaging |
Het |
| Cdc42 |
T |
A |
4: 137,056,115 (GRCm39) |
N132I |
probably benign |
Het |
| Ces1e |
A |
G |
8: 93,950,716 (GRCm39) |
S22P |
probably benign |
Het |
| Clmn |
G |
T |
12: 104,748,307 (GRCm39) |
D413E |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,201,293 (GRCm39) |
T730A |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,343,784 (GRCm39) |
M2395L |
probably benign |
Het |
| Ephx1 |
G |
T |
1: 180,829,488 (GRCm39) |
S20Y |
possibly damaging |
Het |
| Exoc5 |
T |
G |
14: 49,289,821 (GRCm39) |
E19A |
probably damaging |
Het |
| Fam120b |
T |
C |
17: 15,623,294 (GRCm39) |
L424P |
probably benign |
Het |
| Fam89a |
G |
A |
8: 125,467,823 (GRCm39) |
T163I |
possibly damaging |
Het |
| Fcrl2 |
G |
A |
3: 87,166,922 (GRCm39) |
L24F |
possibly damaging |
Het |
| Fgd6 |
G |
T |
10: 93,975,715 (GRCm39) |
V1377L |
probably benign |
Het |
| Glud1 |
T |
A |
14: 34,057,347 (GRCm39) |
I337K |
possibly damaging |
Het |
| Gm6370 |
T |
A |
5: 146,430,736 (GRCm39) |
I303N |
probably benign |
Het |
| Gm7995 |
T |
C |
14: 42,133,383 (GRCm39) |
Y88H |
probably damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,520,393 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
T |
C |
15: 63,707,614 (GRCm39) |
D60G |
probably damaging |
Het |
| Hcn1 |
T |
A |
13: 118,039,431 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,831,030 (GRCm39) |
C936* |
probably null |
Het |
| Herc4 |
T |
A |
10: 63,121,433 (GRCm39) |
S358T |
probably benign |
Het |
| Hk3 |
A |
G |
13: 55,158,735 (GRCm39) |
C515R |
probably benign |
Het |
| Ighg1 |
A |
G |
12: 113,291,138 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 88,014,842 (GRCm39) |
C853S |
probably benign |
Het |
| Irx4 |
G |
A |
13: 73,415,750 (GRCm39) |
A180T |
probably damaging |
Het |
| Kif20b |
A |
G |
19: 34,943,522 (GRCm39) |
T1441A |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,215,106 (GRCm39) |
K738E |
possibly damaging |
Het |
| Lmntd2 |
A |
T |
7: 140,792,531 (GRCm39) |
S218T |
probably damaging |
Het |
| Lnx1 |
A |
T |
5: 74,768,530 (GRCm39) |
W353R |
probably benign |
Het |
| Lrfn3 |
G |
T |
7: 30,055,238 (GRCm39) |
P569Q |
possibly damaging |
Het |
| Mamstr |
A |
G |
7: 45,293,838 (GRCm39) |
I11V |
probably benign |
Het |
| Med31 |
T |
C |
11: 72,104,975 (GRCm39) |
N32S |
possibly damaging |
Het |
| Mob3c |
A |
T |
4: 115,690,928 (GRCm39) |
I173F |
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,667,250 (GRCm39) |
|
probably null |
Het |
| Mphosph9 |
T |
C |
5: 124,437,108 (GRCm39) |
K412R |
probably damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,072,537 (GRCm39) |
N610Y |
probably damaging |
Het |
| Mthfd1l |
C |
T |
10: 3,957,775 (GRCm39) |
P271S |
probably benign |
Het |
| Ncam1 |
C |
T |
9: 49,453,183 (GRCm39) |
|
probably null |
Het |
| Ncbp3 |
T |
A |
11: 72,960,578 (GRCm39) |
Y279N |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,248,687 (GRCm39) |
T1539I |
probably benign |
Het |
| Nedd4 |
G |
A |
9: 72,647,515 (GRCm39) |
|
probably null |
Het |
| Neil1 |
A |
G |
9: 57,054,206 (GRCm39) |
V38A |
probably damaging |
Het |
| Ngf |
T |
A |
3: 102,427,961 (GRCm39) |
F237I |
probably damaging |
Het |
| Nol3 |
A |
G |
8: 106,005,888 (GRCm39) |
Q94R |
possibly damaging |
Het |
| Obox1 |
A |
G |
7: 15,290,263 (GRCm39) |
N202S |
probably damaging |
Het |
| Odc1 |
T |
A |
12: 17,597,386 (GRCm39) |
N29K |
possibly damaging |
Het |
| Or2b7 |
C |
T |
13: 21,739,658 (GRCm39) |
R178H |
probably benign |
Het |
| Or2h15 |
T |
C |
17: 38,441,508 (GRCm39) |
T192A |
probably damaging |
Het |
| Or4a69 |
C |
T |
2: 89,312,652 (GRCm39) |
V276I |
probably benign |
Het |
| Or52a20 |
A |
C |
7: 103,365,914 (GRCm39) |
I38L |
probably benign |
Het |
| P2rx7 |
T |
A |
5: 122,819,129 (GRCm39) |
V517E |
probably damaging |
Het |
| Parm1 |
A |
G |
5: 91,741,775 (GRCm39) |
T48A |
possibly damaging |
Het |
| Pcdh9 |
T |
A |
14: 94,126,164 (GRCm39) |
D2V |
possibly damaging |
Het |
| Pgm3 |
G |
T |
9: 86,451,378 (GRCm39) |
T92N |
probably damaging |
Het |
| Plcg2 |
G |
T |
8: 118,333,872 (GRCm39) |
G882* |
probably null |
Het |
| Ptpn14 |
C |
T |
1: 189,582,997 (GRCm39) |
P615S |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,464,928 (GRCm39) |
Y1244F |
probably damaging |
Het |
| Rere |
G |
A |
4: 150,700,510 (GRCm39) |
A1162T |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,090,747 (GRCm39) |
E391G |
probably damaging |
Het |
| Sema4c |
A |
G |
1: 36,591,097 (GRCm39) |
V414A |
probably damaging |
Het |
| Serpinb10 |
A |
T |
1: 107,468,681 (GRCm39) |
N185I |
probably damaging |
Het |
| Shroom3 |
T |
G |
5: 93,098,993 (GRCm39) |
M1410R |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,134,356 (GRCm39) |
S176T |
probably benign |
Het |
| Sntb1 |
A |
T |
15: 55,506,198 (GRCm39) |
Y458* |
probably null |
Het |
| Sorcs1 |
C |
T |
19: 50,220,741 (GRCm39) |
V570I |
probably benign |
Het |
| Sp8 |
T |
A |
12: 118,812,805 (GRCm39) |
V220E |
probably damaging |
Het |
| Spry1 |
C |
T |
3: 37,696,868 (GRCm39) |
T37M |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,437,756 (GRCm39) |
H1305L |
probably benign |
Het |
| Tbc1d22a |
A |
G |
15: 86,381,117 (GRCm39) |
D509G |
possibly damaging |
Het |
| Tmem108 |
A |
T |
9: 103,376,276 (GRCm39) |
V391D |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 128,346,366 (GRCm39) |
H52L |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 128,346,364 (GRCm39) |
I53F |
probably damaging |
Het |
| Tnnt2 |
A |
T |
1: 135,775,496 (GRCm39) |
R87* |
probably null |
Het |
| Ube3a |
A |
T |
7: 58,893,198 (GRCm39) |
M1L |
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,060,592 (GRCm39) |
T1119A |
probably damaging |
Het |
| Usf3 |
A |
T |
16: 44,039,942 (GRCm39) |
H1474L |
probably damaging |
Het |
| Vcpip1 |
G |
A |
1: 9,817,423 (GRCm39) |
T320I |
probably damaging |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,443 (GRCm39) |
L58P |
probably damaging |
Het |
| Wdr53 |
A |
T |
16: 32,075,796 (GRCm39) |
K334* |
probably null |
Het |
| Zbtb40 |
T |
A |
4: 136,728,241 (GRCm39) |
R459W |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,246,547 (GRCm39) |
L878Q |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,671,455 (GRCm39) |
D206G |
probably benign |
Het |
| Zfp46 |
T |
A |
4: 136,017,792 (GRCm39) |
C209S |
probably damaging |
Het |
| Zup1 |
G |
T |
10: 33,825,038 (GRCm39) |
T148K |
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 |
|
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 |
|
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'- CCGTTTCCCTAAAACTAAGTACAGCTG -3'
(R):5'- GGTTTATTTCAGTACCAAAACCTCC -3'
Sequencing Primer
(F):5'- GCTGAAAATGACAGTACTGGACACC -3'
(R):5'- TCACTGTACTATAGGCAGG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation