Incidental Mutation 'R5000:Abca5'
| ID |
389846 |
| 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 |
042594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R5000 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110201050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 450
(L450P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
|
| AlphaFold |
Q8K448 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043961
AA Change: L450P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: L450P
| 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: L450P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: L450P
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
98% (97/99) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
A |
7: 27,255,946 (GRCm39) |
F11Y |
probably benign |
Het |
| Abi1 |
T |
A |
2: 22,840,211 (GRCm39) |
R357W |
probably damaging |
Het |
| Acot7 |
G |
A |
4: 152,270,820 (GRCm39) |
G55R |
probably benign |
Het |
| Aicda |
G |
A |
6: 122,538,826 (GRCm39) |
V14I |
probably damaging |
Het |
| Anxa4 |
G |
T |
6: 86,742,766 (GRCm39) |
|
probably benign |
Het |
| Apobr |
T |
A |
7: 126,185,729 (GRCm39) |
D413E |
possibly damaging |
Het |
| Ash1l |
T |
C |
3: 88,965,941 (GRCm39) |
Y2448H |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,559,426 (GRCm39) |
E749G |
probably damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,357,676 (GRCm39) |
N1114K |
possibly damaging |
Het |
| Bdnf |
C |
A |
2: 109,553,993 (GRCm39) |
N122K |
probably benign |
Het |
| Boc |
A |
T |
16: 44,310,517 (GRCm39) |
I801N |
probably damaging |
Het |
| Brap |
A |
T |
5: 121,800,089 (GRCm39) |
K37* |
probably null |
Het |
| Ccar1 |
C |
T |
10: 62,586,784 (GRCm39) |
E885K |
unknown |
Het |
| Ccdc103 |
A |
G |
11: 102,774,932 (GRCm39) |
N177S |
probably benign |
Het |
| Ccdc116 |
G |
A |
16: 16,959,657 (GRCm39) |
P344L |
possibly damaging |
Het |
| Cdca5 |
T |
C |
19: 6,135,463 (GRCm39) |
S28P |
possibly damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,699,453 (GRCm39) |
I14T |
probably damaging |
Het |
| Chrnb1 |
A |
T |
11: 69,677,858 (GRCm39) |
V298E |
probably damaging |
Het |
| Cnksr3 |
G |
A |
10: 7,076,746 (GRCm39) |
Q149* |
probably null |
Het |
| Csnk1a1 |
T |
C |
18: 61,711,840 (GRCm39) |
F97L |
probably damaging |
Het |
| Dag1 |
A |
T |
9: 108,085,216 (GRCm39) |
S642T |
probably benign |
Het |
| Dedd2 |
A |
G |
7: 24,903,068 (GRCm39) |
V297A |
possibly damaging |
Het |
| Dhcr7 |
C |
T |
7: 143,395,060 (GRCm39) |
T189M |
possibly damaging |
Het |
| Dlgap1 |
T |
C |
17: 71,073,053 (GRCm39) |
S691P |
probably damaging |
Het |
| Dmgdh |
A |
C |
13: 93,825,046 (GRCm39) |
H123P |
probably damaging |
Het |
| Dnah6 |
C |
T |
6: 73,121,798 (GRCm39) |
V1395I |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,606,201 (GRCm39) |
Y1273C |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,138,663 (GRCm39) |
L235* |
probably null |
Het |
| Elac2 |
T |
C |
11: 64,876,379 (GRCm39) |
F3L |
probably benign |
Het |
| Elovl7 |
A |
T |
13: 108,410,915 (GRCm39) |
K163N |
probably benign |
Het |
| Epg5 |
T |
C |
18: 77,997,376 (GRCm39) |
V413A |
probably benign |
Het |
| Espl1 |
T |
A |
15: 102,206,986 (GRCm39) |
L150Q |
probably damaging |
Het |
| F2rl3 |
T |
A |
8: 73,489,307 (GRCm39) |
L178Q |
probably damaging |
Het |
| Fam120a |
T |
C |
13: 49,051,143 (GRCm39) |
E754G |
probably damaging |
Het |
| Fam53b |
T |
C |
7: 132,317,730 (GRCm39) |
N304S |
probably benign |
Het |
| Fbxo41 |
T |
C |
6: 85,460,901 (GRCm39) |
E269G |
probably damaging |
Het |
| Fcrla |
T |
C |
1: 170,749,959 (GRCm39) |
T4A |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,261,931 (GRCm39) |
|
probably null |
Het |
| Gm9376 |
A |
G |
14: 118,504,702 (GRCm39) |
M45V |
probably benign |
Het |
| Gpr68 |
G |
A |
12: 100,844,596 (GRCm39) |
A316V |
probably benign |
Het |
| Hmgcl |
G |
A |
4: 135,689,511 (GRCm39) |
C323Y |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,156,941 (GRCm39) |
|
probably benign |
Het |
| Ier2 |
T |
A |
8: 85,389,353 (GRCm39) |
I10F |
probably damaging |
Het |
| Ip6k1 |
C |
T |
9: 107,922,798 (GRCm39) |
Q234* |
probably null |
Het |
| Llgl2 |
T |
C |
11: 115,735,728 (GRCm39) |
V108A |
probably benign |
Het |
| Lrfn3 |
T |
C |
7: 30,059,805 (GRCm39) |
N140S |
possibly damaging |
Het |
| Lrig1 |
T |
A |
6: 94,588,430 (GRCm39) |
H573L |
probably damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,634,081 (GRCm39) |
W1393R |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,249,000 (GRCm39) |
Y179N |
probably damaging |
Het |
| Mtfr1 |
C |
T |
3: 19,265,743 (GRCm39) |
L93F |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,757,429 (GRCm39) |
|
noncoding transcript |
Het |
| Ndst2 |
C |
T |
14: 20,774,975 (GRCm39) |
|
probably null |
Het |
| Nmd3 |
A |
T |
3: 69,624,735 (GRCm39) |
|
probably benign |
Het |
| Nsd3 |
A |
G |
8: 26,172,593 (GRCm39) |
Y784C |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,910 (GRCm39) |
I11N |
probably damaging |
Het |
| Or7a36 |
G |
A |
10: 78,820,514 (GRCm39) |
V297I |
probably benign |
Het |
| Papln |
A |
G |
12: 83,821,663 (GRCm39) |
Y297C |
probably damaging |
Het |
| Pdhx |
T |
C |
2: 102,871,385 (GRCm39) |
|
probably null |
Het |
| Pdpk1 |
T |
C |
17: 24,330,019 (GRCm39) |
T6A |
possibly damaging |
Het |
| Prcp |
T |
C |
7: 92,568,368 (GRCm39) |
W267R |
probably damaging |
Het |
| Prg2 |
T |
C |
2: 84,812,367 (GRCm39) |
S26P |
probably benign |
Het |
| Psg26 |
A |
T |
7: 18,214,057 (GRCm39) |
Y202N |
possibly damaging |
Het |
| Psrc1 |
T |
C |
3: 108,287,839 (GRCm39) |
|
probably benign |
Het |
| Rap1gds1 |
A |
T |
3: 138,662,011 (GRCm39) |
M366K |
probably damaging |
Het |
| Robo4 |
G |
T |
9: 37,319,664 (GRCm39) |
R527L |
probably benign |
Het |
| Sel1l3 |
G |
A |
5: 53,357,776 (GRCm39) |
T72M |
probably damaging |
Het |
| Selenoo |
G |
A |
15: 88,978,387 (GRCm39) |
R270H |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,498,005 (GRCm39) |
T4A |
probably benign |
Het |
| Shroom1 |
A |
T |
11: 53,357,944 (GRCm39) |
|
probably benign |
Het |
| Slc25a19 |
T |
C |
11: 115,507,497 (GRCm39) |
|
probably null |
Het |
| Snx29 |
A |
C |
16: 11,221,371 (GRCm39) |
I266L |
probably damaging |
Het |
| Spo11 |
T |
C |
2: 172,831,193 (GRCm39) |
S255P |
probably damaging |
Het |
| Spock3 |
T |
C |
8: 63,698,158 (GRCm39) |
V167A |
possibly damaging |
Het |
| Tmc7 |
A |
G |
7: 118,158,077 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
A |
G |
14: 123,170,743 (GRCm39) |
V509A |
possibly damaging |
Het |
| Trim24 |
A |
G |
6: 37,935,547 (GRCm39) |
D880G |
probably benign |
Het |
| Ube2j2 |
G |
A |
4: 156,030,841 (GRCm39) |
M1I |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,163,480 (GRCm39) |
C2627S |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,205,775 (GRCm39) |
M512K |
possibly damaging |
Het |
| Usp18 |
A |
G |
6: 121,229,479 (GRCm39) |
R33G |
possibly damaging |
Het |
| Utp23 |
T |
A |
15: 51,745,569 (GRCm39) |
V23D |
probably damaging |
Het |
| Wdr17 |
T |
A |
8: 55,118,161 (GRCm39) |
M512L |
possibly damaging |
Het |
| Wdr64 |
T |
A |
1: 175,553,941 (GRCm39) |
|
probably null |
Het |
| Zbtb6 |
T |
C |
2: 37,319,251 (GRCm39) |
T226A |
probably benign |
Het |
| Zc3hc1 |
T |
A |
6: 30,375,987 (GRCm39) |
H191L |
possibly damaging |
Het |
| Zdhhc4 |
C |
A |
5: 143,310,688 (GRCm39) |
C48F |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,736,588 (GRCm39) |
T1016S |
probably benign |
Het |
| Zfp583 |
A |
G |
7: 6,328,473 (GRCm39) |
Y39H |
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 |
|
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'- CATCCGGTCTCTTCTATGATAGTG -3'
(R):5'- TCCAGGCCTGTGTAATGTG -3'
Sequencing Primer
(F):5'- CCATCAGCAGTTCTACCT -3'
(R):5'- CCAGGCCTGTGTAATGTGATAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation