Incidental Mutation 'R1967:Abca6'
| ID |
219090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca6
|
| Ensembl Gene |
ENSMUSG00000044749 |
| Gene Name |
ATP-binding cassette, sub-family A member 6 |
| Synonyms |
6330565N06Rik |
| MMRRC Submission |
039980-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
110067646-110142602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110077974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1278
(I1278V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044003]
|
| AlphaFold |
Q8K441 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044003
AA Change: I1278V
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000035458
Gene: ENSMUSG00000044749
AA Change: I1278V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
28 |
416 |
1.4e-42 |
PFAM |
|
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
|
AAA
|
506 |
691 |
1.13e-6 |
SMART |
|
transmembrane domain
|
854 |
876 |
N/A |
INTRINSIC |
|
transmembrane domain
|
971 |
990 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1005 |
1027 |
N/A |
INTRINSIC |
|
Blast:AAA
|
1041 |
1176 |
4e-21 |
BLAST |
|
transmembrane domain
|
1191 |
1213 |
N/A |
INTRINSIC |
|
low complexity region
|
1243 |
1254 |
N/A |
INTRINSIC |
|
AAA
|
1312 |
1505 |
2.43e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
A |
C |
15: 37,439,842 (GRCm39) |
|
probably benign |
Het |
| Adamts15 |
C |
T |
9: 30,832,605 (GRCm39) |
W310* |
probably null |
Het |
| Adamts6 |
T |
A |
13: 104,563,459 (GRCm39) |
C650* |
probably null |
Het |
| Akap3 |
G |
T |
6: 126,842,061 (GRCm39) |
G227C |
probably benign |
Het |
| Alox12e |
A |
T |
11: 70,208,682 (GRCm39) |
S457T |
probably benign |
Het |
| Angpt1 |
C |
A |
15: 42,301,703 (GRCm39) |
C435F |
probably damaging |
Het |
| Anxa9 |
T |
C |
3: 95,207,919 (GRCm39) |
Q207R |
probably benign |
Het |
| Aplnr |
A |
T |
2: 84,967,950 (GRCm39) |
D325V |
probably benign |
Het |
| Art2b |
A |
C |
7: 101,229,414 (GRCm39) |
F162V |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,298,672 (GRCm39) |
S96P |
probably damaging |
Het |
| Bnc1 |
A |
T |
7: 81,623,384 (GRCm39) |
H614Q |
probably benign |
Het |
| C6 |
A |
G |
15: 4,789,302 (GRCm39) |
D249G |
probably damaging |
Het |
| Camta1 |
A |
T |
4: 151,173,430 (GRCm39) |
F977I |
probably damaging |
Het |
| Chil6 |
T |
C |
3: 106,298,470 (GRCm39) |
S188G |
possibly damaging |
Het |
| Cntrob |
A |
T |
11: 69,211,789 (GRCm39) |
L145Q |
probably damaging |
Het |
| Coro7 |
T |
C |
16: 4,452,753 (GRCm39) |
E306G |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,232,904 (GRCm39) |
V1141G |
probably benign |
Het |
| Cpq |
T |
C |
15: 33,497,348 (GRCm39) |
S363P |
possibly damaging |
Het |
| Ctc1 |
A |
G |
11: 68,918,688 (GRCm39) |
|
probably null |
Het |
| Defb43 |
T |
A |
14: 63,255,246 (GRCm39) |
N26K |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,734,845 (GRCm39) |
T41A |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,974,545 (GRCm39) |
L11P |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,564,288 (GRCm39) |
V26A |
probably benign |
Het |
| Fam13c |
A |
G |
10: 70,387,565 (GRCm39) |
D443G |
probably damaging |
Het |
| Fam227a |
G |
A |
15: 79,521,335 (GRCm39) |
L243F |
possibly damaging |
Het |
| Fat3 |
T |
G |
9: 15,879,591 (GRCm39) |
R3301S |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,046,578 (GRCm39) |
T461A |
probably benign |
Het |
| Fgf8 |
T |
A |
19: 45,730,007 (GRCm39) |
S61C |
probably damaging |
Het |
| Fgfrl1 |
A |
G |
5: 108,852,871 (GRCm39) |
E100G |
probably damaging |
Het |
| Gabra4 |
G |
A |
5: 71,729,412 (GRCm39) |
S456F |
possibly damaging |
Het |
| Gas6 |
T |
C |
8: 13,520,317 (GRCm39) |
E457G |
probably damaging |
Het |
| Gpr33 |
G |
A |
12: 52,070,991 (GRCm39) |
S16L |
probably benign |
Het |
| Greb1l |
A |
C |
18: 10,501,049 (GRCm39) |
N393T |
possibly damaging |
Het |
| Gtpbp4 |
T |
C |
13: 9,027,340 (GRCm39) |
K492E |
probably benign |
Het |
| Hsf2bp |
A |
T |
17: 32,206,378 (GRCm39) |
L251* |
probably null |
Het |
| Hyal5 |
A |
T |
6: 24,876,193 (GRCm39) |
Q22L |
possibly damaging |
Het |
| Itih1 |
A |
T |
14: 30,663,941 (GRCm39) |
V114E |
possibly damaging |
Het |
| Jak3 |
T |
A |
8: 72,134,179 (GRCm39) |
I427N |
probably damaging |
Het |
| Jcad |
T |
C |
18: 4,675,162 (GRCm39) |
S975P |
probably benign |
Het |
| Kcng4 |
A |
G |
8: 120,359,662 (GRCm39) |
V238A |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,529,417 (GRCm39) |
D315G |
probably damaging |
Het |
| Klrh1 |
A |
T |
6: 129,752,798 (GRCm39) |
N2K |
possibly damaging |
Het |
| Krt5 |
T |
C |
15: 101,620,094 (GRCm39) |
N208D |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,137,651 (GRCm39) |
H551Q |
probably benign |
Het |
| Lrp8 |
G |
T |
4: 107,717,168 (GRCm39) |
G732V |
probably damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,096,553 (GRCm39) |
D288G |
unknown |
Het |
| Lrrc4b |
GAGAAG |
GAG |
7: 44,111,654 (GRCm39) |
|
probably benign |
Het |
| Mas1 |
A |
G |
17: 13,060,923 (GRCm39) |
Y167H |
probably benign |
Het |
| Mcm8 |
A |
C |
2: 132,684,662 (GRCm39) |
I759L |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,899,387 (GRCm39) |
D2148N |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,614,612 (GRCm39) |
I255K |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,104,273 (GRCm39) |
N980S |
probably benign |
Het |
| Nap1l4 |
T |
A |
7: 143,088,024 (GRCm39) |
Q178L |
probably damaging |
Het |
| Ncapg |
T |
A |
5: 45,857,252 (GRCm39) |
L988Q |
probably damaging |
Het |
| Ncf2 |
A |
T |
1: 152,706,123 (GRCm39) |
H245L |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,036 (GRCm39) |
E164G |
possibly damaging |
Het |
| Nf1 |
G |
A |
11: 79,303,571 (GRCm39) |
R416H |
probably damaging |
Het |
| Obscn |
G |
A |
11: 59,026,535 (GRCm39) |
Q223* |
probably null |
Het |
| Or10q1 |
T |
A |
19: 13,727,417 (GRCm39) |
*316R |
probably null |
Het |
| Or2o1 |
T |
C |
11: 49,051,675 (GRCm39) |
I278T |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,612,715 (GRCm39) |
N558K |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,542,422 (GRCm39) |
M1253K |
possibly damaging |
Het |
| Pla2g4a |
A |
G |
1: 149,797,832 (GRCm39) |
V22A |
probably damaging |
Het |
| Plppr5 |
G |
A |
3: 117,419,555 (GRCm39) |
|
probably null |
Het |
| Pnpla2 |
T |
C |
7: 141,039,345 (GRCm39) |
S353P |
probably benign |
Het |
| Pom121 |
A |
T |
5: 135,420,608 (GRCm39) |
L271Q |
unknown |
Het |
| Prepl |
A |
T |
17: 85,395,979 (GRCm39) |
M1K |
probably null |
Het |
| Prr14l |
A |
G |
5: 33,001,813 (GRCm39) |
|
probably benign |
Het |
| Psmc3 |
C |
A |
2: 90,888,189 (GRCm39) |
P325T |
probably benign |
Het |
| Psme2b |
A |
G |
11: 48,836,896 (GRCm39) |
V17A |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,393,863 (GRCm39) |
I23V |
probably benign |
Het |
| Rab31 |
A |
G |
17: 66,079,499 (GRCm39) |
|
probably null |
Het |
| Ranbp6 |
T |
A |
19: 29,789,900 (GRCm39) |
K151* |
probably null |
Het |
| Rbm12b1 |
A |
T |
4: 12,146,304 (GRCm39) |
I759L |
probably benign |
Het |
| Rgs5 |
T |
C |
1: 169,504,425 (GRCm39) |
I25T |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,371,721 (GRCm39) |
V4842A |
probably damaging |
Het |
| Rtl9 |
A |
T |
X: 141,886,037 (GRCm39) |
I1150F |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,158,769 (GRCm39) |
W384R |
probably damaging |
Het |
| Sema5a |
C |
T |
15: 32,681,765 (GRCm39) |
P948L |
probably damaging |
Het |
| Slc26a3 |
G |
A |
12: 31,515,777 (GRCm39) |
R559Q |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,552,243 (GRCm39) |
V267A |
probably benign |
Het |
| Spata22 |
A |
G |
11: 73,221,953 (GRCm39) |
|
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,454 (GRCm39) |
I909L |
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,795,327 (GRCm39) |
R1595L |
probably benign |
Het |
| Tfdp1 |
T |
C |
8: 13,423,039 (GRCm39) |
S315P |
possibly damaging |
Het |
| Tle1 |
A |
T |
4: 72,038,463 (GRCm39) |
V688E |
probably damaging |
Het |
| Tmem129 |
A |
T |
5: 33,812,665 (GRCm39) |
|
probably null |
Het |
| Tmprss11a |
G |
A |
5: 86,579,702 (GRCm39) |
T91I |
probably benign |
Het |
| Tnfsf14 |
A |
G |
17: 57,497,807 (GRCm39) |
Y142H |
probably damaging |
Het |
| Tph1 |
T |
C |
7: 46,311,538 (GRCm39) |
D68G |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,592,631 (GRCm39) |
S12507T |
probably damaging |
Het |
| Tubgcp2 |
T |
A |
7: 139,586,066 (GRCm39) |
M408L |
probably benign |
Het |
| Usp34 |
A |
T |
11: 23,314,503 (GRCm39) |
H815L |
probably benign |
Het |
| Usp6nl |
G |
A |
2: 6,446,330 (GRCm39) |
R746H |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,652,841 (GRCm39) |
S358P |
probably benign |
Het |
| Vmn2r118 |
G |
A |
17: 55,899,882 (GRCm39) |
T674I |
probably damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,950,249 (GRCm39) |
H199Q |
probably benign |
Het |
| Vmn2r9 |
A |
G |
5: 108,995,388 (GRCm39) |
V420A |
probably benign |
Het |
| Vmn2r99 |
A |
T |
17: 19,599,077 (GRCm39) |
T254S |
probably benign |
Het |
| Zbed5 |
A |
G |
5: 129,930,510 (GRCm39) |
H132R |
possibly damaging |
Het |
| Zfp568 |
A |
G |
7: 29,688,513 (GRCm39) |
E25G |
probably damaging |
Het |
| Zfp951 |
T |
A |
5: 104,964,866 (GRCm39) |
I67L |
possibly damaging |
Het |
|
| Other mutations in Abca6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Abca6
|
APN |
11 |
110,075,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00569:Abca6
|
APN |
11 |
110,077,875 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00737:Abca6
|
APN |
11 |
110,087,823 (GRCm39) |
splice site |
probably benign |
|
|
IGL01024:Abca6
|
APN |
11 |
110,087,968 (GRCm39) |
missense |
probably benign |
|
|
IGL01087:Abca6
|
APN |
11 |
110,082,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01511:Abca6
|
APN |
11 |
110,135,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01516:Abca6
|
APN |
11 |
110,109,043 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01621:Abca6
|
APN |
11 |
110,075,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01749:Abca6
|
APN |
11 |
110,135,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01934:Abca6
|
APN |
11 |
110,079,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02010:Abca6
|
APN |
11 |
110,110,442 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02121:Abca6
|
APN |
11 |
110,073,750 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02423:Abca6
|
APN |
11 |
110,109,832 (GRCm39) |
splice site |
probably benign |
|
|
IGL02428:Abca6
|
APN |
11 |
110,069,618 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02491:Abca6
|
APN |
11 |
110,067,794 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02541:Abca6
|
APN |
11 |
110,103,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02792:Abca6
|
APN |
11 |
110,079,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02836:Abca6
|
APN |
11 |
110,139,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02965:Abca6
|
APN |
11 |
110,071,439 (GRCm39) |
missense |
probably benign |
|
|
IGL03094:Abca6
|
APN |
11 |
110,074,938 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03109:Abca6
|
APN |
11 |
110,071,173 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0068:Abca6
|
UTSW |
11 |
110,073,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Abca6
|
UTSW |
11 |
110,079,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Abca6
|
UTSW |
11 |
110,110,430 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0254:Abca6
|
UTSW |
11 |
110,127,615 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0598:Abca6
|
UTSW |
11 |
110,087,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0992:Abca6
|
UTSW |
11 |
110,102,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Abca6
|
UTSW |
11 |
110,135,081 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1642:Abca6
|
UTSW |
11 |
110,109,107 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1673:Abca6
|
UTSW |
11 |
110,103,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1792:Abca6
|
UTSW |
11 |
110,074,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1813:Abca6
|
UTSW |
11 |
110,124,671 (GRCm39) |
splice site |
probably benign |
|
|
R1817:Abca6
|
UTSW |
11 |
110,110,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1842:Abca6
|
UTSW |
11 |
110,087,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1898:Abca6
|
UTSW |
11 |
110,099,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1914:Abca6
|
UTSW |
11 |
110,103,036 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1915:Abca6
|
UTSW |
11 |
110,103,036 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1934:Abca6
|
UTSW |
11 |
110,100,909 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1964:Abca6
|
UTSW |
11 |
110,075,502 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2127:Abca6
|
UTSW |
11 |
110,110,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2128:Abca6
|
UTSW |
11 |
110,110,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2164:Abca6
|
UTSW |
11 |
110,101,019 (GRCm39) |
frame shift |
probably null |
|
|
R2895:Abca6
|
UTSW |
11 |
110,093,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3110:Abca6
|
UTSW |
11 |
110,069,655 (GRCm39) |
nonsense |
probably null |
|
|
R3111:Abca6
|
UTSW |
11 |
110,069,655 (GRCm39) |
nonsense |
probably null |
|
|
R3112:Abca6
|
UTSW |
11 |
110,069,655 (GRCm39) |
nonsense |
probably null |
|
|
R4094:Abca6
|
UTSW |
11 |
110,071,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4432:Abca6
|
UTSW |
11 |
110,132,414 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4474:Abca6
|
UTSW |
11 |
110,124,598 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4572:Abca6
|
UTSW |
11 |
110,107,374 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4629:Abca6
|
UTSW |
11 |
110,121,375 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4793:Abca6
|
UTSW |
11 |
110,082,544 (GRCm39) |
missense |
probably benign |
|
|
R4852:Abca6
|
UTSW |
11 |
110,135,029 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4867:Abca6
|
UTSW |
11 |
110,093,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4879:Abca6
|
UTSW |
11 |
110,110,526 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4918:Abca6
|
UTSW |
11 |
110,071,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5060:Abca6
|
UTSW |
11 |
110,110,430 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5062:Abca6
|
UTSW |
11 |
110,067,892 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5083:Abca6
|
UTSW |
11 |
110,109,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5173:Abca6
|
UTSW |
11 |
110,082,546 (GRCm39) |
missense |
probably benign |
|
|
R5393:Abca6
|
UTSW |
11 |
110,135,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5484:Abca6
|
UTSW |
11 |
110,074,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Abca6
|
UTSW |
11 |
110,099,670 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5503:Abca6
|
UTSW |
11 |
110,109,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5645:Abca6
|
UTSW |
11 |
110,141,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5680:Abca6
|
UTSW |
11 |
110,127,471 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5761:Abca6
|
UTSW |
11 |
110,100,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5779:Abca6
|
UTSW |
11 |
110,075,496 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5818:Abca6
|
UTSW |
11 |
110,110,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6282:Abca6
|
UTSW |
11 |
110,099,650 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6455:Abca6
|
UTSW |
11 |
110,132,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6826:Abca6
|
UTSW |
11 |
110,107,431 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6857:Abca6
|
UTSW |
11 |
110,110,514 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6914:Abca6
|
UTSW |
11 |
110,081,064 (GRCm39) |
missense |
probably benign |
|
|
R6931:Abca6
|
UTSW |
11 |
110,135,154 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7222:Abca6
|
UTSW |
11 |
110,082,519 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7242:Abca6
|
UTSW |
11 |
110,132,479 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7297:Abca6
|
UTSW |
11 |
110,073,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7387:Abca6
|
UTSW |
11 |
110,093,246 (GRCm39) |
missense |
probably benign |
|
|
R7420:Abca6
|
UTSW |
11 |
110,141,303 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7494:Abca6
|
UTSW |
11 |
110,099,571 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7603:Abca6
|
UTSW |
11 |
110,071,084 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7637:Abca6
|
UTSW |
11 |
110,109,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7674:Abca6
|
UTSW |
11 |
110,110,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Abca6
|
UTSW |
11 |
110,074,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Abca6
|
UTSW |
11 |
110,078,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7842:Abca6
|
UTSW |
11 |
110,087,523 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7855:Abca6
|
UTSW |
11 |
110,082,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8119:Abca6
|
UTSW |
11 |
110,087,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8139:Abca6
|
UTSW |
11 |
110,074,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8176:Abca6
|
UTSW |
11 |
110,135,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8179:Abca6
|
UTSW |
11 |
110,136,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Abca6
|
UTSW |
11 |
110,102,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8241:Abca6
|
UTSW |
11 |
110,079,456 (GRCm39) |
missense |
probably null |
1.00 |
|
R8404:Abca6
|
UTSW |
11 |
110,110,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8429:Abca6
|
UTSW |
11 |
110,093,208 (GRCm39) |
missense |
probably benign |
|
|
R8502:Abca6
|
UTSW |
11 |
110,110,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8816:Abca6
|
UTSW |
11 |
110,127,513 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8964:Abca6
|
UTSW |
11 |
110,139,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9153:Abca6
|
UTSW |
11 |
110,107,481 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9233:Abca6
|
UTSW |
11 |
110,082,496 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9407:Abca6
|
UTSW |
11 |
110,093,210 (GRCm39) |
nonsense |
probably null |
|
|
R9412:Abca6
|
UTSW |
11 |
110,103,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9453:Abca6
|
UTSW |
11 |
110,138,090 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9533:Abca6
|
UTSW |
11 |
110,102,582 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9546:Abca6
|
UTSW |
11 |
110,135,042 (GRCm39) |
nonsense |
probably null |
|
|
R9650:Abca6
|
UTSW |
11 |
110,071,446 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9702:Abca6
|
UTSW |
11 |
110,107,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Abca6
|
UTSW |
11 |
110,102,589 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:Abca6
|
UTSW |
11 |
110,135,081 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0064:Abca6
|
UTSW |
11 |
110,087,968 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATATCCTCTTGGAGACACGGG -3'
(R):5'- GTTTGGGAGTCAGAGACACTG -3'
Sequencing Primer
(F):5'- CTCTTGGAGACACGGGGAAGG -3'
(R):5'- ACACTGTATGTCCATGAACGTGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation