Incidental Mutation 'R9709:Abca6'
ID |
729997 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abca6
|
Ensembl Gene |
ENSMUSG00000044749 |
Gene Name |
ATP-binding cassette, sub-family A member 6 |
Synonyms |
6330565N06Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9709 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
110067646-110142602 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 110102589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 878
(L878F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044003]
|
AlphaFold |
Q8K441 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044003
AA Change: L878F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000035458 Gene: ENSMUSG00000044749 AA Change: L878F
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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
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: 100 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810062G17Rik |
T |
C |
3: 36,530,356 (GRCm39) |
S25P |
unknown |
Het |
4921539E11Rik |
A |
G |
4: 103,092,678 (GRCm39) |
I268T |
unknown |
Het |
4930507D05Rik |
T |
A |
10: 62,285,581 (GRCm39) |
C102S |
unknown |
Het |
Abca14 |
T |
A |
7: 119,888,739 (GRCm39) |
Y1228* |
probably null |
Het |
Abca17 |
T |
C |
17: 24,517,934 (GRCm39) |
I792V |
probably benign |
Het |
Adk |
C |
A |
14: 21,126,386 (GRCm39) |
T4N |
probably benign |
Het |
Ankrd40cl |
G |
A |
11: 94,175,560 (GRCm39) |
S65N |
probably benign |
Het |
Atg2b |
A |
T |
12: 105,611,140 (GRCm39) |
F1264I |
probably damaging |
Het |
Atl3 |
T |
G |
19: 7,507,921 (GRCm39) |
S358A |
probably benign |
Het |
Atp8a2 |
T |
A |
14: 60,271,187 (GRCm39) |
Y248F |
probably damaging |
Het |
Bcas3 |
T |
C |
11: 85,474,749 (GRCm39) |
V785A |
probably damaging |
Het |
Cckar |
C |
T |
5: 53,860,201 (GRCm39) |
|
probably null |
Het |
Cdc42se2 |
A |
G |
11: 54,614,417 (GRCm39) |
F47L |
probably benign |
Het |
Cfap58 |
T |
C |
19: 47,963,992 (GRCm39) |
L540P |
probably damaging |
Het |
Copg1 |
A |
G |
6: 87,868,957 (GRCm39) |
E117G |
probably benign |
Het |
Cstpp1 |
T |
C |
2: 91,112,099 (GRCm39) |
Q250R |
probably benign |
Het |
Cul2 |
C |
T |
18: 3,431,560 (GRCm39) |
T655M |
probably damaging |
Het |
Ddi2 |
T |
C |
4: 141,412,429 (GRCm39) |
Q161R |
probably benign |
Het |
Dffb |
T |
C |
4: 154,059,121 (GRCm39) |
Y52C |
probably damaging |
Het |
Dll1 |
T |
C |
17: 15,591,198 (GRCm39) |
Q249R |
probably benign |
Het |
Dnmt3a |
T |
A |
12: 3,957,701 (GRCm39) |
I894N |
probably damaging |
Het |
Fshr |
G |
A |
17: 89,293,265 (GRCm39) |
T471I |
probably damaging |
Het |
Gabpb1 |
C |
T |
2: 126,500,488 (GRCm39) |
V4I |
probably benign |
Het |
Gbp9 |
T |
C |
5: 105,231,542 (GRCm39) |
Q348R |
probably damaging |
Het |
Gm21149 |
G |
A |
5: 15,677,110 (GRCm39) |
S248F |
unknown |
Het |
Gpr152 |
C |
A |
19: 4,192,640 (GRCm39) |
H60Q |
probably benign |
Het |
Hdac9 |
A |
G |
12: 34,362,602 (GRCm39) |
S612P |
probably benign |
Het |
Hhipl2 |
A |
G |
1: 183,199,747 (GRCm39) |
D102G |
possibly damaging |
Het |
Hspa9 |
A |
G |
18: 35,073,294 (GRCm39) |
V530A |
possibly damaging |
Het |
Igfbp7 |
T |
C |
5: 77,549,384 (GRCm39) |
N173S |
unknown |
Het |
Ighv1-75 |
A |
G |
12: 115,797,791 (GRCm39) |
S44P |
possibly damaging |
Het |
Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
Itgax |
G |
T |
7: 127,735,500 (GRCm39) |
G523W |
probably damaging |
Het |
Itih3 |
A |
G |
14: 30,637,587 (GRCm39) |
|
probably null |
Het |
Kcnb2 |
T |
C |
1: 15,780,523 (GRCm39) |
I465T |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,279,228 (GRCm39) |
V1478A |
probably damaging |
Het |
Ky |
A |
T |
9: 102,419,411 (GRCm39) |
I473F |
probably damaging |
Het |
Lbr |
A |
G |
1: 181,666,034 (GRCm39) |
V25A |
probably damaging |
Het |
Ldlr |
A |
G |
9: 21,657,135 (GRCm39) |
T751A |
probably benign |
Het |
Lrrtm4 |
A |
G |
6: 80,786,154 (GRCm39) |
E587G |
probably damaging |
Het |
Lvrn |
A |
C |
18: 47,006,847 (GRCm39) |
|
probably null |
Het |
Mast2 |
A |
T |
4: 116,173,044 (GRCm39) |
C594S |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,910,711 (GRCm39) |
V644A |
probably damaging |
Het |
Mcm5 |
T |
C |
8: 75,842,604 (GRCm39) |
Y293H |
probably damaging |
Het |
Mthfd2 |
A |
T |
6: 83,283,665 (GRCm39) |
V339E |
possibly damaging |
Het |
Muc4 |
A |
T |
16: 32,590,644 (GRCm39) |
I881F |
|
Het |
Myo7a |
A |
G |
7: 97,743,536 (GRCm39) |
S372P |
possibly damaging |
Het |
Nbea |
T |
A |
3: 55,693,879 (GRCm39) |
K2180* |
probably null |
Het |
Neb |
T |
C |
2: 52,101,507 (GRCm39) |
D4621G |
probably damaging |
Het |
Nefh |
C |
T |
11: 4,890,042 (GRCm39) |
S859N |
probably benign |
Het |
Nek2 |
T |
A |
1: 191,563,289 (GRCm39) |
H384Q |
possibly damaging |
Het |
Nfkb2 |
A |
G |
19: 46,298,782 (GRCm39) |
E645G |
probably benign |
Het |
Nin |
G |
T |
12: 70,149,468 (GRCm39) |
P47Q |
|
Het |
Nit1 |
C |
A |
1: 171,171,307 (GRCm39) |
K178N |
probably benign |
Het |
Nrap |
C |
A |
19: 56,317,452 (GRCm39) |
K1433N |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,317,453 (GRCm39) |
K1433R |
probably benign |
Het |
Nup85 |
A |
G |
11: 115,457,463 (GRCm39) |
Y55C |
possibly damaging |
Het |
Or2a14 |
G |
T |
6: 43,130,469 (GRCm39) |
V77F |
possibly damaging |
Het |
Pde1b |
A |
G |
15: 103,411,985 (GRCm39) |
K29E |
probably benign |
Het |
Pheta2 |
G |
T |
15: 82,227,537 (GRCm39) |
D19Y |
probably damaging |
Het |
Pheta2 |
C |
G |
15: 82,227,535 (GRCm39) |
A18G |
probably damaging |
Het |
Pik3cg |
A |
T |
12: 32,226,687 (GRCm39) |
Y1067N |
probably benign |
Het |
Pkd1l1 |
C |
T |
11: 8,799,016 (GRCm39) |
G2249S |
probably damaging |
Het |
Plppr4 |
T |
A |
3: 117,121,976 (GRCm39) |
T201S |
possibly damaging |
Het |
Polr1e |
A |
G |
4: 45,018,678 (GRCm39) |
T3A |
probably benign |
Het |
Polr1has |
A |
T |
17: 37,275,249 (GRCm39) |
R7S |
probably benign |
Het |
Pou6f2 |
G |
T |
13: 18,414,389 (GRCm39) |
Q129K |
unknown |
Het |
Ppil4 |
T |
A |
10: 7,675,341 (GRCm39) |
D163E |
probably benign |
Het |
Pradc1 |
A |
G |
6: 85,424,952 (GRCm39) |
F82L |
probably benign |
Het |
Psd3 |
T |
C |
8: 68,194,414 (GRCm39) |
K784R |
probably null |
Het |
Ptgs1 |
C |
A |
2: 36,141,204 (GRCm39) |
S550R |
probably damaging |
Het |
Pxylp1 |
A |
G |
9: 96,711,030 (GRCm39) |
L153P |
probably damaging |
Het |
Rgs10 |
A |
C |
7: 127,975,729 (GRCm39) |
F146C |
probably damaging |
Het |
Rimbp2 |
G |
A |
5: 128,874,875 (GRCm39) |
P239S |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,112,255 (GRCm39) |
Y1199H |
unknown |
Het |
Rrp12 |
A |
T |
19: 41,857,231 (GRCm39) |
M1181K |
probably benign |
Het |
Rundc3b |
T |
C |
5: 8,570,982 (GRCm39) |
N279S |
probably benign |
Het |
Sbf2 |
G |
T |
7: 110,027,514 (GRCm39) |
P494Q |
probably damaging |
Het |
Scnn1b |
A |
G |
7: 121,509,693 (GRCm39) |
T281A |
probably benign |
Het |
Scube2 |
A |
T |
7: 109,430,971 (GRCm39) |
N409K |
probably damaging |
Het |
Serpina3m |
A |
C |
12: 104,359,008 (GRCm39) |
D340A |
probably damaging |
Het |
Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
Sgpp2 |
T |
C |
1: 78,367,200 (GRCm39) |
I111T |
probably benign |
Het |
Shprh |
C |
T |
10: 11,038,574 (GRCm39) |
T443I |
possibly damaging |
Het |
Sis |
T |
A |
3: 72,799,074 (GRCm39) |
Y1726F |
possibly damaging |
Het |
Slc17a9 |
T |
C |
2: 180,374,321 (GRCm39) |
L129P |
probably damaging |
Het |
Slc1a5 |
T |
A |
7: 16,527,729 (GRCm39) |
F342I |
probably benign |
Het |
Slc4a4 |
T |
A |
5: 89,188,205 (GRCm39) |
|
probably null |
Het |
Slco3a1 |
T |
C |
7: 73,952,957 (GRCm39) |
E534G |
possibly damaging |
Het |
Smok2b |
A |
T |
17: 13,454,052 (GRCm39) |
I71F |
possibly damaging |
Het |
Tmbim7 |
A |
T |
5: 3,711,809 (GRCm39) |
H18L |
probably damaging |
Het |
Tmem151a |
A |
T |
19: 5,131,876 (GRCm39) |
Y443* |
probably null |
Het |
Tnks1bp1 |
T |
G |
2: 84,902,125 (GRCm39) |
S1674A |
probably benign |
Het |
Trappc11 |
T |
A |
8: 47,946,348 (GRCm39) |
I1095F |
probably damaging |
Het |
Trim11 |
A |
G |
11: 58,872,864 (GRCm39) |
R183G |
possibly damaging |
Het |
Trim29 |
A |
G |
9: 43,231,797 (GRCm39) |
D348G |
probably benign |
Het |
Ttc28 |
A |
T |
5: 111,433,637 (GRCm39) |
S2224C |
probably damaging |
Het |
Vps13d |
C |
T |
4: 144,875,915 (GRCm39) |
V1537M |
|
Het |
Zfp1005 |
T |
A |
2: 150,110,305 (GRCm39) |
C332S |
possibly damaging |
Het |
Zfp184 |
A |
G |
13: 22,143,665 (GRCm39) |
D457G |
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 |
R1967:Abca6
|
UTSW |
11 |
110,077,974 (GRCm39) |
missense |
probably benign |
0.09 |
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 |
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'- AGGAACCTGTATTCTGCTCCTC -3'
(R):5'- TGTCAGCACTTAACATTATGGTTGC -3'
Sequencing Primer
(F):5'- GAACCTGTATTCTGCTCCTCACAAG -3'
(R):5'- AGCCAATGCCGTTGAGA -3'
|
Posted On |
2022-10-06 |