Incidental Mutation 'R1822:Abca8b'
| ID |
206500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca8b
|
| Ensembl Gene |
ENSMUSG00000020620 |
| Gene Name |
ATP-binding cassette, sub-family A member 8b |
| Synonyms |
Abca8 |
| MMRRC Submission |
039850-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1822 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
109823016-109886671 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 109847901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 798
(T798K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102280
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020948]
[ENSMUST00000106669]
|
| AlphaFold |
Q8K440 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020948
AA Change: T860K
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020948
Gene: ENSMUSG00000020620
AA Change: T860K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
28 |
417 |
3.9e-28 |
PFAM |
|
AAA
|
507 |
691 |
6.36e-10 |
SMART |
|
Pfam:ABC2_membrane_3
|
859 |
1215 |
1e-10 |
PFAM |
|
low complexity region
|
1246 |
1255 |
N/A |
INTRINSIC |
|
AAA
|
1313 |
1492 |
6.17e-8 |
SMART |
|
low complexity region
|
1597 |
1607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106669
AA Change: T798K
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102280
Gene: ENSMUSG00000020620
AA Change: T798K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC2_membrane_3
|
28 |
344 |
2.6e-16 |
PFAM |
|
AAA
|
445 |
629 |
6.36e-10 |
SMART |
|
transmembrane domain
|
798 |
815 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1001 |
1023 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1038 |
1060 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1072 |
1091 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1101 |
1123 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1136 |
1158 |
N/A |
INTRINSIC |
|
low complexity region
|
1184 |
1193 |
N/A |
INTRINSIC |
|
AAA
|
1251 |
1430 |
6.17e-8 |
SMART |
|
low complexity region
|
1535 |
1545 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
| Validation Efficiency |
97% (105/108) |
| 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, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
T |
C |
6: 88,813,536 (GRCm39) |
T401A |
probably benign |
Het |
| Adsl |
G |
T |
15: 80,846,943 (GRCm39) |
E70* |
probably null |
Het |
| Ahcyl2 |
A |
G |
6: 29,768,583 (GRCm39) |
|
probably benign |
Het |
| Akr1a1 |
A |
G |
4: 116,493,850 (GRCm39) |
V310A |
probably benign |
Het |
| Alpk3 |
T |
A |
7: 80,726,679 (GRCm39) |
C121* |
probably null |
Het |
| Amph |
T |
A |
13: 19,132,625 (GRCm39) |
I8N |
probably damaging |
Het |
| Ano2 |
G |
A |
6: 125,840,420 (GRCm39) |
A364T |
probably damaging |
Het |
| Apbb2 |
T |
C |
5: 66,557,520 (GRCm39) |
T314A |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,564,258 (GRCm39) |
T834A |
probably benign |
Het |
| Brca2 |
T |
G |
5: 150,463,663 (GRCm39) |
D1142E |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,693,814 (GRCm39) |
N1960S |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,768,823 (GRCm39) |
S210G |
probably benign |
Het |
| Capn2 |
C |
A |
1: 182,300,525 (GRCm39) |
E596D |
possibly damaging |
Het |
| Cdc27 |
A |
T |
11: 104,413,648 (GRCm39) |
S358R |
probably benign |
Het |
| Cdhr3 |
C |
T |
12: 33,095,204 (GRCm39) |
G622S |
probably null |
Het |
| Clip2 |
A |
G |
5: 134,532,081 (GRCm39) |
Y540H |
probably benign |
Het |
| Crhr1 |
A |
T |
11: 104,023,898 (GRCm39) |
M1L |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,273,340 (GRCm39) |
T831A |
probably damaging |
Het |
| Cwc22 |
T |
C |
2: 77,755,003 (GRCm39) |
|
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,921,763 (GRCm39) |
K390N |
probably damaging |
Het |
| Cyp4a31 |
T |
C |
4: 115,423,810 (GRCm39) |
|
probably null |
Het |
| Cytip |
A |
C |
2: 58,024,158 (GRCm39) |
S221A |
probably benign |
Het |
| Dagla |
G |
A |
19: 10,240,550 (GRCm39) |
R227C |
possibly damaging |
Het |
| Dhx57 |
A |
G |
17: 80,560,514 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,405,630 (GRCm39) |
D627E |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,138,422 (GRCm39) |
E1249G |
probably benign |
Het |
| Dpysl3 |
A |
G |
18: 43,475,393 (GRCm39) |
V31A |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,805,539 (GRCm39) |
|
probably null |
Het |
| Fan1 |
T |
C |
7: 64,022,554 (GRCm39) |
N233S |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,918,547 (GRCm39) |
I3528F |
probably damaging |
Het |
| Glipr1 |
T |
A |
10: 111,832,765 (GRCm39) |
M58L |
possibly damaging |
Het |
| Gm10509 |
C |
T |
17: 21,909,765 (GRCm39) |
P31S |
possibly damaging |
Het |
| Gm5070 |
T |
C |
3: 95,318,355 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd1a |
T |
C |
7: 30,841,998 (GRCm39) |
N138S |
probably damaging |
Het |
| Grk5 |
T |
C |
19: 61,078,410 (GRCm39) |
V489A |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,273,704 (GRCm39) |
S1352L |
probably damaging |
Het |
| Hoxa5 |
G |
A |
6: 52,179,712 (GRCm39) |
T221I |
probably damaging |
Het |
| Hsd17b2 |
C |
A |
8: 118,485,488 (GRCm39) |
P317Q |
possibly damaging |
Het |
| Ifi213 |
T |
A |
1: 173,417,408 (GRCm39) |
S335C |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,539,729 (GRCm39) |
D156V |
probably damaging |
Het |
| Khnyn |
A |
T |
14: 56,123,309 (GRCm39) |
E21V |
probably damaging |
Het |
| Kmt2d |
C |
T |
15: 98,759,661 (GRCm39) |
G1199E |
unknown |
Het |
| Lipk |
T |
C |
19: 34,016,491 (GRCm39) |
W240R |
probably benign |
Het |
| Lpar5 |
A |
G |
6: 125,058,378 (GRCm39) |
D33G |
possibly damaging |
Het |
| Lrp11 |
A |
G |
10: 7,471,961 (GRCm39) |
D219G |
probably damaging |
Het |
| Lrrcc1 |
T |
C |
3: 14,624,285 (GRCm39) |
|
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,047,837 (GRCm39) |
C252R |
probably damaging |
Het |
| Map2k5 |
A |
G |
9: 63,142,585 (GRCm39) |
F354L |
possibly damaging |
Het |
| Mlh3 |
T |
C |
12: 85,312,919 (GRCm39) |
|
probably benign |
Het |
| Mmp28 |
A |
G |
11: 83,335,045 (GRCm39) |
I331T |
probably damaging |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,345,091 (GRCm39) |
Y509F |
probably damaging |
Het |
| Nckap1 |
A |
G |
2: 80,348,242 (GRCm39) |
S898P |
possibly damaging |
Het |
| Nectin1 |
T |
A |
9: 43,702,374 (GRCm39) |
Y40* |
probably null |
Het |
| Neurl1a |
T |
A |
19: 47,245,898 (GRCm39) |
V493E |
probably benign |
Het |
| Ntf3 |
A |
C |
6: 126,079,209 (GRCm39) |
I99S |
probably benign |
Het |
| Or10ag53 |
T |
C |
2: 87,083,054 (GRCm39) |
S258P |
possibly damaging |
Het |
| Or1l4 |
C |
G |
2: 37,091,992 (GRCm39) |
H246Q |
probably damaging |
Het |
| Or1p1c |
A |
G |
11: 74,161,066 (GRCm39) |
T284A |
probably benign |
Het |
| Or2ak5 |
A |
T |
11: 58,611,133 (GRCm39) |
V247E |
probably damaging |
Het |
| Or2i1 |
A |
G |
17: 37,507,722 (GRCm39) |
|
probably benign |
Het |
| Or2y1c |
T |
A |
11: 49,361,795 (GRCm39) |
F272L |
probably benign |
Het |
| Or6k8-ps1 |
C |
T |
1: 173,979,780 (GRCm39) |
R233C |
probably benign |
Het |
| Otof |
G |
A |
5: 30,536,054 (GRCm39) |
T1343I |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,215,454 (GRCm39) |
Y125F |
probably benign |
Het |
| Pate3 |
G |
A |
9: 35,557,401 (GRCm39) |
T85I |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,317,150 (GRCm39) |
|
probably benign |
Het |
| Phf11d |
T |
C |
14: 59,593,778 (GRCm39) |
H132R |
probably benign |
Het |
| Pik3c3 |
G |
A |
18: 30,477,130 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
C |
A |
1: 20,417,681 (GRCm39) |
G2490V |
probably damaging |
Het |
| Prkdc |
G |
A |
16: 15,577,469 (GRCm39) |
D2372N |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,554,339 (GRCm39) |
E129K |
probably damaging |
Het |
| Pym1 |
G |
A |
10: 128,601,913 (GRCm39) |
|
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,334,372 (GRCm39) |
V1027E |
probably damaging |
Het |
| Rita1 |
T |
C |
5: 120,747,645 (GRCm39) |
T218A |
possibly damaging |
Het |
| Rrh |
T |
A |
3: 129,606,282 (GRCm39) |
T218S |
probably damaging |
Het |
| Scaper |
C |
T |
9: 55,767,184 (GRCm39) |
A416T |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,314,716 (GRCm39) |
L1115P |
probably damaging |
Het |
| Serpinb6e |
A |
T |
13: 34,017,217 (GRCm39) |
S268T |
probably damaging |
Het |
| Skic3 |
C |
A |
13: 76,278,407 (GRCm39) |
H574N |
probably benign |
Het |
| Slc1a6 |
G |
A |
10: 78,648,765 (GRCm39) |
W495* |
probably null |
Het |
| Slc32a1 |
A |
G |
2: 158,453,298 (GRCm39) |
H46R |
probably benign |
Het |
| Slc37a1 |
C |
T |
17: 31,519,405 (GRCm39) |
|
probably benign |
Het |
| Slc6a5 |
T |
A |
7: 49,606,173 (GRCm39) |
W694R |
probably benign |
Het |
| Smarcd2 |
A |
T |
11: 106,158,222 (GRCm39) |
D113E |
probably benign |
Het |
| Sod3 |
G |
T |
5: 52,525,504 (GRCm39) |
V68L |
probably benign |
Het |
| Srpk3 |
G |
A |
X: 72,821,561 (GRCm39) |
R425Q |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,469,820 (GRCm39) |
Q4506L |
possibly damaging |
Het |
| Stam2 |
T |
A |
2: 52,606,539 (GRCm39) |
E115D |
probably damaging |
Het |
| Sult1c2 |
A |
T |
17: 54,280,953 (GRCm39) |
L50H |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,119,770 (GRCm39) |
V22A |
possibly damaging |
Het |
| Togaram1 |
T |
G |
12: 65,042,409 (GRCm39) |
V1156G |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,398,854 (GRCm39) |
T192A |
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
| Vit |
A |
C |
17: 78,930,265 (GRCm39) |
Q410P |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,208,593 (GRCm39) |
G51S |
probably benign |
Het |
| Zfp341 |
A |
G |
2: 154,488,054 (GRCm39) |
E839G |
possibly damaging |
Het |
| Zhx3 |
G |
A |
2: 160,622,275 (GRCm39) |
L631F |
probably benign |
Het |
| Zmpste24 |
T |
C |
4: 120,944,513 (GRCm39) |
E95G |
possibly damaging |
Het |
|
| Other mutations in Abca8b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00862:Abca8b
|
APN |
11 |
109,844,374 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL00952:Abca8b
|
APN |
11 |
109,859,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01141:Abca8b
|
APN |
11 |
109,828,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01523:Abca8b
|
APN |
11 |
109,867,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01633:Abca8b
|
APN |
11 |
109,827,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01862:Abca8b
|
APN |
11 |
109,837,997 (GRCm39) |
nonsense |
probably null |
|
|
IGL01963:Abca8b
|
APN |
11 |
109,862,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02169:Abca8b
|
APN |
11 |
109,843,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02536:Abca8b
|
APN |
11 |
109,872,574 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02658:Abca8b
|
APN |
11 |
109,843,386 (GRCm39) |
missense |
probably benign |
|
|
IGL02828:Abca8b
|
APN |
11 |
109,871,720 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03118:Abca8b
|
APN |
11 |
109,838,007 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03302:Abca8b
|
APN |
11 |
109,858,576 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03325:Abca8b
|
APN |
11 |
109,844,422 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0057:Abca8b
|
UTSW |
11 |
109,832,385 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0131:Abca8b
|
UTSW |
11 |
109,833,115 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0226:Abca8b
|
UTSW |
11 |
109,847,844 (GRCm39) |
splice site |
probably null |
|
|
R0426:Abca8b
|
UTSW |
11 |
109,845,853 (GRCm39) |
splice site |
probably benign |
|
|
R0432:Abca8b
|
UTSW |
11 |
109,870,841 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0512:Abca8b
|
UTSW |
11 |
109,841,476 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0589:Abca8b
|
UTSW |
11 |
109,833,094 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0690:Abca8b
|
UTSW |
11 |
109,860,634 (GRCm39) |
splice site |
probably benign |
|
|
R1263:Abca8b
|
UTSW |
11 |
109,832,433 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1371:Abca8b
|
UTSW |
11 |
109,844,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1497:Abca8b
|
UTSW |
11 |
109,864,647 (GRCm39) |
splice site |
probably benign |
|
|
R1502:Abca8b
|
UTSW |
11 |
109,865,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1517:Abca8b
|
UTSW |
11 |
109,862,640 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1543:Abca8b
|
UTSW |
11 |
109,865,500 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1618:Abca8b
|
UTSW |
11 |
109,840,714 (GRCm39) |
splice site |
probably benign |
|
|
R1625:Abca8b
|
UTSW |
11 |
109,857,947 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1753:Abca8b
|
UTSW |
11 |
109,864,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1819:Abca8b
|
UTSW |
11 |
109,871,882 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1829:Abca8b
|
UTSW |
11 |
109,833,167 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1873:Abca8b
|
UTSW |
11 |
109,870,781 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1899:Abca8b
|
UTSW |
11 |
109,828,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1908:Abca8b
|
UTSW |
11 |
109,847,924 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1962:Abca8b
|
UTSW |
11 |
109,870,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1984:Abca8b
|
UTSW |
11 |
109,868,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2035:Abca8b
|
UTSW |
11 |
109,847,932 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2092:Abca8b
|
UTSW |
11 |
109,857,534 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2100:Abca8b
|
UTSW |
11 |
109,828,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Abca8b
|
UTSW |
11 |
109,845,974 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2871:Abca8b
|
UTSW |
11 |
109,846,002 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2871:Abca8b
|
UTSW |
11 |
109,846,002 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2872:Abca8b
|
UTSW |
11 |
109,846,002 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2872:Abca8b
|
UTSW |
11 |
109,846,002 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2873:Abca8b
|
UTSW |
11 |
109,846,002 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3711:Abca8b
|
UTSW |
11 |
109,837,081 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3937:Abca8b
|
UTSW |
11 |
109,865,393 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4052:Abca8b
|
UTSW |
11 |
109,872,551 (GRCm39) |
nonsense |
probably null |
|
|
R4060:Abca8b
|
UTSW |
11 |
109,848,027 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4207:Abca8b
|
UTSW |
11 |
109,872,551 (GRCm39) |
nonsense |
probably null |
|
|
R4208:Abca8b
|
UTSW |
11 |
109,872,551 (GRCm39) |
nonsense |
probably null |
|
|
R4354:Abca8b
|
UTSW |
11 |
109,862,518 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4399:Abca8b
|
UTSW |
11 |
109,827,211 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4456:Abca8b
|
UTSW |
11 |
109,833,071 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4509:Abca8b
|
UTSW |
11 |
109,857,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Abca8b
|
UTSW |
11 |
109,827,274 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4868:Abca8b
|
UTSW |
11 |
109,865,338 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5002:Abca8b
|
UTSW |
11 |
109,852,623 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5007:Abca8b
|
UTSW |
11 |
109,827,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5014:Abca8b
|
UTSW |
11 |
109,840,957 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5023:Abca8b
|
UTSW |
11 |
109,865,814 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5091:Abca8b
|
UTSW |
11 |
109,827,210 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5098:Abca8b
|
UTSW |
11 |
109,847,944 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5117:Abca8b
|
UTSW |
11 |
109,857,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Abca8b
|
UTSW |
11 |
109,867,420 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5302:Abca8b
|
UTSW |
11 |
109,868,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Abca8b
|
UTSW |
11 |
109,868,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5487:Abca8b
|
UTSW |
11 |
109,844,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5512:Abca8b
|
UTSW |
11 |
109,868,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5564:Abca8b
|
UTSW |
11 |
109,825,407 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5610:Abca8b
|
UTSW |
11 |
109,868,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Abca8b
|
UTSW |
11 |
109,831,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:Abca8b
|
UTSW |
11 |
109,844,445 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5827:Abca8b
|
UTSW |
11 |
109,868,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5829:Abca8b
|
UTSW |
11 |
109,868,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5848:Abca8b
|
UTSW |
11 |
109,868,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5849:Abca8b
|
UTSW |
11 |
109,868,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5850:Abca8b
|
UTSW |
11 |
109,868,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5854:Abca8b
|
UTSW |
11 |
109,868,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5982:Abca8b
|
UTSW |
11 |
109,844,423 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5994:Abca8b
|
UTSW |
11 |
109,840,592 (GRCm39) |
splice site |
probably null |
|
|
R6035:Abca8b
|
UTSW |
11 |
109,862,686 (GRCm39) |
splice site |
probably null |
|
|
R6035:Abca8b
|
UTSW |
11 |
109,862,686 (GRCm39) |
splice site |
probably null |
|
|
R6050:Abca8b
|
UTSW |
11 |
109,868,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6145:Abca8b
|
UTSW |
11 |
109,864,634 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6223:Abca8b
|
UTSW |
11 |
109,868,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6349:Abca8b
|
UTSW |
11 |
109,825,544 (GRCm39) |
splice site |
probably null |
|
|
R7002:Abca8b
|
UTSW |
11 |
109,832,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7050:Abca8b
|
UTSW |
11 |
109,864,544 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7107:Abca8b
|
UTSW |
11 |
109,867,299 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7158:Abca8b
|
UTSW |
11 |
109,825,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Abca8b
|
UTSW |
11 |
109,836,654 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7197:Abca8b
|
UTSW |
11 |
109,836,648 (GRCm39) |
nonsense |
probably null |
|
|
R7220:Abca8b
|
UTSW |
11 |
109,872,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Abca8b
|
UTSW |
11 |
109,829,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7590:Abca8b
|
UTSW |
11 |
109,829,341 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7658:Abca8b
|
UTSW |
11 |
109,826,543 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7739:Abca8b
|
UTSW |
11 |
109,865,417 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7797:Abca8b
|
UTSW |
11 |
109,862,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7934:Abca8b
|
UTSW |
11 |
109,865,865 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8074:Abca8b
|
UTSW |
11 |
109,829,320 (GRCm39) |
missense |
probably benign |
|
|
R8302:Abca8b
|
UTSW |
11 |
109,853,406 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8341:Abca8b
|
UTSW |
11 |
109,845,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Abca8b
|
UTSW |
11 |
109,857,937 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8748:Abca8b
|
UTSW |
11 |
109,836,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8924:Abca8b
|
UTSW |
11 |
109,838,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9002:Abca8b
|
UTSW |
11 |
109,843,456 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9032:Abca8b
|
UTSW |
11 |
109,848,073 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9099:Abca8b
|
UTSW |
11 |
109,871,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9124:Abca8b
|
UTSW |
11 |
109,828,593 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9178:Abca8b
|
UTSW |
11 |
109,840,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9188:Abca8b
|
UTSW |
11 |
109,872,561 (GRCm39) |
nonsense |
probably null |
|
|
R9277:Abca8b
|
UTSW |
11 |
109,867,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9340:Abca8b
|
UTSW |
11 |
109,840,939 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9371:Abca8b
|
UTSW |
11 |
109,858,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9382:Abca8b
|
UTSW |
11 |
109,870,711 (GRCm39) |
missense |
probably benign |
|
|
R9450:Abca8b
|
UTSW |
11 |
109,859,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9462:Abca8b
|
UTSW |
11 |
109,844,433 (GRCm39) |
missense |
|
|
|
R9712:Abca8b
|
UTSW |
11 |
109,833,163 (GRCm39) |
missense |
probably benign |
0.30 |
|
Z1088:Abca8b
|
UTSW |
11 |
109,867,308 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Abca8b
|
UTSW |
11 |
109,865,470 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1176:Abca8b
|
UTSW |
11 |
109,852,734 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCACAATATCCCATGGTGAC -3'
(R):5'- TGCAGAGGTTGACATCGTGG -3'
Sequencing Primer
(F):5'- GAGATATGCAAGGAAACTCTACATC -3'
(R):5'- TTGACATCGTGGGAGAAGGAC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation