Incidental Mutation 'R0836:Abca8a'
ID |
77939 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abca8a
|
Ensembl Gene |
ENSMUSG00000041828 |
Gene Name |
ATP-binding cassette, sub-family A member 8a |
Synonyms |
|
MMRRC Submission |
039015-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R0836 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
109916460-109986804 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 109931390 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1253
(D1253E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046223]
[ENSMUST00000100287]
[ENSMUST00000106664]
|
AlphaFold |
Q8K442 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046223
AA Change: D1253E
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000045808 Gene: ENSMUSG00000041828 AA Change: D1253E
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
27 |
416 |
8e-26 |
PFAM |
AAA
|
505 |
689 |
6.27e-9 |
SMART |
Pfam:ABC2_membrane_3
|
860 |
1174 |
6.8e-15 |
PFAM |
transmembrane domain
|
1196 |
1218 |
N/A |
INTRINSIC |
low complexity region
|
1246 |
1255 |
N/A |
INTRINSIC |
low complexity region
|
1288 |
1301 |
N/A |
INTRINSIC |
AAA
|
1313 |
1493 |
4.3e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100287
AA Change: D1254E
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000097860 Gene: ENSMUSG00000041828 AA Change: D1254E
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
27 |
416 |
3.9e-26 |
PFAM |
AAA
|
506 |
690 |
6.27e-9 |
SMART |
Pfam:ABC2_membrane_3
|
861 |
1175 |
3.3e-15 |
PFAM |
transmembrane domain
|
1197 |
1219 |
N/A |
INTRINSIC |
low complexity region
|
1247 |
1256 |
N/A |
INTRINSIC |
low complexity region
|
1289 |
1302 |
N/A |
INTRINSIC |
AAA
|
1314 |
1494 |
4.3e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106664
AA Change: D1254E
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102275 Gene: ENSMUSG00000041828 AA Change: D1254E
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
28 |
416 |
1.7e-23 |
PFAM |
AAA
|
506 |
690 |
6.27e-9 |
SMART |
Pfam:ABC2_membrane_3
|
861 |
1214 |
1.3e-12 |
PFAM |
low complexity region
|
1247 |
1256 |
N/A |
INTRINSIC |
low complexity region
|
1289 |
1302 |
N/A |
INTRINSIC |
AAA
|
1314 |
1494 |
4.3e-7 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.2%
|
Validation Efficiency |
100% (102/102) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 99 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110082I17Rik |
A |
G |
5: 139,349,875 (GRCm39) |
V58A |
possibly damaging |
Het |
4932415M13Rik |
A |
T |
17: 54,031,374 (GRCm39) |
|
noncoding transcript |
Het |
A930003A15Rik |
T |
C |
16: 19,702,622 (GRCm39) |
|
noncoding transcript |
Het |
Acsm3 |
T |
C |
7: 119,376,323 (GRCm39) |
I350T |
possibly damaging |
Het |
Adcy9 |
T |
C |
16: 4,237,135 (GRCm39) |
D92G |
possibly damaging |
Het |
Aldh9a1 |
G |
A |
1: 167,177,824 (GRCm39) |
G7D |
probably benign |
Het |
Alg14 |
A |
G |
3: 121,092,259 (GRCm39) |
H34R |
probably damaging |
Het |
Ankrd27 |
A |
G |
7: 35,307,772 (GRCm39) |
N337S |
probably damaging |
Het |
Apoa2 |
T |
A |
1: 171,052,948 (GRCm39) |
|
probably benign |
Het |
Asphd2 |
A |
T |
5: 112,539,635 (GRCm39) |
L66H |
probably damaging |
Het |
Astl |
T |
C |
2: 127,184,339 (GRCm39) |
F21L |
probably benign |
Het |
Bptf |
C |
A |
11: 107,001,638 (GRCm39) |
|
probably null |
Het |
Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,328,775 (GRCm39) |
|
probably benign |
Het |
Camk4 |
G |
T |
18: 33,072,507 (GRCm39) |
S20I |
unknown |
Het |
Ccdc85a |
T |
A |
11: 28,533,296 (GRCm39) |
I83F |
probably damaging |
Het |
Ccnt2 |
T |
A |
1: 127,730,131 (GRCm39) |
M336K |
probably benign |
Het |
Cd209e |
G |
T |
8: 3,903,205 (GRCm39) |
D62E |
probably benign |
Het |
Ceacam23 |
C |
A |
7: 17,638,906 (GRCm39) |
A301E |
possibly damaging |
Het |
Ces1f |
A |
T |
8: 93,996,652 (GRCm39) |
S214T |
probably damaging |
Het |
Cfap43 |
C |
A |
19: 47,804,285 (GRCm39) |
V304L |
probably benign |
Het |
Col26a1 |
A |
G |
5: 136,794,154 (GRCm39) |
|
probably null |
Het |
Cpa5 |
T |
C |
6: 30,623,210 (GRCm39) |
S124P |
probably damaging |
Het |
Crtc1 |
A |
G |
8: 70,845,663 (GRCm39) |
V306A |
probably benign |
Het |
D130043K22Rik |
G |
A |
13: 25,047,563 (GRCm39) |
|
probably benign |
Het |
D17H6S53E |
A |
T |
17: 35,346,385 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
T |
C |
18: 49,966,215 (GRCm39) |
V20A |
probably damaging |
Het |
Dnah11 |
G |
A |
12: 118,160,397 (GRCm39) |
A111V |
probably benign |
Het |
Dyrk2 |
T |
C |
10: 118,697,027 (GRCm39) |
H77R |
probably benign |
Het |
Epha3 |
A |
G |
16: 63,423,882 (GRCm39) |
|
probably benign |
Het |
Epn2 |
T |
C |
11: 61,410,317 (GRCm39) |
N611S |
probably benign |
Het |
Erich6 |
A |
C |
3: 58,526,365 (GRCm39) |
|
probably benign |
Het |
Fam217b |
T |
C |
2: 178,062,782 (GRCm39) |
S249P |
probably benign |
Het |
Fezf1 |
T |
C |
6: 23,246,998 (GRCm39) |
H278R |
probably benign |
Het |
Fhod3 |
T |
A |
18: 25,199,275 (GRCm39) |
Y649N |
probably damaging |
Het |
Ftdc2 |
G |
A |
16: 58,455,886 (GRCm39) |
S129L |
probably damaging |
Het |
Grap |
T |
A |
11: 61,551,065 (GRCm39) |
D32E |
possibly damaging |
Het |
Hipk1 |
A |
G |
3: 103,661,612 (GRCm39) |
S670P |
probably damaging |
Het |
Iho1 |
A |
T |
9: 108,282,000 (GRCm39) |
C563S |
probably benign |
Het |
Ilrun |
A |
T |
17: 28,005,112 (GRCm39) |
S148R |
probably damaging |
Het |
Itga2 |
A |
G |
13: 114,993,215 (GRCm39) |
V800A |
probably damaging |
Het |
Itgae |
A |
T |
11: 73,020,032 (GRCm39) |
M845L |
probably benign |
Het |
Itgb5 |
A |
G |
16: 33,720,953 (GRCm39) |
K339R |
probably damaging |
Het |
Itpka |
T |
A |
2: 119,581,312 (GRCm39) |
N448K |
probably damaging |
Het |
Jak3 |
A |
C |
8: 72,136,622 (GRCm39) |
N643T |
probably damaging |
Het |
Kcnd2 |
T |
A |
6: 21,727,328 (GRCm39) |
V627E |
probably damaging |
Het |
Kcnd2 |
T |
C |
6: 21,726,238 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
A |
G |
14: 47,938,519 (GRCm39) |
|
probably null |
Het |
Lamp1 |
T |
A |
8: 13,222,654 (GRCm39) |
F279L |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,388,675 (GRCm39) |
|
probably null |
Het |
Mark2 |
A |
G |
19: 7,263,189 (GRCm39) |
Y193H |
probably damaging |
Het |
Mcrs1 |
T |
C |
15: 99,141,330 (GRCm39) |
|
probably benign |
Het |
Mtnr1a |
A |
T |
8: 45,540,974 (GRCm39) |
I312F |
probably benign |
Het |
Myom2 |
A |
T |
8: 15,182,924 (GRCm39) |
K1454* |
probably null |
Het |
Nfkbia |
C |
A |
12: 55,537,561 (GRCm39) |
A211S |
probably damaging |
Het |
Or52ae9 |
T |
C |
7: 103,390,132 (GRCm39) |
H105R |
probably damaging |
Het |
Or56b1b |
T |
C |
7: 108,164,205 (GRCm39) |
T266A |
possibly damaging |
Het |
Or8b1c |
A |
T |
9: 38,384,081 (GRCm39) |
I13F |
probably benign |
Het |
Otog |
C |
T |
7: 45,918,786 (GRCm39) |
T954I |
possibly damaging |
Het |
Phlpp2 |
A |
G |
8: 110,663,738 (GRCm39) |
T926A |
probably damaging |
Het |
Plec |
GGCAGCAG |
GGCAGCAGCAG |
15: 76,066,107 (GRCm39) |
|
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,535,360 (GRCm39) |
|
probably benign |
Het |
Pmch |
A |
G |
10: 87,927,086 (GRCm39) |
I30V |
probably benign |
Het |
Ppat |
A |
C |
5: 77,070,348 (GRCm39) |
Y157D |
probably benign |
Het |
Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
Rab27b |
T |
C |
18: 70,120,112 (GRCm39) |
|
probably benign |
Het |
Rapsn |
T |
C |
2: 90,867,153 (GRCm39) |
Y152H |
probably damaging |
Het |
Rasd1 |
A |
T |
11: 59,855,379 (GRCm39) |
F85I |
probably damaging |
Het |
Rbp3 |
T |
G |
14: 33,678,595 (GRCm39) |
S848A |
possibly damaging |
Het |
Rgs1 |
A |
T |
1: 144,123,671 (GRCm39) |
S85T |
probably damaging |
Het |
Rictor |
A |
G |
15: 6,793,759 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
C |
1: 22,497,709 (GRCm39) |
|
probably null |
Het |
Shc1 |
A |
G |
3: 89,330,276 (GRCm39) |
D70G |
probably damaging |
Het |
Slc22a28 |
T |
C |
19: 8,094,197 (GRCm39) |
Y245C |
possibly damaging |
Het |
Slc25a1 |
T |
A |
16: 17,745,300 (GRCm39) |
H78L |
probably benign |
Het |
Slc30a7 |
T |
A |
3: 115,783,789 (GRCm39) |
|
probably null |
Het |
Slc34a2 |
A |
G |
5: 53,225,049 (GRCm39) |
T397A |
probably benign |
Het |
Slc51a |
T |
A |
16: 32,294,667 (GRCm39) |
T306S |
probably benign |
Het |
Sorcs3 |
G |
A |
19: 48,475,833 (GRCm39) |
V231I |
probably benign |
Het |
Sp100 |
A |
T |
1: 85,627,465 (GRCm39) |
I86L |
probably damaging |
Het |
Spata31e5 |
A |
G |
1: 28,816,902 (GRCm39) |
S377P |
possibly damaging |
Het |
Stard9 |
T |
G |
2: 120,527,480 (GRCm39) |
S1246A |
possibly damaging |
Het |
Stxbp5 |
A |
T |
10: 9,740,843 (GRCm39) |
S116R |
probably damaging |
Het |
Tas2r105 |
T |
C |
6: 131,664,393 (GRCm39) |
I12V |
probably benign |
Het |
Tas2r121 |
A |
G |
6: 132,677,325 (GRCm39) |
S216P |
probably damaging |
Het |
Tax1bp1 |
C |
T |
6: 52,718,925 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,978,904 (GRCm39) |
D48G |
probably damaging |
Het |
Tex24 |
A |
T |
8: 27,834,748 (GRCm39) |
H92L |
possibly damaging |
Het |
Tgm3 |
C |
T |
2: 129,868,602 (GRCm39) |
|
probably benign |
Het |
Thbs4 |
T |
G |
13: 92,894,546 (GRCm39) |
D659A |
probably damaging |
Het |
Tmed11 |
A |
T |
5: 108,943,175 (GRCm39) |
M1K |
probably null |
Het |
Tmpo |
A |
T |
10: 90,997,815 (GRCm39) |
C657* |
probably null |
Het |
Unc5a |
C |
A |
13: 55,151,746 (GRCm39) |
N56K |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,592,336 (GRCm39) |
D308G |
possibly damaging |
Het |
Vav3 |
A |
G |
3: 109,554,995 (GRCm39) |
N81S |
possibly damaging |
Het |
Vmn2r108 |
A |
T |
17: 20,691,721 (GRCm39) |
D267E |
probably benign |
Het |
Vmn2r17 |
A |
T |
5: 109,575,822 (GRCm39) |
H231L |
possibly damaging |
Het |
Wrn |
A |
G |
8: 33,785,034 (GRCm39) |
I446T |
possibly damaging |
Het |
Zfp266 |
G |
A |
9: 20,411,095 (GRCm39) |
H361Y |
probably damaging |
Het |
|
Other mutations in Abca8a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Abca8a
|
APN |
11 |
109,941,765 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL01099:Abca8a
|
APN |
11 |
109,965,031 (GRCm39) |
splice site |
probably benign |
|
IGL01100:Abca8a
|
APN |
11 |
109,949,249 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01310:Abca8a
|
APN |
11 |
109,950,801 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01357:Abca8a
|
APN |
11 |
109,922,398 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01554:Abca8a
|
APN |
11 |
109,932,992 (GRCm39) |
missense |
probably benign |
0.24 |
IGL01937:Abca8a
|
APN |
11 |
109,974,130 (GRCm39) |
splice site |
probably benign |
|
IGL01945:Abca8a
|
APN |
11 |
109,974,130 (GRCm39) |
splice site |
probably benign |
|
IGL01987:Abca8a
|
APN |
11 |
109,964,981 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02023:Abca8a
|
APN |
11 |
109,953,942 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02208:Abca8a
|
APN |
11 |
109,950,772 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02378:Abca8a
|
APN |
11 |
109,969,641 (GRCm39) |
unclassified |
probably benign |
|
IGL02380:Abca8a
|
APN |
11 |
109,969,641 (GRCm39) |
unclassified |
probably benign |
|
IGL02387:Abca8a
|
APN |
11 |
109,969,641 (GRCm39) |
unclassified |
probably benign |
|
IGL02388:Abca8a
|
APN |
11 |
109,969,641 (GRCm39) |
unclassified |
probably benign |
|
IGL02524:Abca8a
|
APN |
11 |
109,969,641 (GRCm39) |
unclassified |
probably benign |
|
IGL02551:Abca8a
|
APN |
11 |
109,975,068 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02831:Abca8a
|
APN |
11 |
109,943,907 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02836:Abca8a
|
APN |
11 |
109,961,177 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02934:Abca8a
|
APN |
11 |
109,931,414 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02946:Abca8a
|
APN |
11 |
109,919,041 (GRCm39) |
splice site |
probably benign |
|
IGL02967:Abca8a
|
APN |
11 |
109,941,762 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02997:Abca8a
|
APN |
11 |
109,966,359 (GRCm39) |
splice site |
probably benign |
|
IGL03265:Abca8a
|
APN |
11 |
109,943,929 (GRCm39) |
missense |
probably benign |
0.01 |
G5030:Abca8a
|
UTSW |
11 |
109,961,165 (GRCm39) |
missense |
probably damaging |
1.00 |
H8562:Abca8a
|
UTSW |
11 |
109,933,835 (GRCm39) |
missense |
probably benign |
|
PIT4445001:Abca8a
|
UTSW |
11 |
109,966,377 (GRCm39) |
missense |
probably damaging |
0.99 |
R0060:Abca8a
|
UTSW |
11 |
109,961,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R0060:Abca8a
|
UTSW |
11 |
109,961,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R0084:Abca8a
|
UTSW |
11 |
109,927,423 (GRCm39) |
splice site |
probably benign |
|
R0394:Abca8a
|
UTSW |
11 |
109,917,169 (GRCm39) |
missense |
probably damaging |
0.99 |
R0477:Abca8a
|
UTSW |
11 |
109,956,051 (GRCm39) |
missense |
probably benign |
|
R0593:Abca8a
|
UTSW |
11 |
109,958,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R0744:Abca8a
|
UTSW |
11 |
109,931,390 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0764:Abca8a
|
UTSW |
11 |
109,950,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R0787:Abca8a
|
UTSW |
11 |
109,933,814 (GRCm39) |
missense |
possibly damaging |
0.60 |
R0848:Abca8a
|
UTSW |
11 |
109,919,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R0894:Abca8a
|
UTSW |
11 |
109,941,792 (GRCm39) |
missense |
probably benign |
0.00 |
R1163:Abca8a
|
UTSW |
11 |
109,962,356 (GRCm39) |
missense |
probably benign |
0.01 |
R1224:Abca8a
|
UTSW |
11 |
109,931,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R1474:Abca8a
|
UTSW |
11 |
109,960,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R1596:Abca8a
|
UTSW |
11 |
109,958,886 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1708:Abca8a
|
UTSW |
11 |
109,943,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R1715:Abca8a
|
UTSW |
11 |
109,982,406 (GRCm39) |
missense |
probably damaging |
0.98 |
R1795:Abca8a
|
UTSW |
11 |
109,941,792 (GRCm39) |
missense |
probably benign |
0.00 |
R1832:Abca8a
|
UTSW |
11 |
109,962,277 (GRCm39) |
missense |
probably damaging |
0.99 |
R1852:Abca8a
|
UTSW |
11 |
109,960,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R1887:Abca8a
|
UTSW |
11 |
109,980,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R1891:Abca8a
|
UTSW |
11 |
109,982,433 (GRCm39) |
missense |
probably benign |
0.20 |
R1917:Abca8a
|
UTSW |
11 |
109,982,341 (GRCm39) |
splice site |
probably benign |
|
R1943:Abca8a
|
UTSW |
11 |
109,960,689 (GRCm39) |
missense |
probably benign |
0.00 |
R1962:Abca8a
|
UTSW |
11 |
109,917,731 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2016:Abca8a
|
UTSW |
11 |
109,961,213 (GRCm39) |
missense |
probably damaging |
0.99 |
R2037:Abca8a
|
UTSW |
11 |
109,980,810 (GRCm39) |
splice site |
probably null |
|
R2098:Abca8a
|
UTSW |
11 |
109,927,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Abca8a
|
UTSW |
11 |
109,958,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R2134:Abca8a
|
UTSW |
11 |
109,921,743 (GRCm39) |
missense |
probably null |
1.00 |
R2220:Abca8a
|
UTSW |
11 |
109,917,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R2269:Abca8a
|
UTSW |
11 |
109,917,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R2395:Abca8a
|
UTSW |
11 |
109,959,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R2847:Abca8a
|
UTSW |
11 |
109,932,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R2849:Abca8a
|
UTSW |
11 |
109,932,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R3508:Abca8a
|
UTSW |
11 |
109,953,991 (GRCm39) |
missense |
probably benign |
|
R3974:Abca8a
|
UTSW |
11 |
109,974,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R4009:Abca8a
|
UTSW |
11 |
109,980,933 (GRCm39) |
missense |
probably damaging |
0.98 |
R4163:Abca8a
|
UTSW |
11 |
109,941,808 (GRCm39) |
missense |
probably benign |
0.00 |
R4274:Abca8a
|
UTSW |
11 |
109,980,930 (GRCm39) |
missense |
probably damaging |
0.96 |
R4507:Abca8a
|
UTSW |
11 |
109,953,851 (GRCm39) |
missense |
probably benign |
0.19 |
R4571:Abca8a
|
UTSW |
11 |
109,920,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R4672:Abca8a
|
UTSW |
11 |
109,962,702 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4700:Abca8a
|
UTSW |
11 |
109,961,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R4770:Abca8a
|
UTSW |
11 |
109,962,341 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4946:Abca8a
|
UTSW |
11 |
109,977,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R4955:Abca8a
|
UTSW |
11 |
109,927,338 (GRCm39) |
missense |
probably benign |
0.00 |
R5186:Abca8a
|
UTSW |
11 |
109,982,425 (GRCm39) |
missense |
probably null |
0.31 |
R5190:Abca8a
|
UTSW |
11 |
109,980,735 (GRCm39) |
critical splice donor site |
probably null |
|
R5597:Abca8a
|
UTSW |
11 |
109,927,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Abca8a
|
UTSW |
11 |
109,929,225 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5757:Abca8a
|
UTSW |
11 |
109,933,794 (GRCm39) |
missense |
probably benign |
0.28 |
R5822:Abca8a
|
UTSW |
11 |
109,921,705 (GRCm39) |
missense |
probably damaging |
0.98 |
R5925:Abca8a
|
UTSW |
11 |
109,948,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R6090:Abca8a
|
UTSW |
11 |
109,954,048 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6122:Abca8a
|
UTSW |
11 |
109,961,249 (GRCm39) |
missense |
probably benign |
0.40 |
R6189:Abca8a
|
UTSW |
11 |
109,921,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R6200:Abca8a
|
UTSW |
11 |
109,980,876 (GRCm39) |
missense |
probably damaging |
0.98 |
R6374:Abca8a
|
UTSW |
11 |
109,974,216 (GRCm39) |
nonsense |
probably null |
|
R7022:Abca8a
|
UTSW |
11 |
109,974,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R7161:Abca8a
|
UTSW |
11 |
109,964,968 (GRCm39) |
missense |
probably benign |
0.09 |
R7198:Abca8a
|
UTSW |
11 |
109,969,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R7220:Abca8a
|
UTSW |
11 |
109,980,793 (GRCm39) |
missense |
probably benign |
0.00 |
R7290:Abca8a
|
UTSW |
11 |
109,921,714 (GRCm39) |
missense |
probably benign |
0.03 |
R7381:Abca8a
|
UTSW |
11 |
109,920,913 (GRCm39) |
splice site |
probably null |
|
R7437:Abca8a
|
UTSW |
11 |
109,941,790 (GRCm39) |
missense |
probably benign |
|
R7733:Abca8a
|
UTSW |
11 |
109,945,413 (GRCm39) |
missense |
probably benign |
0.02 |
R7785:Abca8a
|
UTSW |
11 |
109,965,032 (GRCm39) |
splice site |
probably null |
|
R7917:Abca8a
|
UTSW |
11 |
109,958,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R7948:Abca8a
|
UTSW |
11 |
109,941,805 (GRCm39) |
missense |
probably benign |
|
R7957:Abca8a
|
UTSW |
11 |
109,982,439 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R7958:Abca8a
|
UTSW |
11 |
109,922,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R7981:Abca8a
|
UTSW |
11 |
109,980,739 (GRCm39) |
missense |
probably benign |
0.00 |
R8033:Abca8a
|
UTSW |
11 |
109,927,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Abca8a
|
UTSW |
11 |
109,980,876 (GRCm39) |
missense |
probably damaging |
0.98 |
R8116:Abca8a
|
UTSW |
11 |
109,982,420 (GRCm39) |
missense |
probably benign |
0.27 |
R8289:Abca8a
|
UTSW |
11 |
109,927,515 (GRCm39) |
intron |
probably benign |
|
R8334:Abca8a
|
UTSW |
11 |
109,959,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R8371:Abca8a
|
UTSW |
11 |
109,945,473 (GRCm39) |
missense |
probably benign |
0.31 |
R8406:Abca8a
|
UTSW |
11 |
109,977,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R8438:Abca8a
|
UTSW |
11 |
109,966,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R8670:Abca8a
|
UTSW |
11 |
109,966,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R8807:Abca8a
|
UTSW |
11 |
109,974,252 (GRCm39) |
missense |
probably benign |
0.35 |
R8821:Abca8a
|
UTSW |
11 |
109,949,362 (GRCm39) |
missense |
probably damaging |
0.98 |
R8838:Abca8a
|
UTSW |
11 |
109,920,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R8884:Abca8a
|
UTSW |
11 |
109,964,941 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8885:Abca8a
|
UTSW |
11 |
109,960,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R8962:Abca8a
|
UTSW |
11 |
109,969,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R8966:Abca8a
|
UTSW |
11 |
109,962,245 (GRCm39) |
critical splice donor site |
probably null |
|
R9272:Abca8a
|
UTSW |
11 |
109,953,908 (GRCm39) |
missense |
probably damaging |
0.99 |
R9331:Abca8a
|
UTSW |
11 |
109,917,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R9397:Abca8a
|
UTSW |
11 |
109,921,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R9498:Abca8a
|
UTSW |
11 |
109,977,374 (GRCm39) |
missense |
probably damaging |
0.99 |
R9529:Abca8a
|
UTSW |
11 |
109,947,167 (GRCm39) |
nonsense |
probably null |
|
R9564:Abca8a
|
UTSW |
11 |
109,965,010 (GRCm39) |
missense |
probably benign |
0.04 |
X0022:Abca8a
|
UTSW |
11 |
109,921,923 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Abca8a
|
UTSW |
11 |
109,974,161 (GRCm39) |
missense |
probably damaging |
1.00 |
X0053:Abca8a
|
UTSW |
11 |
109,974,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTTCAAGCAAGACCGAGTGCG -3'
(R):5'- GCCACGAAGCAATGACTGCTTTAC -3'
Sequencing Primer
(F):5'- CCATATTCTCAGGAAAGATGCTCG -3'
(R):5'- CAATGACTGCTTTACTTGGTGAC -3'
|
Posted On |
2013-10-16 |