Incidental Mutation 'R4700:Abca8a'
| ID |
355951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca8a
|
| Ensembl Gene |
ENSMUSG00000041828 |
| Gene Name |
ATP-binding cassette, sub-family A member 8a |
| Synonyms |
|
| MMRRC Submission |
041948-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4700 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
109916460-109986804 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 109961308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 538
(V538G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046223]
[ENSMUST00000100287]
[ENSMUST00000106664]
|
| AlphaFold |
Q8K442 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046223
AA Change: V537G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: V537G
| 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 |
probably damaging
Transcript: ENSMUST00000100287
AA Change: V538G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: V538G
| 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 |
probably damaging
Transcript: ENSMUST00000106664
AA Change: V538G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: V538G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129810
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000146635
AA Change: V154G
|
| SMART Domains |
Protein: ENSMUSP00000114393
Gene: ENSMUSG00000041828
AA Change: V154G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:ABC_tran
|
114 |
210 |
4.5e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.6898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
97% (127/131) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 112 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
A |
G |
13: 31,742,795 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,242,306 (GRCm39) |
T1390A |
possibly damaging |
Het |
| Abca14 |
T |
A |
7: 119,911,928 (GRCm39) |
|
probably null |
Het |
| Acy1 |
C |
T |
9: 106,310,782 (GRCm39) |
G329R |
probably benign |
Het |
| Adamts17 |
T |
C |
7: 66,691,636 (GRCm39) |
C607R |
probably damaging |
Het |
| Adamts20 |
A |
T |
15: 94,292,503 (GRCm39) |
C202* |
probably null |
Het |
| Adcy5 |
A |
G |
16: 35,099,586 (GRCm39) |
N712S |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,982,045 (GRCm39) |
K1110E |
probably benign |
Het |
| Anks6 |
T |
A |
4: 47,033,127 (GRCm39) |
H578L |
possibly damaging |
Het |
| Appl1 |
C |
A |
14: 26,647,928 (GRCm39) |
L626F |
probably benign |
Het |
| Arl1 |
A |
G |
10: 88,566,499 (GRCm39) |
|
probably benign |
Het |
| Atf4 |
T |
A |
15: 80,141,618 (GRCm39) |
I336K |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,490,137 (GRCm39) |
S1044T |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,498,480 (GRCm39) |
N466S |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,084,677 (GRCm39) |
S153P |
probably damaging |
Het |
| Ccdc159 |
A |
G |
9: 21,839,027 (GRCm39) |
|
probably null |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdc7 |
T |
C |
5: 107,121,707 (GRCm39) |
F207L |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,304,547 (GRCm39) |
R2271G |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,088,915 (GRCm39) |
Q989R |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,137,862 (GRCm39) |
T749A |
probably benign |
Het |
| Clcn5 |
T |
C |
X: 7,032,591 (GRCm39) |
|
probably null |
Het |
| Clu |
A |
T |
14: 66,217,313 (GRCm39) |
Y382F |
probably benign |
Het |
| Cnih4 |
A |
G |
1: 180,993,808 (GRCm39) |
|
probably benign |
Het |
| Crb1 |
A |
G |
1: 139,126,509 (GRCm39) |
L1340P |
probably damaging |
Het |
| Ddx4 |
T |
C |
13: 112,750,269 (GRCm39) |
T421A |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,520,405 (GRCm39) |
E484G |
probably benign |
Het |
| Dsg4 |
G |
T |
18: 20,589,965 (GRCm39) |
V372L |
possibly damaging |
Het |
| Dyrk2 |
T |
C |
10: 118,704,191 (GRCm39) |
D21G |
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 33,935,560 (GRCm39) |
|
probably null |
Het |
| F10 |
G |
T |
8: 13,089,621 (GRCm39) |
V67F |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,942,469 (GRCm39) |
I1301T |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,058 (GRCm39) |
T549A |
probably benign |
Het |
| Flt4 |
C |
A |
11: 49,517,271 (GRCm39) |
|
probably benign |
Het |
| Fndc1 |
G |
A |
17: 7,990,312 (GRCm39) |
T1128I |
unknown |
Het |
| Fos |
T |
C |
12: 85,522,936 (GRCm39) |
S283P |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,222,881 (GRCm39) |
Y1900C |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,817,373 (GRCm39) |
Q4369K |
probably benign |
Het |
| Gad2 |
A |
T |
2: 22,563,982 (GRCm39) |
H395L |
probably damaging |
Het |
| Grm2 |
T |
A |
9: 106,531,130 (GRCm39) |
I120F |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
T |
3: 59,227,751 (GRCm39) |
I1974N |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,450,834 (GRCm39) |
N215S |
probably damaging |
Het |
| Jph1 |
T |
A |
1: 17,161,928 (GRCm39) |
M245L |
possibly damaging |
Het |
| Loxl4 |
G |
A |
19: 42,596,052 (GRCm39) |
H147Y |
probably benign |
Het |
| Lsg1 |
A |
G |
16: 30,384,267 (GRCm39) |
I521T |
probably damaging |
Het |
| Ltc4s |
C |
T |
11: 50,127,908 (GRCm39) |
G83R |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,449,796 (GRCm39) |
E173G |
probably damaging |
Het |
| Med29 |
T |
A |
7: 28,086,352 (GRCm39) |
D152V |
possibly damaging |
Het |
| Megf8 |
A |
G |
7: 25,062,940 (GRCm39) |
D2432G |
probably damaging |
Het |
| Mrpl38 |
G |
A |
11: 116,025,978 (GRCm39) |
|
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,225,778 (GRCm39) |
I521T |
possibly damaging |
Het |
| Mylk |
G |
T |
16: 34,742,805 (GRCm39) |
V1106L |
probably benign |
Het |
| Myo15b |
A |
T |
11: 115,752,761 (GRCm39) |
D753V |
possibly damaging |
Het |
| Myo1g |
T |
C |
11: 6,466,785 (GRCm39) |
|
probably null |
Het |
| Myrfl |
A |
G |
10: 116,613,247 (GRCm39) |
|
probably null |
Het |
| Naip5 |
A |
G |
13: 100,359,922 (GRCm39) |
V438A |
possibly damaging |
Het |
| Nav3 |
A |
G |
10: 109,600,796 (GRCm39) |
V1277A |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,842,841 (GRCm38) |
V182E |
possibly damaging |
Het |
| Ngly1 |
T |
C |
14: 16,281,809 (GRCm38) |
V355A |
probably benign |
Het |
| Nol6 |
T |
C |
4: 41,118,944 (GRCm39) |
E683G |
possibly damaging |
Het |
| Obsl1 |
A |
T |
1: 75,480,085 (GRCm39) |
V487E |
probably damaging |
Het |
| Oc90 |
T |
A |
15: 65,753,354 (GRCm39) |
R322W |
possibly damaging |
Het |
| Or1q1 |
C |
A |
2: 36,887,515 (GRCm39) |
A231D |
probably benign |
Het |
| Or4f60 |
A |
G |
2: 111,902,097 (GRCm39) |
V277A |
possibly damaging |
Het |
| Or52e4 |
A |
T |
7: 104,705,483 (GRCm39) |
H10L |
possibly damaging |
Het |
| Or8b4 |
A |
G |
9: 37,830,217 (GRCm39) |
E93G |
possibly damaging |
Het |
| Osbp2 |
T |
C |
11: 3,662,160 (GRCm39) |
H231R |
probably damaging |
Het |
| Pate6 |
A |
T |
9: 35,701,021 (GRCm39) |
C22S |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,281,541 (GRCm39) |
H247R |
probably damaging |
Het |
| Pidd1 |
T |
C |
7: 141,022,162 (GRCm39) |
N209S |
probably damaging |
Het |
| Pknox1 |
C |
T |
17: 31,822,286 (GRCm39) |
A351V |
probably damaging |
Het |
| Plxnd1 |
C |
A |
6: 115,935,576 (GRCm39) |
V1737F |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,519,976 (GRCm39) |
K1138M |
probably damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,631,224 (GRCm39) |
D21G |
possibly damaging |
Het |
| Recql4 |
C |
T |
15: 76,592,785 (GRCm39) |
C302Y |
probably damaging |
Het |
| Scgb2b6 |
T |
C |
7: 31,318,908 (GRCm39) |
|
noncoding transcript |
Het |
| Sdc1 |
A |
G |
12: 8,840,541 (GRCm39) |
E106G |
possibly damaging |
Het |
| Slc10a5 |
T |
G |
3: 10,400,360 (GRCm39) |
Q100P |
probably damaging |
Het |
| Slc10a5 |
C |
A |
3: 10,400,359 (GRCm39) |
Q100H |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,748,134 (GRCm39) |
L226Q |
possibly damaging |
Het |
| Slfn1 |
T |
C |
11: 83,012,475 (GRCm39) |
V197A |
probably benign |
Het |
| Spire1 |
T |
C |
18: 67,645,935 (GRCm39) |
M244V |
probably benign |
Het |
| St3gal3 |
C |
T |
4: 117,817,232 (GRCm39) |
V141I |
probably benign |
Het |
| St6galnac4 |
G |
T |
2: 32,477,172 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,097,323 (GRCm39) |
K1407E |
possibly damaging |
Het |
| Tbc1d32 |
A |
G |
10: 56,100,745 (GRCm39) |
C78R |
probably damaging |
Het |
| Tcstv5 |
T |
C |
13: 120,411,378 (GRCm39) |
Y76C |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,253,809 (GRCm39) |
V754A |
probably benign |
Het |
| Tmeff1 |
A |
T |
4: 48,636,869 (GRCm39) |
Y189F |
possibly damaging |
Het |
| Tmem131l |
C |
T |
3: 83,806,519 (GRCm39) |
A1433T |
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 145,029,692 (GRCm39) |
Y36C |
probably damaging |
Het |
| Trp53i11 |
G |
T |
2: 93,030,245 (GRCm39) |
R184L |
probably damaging |
Het |
| Trpv1 |
A |
T |
11: 73,142,110 (GRCm39) |
M214L |
possibly damaging |
Het |
| Tsnax |
T |
A |
8: 125,755,533 (GRCm39) |
S132T |
probably benign |
Het |
| Ttc28 |
T |
C |
5: 111,424,909 (GRCm39) |
L1547P |
probably damaging |
Het |
| Ttc3 |
A |
G |
16: 94,240,100 (GRCm39) |
|
probably null |
Het |
| Tubal3 |
T |
A |
13: 3,983,514 (GRCm39) |
D431E |
probably damaging |
Het |
| Ugt2b36 |
A |
T |
5: 87,240,301 (GRCm39) |
|
probably null |
Het |
| Vmn1r23 |
A |
T |
6: 57,903,190 (GRCm39) |
I196K |
probably benign |
Het |
| Vmn1r55 |
A |
C |
7: 5,149,586 (GRCm39) |
L279R |
probably damaging |
Het |
| Vmn1r55 |
G |
T |
7: 5,149,587 (GRCm39) |
L279M |
probably damaging |
Het |
| Vmn2r89 |
G |
A |
14: 51,694,942 (GRCm39) |
G474E |
probably damaging |
Het |
| Vps26b |
T |
C |
9: 26,926,511 (GRCm39) |
K163E |
probably damaging |
Het |
| Zfp142 |
A |
G |
1: 74,609,431 (GRCm39) |
F1352L |
probably damaging |
Het |
| Zfp422 |
C |
T |
6: 116,603,844 (GRCm39) |
E52K |
possibly damaging |
Het |
| Zfp423 |
T |
A |
8: 88,508,338 (GRCm39) |
|
probably null |
Het |
| Zfp493 |
T |
C |
13: 67,934,736 (GRCm39) |
F230L |
probably damaging |
Het |
| Zfp760 |
T |
C |
17: 21,941,388 (GRCm39) |
C188R |
probably benign |
Het |
| Zfyve28 |
G |
T |
5: 34,375,189 (GRCm39) |
T275K |
probably damaging |
Het |
| Znhit3 |
T |
C |
11: 84,807,155 (GRCm39) |
N5D |
probably benign |
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 |
|
R0836:Abca8a
|
UTSW |
11 |
109,931,390 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
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'- GTGTCGATGAGTTAATGCAACC -3'
(R):5'- AGTTGCATGTGAGGTCAAGG -3'
Sequencing Primer
(F):5'- GTCGATGAGTTAATGCAACCAAAATC -3'
(R):5'- CTCCGGAGTAAGATAAAATCAC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation