Incidental Mutation 'R1962:Abca8a'
| ID |
217018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca8a
|
| Ensembl Gene |
ENSMUSG00000041828 |
| Gene Name |
ATP-binding cassette, sub-family A member 8a |
| Synonyms |
|
| MMRRC Submission |
039976-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1962 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
109916460-109986804 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 109917731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046223]
[ENSMUST00000046223]
[ENSMUST00000100287]
[ENSMUST00000100287]
[ENSMUST00000106664]
[ENSMUST00000106664]
|
| AlphaFold |
Q8K442 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046223
|
| SMART Domains |
Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
| 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 null
Transcript: ENSMUST00000046223
|
| SMART Domains |
Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
| 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 null
Transcript: ENSMUST00000100287
|
| SMART Domains |
Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
| 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 null
Transcript: ENSMUST00000100287
|
| SMART Domains |
Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
| 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 null
Transcript: ENSMUST00000106664
|
| SMART Domains |
Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
| 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 |
probably null
Transcript: ENSMUST00000106664
|
| SMART Domains |
Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
| 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: ENSMUST00000141279
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,940,468 (GRCm39) |
I354M |
probably damaging |
Het |
| Abca8b |
T |
C |
11: 109,870,724 (GRCm39) |
R143G |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,594,047 (GRCm39) |
D840G |
probably damaging |
Het |
| Agpat5 |
T |
C |
8: 18,928,026 (GRCm39) |
L197P |
probably damaging |
Het |
| Akr1d1 |
T |
C |
6: 37,512,983 (GRCm39) |
V93A |
probably benign |
Het |
| Arap2 |
T |
C |
5: 62,834,007 (GRCm39) |
K820R |
possibly damaging |
Het |
| Armc9 |
T |
A |
1: 86,135,696 (GRCm39) |
C551S |
probably damaging |
Het |
| Atg7 |
T |
C |
6: 114,683,191 (GRCm39) |
L418P |
probably damaging |
Het |
| Awat2 |
G |
A |
X: 99,448,165 (GRCm39) |
P148S |
probably damaging |
Het |
| Brms1 |
C |
T |
19: 5,096,027 (GRCm39) |
R34W |
probably damaging |
Het |
| Cbx2 |
A |
G |
11: 118,919,395 (GRCm39) |
Q320R |
possibly damaging |
Het |
| Ccdc106 |
G |
A |
7: 5,062,539 (GRCm39) |
D11N |
possibly damaging |
Het |
| Ccdc30 |
C |
T |
4: 119,196,988 (GRCm39) |
R426Q |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,356,885 (GRCm39) |
V47E |
probably damaging |
Het |
| Cep170b |
C |
T |
12: 112,704,495 (GRCm39) |
S751L |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,246,957 (GRCm39) |
L328Q |
probably damaging |
Het |
| Crtc3 |
A |
G |
7: 80,239,679 (GRCm39) |
F558L |
probably damaging |
Het |
| Cyp2d34 |
A |
G |
15: 82,502,809 (GRCm39) |
V139A |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,413,408 (GRCm39) |
Y1136H |
probably damaging |
Het |
| Dhrs4 |
T |
C |
14: 55,725,060 (GRCm39) |
V185A |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,281,263 (GRCm39) |
K2775E |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,230,097 (GRCm39) |
S2238R |
possibly damaging |
Het |
| Duox2 |
T |
C |
2: 122,127,853 (GRCm39) |
|
probably null |
Het |
| Dusp16 |
G |
T |
6: 134,695,099 (GRCm39) |
Y577* |
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,842,570 (GRCm39) |
F176S |
probably damaging |
Het |
| Esco2 |
C |
A |
14: 66,068,982 (GRCm39) |
R109S |
probably damaging |
Het |
| Galnt7 |
C |
T |
8: 57,985,748 (GRCm39) |
E541K |
probably benign |
Het |
| Gbf1 |
C |
T |
19: 46,255,658 (GRCm39) |
T707I |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,672 (GRCm39) |
C427R |
probably damaging |
Het |
| Glyctk |
T |
C |
9: 106,035,064 (GRCm39) |
M1V |
probably null |
Het |
| Gm5478 |
T |
C |
15: 101,552,830 (GRCm39) |
E367G |
probably damaging |
Het |
| Golga7b |
G |
A |
19: 42,251,768 (GRCm39) |
V5I |
probably benign |
Het |
| Gpt2 |
T |
C |
8: 86,219,764 (GRCm39) |
L70P |
probably damaging |
Het |
| Gsdmc3 |
C |
A |
15: 63,730,315 (GRCm39) |
Q416H |
probably damaging |
Het |
| Hoxb5 |
A |
G |
11: 96,194,918 (GRCm39) |
E160G |
probably benign |
Het |
| Ift81 |
A |
T |
5: 122,698,772 (GRCm39) |
Y532N |
probably benign |
Het |
| Igf1 |
G |
A |
10: 87,700,726 (GRCm39) |
C66Y |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,857,023 (GRCm39) |
V995A |
probably damaging |
Het |
| Ip6k1 |
T |
C |
9: 107,918,287 (GRCm39) |
|
probably null |
Het |
| Jaml |
T |
C |
9: 45,015,495 (GRCm39) |
I333T |
possibly damaging |
Het |
| Kdm4c |
T |
C |
4: 74,225,253 (GRCm39) |
|
probably benign |
Het |
| Kdm6b |
T |
C |
11: 69,292,191 (GRCm39) |
|
probably benign |
Het |
| Krt6a |
C |
T |
15: 101,599,900 (GRCm39) |
R404H |
probably damaging |
Het |
| Larp4b |
C |
A |
13: 9,186,878 (GRCm39) |
H69N |
probably benign |
Het |
| Lcat |
A |
T |
8: 106,668,355 (GRCm39) |
W222R |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,746,086 (GRCm39) |
C54S |
probably benign |
Het |
| Mcpt9 |
T |
A |
14: 56,265,024 (GRCm39) |
H159L |
probably benign |
Het |
| Megf8 |
T |
C |
7: 25,062,976 (GRCm39) |
V2444A |
probably damaging |
Het |
| Memo1 |
T |
C |
17: 74,552,003 (GRCm39) |
T98A |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 112,012,051 (GRCm39) |
I634L |
probably benign |
Het |
| Mov10 |
C |
T |
3: 104,704,293 (GRCm39) |
R835Q |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,384,688 (GRCm39) |
L546Q |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,168,117 (GRCm39) |
V427A |
probably damaging |
Het |
| Myom2 |
T |
A |
8: 15,182,599 (GRCm39) |
|
probably null |
Het |
| Mzt2 |
G |
A |
16: 15,666,543 (GRCm39) |
R125C |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,162,949 (GRCm39) |
R2031* |
probably null |
Het |
| Nphp3 |
T |
C |
9: 103,898,537 (GRCm39) |
S447P |
probably benign |
Het |
| Nrp2 |
T |
A |
1: 62,758,090 (GRCm39) |
D25E |
probably benign |
Het |
| Nts |
A |
G |
10: 102,320,918 (GRCm39) |
L57S |
probably damaging |
Het |
| Nudt9 |
G |
A |
5: 104,212,971 (GRCm39) |
R348H |
probably benign |
Het |
| Or10d5j |
T |
C |
9: 39,867,979 (GRCm39) |
Y84C |
probably benign |
Het |
| Or13a1 |
C |
T |
6: 116,470,725 (GRCm39) |
P52S |
probably benign |
Het |
| Or3a1b |
C |
A |
11: 74,012,650 (GRCm39) |
D178E |
probably benign |
Het |
| Or4k49 |
T |
C |
2: 111,495,234 (GRCm39) |
I221T |
probably damaging |
Het |
| Or5ac16 |
T |
A |
16: 59,022,271 (GRCm39) |
I173F |
possibly damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,590,177 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
C |
A |
18: 63,211,911 (GRCm39) |
M1291I |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,498,016 (GRCm39) |
F486S |
probably benign |
Het |
| Podnl1 |
C |
T |
8: 84,853,926 (GRCm39) |
H99Y |
probably benign |
Het |
| Prdm6 |
A |
T |
18: 53,701,233 (GRCm39) |
Y341F |
probably damaging |
Het |
| Prr5l |
C |
T |
2: 101,588,854 (GRCm39) |
|
probably null |
Het |
| Psmd4 |
G |
T |
3: 94,944,012 (GRCm39) |
T24N |
possibly damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,667 (GRCm39) |
T242M |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
T |
C |
12: 51,469,769 (GRCm39) |
V438A |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,655 (GRCm39) |
C1677R |
probably damaging |
Het |
| Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
| Shank1 |
T |
A |
7: 43,993,747 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
G |
T |
19: 26,650,124 (GRCm39) |
E24* |
probably null |
Het |
| Sncaip |
C |
T |
18: 53,004,434 (GRCm39) |
H354Y |
probably damaging |
Het |
| St8sia2 |
T |
A |
7: 73,593,057 (GRCm39) |
D333V |
probably damaging |
Het |
| Stxbp2 |
C |
A |
8: 3,692,672 (GRCm39) |
R575S |
probably benign |
Het |
| Syt9 |
T |
A |
7: 107,024,314 (GRCm39) |
V69D |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,689,558 (GRCm39) |
N240S |
probably benign |
Het |
| Tcl1b1 |
T |
C |
12: 105,130,727 (GRCm39) |
L70S |
probably benign |
Het |
| Tmem44 |
C |
T |
16: 30,362,219 (GRCm39) |
|
probably null |
Het |
| Tor1b |
A |
G |
2: 30,846,931 (GRCm39) |
R293G |
probably benign |
Het |
| Trim29 |
T |
C |
9: 43,222,615 (GRCm39) |
V148A |
probably benign |
Het |
| Trmt10b |
C |
A |
4: 45,314,378 (GRCm39) |
Y271* |
probably null |
Het |
| Ubqln5 |
A |
T |
7: 103,778,095 (GRCm39) |
V243E |
possibly damaging |
Het |
| Ubqln5 |
T |
C |
7: 103,778,134 (GRCm39) |
D230G |
probably damaging |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,193 (GRCm39) |
F146S |
probably damaging |
Het |
| Vmn1r160 |
T |
A |
7: 22,570,827 (GRCm39) |
V60E |
probably damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,185 (GRCm39) |
D390V |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,200,793 (GRCm39) |
R388Q |
possibly damaging |
Het |
| Vmn2r72 |
A |
T |
7: 85,398,369 (GRCm39) |
V537D |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,226,591 (GRCm39) |
S416P |
probably damaging |
Het |
| Vmn2r98 |
C |
A |
17: 19,285,595 (GRCm39) |
Y138* |
probably null |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,696,824 (GRCm39) |
V620A |
probably benign |
Het |
| Xrra1 |
A |
C |
7: 99,560,227 (GRCm39) |
E401A |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,242,362 (GRCm39) |
C688* |
probably null |
Het |
| Zfp3 |
T |
A |
11: 70,662,954 (GRCm39) |
Y304* |
probably null |
Het |
| Zfp407 |
A |
T |
18: 84,577,461 (GRCm39) |
D1217E |
probably benign |
Het |
| Zfp658 |
T |
C |
7: 43,223,245 (GRCm39) |
Y507H |
possibly damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,659,252 (GRCm39) |
T220A |
possibly damaging |
Het |
| Zmym4 |
C |
G |
4: 126,796,463 (GRCm39) |
K820N |
possibly 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 |
|
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 |
|
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'- CTGTCATACCTGGAAGGGAC -3'
(R):5'- GCTGGCTCTTTCCCTACAAAATTG -3'
Sequencing Primer
(F):5'- CTGGAAGGGACATGAAAACACATTTC -3'
(R):5'- GCTGCTATTCATGACCTGT -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation