Incidental Mutation 'R1474:Abca8a'
| ID |
163941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca8a
|
| Ensembl Gene |
ENSMUSG00000041828 |
| Gene Name |
ATP-binding cassette, sub-family A member 8a |
| Synonyms |
|
| MMRRC Submission |
039527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1474 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
109916460-109986804 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 109960635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 628
(A628S)
|
| 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: A627S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: A627S
| 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: A628S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: A628S
| 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: A628S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: A628S
| 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 |
probably benign
Transcript: ENSMUST00000146635
|
| SMART Domains |
Protein: ENSMUSP00000114393
Gene: ENSMUSG00000041828
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:ABC_tran
|
114 |
210 |
4.5e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154849
|
| Meta Mutation Damage Score |
0.2159 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
95% (104/110) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,036,405 (GRCm39) |
N568S |
probably damaging |
Het |
| Ada |
C |
T |
2: 163,574,814 (GRCm39) |
A108T |
possibly damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,069 (GRCm39) |
D147E |
possibly damaging |
Het |
| Ampd1 |
A |
T |
3: 103,006,154 (GRCm39) |
T655S |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,327,139 (GRCm39) |
F680S |
probably damaging |
Het |
| Asap1 |
G |
A |
15: 63,991,869 (GRCm39) |
T783I |
probably benign |
Het |
| Astn1 |
T |
A |
1: 158,329,923 (GRCm39) |
N259K |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,886,673 (GRCm39) |
V667A |
probably damaging |
Het |
| Brat1 |
G |
A |
5: 140,698,382 (GRCm39) |
V185I |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,732,620 (GRCm39) |
Y318C |
probably damaging |
Het |
| Caskin2 |
G |
A |
11: 115,694,522 (GRCm39) |
P360S |
probably benign |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,503,642 (GRCm39) |
T21A |
probably benign |
Het |
| Cd68 |
T |
A |
11: 69,555,754 (GRCm39) |
|
probably benign |
Het |
| Cdca2 |
T |
C |
14: 67,952,355 (GRCm39) |
|
probably benign |
Het |
| Cdk6 |
G |
A |
5: 3,523,217 (GRCm39) |
M212I |
probably benign |
Het |
| Ceacam5 |
T |
A |
7: 17,481,159 (GRCm39) |
F302Y |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,301,055 (GRCm39) |
E2746G |
possibly damaging |
Het |
| Clec4a4 |
G |
A |
6: 122,989,703 (GRCm39) |
V115I |
probably benign |
Het |
| Clip3 |
C |
A |
7: 29,998,307 (GRCm39) |
A251E |
possibly damaging |
Het |
| Cmah |
T |
C |
13: 24,623,180 (GRCm39) |
L350P |
probably damaging |
Het |
| Cntnap5a |
C |
T |
1: 116,370,103 (GRCm39) |
R907* |
probably null |
Het |
| Cntnap5b |
T |
C |
1: 99,999,814 (GRCm39) |
Y191H |
probably benign |
Het |
| Col4a4 |
A |
T |
1: 82,458,207 (GRCm39) |
C1122* |
probably null |
Het |
| Coq5 |
A |
G |
5: 115,433,842 (GRCm39) |
|
probably benign |
Het |
| Cpxcr1 |
A |
G |
X: 115,387,136 (GRCm39) |
K16E |
possibly damaging |
Het |
| Dclk3 |
T |
C |
9: 111,298,304 (GRCm39) |
I616T |
probably benign |
Het |
| Dhrs3 |
A |
T |
4: 144,646,057 (GRCm39) |
T122S |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,210,596 (GRCm39) |
I502V |
probably benign |
Het |
| Dscaml1 |
G |
T |
9: 45,596,519 (GRCm39) |
G788W |
probably damaging |
Het |
| Dusp10 |
C |
T |
1: 183,769,645 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
C |
A |
19: 5,769,112 (GRCm39) |
L730F |
possibly damaging |
Het |
| Eif2ak1 |
C |
T |
5: 143,808,785 (GRCm39) |
H75Y |
probably damaging |
Het |
| Evi2a |
T |
C |
11: 79,418,398 (GRCm39) |
T71A |
probably benign |
Het |
| Fam184a |
A |
T |
10: 53,511,461 (GRCm39) |
S1073T |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,499,582 (GRCm39) |
Y591C |
probably damaging |
Het |
| Fam83a |
C |
T |
15: 57,873,272 (GRCm39) |
T367M |
probably benign |
Het |
| Fam83g |
A |
G |
11: 61,593,819 (GRCm39) |
D451G |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,203,185 (GRCm39) |
F1213L |
possibly damaging |
Het |
| Fcgbp |
G |
A |
7: 27,791,273 (GRCm39) |
V845I |
probably benign |
Het |
| Fermt1 |
C |
T |
2: 132,766,942 (GRCm39) |
E342K |
probably benign |
Het |
| Foxn1 |
T |
A |
11: 78,251,933 (GRCm39) |
M433L |
probably benign |
Het |
| Gm6632 |
T |
G |
5: 59,211,679 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl3 |
A |
T |
14: 30,738,418 (GRCm39) |
|
probably benign |
Het |
| Hhipl1 |
C |
T |
12: 108,277,996 (GRCm39) |
T108I |
probably damaging |
Het |
| Hs2st1 |
A |
T |
3: 144,141,256 (GRCm39) |
F271I |
possibly damaging |
Het |
| Ido1 |
T |
C |
8: 25,074,462 (GRCm39) |
S303G |
probably damaging |
Het |
| Ints2 |
C |
T |
11: 86,117,607 (GRCm39) |
R705H |
probably damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,292,305 (GRCm39) |
K49E |
probably damaging |
Het |
| Kif3b |
T |
A |
2: 153,162,235 (GRCm39) |
V482E |
probably damaging |
Het |
| Ldlrad2 |
G |
A |
4: 137,299,525 (GRCm39) |
P100S |
probably benign |
Het |
| Lrba |
G |
T |
3: 86,687,573 (GRCm39) |
|
probably benign |
Het |
| Lsm11 |
A |
T |
11: 45,824,730 (GRCm39) |
W266R |
probably benign |
Het |
| Mob3a |
A |
T |
10: 80,522,988 (GRCm39) |
M215K |
probably benign |
Het |
| Mterf1b |
T |
G |
5: 4,247,163 (GRCm39) |
L268R |
probably damaging |
Het |
| Mvk |
T |
C |
5: 114,598,157 (GRCm39) |
F365L |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,552,796 (GRCm39) |
F945I |
probably damaging |
Het |
| Myo1f |
G |
T |
17: 33,813,001 (GRCm39) |
K602N |
possibly damaging |
Het |
| Nr2c2ap |
A |
T |
8: 70,585,765 (GRCm39) |
M108L |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Ogfrl1 |
A |
G |
1: 23,414,890 (GRCm39) |
F206L |
probably damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,188 (GRCm39) |
I148N |
probably damaging |
Het |
| Or14c46 |
G |
T |
7: 85,918,270 (GRCm39) |
H242Q |
probably damaging |
Het |
| Or4d10b |
T |
A |
19: 12,036,844 (GRCm39) |
T91S |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,701,288 (GRCm39) |
Y261C |
probably damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,824 (GRCm39) |
M243L |
probably benign |
Het |
| Or9m2 |
A |
G |
2: 87,821,334 (GRCm39) |
N293S |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,536,876 (GRCm39) |
|
probably null |
Het |
| Pah |
G |
T |
10: 87,414,175 (GRCm39) |
K341N |
probably damaging |
Het |
| Pfdn5 |
T |
A |
15: 102,236,946 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
A |
G |
18: 63,216,202 (GRCm39) |
C960R |
probably damaging |
Het |
| Pitx2 |
T |
C |
3: 129,012,488 (GRCm39) |
V306A |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,792,236 (GRCm39) |
|
probably benign |
Het |
| Plekho1 |
T |
C |
3: 95,896,878 (GRCm39) |
E197G |
probably damaging |
Het |
| Polr2i |
A |
G |
7: 29,932,227 (GRCm39) |
N34S |
probably damaging |
Het |
| Psph |
A |
T |
5: 129,848,614 (GRCm39) |
D22E |
probably damaging |
Het |
| Ptprs |
C |
A |
17: 56,731,128 (GRCm39) |
A687S |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,788,265 (GRCm39) |
K606R |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,208,868 (GRCm39) |
V703A |
possibly damaging |
Het |
| Rims1 |
A |
G |
1: 22,577,362 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,328,576 (GRCm39) |
P2002L |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,740,307 (GRCm39) |
C555S |
probably damaging |
Het |
| Sftpd |
C |
A |
14: 40,894,384 (GRCm39) |
G345V |
probably damaging |
Het |
| Slc41a1 |
T |
A |
1: 131,774,319 (GRCm39) |
M462K |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,264,990 (GRCm39) |
E676G |
probably damaging |
Het |
| Sox6 |
T |
A |
7: 115,300,926 (GRCm39) |
|
probably benign |
Het |
| Spdye4b |
G |
A |
5: 143,181,472 (GRCm39) |
R109Q |
probably damaging |
Het |
| Spef1l |
C |
A |
7: 139,556,555 (GRCm39) |
R144L |
probably benign |
Het |
| Spink8 |
A |
T |
9: 109,649,706 (GRCm39) |
I63L |
probably damaging |
Het |
| St3gal3 |
A |
G |
4: 117,871,983 (GRCm39) |
L73P |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,871,818 (GRCm39) |
L1247P |
probably benign |
Het |
| Tat |
A |
G |
8: 110,718,195 (GRCm39) |
R27G |
probably benign |
Het |
| Tcerg1l |
C |
T |
7: 137,881,804 (GRCm39) |
R295H |
probably damaging |
Het |
| Tfrc |
T |
C |
16: 32,445,467 (GRCm39) |
V596A |
probably damaging |
Het |
| Tgfb3 |
C |
T |
12: 86,116,120 (GRCm39) |
|
probably null |
Het |
| Tmed5 |
A |
T |
5: 108,280,248 (GRCm39) |
S15T |
probably benign |
Het |
| Tph1 |
A |
T |
7: 46,303,286 (GRCm39) |
S231T |
probably benign |
Het |
| Trim30d |
G |
A |
7: 104,121,701 (GRCm39) |
S198L |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,773,859 (GRCm39) |
M412T |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,612,589 (GRCm39) |
D15417E |
probably benign |
Het |
| U2surp |
A |
G |
9: 95,375,251 (GRCm39) |
I157T |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,156,890 (GRCm39) |
D2305G |
probably damaging |
Het |
| Uvssa |
A |
G |
5: 33,546,165 (GRCm39) |
K179E |
probably benign |
Het |
| Vps35l |
T |
C |
7: 118,359,436 (GRCm39) |
F230S |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,355,411 (GRCm39) |
K3391E |
probably benign |
Het |
| Xpo7 |
T |
A |
14: 70,936,473 (GRCm39) |
H170L |
probably benign |
Het |
| Zrsr2-ps1 |
T |
C |
11: 22,924,404 (GRCm39) |
W393R |
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 |
|
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'- CTGTATGGTTCCCTCCGCTGAATG -3'
(R):5'- TCAAGCCCACGAAGTGGATAACG -3'
Sequencing Primer
(F):5'- ATCACAGTGCCCTTTCTGGA -3'
(R):5'- cccccaagttgtaggtcaag -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation