Incidental Mutation 'R0607:Abca4'
| ID |
54233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abca4
|
| Ensembl Gene |
ENSMUSG00000028125 |
| Gene Name |
ATP-binding cassette, sub-family A member 4 |
| Synonyms |
Rim protein, RmP, D430003I15Rik, Abc10 |
| MMRRC Submission |
038796-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0607 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
121838092-121973772 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121950081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 594
(G594S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013995]
[ENSMUST00000141135]
|
| AlphaFold |
O35600 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013995
AA Change: G1802S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000013995
Gene: ENSMUSG00000028125
AA Change: G1802S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
42 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
608 |
856 |
5e-17 |
PFAM |
|
AAA
|
955 |
1145 |
9.42e-13 |
SMART |
|
transmembrane domain
|
1372 |
1394 |
N/A |
INTRINSIC |
|
Pfam:ABC2_membrane_3
|
1522 |
1894 |
2.9e-44 |
PFAM |
|
AAA
|
1963 |
2147 |
7.09e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141135
AA Change: G594S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143560
Gene: ENSMUSG00000028125
AA Change: G594S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:AAA
|
1 |
172 |
9e-78 |
BLAST |
|
Pfam:ABC2_membrane_3
|
311 |
686 |
1.9e-42 |
PFAM |
|
AAA
|
755 |
939 |
1.2e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198484
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(8) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 147 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,288,625 (GRCm39) |
E146G |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,338,362 (GRCm39) |
Y726H |
probably damaging |
Het |
| Adam20 |
T |
A |
8: 41,248,517 (GRCm39) |
M209K |
probably benign |
Het |
| Adam29 |
A |
G |
8: 56,326,310 (GRCm39) |
V48A |
probably damaging |
Het |
| Adss2 |
A |
G |
1: 177,595,253 (GRCm39) |
V429A |
possibly damaging |
Het |
| Aff1 |
T |
C |
5: 103,976,320 (GRCm39) |
S481P |
probably damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,288,459 (GRCm39) |
A146T |
probably benign |
Het |
| Ankhd1 |
G |
T |
18: 36,773,333 (GRCm39) |
V59F |
probably damaging |
Het |
| Ankmy1 |
T |
G |
1: 92,816,397 (GRCm39) |
Y239S |
probably damaging |
Het |
| Ankrd24 |
G |
T |
10: 81,474,142 (GRCm39) |
C19F |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,845,065 (GRCm39) |
H1002R |
probably damaging |
Het |
| Apc2 |
T |
C |
10: 80,149,935 (GRCm39) |
I1663T |
probably benign |
Het |
| Apcdd1 |
A |
G |
18: 63,084,967 (GRCm39) |
N388S |
possibly damaging |
Het |
| Arap2 |
G |
A |
5: 62,763,474 (GRCm39) |
P1557S |
possibly damaging |
Het |
| Armc2 |
T |
A |
10: 41,798,691 (GRCm39) |
H706L |
probably benign |
Het |
| Arrb1 |
T |
C |
7: 99,237,403 (GRCm39) |
|
probably null |
Het |
| Atl3 |
T |
C |
19: 7,507,031 (GRCm39) |
|
probably null |
Het |
| B9d2 |
A |
G |
7: 25,382,757 (GRCm39) |
T44A |
probably damaging |
Het |
| Btbd3 |
C |
T |
2: 138,125,736 (GRCm39) |
R307W |
possibly damaging |
Het |
| C1galt1 |
T |
C |
6: 7,871,193 (GRCm39) |
I343T |
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,356,460 (GRCm39) |
D1901G |
probably damaging |
Het |
| Ccdc42 |
C |
T |
11: 68,488,536 (GRCm39) |
Q312* |
probably null |
Het |
| Cdh18 |
T |
C |
15: 23,410,876 (GRCm39) |
Y454H |
probably benign |
Het |
| Celf5 |
G |
A |
10: 81,301,839 (GRCm39) |
T317I |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,311,211 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,414,660 (GRCm39) |
|
probably null |
Het |
| Cep350 |
T |
C |
1: 155,747,794 (GRCm39) |
D2042G |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,235,184 (GRCm39) |
D2054G |
probably damaging |
Het |
| Chgb |
A |
G |
2: 132,635,255 (GRCm39) |
H399R |
probably benign |
Het |
| Clp1 |
C |
T |
2: 84,555,935 (GRCm39) |
A182T |
possibly damaging |
Het |
| Col15a1 |
A |
G |
4: 47,282,654 (GRCm39) |
N777S |
probably damaging |
Het |
| Coq6 |
A |
G |
12: 84,415,412 (GRCm39) |
D145G |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,108 (GRCm39) |
Y325C |
probably benign |
Het |
| Ctnna2 |
T |
C |
6: 76,879,413 (GRCm39) |
T824A |
probably benign |
Het |
| Cyp4x1 |
T |
A |
4: 114,970,023 (GRCm39) |
D368V |
probably damaging |
Het |
| D430041D05Rik |
C |
T |
2: 104,063,790 (GRCm39) |
R1354H |
probably damaging |
Het |
| D6Ertd527e |
A |
C |
6: 87,088,887 (GRCm39) |
D350A |
unknown |
Het |
| Ddx24 |
A |
G |
12: 103,385,326 (GRCm39) |
Y426H |
possibly damaging |
Het |
| Dexi |
G |
T |
16: 10,360,426 (GRCm39) |
Y43* |
probably null |
Het |
| Dgka |
A |
G |
10: 128,556,338 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
A |
T |
8: 110,285,575 (GRCm39) |
D419E |
probably benign |
Het |
| Dlg1 |
G |
A |
16: 31,656,992 (GRCm39) |
V596I |
possibly damaging |
Het |
| Dlg1 |
C |
A |
16: 31,484,398 (GRCm39) |
Q9K |
probably benign |
Het |
| Dnah11 |
A |
C |
12: 118,046,246 (GRCm39) |
W1731G |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,369,995 (GRCm39) |
N4473K |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,051,480 (GRCm39) |
S3152A |
probably benign |
Het |
| Egfl7 |
C |
T |
2: 26,479,452 (GRCm39) |
T68I |
probably damaging |
Het |
| Eif2a |
G |
A |
3: 58,463,073 (GRCm39) |
|
probably null |
Het |
| Emb |
G |
A |
13: 117,369,286 (GRCm39) |
V56I |
possibly damaging |
Het |
| Enpp4 |
A |
T |
17: 44,410,386 (GRCm39) |
C397S |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,386,471 (GRCm39) |
T151A |
possibly damaging |
Het |
| Ero1b |
A |
G |
13: 12,589,747 (GRCm39) |
D50G |
probably damaging |
Het |
| Fam219a |
A |
G |
4: 41,520,242 (GRCm39) |
*169Q |
probably null |
Het |
| Fga |
G |
A |
3: 82,935,869 (GRCm39) |
G32E |
probably damaging |
Het |
| Fkbpl |
T |
C |
17: 34,864,333 (GRCm39) |
F34L |
probably benign |
Het |
| Fsd2 |
T |
A |
7: 81,194,765 (GRCm39) |
D466V |
probably damaging |
Het |
| Gja1 |
A |
G |
10: 56,264,166 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Gm5478 |
T |
A |
15: 101,553,059 (GRCm39) |
I338F |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,732,194 (GRCm39) |
Y1589F |
probably damaging |
Het |
| Grk3 |
C |
T |
5: 113,067,919 (GRCm39) |
E537K |
probably damaging |
Het |
| H2-K2 |
G |
T |
17: 34,218,474 (GRCm39) |
D127E |
probably damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,137,966 (GRCm39) |
L383P |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,197,921 (GRCm39) |
|
probably null |
Het |
| Il1r2 |
A |
G |
1: 40,144,615 (GRCm39) |
K101E |
probably benign |
Het |
| Itga11 |
A |
T |
9: 62,681,653 (GRCm39) |
H1054L |
probably benign |
Het |
| Kif13a |
A |
T |
13: 46,956,187 (GRCm39) |
V539D |
probably damaging |
Het |
| Kifc1 |
G |
A |
17: 34,105,621 (GRCm39) |
T62I |
probably damaging |
Het |
| Klhl28 |
A |
G |
12: 64,998,529 (GRCm39) |
Y322H |
probably damaging |
Het |
| Klhl6 |
C |
A |
16: 19,775,764 (GRCm39) |
D265Y |
possibly damaging |
Het |
| Krt86 |
T |
A |
15: 101,377,412 (GRCm39) |
C479S |
unknown |
Het |
| Lama2 |
C |
T |
10: 27,065,127 (GRCm39) |
R1179H |
probably benign |
Het |
| Lce6a |
A |
T |
3: 92,527,635 (GRCm39) |
H57Q |
probably benign |
Het |
| Lcn11 |
T |
C |
2: 25,669,305 (GRCm39) |
V154A |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,758,816 (GRCm39) |
F843I |
probably damaging |
Het |
| Lrrc49 |
C |
T |
9: 60,573,640 (GRCm39) |
V281I |
probably benign |
Het |
| Lrrtm1 |
C |
A |
6: 77,221,611 (GRCm39) |
A356E |
probably damaging |
Het |
| Map3k1 |
A |
C |
13: 111,900,044 (GRCm39) |
H493Q |
probably benign |
Het |
| Mcm4 |
A |
T |
16: 15,449,979 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
C |
T |
4: 32,712,014 (GRCm39) |
P1844L |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,732,829 (GRCm39) |
D3076E |
probably benign |
Het |
| Med6 |
A |
T |
12: 81,635,798 (GRCm39) |
L27H |
probably damaging |
Het |
| Mrtfb |
A |
G |
16: 13,199,465 (GRCm39) |
E106G |
probably damaging |
Het |
| Myo7a |
T |
A |
7: 97,721,153 (GRCm39) |
T1271S |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,829,076 (GRCm39) |
M2376K |
probably benign |
Het |
| Nell2 |
G |
A |
15: 95,127,095 (GRCm39) |
T760I |
probably benign |
Het |
| Neurod6 |
C |
T |
6: 55,656,572 (GRCm39) |
A22T |
probably benign |
Het |
| Nlrp10 |
T |
C |
7: 108,523,492 (GRCm39) |
K663E |
probably benign |
Het |
| Nopchap1 |
T |
C |
10: 83,197,961 (GRCm39) |
S56P |
probably benign |
Het |
| Npr3 |
T |
A |
15: 11,845,368 (GRCm39) |
K501N |
probably benign |
Het |
| Nr2f2 |
C |
A |
7: 70,004,460 (GRCm39) |
R264L |
probably damaging |
Het |
| Nup35 |
T |
A |
2: 80,472,984 (GRCm39) |
M19K |
probably benign |
Het |
| Oacyl |
A |
T |
18: 65,880,962 (GRCm39) |
Q592L |
possibly damaging |
Het |
| Or10a4 |
T |
A |
7: 106,696,933 (GRCm39) |
I87K |
probably benign |
Het |
| Or1ad6 |
C |
A |
11: 50,860,670 (GRCm39) |
A275D |
possibly damaging |
Het |
| Or2v1 |
C |
G |
11: 49,025,549 (GRCm39) |
H177D |
probably damaging |
Het |
| Or4a71 |
A |
G |
2: 89,358,451 (GRCm39) |
V101A |
possibly damaging |
Het |
| Or5af1 |
T |
A |
11: 58,722,798 (GRCm39) |
S273T |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5b122 |
T |
A |
19: 13,563,534 (GRCm39) |
Y289N |
probably damaging |
Het |
| Or5p51 |
A |
G |
7: 107,444,776 (GRCm39) |
S55P |
probably damaging |
Het |
| Or6c76b |
T |
G |
10: 129,693,070 (GRCm39) |
S228A |
possibly damaging |
Het |
| Or8k25 |
T |
A |
2: 86,243,514 (GRCm39) |
N294I |
probably damaging |
Het |
| Or9k7 |
T |
C |
10: 130,046,939 (GRCm39) |
E20G |
probably benign |
Het |
| Patl2 |
T |
C |
2: 121,957,150 (GRCm39) |
Y128C |
probably benign |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,942 (GRCm39) |
I641V |
probably benign |
Het |
| Polr2b |
T |
C |
5: 77,461,006 (GRCm39) |
|
probably benign |
Het |
| Pot1b |
A |
T |
17: 55,972,765 (GRCm39) |
I469N |
probably damaging |
Het |
| Prdm11 |
G |
T |
2: 92,844,130 (GRCm39) |
D33E |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,589,921 (GRCm39) |
S2595G |
probably damaging |
Het |
| Prrc1 |
G |
A |
18: 57,507,622 (GRCm39) |
V259I |
possibly damaging |
Het |
| Prrc2b |
G |
T |
2: 32,103,882 (GRCm39) |
R1120L |
probably damaging |
Het |
| Prss38 |
T |
C |
11: 59,266,369 (GRCm39) |
S30G |
possibly damaging |
Het |
| Raph1 |
A |
T |
1: 60,565,028 (GRCm39) |
L153Q |
probably damaging |
Het |
| Reck |
A |
G |
4: 43,940,719 (GRCm39) |
T843A |
probably benign |
Het |
| Rgs7bp |
T |
C |
13: 105,103,610 (GRCm39) |
N164D |
probably benign |
Het |
| Rpusd4 |
C |
A |
9: 35,179,289 (GRCm39) |
A35D |
possibly damaging |
Het |
| Setd1b |
T |
C |
5: 123,298,014 (GRCm39) |
|
probably benign |
Het |
| Siglec15 |
G |
T |
18: 78,089,352 (GRCm39) |
D297E |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,834,656 (GRCm39) |
C13* |
probably null |
Het |
| Slc5a12 |
A |
G |
2: 110,463,088 (GRCm39) |
M395V |
probably benign |
Het |
| Sohlh2 |
C |
A |
3: 55,115,104 (GRCm39) |
S363Y |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,700,080 (GRCm39) |
V966E |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,940,462 (GRCm39) |
P266L |
probably damaging |
Het |
| Stxbp5l |
G |
A |
16: 36,962,794 (GRCm39) |
H754Y |
probably benign |
Het |
| Synpo2l |
A |
T |
14: 20,710,748 (GRCm39) |
M624K |
probably damaging |
Het |
| Tas2r136 |
T |
C |
6: 132,754,375 (GRCm39) |
I251V |
probably benign |
Het |
| Tecpr1 |
C |
T |
5: 144,149,408 (GRCm39) |
V340M |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,299,501 (GRCm39) |
G196S |
probably damaging |
Het |
| Tex55 |
A |
C |
16: 38,648,726 (GRCm39) |
S128A |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,331,541 (GRCm39) |
|
probably null |
Het |
| Timeless |
T |
C |
10: 128,082,203 (GRCm39) |
V577A |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,553,071 (GRCm39) |
V340E |
probably damaging |
Het |
| Tmem132c |
T |
A |
5: 127,640,617 (GRCm39) |
Y929* |
probably null |
Het |
| Tmprss7 |
C |
T |
16: 45,489,914 (GRCm39) |
R436Q |
probably damaging |
Het |
| Tnik |
A |
C |
3: 28,704,308 (GRCm39) |
K989T |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,890,892 (GRCm39) |
Y412N |
probably damaging |
Het |
| Trmt44 |
A |
G |
5: 35,726,103 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
C |
A |
19: 18,849,585 (GRCm39) |
T1704N |
probably benign |
Het |
| Tsc2 |
A |
T |
17: 24,840,686 (GRCm39) |
V391E |
probably damaging |
Het |
| Ttc22 |
T |
C |
4: 106,496,510 (GRCm39) |
V520A |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,257,644 (GRCm39) |
Y1650* |
probably null |
Het |
| Vmn2r24 |
A |
G |
6: 123,763,893 (GRCm39) |
T257A |
probably benign |
Het |
| Xab2 |
A |
C |
8: 3,663,605 (GRCm39) |
N408K |
probably benign |
Het |
| Zbtb42 |
A |
T |
12: 112,647,061 (GRCm39) |
Y412F |
probably benign |
Het |
| Zfp282 |
A |
G |
6: 47,857,303 (GRCm39) |
N179D |
probably damaging |
Het |
| Zfp62 |
C |
A |
11: 49,106,227 (GRCm39) |
T106K |
probably benign |
Het |
|
| Other mutations in Abca4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Abca4
|
APN |
3 |
121,856,353 (GRCm39) |
splice site |
probably null |
|
|
IGL00229:Abca4
|
APN |
3 |
121,964,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00858:Abca4
|
APN |
3 |
121,967,537 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01316:Abca4
|
APN |
3 |
121,935,404 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01357:Abca4
|
APN |
3 |
121,897,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01784:Abca4
|
APN |
3 |
121,932,154 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01903:Abca4
|
APN |
3 |
121,949,050 (GRCm39) |
splice site |
probably benign |
|
|
IGL02008:Abca4
|
APN |
3 |
121,969,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02113:Abca4
|
APN |
3 |
121,904,127 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02142:Abca4
|
APN |
3 |
121,963,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02200:Abca4
|
APN |
3 |
121,862,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02203:Abca4
|
APN |
3 |
121,973,457 (GRCm39) |
missense |
probably benign |
|
|
IGL02306:Abca4
|
APN |
3 |
121,952,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02307:Abca4
|
APN |
3 |
121,935,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02673:Abca4
|
APN |
3 |
121,897,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02864:Abca4
|
APN |
3 |
121,937,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02886:Abca4
|
APN |
3 |
121,921,863 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02934:Abca4
|
APN |
3 |
121,956,008 (GRCm39) |
nonsense |
probably null |
|
|
IGL02992:Abca4
|
APN |
3 |
121,921,935 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03083:Abca4
|
APN |
3 |
121,932,261 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03258:Abca4
|
APN |
3 |
121,931,210 (GRCm39) |
splice site |
probably benign |
|
|
IGL03279:Abca4
|
APN |
3 |
121,935,381 (GRCm39) |
missense |
probably benign |
0.12 |
|
3-1:Abca4
|
UTSW |
3 |
121,874,574 (GRCm39) |
missense |
probably benign |
0.01 |
|
B6819:Abca4
|
UTSW |
3 |
121,897,273 (GRCm39) |
splice site |
probably benign |
|
|
K7894:Abca4
|
UTSW |
3 |
121,941,517 (GRCm39) |
frame shift |
probably null |
|
|
PIT4151001:Abca4
|
UTSW |
3 |
121,930,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4453001:Abca4
|
UTSW |
3 |
121,898,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0001:Abca4
|
UTSW |
3 |
121,874,660 (GRCm39) |
splice site |
probably benign |
|
|
R0091:Abca4
|
UTSW |
3 |
121,932,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0138:Abca4
|
UTSW |
3 |
121,899,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0344:Abca4
|
UTSW |
3 |
121,877,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Abca4
|
UTSW |
3 |
121,913,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0508:Abca4
|
UTSW |
3 |
121,917,200 (GRCm39) |
splice site |
probably benign |
|
|
R0835:Abca4
|
UTSW |
3 |
121,919,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0839:Abca4
|
UTSW |
3 |
121,920,527 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1138:Abca4
|
UTSW |
3 |
121,967,497 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1448:Abca4
|
UTSW |
3 |
121,956,577 (GRCm39) |
splice site |
probably null |
|
|
R1453:Abca4
|
UTSW |
3 |
121,862,763 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1533:Abca4
|
UTSW |
3 |
121,928,807 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1645:Abca4
|
UTSW |
3 |
121,948,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1763:Abca4
|
UTSW |
3 |
121,957,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Abca4
|
UTSW |
3 |
121,904,330 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1838:Abca4
|
UTSW |
3 |
121,921,954 (GRCm39) |
missense |
probably benign |
|
|
R1867:Abca4
|
UTSW |
3 |
121,899,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Abca4
|
UTSW |
3 |
121,862,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1935:Abca4
|
UTSW |
3 |
121,846,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1936:Abca4
|
UTSW |
3 |
121,846,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2165:Abca4
|
UTSW |
3 |
121,906,048 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2391:Abca4
|
UTSW |
3 |
121,952,071 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2403:Abca4
|
UTSW |
3 |
121,964,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3788:Abca4
|
UTSW |
3 |
121,846,561 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3814:Abca4
|
UTSW |
3 |
121,964,570 (GRCm39) |
splice site |
probably benign |
|
|
R4554:Abca4
|
UTSW |
3 |
121,949,992 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4649:Abca4
|
UTSW |
3 |
121,963,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Abca4
|
UTSW |
3 |
121,932,230 (GRCm39) |
nonsense |
probably null |
|
|
R4655:Abca4
|
UTSW |
3 |
121,941,147 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4668:Abca4
|
UTSW |
3 |
121,948,948 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4705:Abca4
|
UTSW |
3 |
121,899,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4788:Abca4
|
UTSW |
3 |
121,960,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Abca4
|
UTSW |
3 |
121,969,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4999:Abca4
|
UTSW |
3 |
121,899,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5301:Abca4
|
UTSW |
3 |
121,896,502 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5372:Abca4
|
UTSW |
3 |
121,848,988 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5395:Abca4
|
UTSW |
3 |
121,874,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5539:Abca4
|
UTSW |
3 |
121,963,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5583:Abca4
|
UTSW |
3 |
121,942,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5706:Abca4
|
UTSW |
3 |
121,847,910 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5719:Abca4
|
UTSW |
3 |
121,928,915 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5731:Abca4
|
UTSW |
3 |
121,926,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5802:Abca4
|
UTSW |
3 |
121,847,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5819:Abca4
|
UTSW |
3 |
121,930,630 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5853:Abca4
|
UTSW |
3 |
121,897,180 (GRCm39) |
missense |
probably benign |
|
|
R6053:Abca4
|
UTSW |
3 |
121,964,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6135:Abca4
|
UTSW |
3 |
121,932,096 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6185:Abca4
|
UTSW |
3 |
121,919,789 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6227:Abca4
|
UTSW |
3 |
121,930,743 (GRCm39) |
nonsense |
probably null |
|
|
R6293:Abca4
|
UTSW |
3 |
121,935,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6297:Abca4
|
UTSW |
3 |
121,926,179 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6367:Abca4
|
UTSW |
3 |
121,897,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Abca4
|
UTSW |
3 |
121,917,309 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6405:Abca4
|
UTSW |
3 |
121,967,311 (GRCm39) |
splice site |
probably null |
|
|
R6525:Abca4
|
UTSW |
3 |
121,931,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6602:Abca4
|
UTSW |
3 |
121,932,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6681:Abca4
|
UTSW |
3 |
121,915,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6747:Abca4
|
UTSW |
3 |
121,919,962 (GRCm39) |
splice site |
probably null |
|
|
R6852:Abca4
|
UTSW |
3 |
121,928,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7049:Abca4
|
UTSW |
3 |
121,941,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7072:Abca4
|
UTSW |
3 |
121,967,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Abca4
|
UTSW |
3 |
121,932,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7110:Abca4
|
UTSW |
3 |
121,926,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7138:Abca4
|
UTSW |
3 |
121,899,113 (GRCm39) |
nonsense |
probably null |
|
|
R7172:Abca4
|
UTSW |
3 |
121,897,189 (GRCm39) |
nonsense |
probably null |
|
|
R7263:Abca4
|
UTSW |
3 |
121,847,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7414:Abca4
|
UTSW |
3 |
121,896,387 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7537:Abca4
|
UTSW |
3 |
121,967,637 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7577:Abca4
|
UTSW |
3 |
121,967,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7665:Abca4
|
UTSW |
3 |
121,838,139 (GRCm39) |
start gained |
probably benign |
|
|
R7758:Abca4
|
UTSW |
3 |
121,921,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7935:Abca4
|
UTSW |
3 |
121,904,186 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8237:Abca4
|
UTSW |
3 |
121,955,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8255:Abca4
|
UTSW |
3 |
121,948,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8294:Abca4
|
UTSW |
3 |
121,897,217 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8504:Abca4
|
UTSW |
3 |
121,922,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8536:Abca4
|
UTSW |
3 |
121,973,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8714:Abca4
|
UTSW |
3 |
121,942,528 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8771:Abca4
|
UTSW |
3 |
121,880,320 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8835:Abca4
|
UTSW |
3 |
121,896,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8845:Abca4
|
UTSW |
3 |
121,930,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Abca4
|
UTSW |
3 |
121,906,096 (GRCm39) |
missense |
probably benign |
|
|
R8933:Abca4
|
UTSW |
3 |
121,921,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9052:Abca4
|
UTSW |
3 |
121,940,908 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9095:Abca4
|
UTSW |
3 |
121,967,556 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9221:Abca4
|
UTSW |
3 |
121,921,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Abca4
|
UTSW |
3 |
121,964,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Abca4
|
UTSW |
3 |
121,881,128 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9367:Abca4
|
UTSW |
3 |
121,838,197 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R9408:Abca4
|
UTSW |
3 |
121,931,274 (GRCm39) |
missense |
probably benign |
|
|
R9425:Abca4
|
UTSW |
3 |
121,926,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9464:Abca4
|
UTSW |
3 |
121,913,714 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9483:Abca4
|
UTSW |
3 |
121,879,275 (GRCm39) |
missense |
|
|
|
R9751:Abca4
|
UTSW |
3 |
121,881,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Abca4
|
UTSW |
3 |
121,950,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Abca4
|
UTSW |
3 |
121,897,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Abca4
|
UTSW |
3 |
121,967,563 (GRCm39) |
missense |
probably benign |
0.21 |
|
Z1177:Abca4
|
UTSW |
3 |
121,941,435 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Z1189:Abca4
|
UTSW |
3 |
121,877,642 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAACTTGGTTTGAAGACATGGCAC -3'
(R):5'- GGCTTACAAAGCCATTGCACTCAC -3'
Sequencing Primer
(F):5'- ACCAAGGAATGGAGTGTCTCTTTC -3'
(R):5'- TCCAGAGTAGGGAGTCTTGCC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation