Incidental Mutation 'R4790:Abca5'
ID |
368490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abca5
|
Ensembl Gene |
ENSMUSG00000018800 |
Gene Name |
ATP-binding cassette, sub-family A member 5 |
Synonyms |
ABC13, B930033A02Rik |
MMRRC Submission |
042418-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R4790 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
110160195-110228542 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 110202236 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 390
(T390P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043961]
[ENSMUST00000124714]
|
AlphaFold |
Q8K448 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043961
AA Change: T390P
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000047927 Gene: ENSMUSG00000018800 AA Change: T390P
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
29 |
416 |
4.3e-33 |
PFAM |
AAA
|
506 |
691 |
2.88e-8 |
SMART |
low complexity region
|
733 |
744 |
N/A |
INTRINSIC |
transmembrane domain
|
864 |
886 |
N/A |
INTRINSIC |
transmembrane domain
|
971 |
993 |
N/A |
INTRINSIC |
low complexity region
|
1262 |
1267 |
N/A |
INTRINSIC |
AAA
|
1325 |
1512 |
3.52e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124714
AA Change: T390P
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000120708 Gene: ENSMUSG00000018800 AA Change: T390P
Domain | Start | End | E-Value | Type |
Pfam:ABC2_membrane_3
|
30 |
416 |
9.5e-32 |
PFAM |
AAA
|
506 |
691 |
2.88e-8 |
SMART |
low complexity region
|
733 |
744 |
N/A |
INTRINSIC |
transmembrane domain
|
864 |
886 |
N/A |
INTRINSIC |
transmembrane domain
|
971 |
993 |
N/A |
INTRINSIC |
transmembrane domain
|
1019 |
1041 |
N/A |
INTRINSIC |
transmembrane domain
|
1074 |
1096 |
N/A |
INTRINSIC |
transmembrane domain
|
1103 |
1125 |
N/A |
INTRINSIC |
transmembrane domain
|
1136 |
1158 |
N/A |
INTRINSIC |
transmembrane domain
|
1165 |
1187 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127318
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, and White). This encoded 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 gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted(3)
|
Other mutations in this stock |
Total: 118 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
A |
T |
10: 106,859,563 (GRCm39) |
Y345* |
probably null |
Het |
Adam26b |
A |
T |
8: 43,973,764 (GRCm39) |
S413T |
probably benign |
Het |
Angpt2 |
T |
A |
8: 18,764,098 (GRCm39) |
Q148L |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,823,981 (GRCm39) |
Y883* |
probably null |
Het |
Ankrd52 |
A |
G |
10: 128,216,814 (GRCm39) |
K190E |
possibly damaging |
Het |
Anks1b |
A |
G |
10: 89,999,137 (GRCm39) |
R415G |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,715,264 (GRCm39) |
Q58L |
probably benign |
Het |
Aoc1l2 |
T |
A |
6: 48,907,486 (GRCm39) |
I162N |
probably damaging |
Het |
Arhgap39 |
A |
T |
15: 76,610,931 (GRCm39) |
M924K |
possibly damaging |
Het |
AU040320 |
A |
G |
4: 126,741,008 (GRCm39) |
M910V |
possibly damaging |
Het |
BC051019 |
T |
A |
7: 109,315,553 (GRCm39) |
H86L |
probably benign |
Het |
C1qbp |
G |
A |
11: 70,870,856 (GRCm39) |
Q151* |
probably null |
Het |
C4b |
G |
T |
17: 34,953,117 (GRCm39) |
D1069E |
probably benign |
Het |
Casp1 |
C |
T |
9: 5,303,020 (GRCm39) |
T158I |
probably benign |
Het |
Casq1 |
T |
C |
1: 172,044,404 (GRCm39) |
D141G |
probably damaging |
Het |
Ccdc33 |
T |
A |
9: 57,937,240 (GRCm39) |
E653V |
probably damaging |
Het |
Cd180 |
C |
T |
13: 102,839,330 (GRCm39) |
T71M |
probably damaging |
Het |
Cdk4 |
T |
C |
10: 126,900,570 (GRCm39) |
L112P |
probably damaging |
Het |
Celf2 |
A |
G |
2: 6,554,714 (GRCm39) |
F425S |
probably damaging |
Het |
Chrm3 |
A |
T |
13: 9,927,698 (GRCm39) |
V446E |
probably benign |
Het |
Chst9 |
A |
T |
18: 15,586,107 (GRCm39) |
L152H |
probably damaging |
Het |
Cib2 |
A |
G |
9: 54,457,087 (GRCm39) |
|
probably null |
Het |
Clec18a |
T |
C |
8: 111,798,717 (GRCm39) |
S366G |
probably damaging |
Het |
Crebbp |
A |
G |
16: 3,997,983 (GRCm39) |
F34L |
probably damaging |
Het |
Dapk1 |
AT |
A |
13: 60,870,919 (GRCm39) |
|
probably null |
Het |
Ddi1 |
T |
A |
9: 6,265,761 (GRCm39) |
M203L |
probably benign |
Het |
Ddx20 |
G |
T |
3: 105,590,485 (GRCm39) |
S270R |
probably benign |
Het |
Eddm13 |
A |
T |
7: 6,269,317 (GRCm39) |
K31* |
probably null |
Het |
Espnl |
A |
T |
1: 91,272,146 (GRCm39) |
E458V |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,909,780 (GRCm39) |
D2074G |
probably damaging |
Het |
Fcf1 |
A |
G |
12: 85,020,902 (GRCm39) |
T61A |
probably benign |
Het |
Fkbp15 |
T |
C |
4: 62,226,234 (GRCm39) |
R772G |
probably benign |
Het |
Flnb |
T |
C |
14: 7,905,661 (GRCm38) |
V1137A |
probably benign |
Het |
Fosb |
C |
A |
7: 19,043,313 (GRCm39) |
C15F |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,424,162 (GRCm39) |
W3092R |
probably benign |
Het |
Gm3248 |
T |
C |
14: 5,945,831 (GRCm38) |
I28V |
probably damaging |
Het |
Gm4922 |
G |
T |
10: 18,659,916 (GRCm39) |
L269I |
possibly damaging |
Het |
Gucy2e |
G |
A |
11: 69,119,274 (GRCm39) |
R627W |
probably damaging |
Het |
Hephl1 |
T |
A |
9: 14,970,467 (GRCm39) |
E1009V |
probably damaging |
Het |
Hsf4 |
A |
T |
8: 105,997,237 (GRCm39) |
Q61L |
probably damaging |
Het |
Itgam |
T |
A |
7: 127,715,445 (GRCm39) |
N1046K |
probably benign |
Het |
Itgav |
G |
A |
2: 83,586,154 (GRCm39) |
C138Y |
probably damaging |
Het |
Itih4 |
A |
T |
14: 30,611,867 (GRCm39) |
Y157F |
probably damaging |
Het |
Kcnt2 |
C |
T |
1: 140,282,254 (GRCm39) |
R80C |
probably damaging |
Het |
Kdm4b |
G |
A |
17: 56,708,618 (GRCm39) |
V986M |
probably damaging |
Het |
Lamb3 |
T |
A |
1: 193,022,194 (GRCm39) |
V1014D |
probably damaging |
Het |
Lrrc74b |
G |
T |
16: 17,367,717 (GRCm39) |
N282K |
probably damaging |
Het |
Map3k20 |
T |
A |
2: 72,272,048 (GRCm39) |
H725Q |
probably benign |
Het |
Mink1 |
A |
G |
11: 70,489,867 (GRCm39) |
N81S |
probably damaging |
Het |
Mmp21 |
A |
G |
7: 133,276,759 (GRCm39) |
Y415H |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,466,873 (GRCm39) |
W1297R |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,170,789 (GRCm39) |
M95T |
probably damaging |
Het |
Myo7b |
A |
T |
18: 32,133,158 (GRCm39) |
|
probably null |
Het |
Nanog |
A |
G |
6: 122,684,874 (GRCm39) |
M20V |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,963,146 (GRCm39) |
I484V |
probably benign |
Het |
Ndufa12 |
A |
T |
10: 94,056,620 (GRCm39) |
N116I |
probably benign |
Het |
Nedd4l |
A |
G |
18: 65,337,016 (GRCm39) |
I668V |
possibly damaging |
Het |
Nhsl3 |
C |
A |
4: 129,117,095 (GRCm39) |
R523L |
probably damaging |
Het |
Nobox |
T |
C |
6: 43,282,480 (GRCm39) |
D309G |
probably benign |
Het |
Npnt |
A |
G |
3: 132,596,523 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
C |
17: 90,762,477 (GRCm39) |
Y2D |
possibly damaging |
Het |
Obox6 |
G |
T |
7: 15,568,502 (GRCm39) |
P125T |
possibly damaging |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Or14j8 |
T |
C |
17: 38,263,633 (GRCm39) |
Y94C |
probably damaging |
Het |
Or2ag15 |
C |
G |
7: 106,340,998 (GRCm39) |
V48L |
probably benign |
Het |
Or4s2b |
T |
A |
2: 88,508,731 (GRCm39) |
N177K |
possibly damaging |
Het |
Or56a3 |
T |
C |
7: 104,735,844 (GRCm39) |
|
probably benign |
Het |
Or5ac20 |
A |
T |
16: 59,104,821 (GRCm39) |
V13D |
probably damaging |
Het |
Or5an10 |
A |
G |
19: 12,276,305 (GRCm39) |
Y64H |
possibly damaging |
Het |
Or8k32 |
T |
C |
2: 86,369,224 (GRCm39) |
T10A |
possibly damaging |
Het |
Osm |
A |
T |
11: 4,188,435 (GRCm39) |
M21L |
probably benign |
Het |
Otogl |
T |
A |
10: 107,657,894 (GRCm39) |
|
probably null |
Het |
Otud4 |
T |
G |
8: 80,393,402 (GRCm39) |
S493A |
possibly damaging |
Het |
Pars2 |
A |
G |
4: 106,508,308 (GRCm39) |
|
probably benign |
Het |
Phlda3 |
T |
A |
1: 135,694,557 (GRCm39) |
V124E |
possibly damaging |
Het |
Pias4 |
T |
C |
10: 80,993,326 (GRCm39) |
D199G |
probably damaging |
Het |
Pm20d1 |
T |
C |
1: 131,739,777 (GRCm39) |
L375P |
probably benign |
Het |
Pole2 |
T |
C |
12: 69,273,139 (GRCm39) |
I48V |
probably benign |
Het |
Prrc2c |
T |
C |
1: 162,538,050 (GRCm39) |
R527G |
unknown |
Het |
Rasgrf2 |
G |
T |
13: 92,136,135 (GRCm39) |
N592K |
probably damaging |
Het |
Rbm7 |
A |
G |
9: 48,406,474 (GRCm39) |
L26P |
probably damaging |
Het |
Rhag |
A |
G |
17: 41,142,181 (GRCm39) |
H208R |
probably benign |
Het |
Rnf17 |
A |
G |
14: 56,671,812 (GRCm39) |
E268G |
probably damaging |
Het |
Rnf220 |
A |
G |
4: 117,146,252 (GRCm39) |
V23A |
probably benign |
Het |
Rnf7 |
A |
T |
9: 96,360,472 (GRCm39) |
V55D |
probably damaging |
Het |
Sdr9c7 |
C |
A |
10: 127,739,448 (GRCm39) |
R188S |
possibly damaging |
Het |
Senp6 |
T |
A |
9: 79,997,140 (GRCm39) |
N51K |
probably benign |
Het |
Skint3 |
C |
A |
4: 112,113,095 (GRCm39) |
T235K |
possibly damaging |
Het |
Slc10a5 |
A |
G |
3: 10,400,096 (GRCm39) |
F188S |
probably damaging |
Het |
Slc41a1 |
G |
A |
1: 131,758,690 (GRCm39) |
G111R |
probably damaging |
Het |
Smarca1 |
T |
C |
X: 46,972,944 (GRCm39) |
D132G |
probably null |
Het |
Snrnp48 |
C |
T |
13: 38,405,299 (GRCm39) |
R299W |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,437,705 (GRCm39) |
G1413D |
probably benign |
Het |
Star |
T |
A |
8: 26,298,644 (GRCm39) |
H16Q |
probably damaging |
Het |
Strc |
T |
C |
2: 121,206,075 (GRCm39) |
D779G |
probably benign |
Het |
Sulf2 |
T |
C |
2: 165,931,215 (GRCm39) |
Y264C |
probably damaging |
Het |
Supt7l |
A |
G |
5: 31,680,248 (GRCm39) |
S6P |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,067,165 (GRCm39) |
D4289G |
probably benign |
Het |
Szrd1 |
A |
T |
4: 140,867,001 (GRCm39) |
|
probably null |
Het |
Tada1 |
T |
C |
1: 166,219,523 (GRCm39) |
V275A |
possibly damaging |
Het |
Tbr1 |
A |
T |
2: 61,641,932 (GRCm39) |
Y136F |
probably benign |
Het |
Tbx20 |
T |
A |
9: 24,637,010 (GRCm39) |
H359L |
probably benign |
Het |
Thbs4 |
G |
T |
13: 92,899,314 (GRCm39) |
D560E |
probably damaging |
Het |
Tnfsf14 |
T |
C |
17: 57,497,740 (GRCm39) |
H164R |
probably damaging |
Het |
Trmu |
T |
C |
15: 85,767,006 (GRCm39) |
S72P |
probably damaging |
Het |
Tsnaxip1 |
C |
A |
8: 106,560,155 (GRCm39) |
Q36K |
probably benign |
Het |
Ttc28 |
T |
A |
5: 111,372,083 (GRCm39) |
M844K |
possibly damaging |
Het |
Tubgcp2 |
T |
C |
7: 139,579,201 (GRCm39) |
Y695C |
probably damaging |
Het |
Ugt1a10 |
T |
A |
1: 87,984,009 (GRCm39) |
M269K |
probably damaging |
Het |
Urb1 |
A |
T |
16: 90,566,443 (GRCm39) |
L1448* |
probably null |
Het |
Vmn2r124 |
A |
T |
17: 18,269,855 (GRCm39) |
H37L |
probably damaging |
Het |
Vmn2r44 |
T |
C |
7: 8,370,949 (GRCm39) |
N699S |
probably damaging |
Het |
Vps35 |
A |
T |
8: 86,005,486 (GRCm39) |
|
probably null |
Het |
Yipf1 |
G |
T |
4: 107,193,396 (GRCm39) |
|
probably null |
Het |
Zfp395 |
A |
G |
14: 65,623,990 (GRCm39) |
N153S |
possibly damaging |
Het |
Zfp395 |
A |
G |
14: 65,630,656 (GRCm39) |
D402G |
probably damaging |
Het |
Zfp652 |
T |
C |
11: 95,640,435 (GRCm39) |
V120A |
probably damaging |
Het |
Zp3r |
T |
C |
1: 130,510,629 (GRCm39) |
I364M |
probably damaging |
Het |
|
Other mutations in Abca5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00487:Abca5
|
APN |
11 |
110,200,276 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL00675:Abca5
|
APN |
11 |
110,195,811 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01512:Abca5
|
APN |
11 |
110,208,649 (GRCm39) |
missense |
probably benign |
0.40 |
IGL01559:Abca5
|
APN |
11 |
110,163,352 (GRCm39) |
missense |
probably benign |
|
IGL01584:Abca5
|
APN |
11 |
110,195,749 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01604:Abca5
|
APN |
11 |
110,168,462 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL01828:Abca5
|
APN |
11 |
110,178,521 (GRCm39) |
missense |
probably benign |
|
IGL01880:Abca5
|
APN |
11 |
110,184,089 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02054:Abca5
|
APN |
11 |
110,182,949 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02074:Abca5
|
APN |
11 |
110,184,176 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02233:Abca5
|
APN |
11 |
110,165,170 (GRCm39) |
nonsense |
probably null |
|
IGL02245:Abca5
|
APN |
11 |
110,188,995 (GRCm39) |
nonsense |
probably null |
|
IGL02317:Abca5
|
APN |
11 |
110,218,587 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02352:Abca5
|
APN |
11 |
110,166,156 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02359:Abca5
|
APN |
11 |
110,166,156 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02390:Abca5
|
APN |
11 |
110,187,377 (GRCm39) |
missense |
probably benign |
|
IGL02600:Abca5
|
APN |
11 |
110,200,264 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02639:Abca5
|
APN |
11 |
110,178,899 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL03000:Abca5
|
APN |
11 |
110,208,640 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03074:Abca5
|
APN |
11 |
110,201,101 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03078:Abca5
|
APN |
11 |
110,167,371 (GRCm39) |
nonsense |
probably null |
|
IGL03342:Abca5
|
APN |
11 |
110,178,517 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03368:Abca5
|
APN |
11 |
110,204,348 (GRCm39) |
splice site |
probably benign |
|
atles
|
UTSW |
11 |
110,190,755 (GRCm39) |
missense |
probably damaging |
0.99 |
Demento
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
jones
|
UTSW |
11 |
110,178,884 (GRCm39) |
splice site |
probably null |
|
smith
|
UTSW |
11 |
110,192,371 (GRCm39) |
missense |
probably benign |
0.22 |
R0106:Abca5
|
UTSW |
11 |
110,210,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R0116:Abca5
|
UTSW |
11 |
110,167,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R0305:Abca5
|
UTSW |
11 |
110,164,137 (GRCm39) |
splice site |
probably benign |
|
R0550:Abca5
|
UTSW |
11 |
110,184,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R0578:Abca5
|
UTSW |
11 |
110,167,315 (GRCm39) |
nonsense |
probably null |
|
R0587:Abca5
|
UTSW |
11 |
110,202,203 (GRCm39) |
missense |
probably benign |
0.00 |
R0610:Abca5
|
UTSW |
11 |
110,192,353 (GRCm39) |
missense |
probably benign |
0.00 |
R0617:Abca5
|
UTSW |
11 |
110,170,515 (GRCm39) |
missense |
probably damaging |
0.98 |
R0667:Abca5
|
UTSW |
11 |
110,218,637 (GRCm39) |
missense |
probably benign |
0.00 |
R0844:Abca5
|
UTSW |
11 |
110,210,658 (GRCm39) |
missense |
probably benign |
0.00 |
R1273:Abca5
|
UTSW |
11 |
110,217,491 (GRCm39) |
missense |
probably benign |
0.01 |
R1463:Abca5
|
UTSW |
11 |
110,205,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Abca5
|
UTSW |
11 |
110,190,812 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1511:Abca5
|
UTSW |
11 |
110,190,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R1687:Abca5
|
UTSW |
11 |
110,184,714 (GRCm39) |
missense |
probably benign |
0.32 |
R1759:Abca5
|
UTSW |
11 |
110,184,674 (GRCm39) |
missense |
probably benign |
|
R1870:Abca5
|
UTSW |
11 |
110,220,043 (GRCm39) |
missense |
probably benign |
0.33 |
R2006:Abca5
|
UTSW |
11 |
110,204,275 (GRCm39) |
missense |
probably benign |
|
R2039:Abca5
|
UTSW |
11 |
110,190,755 (GRCm39) |
missense |
probably damaging |
0.99 |
R2076:Abca5
|
UTSW |
11 |
110,178,478 (GRCm39) |
missense |
probably benign |
0.10 |
R2136:Abca5
|
UTSW |
11 |
110,210,658 (GRCm39) |
missense |
probably benign |
0.00 |
R2154:Abca5
|
UTSW |
11 |
110,183,000 (GRCm39) |
missense |
probably benign |
0.00 |
R2273:Abca5
|
UTSW |
11 |
110,166,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2274:Abca5
|
UTSW |
11 |
110,166,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2275:Abca5
|
UTSW |
11 |
110,166,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2328:Abca5
|
UTSW |
11 |
110,167,347 (GRCm39) |
missense |
probably damaging |
0.99 |
R3702:Abca5
|
UTSW |
11 |
110,178,884 (GRCm39) |
splice site |
probably null |
|
R3768:Abca5
|
UTSW |
11 |
110,204,217 (GRCm39) |
missense |
probably benign |
0.01 |
R3872:Abca5
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R3873:Abca5
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R3874:Abca5
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R3875:Abca5
|
UTSW |
11 |
110,201,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R4347:Abca5
|
UTSW |
11 |
110,190,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R4429:Abca5
|
UTSW |
11 |
110,202,236 (GRCm39) |
missense |
probably benign |
0.00 |
R4812:Abca5
|
UTSW |
11 |
110,192,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R4833:Abca5
|
UTSW |
11 |
110,170,142 (GRCm39) |
missense |
probably benign |
0.00 |
R4883:Abca5
|
UTSW |
11 |
110,217,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R5000:Abca5
|
UTSW |
11 |
110,201,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R5004:Abca5
|
UTSW |
11 |
110,170,202 (GRCm39) |
missense |
probably damaging |
0.99 |
R5066:Abca5
|
UTSW |
11 |
110,200,176 (GRCm39) |
intron |
probably benign |
|
R5230:Abca5
|
UTSW |
11 |
110,210,686 (GRCm39) |
missense |
probably benign |
|
R5321:Abca5
|
UTSW |
11 |
110,218,651 (GRCm39) |
missense |
probably benign |
|
R5350:Abca5
|
UTSW |
11 |
110,210,622 (GRCm39) |
nonsense |
probably null |
|
R5414:Abca5
|
UTSW |
11 |
110,205,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R5437:Abca5
|
UTSW |
11 |
110,210,622 (GRCm39) |
nonsense |
probably null |
|
R5451:Abca5
|
UTSW |
11 |
110,210,622 (GRCm39) |
nonsense |
probably null |
|
R5453:Abca5
|
UTSW |
11 |
110,210,622 (GRCm39) |
nonsense |
probably null |
|
R5488:Abca5
|
UTSW |
11 |
110,183,009 (GRCm39) |
missense |
probably benign |
0.00 |
R5636:Abca5
|
UTSW |
11 |
110,192,362 (GRCm39) |
missense |
probably benign |
0.00 |
R5805:Abca5
|
UTSW |
11 |
110,170,216 (GRCm39) |
missense |
probably benign |
0.06 |
R5900:Abca5
|
UTSW |
11 |
110,169,982 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6152:Abca5
|
UTSW |
11 |
110,204,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R6167:Abca5
|
UTSW |
11 |
110,182,931 (GRCm39) |
missense |
probably benign |
0.10 |
R6343:Abca5
|
UTSW |
11 |
110,205,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R6425:Abca5
|
UTSW |
11 |
110,220,058 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6493:Abca5
|
UTSW |
11 |
110,184,704 (GRCm39) |
missense |
probably benign |
0.00 |
R6498:Abca5
|
UTSW |
11 |
110,182,928 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6884:Abca5
|
UTSW |
11 |
110,220,043 (GRCm39) |
missense |
probably damaging |
0.96 |
R6912:Abca5
|
UTSW |
11 |
110,197,106 (GRCm39) |
missense |
probably benign |
0.35 |
R7084:Abca5
|
UTSW |
11 |
110,192,371 (GRCm39) |
missense |
probably benign |
0.22 |
R7239:Abca5
|
UTSW |
11 |
110,217,530 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7490:Abca5
|
UTSW |
11 |
110,168,437 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7527:Abca5
|
UTSW |
11 |
110,218,556 (GRCm39) |
critical splice donor site |
probably null |
|
R7702:Abca5
|
UTSW |
11 |
110,167,278 (GRCm39) |
critical splice donor site |
probably null |
|
R7763:Abca5
|
UTSW |
11 |
110,163,323 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8237:Abca5
|
UTSW |
11 |
110,200,981 (GRCm39) |
missense |
probably benign |
0.01 |
R8910:Abca5
|
UTSW |
11 |
110,189,030 (GRCm39) |
missense |
probably damaging |
0.96 |
R9028:Abca5
|
UTSW |
11 |
110,188,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R9124:Abca5
|
UTSW |
11 |
110,189,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9151:Abca5
|
UTSW |
11 |
110,188,908 (GRCm39) |
missense |
probably benign |
|
R9187:Abca5
|
UTSW |
11 |
110,200,961 (GRCm39) |
critical splice donor site |
probably null |
|
R9249:Abca5
|
UTSW |
11 |
110,220,165 (GRCm39) |
intron |
probably benign |
|
R9322:Abca5
|
UTSW |
11 |
110,192,331 (GRCm39) |
missense |
probably damaging |
0.96 |
R9391:Abca5
|
UTSW |
11 |
110,178,542 (GRCm39) |
missense |
probably benign |
|
R9435:Abca5
|
UTSW |
11 |
110,182,911 (GRCm39) |
critical splice donor site |
probably null |
|
R9557:Abca5
|
UTSW |
11 |
110,197,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R9660:Abca5
|
UTSW |
11 |
110,168,248 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9788:Abca5
|
UTSW |
11 |
110,192,253 (GRCm39) |
missense |
probably damaging |
1.00 |
RF014:Abca5
|
UTSW |
11 |
110,170,580 (GRCm39) |
critical splice acceptor site |
probably null |
|
Z1177:Abca5
|
UTSW |
11 |
110,170,154 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGCTGTAAAATACTCTGGCTAGGAG -3'
(R):5'- TTACGAAGCACCAACTGGG -3'
Sequencing Primer
(F):5'- CTCTGGCTAGGAGAAAAATTAAGTTG -3'
(R):5'- CCTGGTCTACATAGAGAGATCCTG -3'
|
Posted On |
2016-02-04 |