Incidental Mutation 'R1469:Abcb5'
ID |
197857 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb5
|
Ensembl Gene |
ENSMUSG00000072791 |
Gene Name |
ATP-binding cassette, sub-family B member 5 |
Synonyms |
9230106F14Rik |
MMRRC Submission |
039522-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R1469 (G1)
|
Quality Score |
210 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
118831559-118930156 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 118831681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 1224
(I1224L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035515]
|
AlphaFold |
B5X0E4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035515
AA Change: I1224L
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000046177 Gene: ENSMUSG00000072791 AA Change: I1224L
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane
|
49 |
338 |
1.9e-74 |
PFAM |
AAA
|
414 |
606 |
2.1e-19 |
SMART |
Pfam:ABC_membrane
|
693 |
967 |
7.3e-59 |
PFAM |
Blast:AAA
|
969 |
1040 |
2e-11 |
BLAST |
AAA
|
1043 |
1231 |
8.26e-18 |
SMART |
|
Meta Mutation Damage Score |
0.4696 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.8%
- 20x: 90.6%
|
Validation Efficiency |
98% (95/97) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 103 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,039,526 (GRCm39) |
V261E |
probably damaging |
Het |
Abca15 |
A |
G |
7: 119,981,720 (GRCm39) |
E1058G |
probably benign |
Het |
Actn4 |
G |
A |
7: 28,597,691 (GRCm39) |
|
probably benign |
Het |
Actn4 |
A |
G |
7: 28,604,753 (GRCm39) |
V348A |
probably benign |
Het |
Agtr1b |
A |
T |
3: 20,369,664 (GRCm39) |
L314H |
probably damaging |
Het |
Ankrd55 |
T |
C |
13: 112,504,460 (GRCm39) |
M402T |
probably benign |
Het |
Antxrl |
T |
C |
14: 33,789,388 (GRCm39) |
|
probably benign |
Het |
Asap2 |
A |
G |
12: 21,263,180 (GRCm39) |
Q265R |
probably benign |
Het |
Atp2b4 |
G |
A |
1: 133,634,677 (GRCm39) |
R1124C |
probably damaging |
Het |
Atp2c1 |
A |
T |
9: 105,312,351 (GRCm39) |
C353* |
probably null |
Het |
Atp8b5 |
T |
A |
4: 43,291,733 (GRCm39) |
|
probably null |
Het |
Baz1b |
T |
A |
5: 135,246,833 (GRCm39) |
Y761N |
probably damaging |
Het |
Bend6 |
A |
G |
1: 33,903,824 (GRCm39) |
V38A |
probably benign |
Het |
Camk1g |
T |
C |
1: 193,044,399 (GRCm39) |
E5G |
possibly damaging |
Het |
Ccdc14 |
T |
A |
16: 34,527,152 (GRCm39) |
H352Q |
probably damaging |
Het |
Cdh2 |
A |
G |
18: 16,757,324 (GRCm39) |
V641A |
possibly damaging |
Het |
Celsr2 |
C |
A |
3: 108,321,424 (GRCm39) |
D463Y |
probably damaging |
Het |
Cldn16 |
C |
A |
16: 26,292,930 (GRCm39) |
|
probably benign |
Het |
Clec7a |
A |
C |
6: 129,449,535 (GRCm39) |
|
probably benign |
Het |
Cnih2 |
T |
C |
19: 5,143,730 (GRCm39) |
Y142C |
probably damaging |
Het |
Coa5 |
T |
A |
1: 37,459,681 (GRCm39) |
R71* |
probably null |
Het |
Csmd3 |
A |
T |
15: 47,532,598 (GRCm39) |
Y2532* |
probably null |
Het |
Cytl1 |
A |
T |
5: 37,892,991 (GRCm39) |
M34L |
probably benign |
Het |
Dctn1 |
T |
A |
6: 83,169,871 (GRCm39) |
I590N |
probably damaging |
Het |
Dhx57 |
T |
C |
17: 80,561,847 (GRCm39) |
H889R |
probably damaging |
Het |
Dock10 |
A |
G |
1: 80,490,275 (GRCm39) |
I1948T |
probably benign |
Het |
Dock3 |
A |
T |
9: 106,832,908 (GRCm39) |
N1034K |
probably benign |
Het |
Dzip1l |
G |
A |
9: 99,541,829 (GRCm39) |
|
probably null |
Het |
Eif4g1 |
T |
A |
16: 20,498,758 (GRCm39) |
V439E |
possibly damaging |
Het |
Eml5 |
T |
C |
12: 98,825,082 (GRCm39) |
I712V |
probably benign |
Het |
Entrep1 |
G |
A |
19: 23,950,970 (GRCm39) |
T537I |
probably benign |
Het |
Epha3 |
C |
T |
16: 63,473,857 (GRCm39) |
G300D |
probably damaging |
Het |
Erbb4 |
A |
C |
1: 68,599,841 (GRCm39) |
S79A |
probably damaging |
Het |
Gclc |
T |
C |
9: 77,688,419 (GRCm39) |
V205A |
probably benign |
Het |
Gdpd4 |
A |
G |
7: 97,623,673 (GRCm39) |
|
probably null |
Het |
Gm11564 |
C |
T |
11: 99,706,058 (GRCm39) |
C124Y |
unknown |
Het |
Gm16494 |
T |
C |
17: 47,327,770 (GRCm39) |
E38G |
probably damaging |
Het |
Gtf2h1 |
T |
C |
7: 46,454,549 (GRCm39) |
|
probably null |
Het |
Gtsf2 |
G |
T |
15: 103,349,644 (GRCm39) |
R68S |
probably benign |
Het |
Heatr5b |
T |
C |
17: 79,115,813 (GRCm39) |
Q881R |
probably damaging |
Het |
Hmox1 |
C |
A |
8: 75,825,463 (GRCm39) |
L236I |
probably benign |
Het |
Ighv8-12 |
T |
C |
12: 115,611,963 (GRCm39) |
I7V |
probably benign |
Het |
Itprip |
A |
G |
19: 47,885,314 (GRCm39) |
Y434H |
probably damaging |
Het |
Izumo1 |
T |
C |
7: 45,272,437 (GRCm39) |
S73P |
probably damaging |
Het |
Kifbp |
A |
T |
10: 62,395,229 (GRCm39) |
F471Y |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,901,827 (GRCm39) |
N1176S |
possibly damaging |
Het |
Limch1 |
T |
C |
5: 67,039,323 (GRCm39) |
|
probably benign |
Het |
Mecom |
A |
T |
3: 30,034,197 (GRCm39) |
L493Q |
probably damaging |
Het |
Mprip |
T |
C |
11: 59,650,016 (GRCm39) |
V1240A |
probably damaging |
Het |
Mrpl3 |
T |
C |
9: 104,954,201 (GRCm39) |
S302P |
probably damaging |
Het |
Muc19 |
T |
C |
15: 91,758,498 (GRCm39) |
|
noncoding transcript |
Het |
Mycbp2 |
T |
C |
14: 103,425,956 (GRCm39) |
T2390A |
probably damaging |
Het |
Myo1c |
T |
C |
11: 75,560,787 (GRCm39) |
S766P |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,743,680 (GRCm39) |
Q247R |
probably damaging |
Het |
Nav3 |
G |
A |
10: 109,596,369 (GRCm39) |
T1423I |
probably damaging |
Het |
Nefh |
A |
T |
11: 4,890,066 (GRCm39) |
I851N |
probably benign |
Het |
Nup98 |
T |
C |
7: 101,788,008 (GRCm39) |
T1004A |
probably benign |
Het |
Or1e17 |
T |
C |
11: 73,831,383 (GRCm39) |
F104L |
probably benign |
Het |
Or1e22 |
G |
A |
11: 73,377,149 (GRCm39) |
S167L |
possibly damaging |
Het |
Or5k8 |
G |
A |
16: 58,644,973 (GRCm39) |
T33I |
probably benign |
Het |
Or5p76 |
T |
C |
7: 108,122,411 (GRCm39) |
T249A |
probably benign |
Het |
Osgin1 |
G |
T |
8: 120,172,124 (GRCm39) |
R306L |
possibly damaging |
Het |
Otof |
A |
G |
5: 30,537,571 (GRCm39) |
L1246P |
probably benign |
Het |
Pde8a |
T |
A |
7: 80,952,019 (GRCm39) |
N273K |
probably damaging |
Het |
Phf14 |
T |
A |
6: 11,933,726 (GRCm39) |
M196K |
possibly damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,373,585 (GRCm39) |
S1374P |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,400,282 (GRCm39) |
V2142A |
probably benign |
Het |
Plb1 |
A |
G |
5: 32,512,170 (GRCm39) |
E1318G |
possibly damaging |
Het |
Plekhh2 |
A |
G |
17: 84,883,199 (GRCm39) |
I756V |
probably benign |
Het |
Prag1 |
A |
T |
8: 36,613,452 (GRCm39) |
|
probably benign |
Het |
Primpol |
A |
G |
8: 47,046,672 (GRCm39) |
V208A |
probably benign |
Het |
Ptch2 |
C |
A |
4: 116,965,662 (GRCm39) |
A389E |
probably benign |
Het |
Pzp |
A |
G |
6: 128,489,319 (GRCm39) |
Y431H |
probably benign |
Het |
Rnf43 |
G |
A |
11: 87,622,233 (GRCm39) |
G445R |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,362,727 (GRCm39) |
|
probably null |
Het |
Sf3a1 |
A |
T |
11: 4,125,380 (GRCm39) |
|
probably benign |
Het |
Shisa9 |
T |
A |
16: 11,802,935 (GRCm39) |
M164K |
probably damaging |
Het |
Skint1 |
A |
G |
4: 111,882,708 (GRCm39) |
I251V |
probably benign |
Het |
Slc16a14 |
C |
T |
1: 84,907,182 (GRCm39) |
D31N |
probably damaging |
Het |
Slc22a13 |
T |
C |
9: 119,022,361 (GRCm39) |
S548G |
possibly damaging |
Het |
Slc4a9 |
T |
C |
18: 36,664,154 (GRCm39) |
F316L |
probably benign |
Het |
Smchd1 |
C |
T |
17: 71,656,725 (GRCm39) |
R1914H |
probably damaging |
Het |
Snx16 |
C |
T |
3: 10,499,431 (GRCm39) |
D200N |
probably damaging |
Het |
Spock3 |
A |
G |
8: 63,404,934 (GRCm39) |
D34G |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,467,916 (GRCm39) |
C4154R |
probably damaging |
Het |
Sytl3 |
C |
T |
17: 6,954,723 (GRCm39) |
A131V |
probably benign |
Het |
Tacc1 |
T |
A |
8: 25,672,271 (GRCm39) |
D319V |
probably benign |
Het |
Tead1 |
A |
T |
7: 112,475,391 (GRCm39) |
K234I |
probably damaging |
Het |
Tgfbrap1 |
C |
T |
1: 43,114,618 (GRCm39) |
V161I |
probably benign |
Het |
Tmem94 |
T |
C |
11: 115,685,917 (GRCm39) |
|
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,884,017 (GRCm39) |
V121A |
probably damaging |
Het |
Tnnt2 |
A |
G |
1: 135,779,793 (GRCm39) |
T297A |
possibly damaging |
Het |
Trappc11 |
G |
A |
8: 47,957,000 (GRCm39) |
L809F |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,601,869 (GRCm39) |
I18598V |
probably benign |
Het |
Ube2o |
A |
G |
11: 116,436,650 (GRCm39) |
|
probably benign |
Het |
Unc5a |
A |
G |
13: 55,144,232 (GRCm39) |
N186D |
probably damaging |
Het |
Uqcrfs1 |
C |
A |
13: 30,724,784 (GRCm39) |
G252V |
probably damaging |
Het |
Vmn2r115 |
T |
C |
17: 23,564,992 (GRCm39) |
I293T |
probably damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,991,694 (GRCm39) |
T556A |
probably benign |
Het |
Wnk1 |
G |
A |
6: 119,927,645 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,997,529 (GRCm39) |
Y1029N |
probably benign |
Het |
Zfp451 |
T |
A |
1: 33,808,894 (GRCm39) |
K989M |
possibly damaging |
Het |
Zfpm1 |
C |
T |
8: 123,062,585 (GRCm39) |
T548M |
probably damaging |
Het |
|
Other mutations in Abcb5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Abcb5
|
APN |
12 |
118,854,345 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00092:Abcb5
|
APN |
12 |
118,892,430 (GRCm39) |
missense |
probably benign |
0.09 |
IGL00503:Abcb5
|
APN |
12 |
118,871,336 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00776:Abcb5
|
APN |
12 |
118,883,589 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01116:Abcb5
|
APN |
12 |
118,849,911 (GRCm39) |
missense |
probably benign |
|
IGL01302:Abcb5
|
APN |
12 |
118,881,935 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01403:Abcb5
|
APN |
12 |
118,836,602 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01453:Abcb5
|
APN |
12 |
118,831,705 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01541:Abcb5
|
APN |
12 |
118,875,169 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01784:Abcb5
|
APN |
12 |
118,854,399 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01967:Abcb5
|
APN |
12 |
118,831,707 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01987:Abcb5
|
APN |
12 |
118,891,093 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02104:Abcb5
|
APN |
12 |
118,904,415 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02161:Abcb5
|
APN |
12 |
118,838,490 (GRCm39) |
missense |
probably benign |
|
IGL02292:Abcb5
|
APN |
12 |
118,881,932 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02381:Abcb5
|
APN |
12 |
118,904,413 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02544:Abcb5
|
APN |
12 |
118,870,003 (GRCm39) |
splice site |
probably benign |
|
IGL02685:Abcb5
|
APN |
12 |
118,869,682 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02824:Abcb5
|
APN |
12 |
118,854,420 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02876:Abcb5
|
APN |
12 |
118,883,576 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02929:Abcb5
|
APN |
12 |
118,908,674 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03030:Abcb5
|
APN |
12 |
118,904,104 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03062:Abcb5
|
APN |
12 |
118,899,822 (GRCm39) |
missense |
probably benign |
0.43 |
IGL03200:Abcb5
|
APN |
12 |
118,928,989 (GRCm39) |
splice site |
probably benign |
|
IGL03407:Abcb5
|
APN |
12 |
118,904,111 (GRCm39) |
missense |
probably benign |
0.01 |
alphabet
|
UTSW |
12 |
118,854,353 (GRCm39) |
missense |
possibly damaging |
0.67 |
google
|
UTSW |
12 |
118,831,665 (GRCm39) |
missense |
possibly damaging |
0.93 |
F5770:Abcb5
|
UTSW |
12 |
118,849,914 (GRCm39) |
missense |
probably benign |
0.07 |
PIT4366001:Abcb5
|
UTSW |
12 |
118,899,833 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4434001:Abcb5
|
UTSW |
12 |
118,854,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R0078:Abcb5
|
UTSW |
12 |
118,891,129 (GRCm39) |
missense |
probably benign |
|
R0219:Abcb5
|
UTSW |
12 |
118,849,885 (GRCm39) |
splice site |
probably benign |
|
R0312:Abcb5
|
UTSW |
12 |
118,836,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Abcb5
|
UTSW |
12 |
118,928,986 (GRCm39) |
splice site |
probably benign |
|
R0359:Abcb5
|
UTSW |
12 |
118,904,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R0433:Abcb5
|
UTSW |
12 |
118,841,545 (GRCm39) |
missense |
probably benign |
0.03 |
R0582:Abcb5
|
UTSW |
12 |
118,904,147 (GRCm39) |
missense |
probably benign |
0.40 |
R0815:Abcb5
|
UTSW |
12 |
118,865,184 (GRCm39) |
splice site |
probably benign |
|
R0900:Abcb5
|
UTSW |
12 |
118,904,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R0942:Abcb5
|
UTSW |
12 |
118,869,933 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0988:Abcb5
|
UTSW |
12 |
118,896,310 (GRCm39) |
missense |
probably benign |
0.36 |
R1125:Abcb5
|
UTSW |
12 |
118,875,282 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1437:Abcb5
|
UTSW |
12 |
118,838,497 (GRCm39) |
missense |
probably damaging |
0.99 |
R1469:Abcb5
|
UTSW |
12 |
118,831,681 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1678:Abcb5
|
UTSW |
12 |
118,929,064 (GRCm39) |
start gained |
probably benign |
|
R1726:Abcb5
|
UTSW |
12 |
118,871,267 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1726:Abcb5
|
UTSW |
12 |
118,838,536 (GRCm39) |
splice site |
probably null |
|
R1836:Abcb5
|
UTSW |
12 |
118,831,696 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1934:Abcb5
|
UTSW |
12 |
118,871,235 (GRCm39) |
splice site |
probably null |
|
R1976:Abcb5
|
UTSW |
12 |
118,854,417 (GRCm39) |
missense |
probably benign |
|
R2005:Abcb5
|
UTSW |
12 |
118,841,562 (GRCm39) |
missense |
probably benign |
0.15 |
R2068:Abcb5
|
UTSW |
12 |
118,904,303 (GRCm39) |
nonsense |
probably null |
|
R2181:Abcb5
|
UTSW |
12 |
118,831,681 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2191:Abcb5
|
UTSW |
12 |
118,831,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R3690:Abcb5
|
UTSW |
12 |
118,836,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R3746:Abcb5
|
UTSW |
12 |
118,838,355 (GRCm39) |
missense |
probably damaging |
0.99 |
R3825:Abcb5
|
UTSW |
12 |
118,865,087 (GRCm39) |
splice site |
probably null |
|
R3919:Abcb5
|
UTSW |
12 |
118,854,353 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4049:Abcb5
|
UTSW |
12 |
118,832,404 (GRCm39) |
missense |
probably damaging |
0.99 |
R4409:Abcb5
|
UTSW |
12 |
118,836,657 (GRCm39) |
missense |
probably damaging |
0.98 |
R4606:Abcb5
|
UTSW |
12 |
118,896,345 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4705:Abcb5
|
UTSW |
12 |
118,929,040 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4954:Abcb5
|
UTSW |
12 |
118,875,169 (GRCm39) |
missense |
probably benign |
0.03 |
R4966:Abcb5
|
UTSW |
12 |
118,850,626 (GRCm39) |
intron |
probably benign |
|
R5169:Abcb5
|
UTSW |
12 |
118,841,552 (GRCm39) |
nonsense |
probably null |
|
R5327:Abcb5
|
UTSW |
12 |
118,875,278 (GRCm39) |
missense |
probably benign |
0.01 |
R5333:Abcb5
|
UTSW |
12 |
118,831,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R5366:Abcb5
|
UTSW |
12 |
118,831,665 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5373:Abcb5
|
UTSW |
12 |
118,850,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R5399:Abcb5
|
UTSW |
12 |
118,875,234 (GRCm39) |
missense |
probably benign |
|
R5416:Abcb5
|
UTSW |
12 |
118,871,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R5447:Abcb5
|
UTSW |
12 |
118,891,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R5474:Abcb5
|
UTSW |
12 |
118,904,425 (GRCm39) |
missense |
probably null |
1.00 |
R5566:Abcb5
|
UTSW |
12 |
118,899,702 (GRCm39) |
missense |
probably damaging |
0.99 |
R5685:Abcb5
|
UTSW |
12 |
118,896,348 (GRCm39) |
splice site |
probably null |
|
R5691:Abcb5
|
UTSW |
12 |
118,890,970 (GRCm39) |
missense |
probably damaging |
0.99 |
R5742:Abcb5
|
UTSW |
12 |
118,881,992 (GRCm39) |
missense |
probably damaging |
0.96 |
R5852:Abcb5
|
UTSW |
12 |
118,891,139 (GRCm39) |
missense |
probably damaging |
0.99 |
R5917:Abcb5
|
UTSW |
12 |
118,832,516 (GRCm39) |
nonsense |
probably null |
|
R5994:Abcb5
|
UTSW |
12 |
118,928,995 (GRCm39) |
critical splice donor site |
probably null |
|
R6295:Abcb5
|
UTSW |
12 |
118,838,379 (GRCm39) |
missense |
probably damaging |
0.99 |
R6455:Abcb5
|
UTSW |
12 |
118,854,284 (GRCm39) |
critical splice donor site |
probably null |
|
R6609:Abcb5
|
UTSW |
12 |
118,892,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R6753:Abcb5
|
UTSW |
12 |
118,908,641 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6818:Abcb5
|
UTSW |
12 |
118,865,089 (GRCm39) |
splice site |
probably null |
|
R6870:Abcb5
|
UTSW |
12 |
118,929,000 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6944:Abcb5
|
UTSW |
12 |
118,875,265 (GRCm39) |
missense |
probably benign |
0.06 |
R6957:Abcb5
|
UTSW |
12 |
118,871,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R6984:Abcb5
|
UTSW |
12 |
118,891,012 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7021:Abcb5
|
UTSW |
12 |
118,895,660 (GRCm39) |
missense |
probably benign |
0.00 |
R7061:Abcb5
|
UTSW |
12 |
118,841,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R7175:Abcb5
|
UTSW |
12 |
118,831,611 (GRCm39) |
missense |
probably benign |
0.00 |
R7239:Abcb5
|
UTSW |
12 |
118,892,460 (GRCm39) |
missense |
probably benign |
0.19 |
R7267:Abcb5
|
UTSW |
12 |
118,916,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R7303:Abcb5
|
UTSW |
12 |
118,875,295 (GRCm39) |
missense |
probably damaging |
0.96 |
R7396:Abcb5
|
UTSW |
12 |
118,831,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R7605:Abcb5
|
UTSW |
12 |
118,881,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R7989:Abcb5
|
UTSW |
12 |
118,875,278 (GRCm39) |
missense |
probably benign |
0.01 |
R8177:Abcb5
|
UTSW |
12 |
118,836,525 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8296:Abcb5
|
UTSW |
12 |
118,838,467 (GRCm39) |
missense |
probably benign |
0.01 |
R8544:Abcb5
|
UTSW |
12 |
118,832,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R8558:Abcb5
|
UTSW |
12 |
118,841,566 (GRCm39) |
missense |
probably benign |
0.07 |
R8790:Abcb5
|
UTSW |
12 |
118,831,620 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9003:Abcb5
|
UTSW |
12 |
118,850,013 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9038:Abcb5
|
UTSW |
12 |
118,895,651 (GRCm39) |
missense |
probably benign |
|
R9410:Abcb5
|
UTSW |
12 |
118,869,703 (GRCm39) |
missense |
probably benign |
0.00 |
R9497:Abcb5
|
UTSW |
12 |
118,899,850 (GRCm39) |
missense |
probably damaging |
0.96 |
R9666:Abcb5
|
UTSW |
12 |
118,838,422 (GRCm39) |
missense |
probably damaging |
0.98 |
R9682:Abcb5
|
UTSW |
12 |
118,896,328 (GRCm39) |
missense |
probably damaging |
0.99 |
R9756:Abcb5
|
UTSW |
12 |
118,881,873 (GRCm39) |
missense |
probably damaging |
0.98 |
V7580:Abcb5
|
UTSW |
12 |
118,849,914 (GRCm39) |
missense |
probably benign |
0.07 |
Z1176:Abcb5
|
UTSW |
12 |
118,882,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGATCCAAGCCCATGTAAGGCTG -3'
(R):5'- CCAGACTTTTCCTGTGGTTAGAGCG -3'
Sequencing Primer
(F):5'- CATGTAAGGCTGGCAGCATC -3'
(R):5'- TCTTCTTCCAGGTGGTCCAA -3'
|
Posted On |
2014-05-23 |